| Angioedema, Hereditary, 6 |
|
Facial edema, Edema of the dorsum of hands, Angioedema |
OMIM:619363 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Angioedema, Hereditary, 4 |
|
Facial edema, Laryngeal edema, Angioedema |
OMIM:619360 |
| Angioedema, Hereditary, 5 |
|
Facial edema, Edema of the dorsum of hands, Angioedema |
OMIM:619361 |
| Follicular Lymphoma |
|
Lymphedema, Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Mediastinal lymphadenop... |
ORPHA:545 |
| Lymphatic Malformation 9 |
|
Tortuous lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:619319 |
| Angioedema, Hereditary, 8 |
|
Facial edema, Edema of the dorsum of hands, Laryngeal edema, Angioedema |
OMIM:619367 |
| Melkersson-Rosenthal Syndrome |
|
Facial edema, Facial palsy |
OMIM:155900 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| Angioedema, Hereditary, 7 |
|
Facial edema, Angioedema |
OMIM:619366 |
| Lymphatic Malformation 14 |
|
Lymphedema |
OMIM:620602 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels, Lymphedema |
OMIM:153300 |
| Lymphatic Malformation 5 |
|
Facial edema, Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels |
OMIM:153200 |
| Meige Disease |
|
Facial edema, Predominantly lower limb lymphedema, Absence of lymph node germinal center, Lymphed... |
ORPHA:90186 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Facial edema, Predominantly lower limb lymphedema, Genital edema, Hypoplasia of lymphatic vessels... |
ORPHA:568051 |
| Endometriosis, Susceptibility To, 1 |
|
Dysmenorrhea, Decreased fertility, Endometriosis |
OMIM:131200 |
| Hydrops Fetalis |
|
Generalized edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetalis, Abnormality ... |
ORPHA:1041 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uter... |
OMIM:601076 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Mild postnatal growth re... |
OMIM:265300 |
| Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico... |
OMIM:617805 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Hydatidiform Mole |
|
Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Chylous Ascites |
|
Ascites, Lymphedema |
ORPHA:1160 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Unilateral cryptorchidism, Renal agenesis, Cryptorchidism |
OMIM:219050 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... |
ORPHA:3109 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia, Bi... |
OMIM:618845 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Ectopic kidney,... |
ORPHA:2578 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Solar Urticaria |
|
Periorbital edema, Edema, Angioedema |
ORPHA:97230 |
| Beaulieu-Boycott-Innes Syndrome |
|
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Ventricular sept... |
OMIM:613680 |
| Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u... |
OMIM:158330 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... |
OMIM:618341 |
| Lymphatic Malformation 4 |
|
Pedal edema, Lymphedema |
OMIM:615907 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... |
OMIM:301099 |
| Spermatogenic Failure 20 |
|
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Renal Agenesis |
|
Unilateral renal agenesis, Absent vas deferens, Renal agenesis, Aplasia/hypoplasia of the uterus,... |
ORPHA:411709 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Renal agenesis, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal ... |
ORPHA:3411 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Unilateral renal agenesis, Ambiguous genitalia, female, Vesicoureteral reflux, Quadricuspid aorti... |
OMIM:606408 |
| Spermatogenic Failure 37 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... |
OMIM:617965 |
| Lymphatic Malformation 1 |
|
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Hypoplasia of lymphatic... |
OMIM:153100 |
| Lymphatic Malformation 6 |
|
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Intestinal lymphangiectasia, G... |
OMIM:616843 |
| Spermatogenic Failure 65 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... |
OMIM:619712 |
| Spermatogenic Failure 84 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:620409 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... |
OMIM:619094 |
| Spermatogenic Failure 56 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... |
OMIM:619515 |
| Partial Chromosome Y Deletion |
|
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... |
ORPHA:1646 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... |
ORPHA:261529 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Unilateral renal agenesis, Gonadal dysgenesis, Hypogonadism, Tetralogy of Fal... |
ORPHA:3306 |
| Melkersson-Rosenthal Syndrome |
|
Periorbital edema, Facial palsy, Lymphadenopathy, Edema |
ORPHA:2483 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Ascites, Pleural effusion, Abnormality of the lymphatic syst... |
ORPHA:69735 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Unilateral renal agenesis, Cryptorchidism, Ventricular septal defect |
OMIM:618504 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Unilateral renal agenesis, Crossed fused renal ectopia, Ventricular septal defect, Ambiguous geni... |
OMIM:618142 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... |
OMIM:620354 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:301059 |
| Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Lymphedema |
OMIM:214900 |
| Lissencephaly 2 |
|
Lymphedema |
OMIM:257320 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Abnormal heart m... |
ORPHA:363444 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Pulmonary lymphangiectasia, Pericardial lymphangiectasia, Intestinal lymphangiectasia, Lymphedema |
OMIM:616006 |
| Melorheostosis |
|
Failure to thrive, Lymphedema |
ORPHA:2485 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Hypoplastic left heart |
OMIM:617661 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Hypogonadism, Renal insufficiency, Cryptorchidism, Testicular seminoma |
ORPHA:281090 |
| Spermatogenic Failure 25 |
|
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... |
OMIM:617960 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Facial edema, Angioedema, Tongue edema, Laryngeal edema, Palpebral edema, Pharyngeal edema |
ORPHA:100057 |
| Spermatogenic Failure 40 |
|
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... |
OMIM:618664 |
| Spermatogenic Failure, X-Linked, 6 |
|
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... |
OMIM:301101 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... |
OMIM:619585 |
| Spermatogenic Failure 54 |
|
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... |
OMIM:619379 |
| Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... |
OMIM:619528 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... |
OMIM:244200 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Uterus didelphys, Abnormal heart morphology, Septate vagina, Renal ins... |
ORPHA:2237 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... |
OMIM:618745 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:619689 |
| Spermatogenic Failure 39 |
|
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... |
OMIM:618643 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Weight loss, Generalized lymphadenopathy, Lymphedema |
ORPHA:33276 |
| Fountain Syndrome |
|
Facial edema |
OMIM:229120 |
| Spermatogenic Failure 47 |
|
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility |
OMIM:619102 |
| Spermatogenic Failure 32 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 30 |
|
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility |
OMIM:618110 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... |
OMIM:277000 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Isochromosomy Yp |
|
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility |
ORPHA:98797 |
| Spermatogenic Failure 73 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:620547 |
| Spermatogenic Failure 74 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:619937 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Unilateral renal agenesis, Ventricular septal defect |
OMIM:601355 |
| Dohle Bodies And Leukemia |
|
Lymphedema |
OMIM:223350 |
| Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility |
OMIM:619145 |
| Isochromosomy Yq |
|
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... |
ORPHA:98798 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:614822 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Nephrolithiasis, Male infertility, Spermatocele |
OMIM:301060 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella |
OMIM:620196 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:612997 |
| Caudal Duplication Anomaly |
|
Ureteral duplication, Uterus didelphys |
OMIM:607864 |
| Spermatogenic Failure 41 |
|
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility |
OMIM:618670 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology, Cryptorchidism, Patent fo... |
OMIM:618494 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... |
ORPHA:529970 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Tapered sperm head, Male infertility |
OMIM:620170 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Cryptorchidism, Neonatal death, Ventricular septal defect, Bicornuate ut... |
OMIM:615524 |
| Campomelia, Cumming Type |
|
Polysplenia, Lymphedema |
OMIM:211890 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Periorbital edema, Failure to thrive, Lymphadenopathy |
OMIM:618048 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Unilateral renal agenesis, Eunuchoid habitus, Cryptorchidism, Hypogonadotropic hypogonadism, Micr... |
OMIM:308750 |
| Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility |
OMIM:619108 |
| Rudiger Syndrome |
|
Micropenis, Bicornuate uterus, Ureterovesical stenosis, Ovarian cyst |
OMIM:268650 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... |
OMIM:611102 |
| Lymphatic Malformation 12 |
|
Polyhydramnios, Fetal ascites, Nonimmune hydrops fetalis, Lymphedema |
OMIM:620014 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Renal ... |
OMIM:194072 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Hypogonadism, External genital hypoplasia, Stage 5 chronic kidney disease, Renal ... |
OMIM:615993 |
| American Trypanosomiasis |
|
Periorbital edema, Splenomegaly, Lymphadenopathy, Edema |
ORPHA:3386 |
| Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligozoospermia, Male infertility |
OMIM:258150 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Reduced sperm motility, Stage 5 chronic ... |
OMIM:137920 |
| Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bifid clitoris, Bladder exstrophy, Epis... |
OMIM:600057 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Unilateral renal agenesis, Decreased testicular size, Azoospermia, Eunuchoid habit... |
OMIM:308700 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Weight loss, Lymphadenopathy, Lymphedema |
ORPHA:3226 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
| Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema, Weight loss, Cervical lymphadenopathy |
ORPHA:514 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco... |
OMIM:300510 |
| Autosomal Recessive Primary Microcephaly |
|
Unilateral renal agenesis, Vesicoureteral reflux |
ORPHA:2512 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom... |
ORPHA:2260 |
| Spermatogenic Failure 86 |
|
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... |
OMIM:620499 |
| Spermatogenic Failure 5 |
|
Multiflagellar spermatozoa, Macrozoospermia, Male infertility |
OMIM:243060 |
| Lacrimal Duct Defect |
|
Periorbital edema |
OMIM:149700 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:618078 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy, Lymphedema |
OMIM:607115 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Uterus didelphy... |
OMIM:146255 |
| Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Abnormality of the lymphatic system, Lymphedema |
ORPHA:1414 |
| Spermatogenic Failure 22 |
|
Cryptozoospermia, Non-obstructive azoospermia, Male infertility |
OMIM:617706 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
| Lymphedema, Primary, With Myelodysplasia |
|
Lymphedema |
OMIM:614038 |
| Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Failure to thrive, Cryptorchidism, Hydronephrosis, Small for gestation... |
OMIM:609757 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility |
OMIM:619828 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Primary amenorrhea, Premature ovarian insufficiency, Hy... |
OMIM:612964 |
| Premature Ovarian Failure 13 |
|
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea |
OMIM:617442 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Abnormality of the uterus, Recurren... |
ORPHA:2970 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
| Holzgreve Syndrome |
|
Hypoplastic left heart, Renal hypoplasia, Renal agenesis |
OMIM:236110 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... |
OMIM:617641 |
| 46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... |
OMIM:612965 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... |
ORPHA:168563 |
| Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Atrial septal defect, Ventricular septal defect |
OMIM:608572 |
| Angioedema, Hereditary, 3 |
|
Facial edema, Intestinal edema, Pharyngeal edema, Angioedema |
OMIM:610618 |
| Greenberg Dysplasia |
|
Lymphedema |
ORPHA:1426 |
| Spermatogenic Failure 87 |
|
Ruffled acrosome, Male infertility |
OMIM:620500 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Attrv30M Amyloidosis |
|
Nephropathy, Cardiomyopathy, Cardiomegaly, Weight loss, Impotence, Abnormal renal physiology |
ORPHA:85447 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema |
OMIM:618154 |
| Cronkhite-Canada Syndrome |
|
Cachexia, Splenomegaly, Lymphedema |
ORPHA:2930 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Failure to thrive, Recurrent ... |
OMIM:609029 |
| Angioedema, Hereditary, 1 |
|
Angioedema, Laryngeal edema, Intestinal edema, Periorbital edema, Pharyngeal edema |
OMIM:106100 |
| Premature Ovarian Failure 6 |
|
Female infertility, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia... |
OMIM:612310 |
| 46,Xy Sex Reversal 11 |
|
Vanishing testis, Primary amenorrhea, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dy... |
OMIM:273250 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Unilateral renal agenesis, Renal agenesis, Rectovaginal fistula, Ebstein anom... |
OMIM:608980 |
| Milroy Disease |
|
Predominantly lower limb lymphedema, Pedal edema, Lymphedema |
ORPHA:79452 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... |
OMIM:194080 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Failure to thrive, Hypogonadi... |
ORPHA:96170 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss, Palpebral edema, Mediastinal lymphadenopathy, Edema |
ORPHA:99868 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Lymphedema |
OMIM:616342 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Periorbital edema, Edema |
ORPHA:656 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Intestinal lymphangiectasia, Pleural effusion, Mild postnatal growth retardation, Non... |
OMIM:235510 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Lymphedema |
OMIM:247410 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Primary amenorrhea, Vaginal atresia, Bicornuate uterus, Re... |
OMIM:191830 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... |
OMIM:614841 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphedema |
ORPHA:1116 |
| Caudal Duplication |
|
Abnormal penis morphology, Uterus didelphys, Cryptorchidism, Renal hypoplasia/aplasia, Ureteral d... |
ORPHA:1756 |
| Clapo Syndrome |
|
Lymphangioma, Failure to thrive, Lymphedema |
ORPHA:168984 |
| Spermatogenic Failure 81 |
|
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility |
OMIM:620277 |
| Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... |
OMIM:266810 |
| Fliedner-Zweier Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Ventricular septal defect, Hydr... |
OMIM:620511 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Proximal tubulopathy, Failure to thrive, Hyperechogenic kidneys, Splen... |
OMIM:614576 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Periorbital edema, Cervical lymphadenopathy |
OMIM:142680 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... |
OMIM:614837 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema |
ORPHA:3137 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Cantu Syndrome |
|
Pericardial effusion, Large for gestational age, Lymphedema |
OMIM:239850 |
| Leydig Cell Hypoplasia |
|
Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... |
ORPHA:755 |
| Chromomycosis |
|
Lymphangiectasis, Predominantly lower limb lymphedema, Edema, Lymphedema |
ORPHA:182 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... |
OMIM:614527 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Lymphedema |
ORPHA:79279 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
OMIM:601927 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Periorbital edema, Splenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:617591 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis |
OMIM:607823 |
| Klippel-Trenaunay-Weber Syndrome |
|
Lymphangioma, Lymphedema |
OMIM:149000 |
| Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... |
ORPHA:90797 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Unilateral renal agenesis, Secundum atrial septal defect, Vesicoureteral reflux, Cryptorchidism, ... |
OMIM:619951 |
| Al-Gazali-Bakalinova Syndrome |
|
Lymphedema |
OMIM:607131 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Vaginal at... |
OMIM:617914 |
| Lumbar Syndrome |
|
Renal agenesis, Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hypoplas... |
ORPHA:83628 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of t... |
OMIM:619203 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Pulmonary lymphangiectasia, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema |
OMIM:137940 |
| Meacham Syndrome |
|
Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Septate vagina, Scimitar anomaly, ... |
OMIM:608978 |
| Duplication Of Urethra |
|
Clitoral hypertrophy, Urinary bladder wall hypertrophy, Urethral stricture, Chordee, Urinary inco... |
ORPHA:237 |
| Perrault Syndrome 4 |
|
Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Premature ovarian insuffici... |
OMIM:615300 |
| Yellow Nail Syndrome |
|
Hypoplasia of lymphatic vessels, Lymphedema |
ORPHA:662 |
| German Syndrome |
|
Lymphedema |
ORPHA:2077 |
| Fanconi Anemia, Complementation Group N |
|
Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Ventricular septal defect, Ectopic k... |
OMIM:610832 |
| Ring Chromosome 22 Syndrome |
|
Pleural effusion, Edema, Lymphedema |
ORPHA:1446 |
| Ciliary Dyskinesia, Primary, 51 |
|
Reduced sperm motility, Irregularly shaped sperm tail, Situs inversus totalis, Reduced progressiv... |
OMIM:620438 |
| Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis |
OMIM:619504 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility |
ORPHA:3000 |
| Coach Syndrome 1 |
|
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... |
OMIM:216360 |
| Spermatogenic Failure 44 |
|
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Cryptorchidism, Truncal obes... |
OMIM:616541 |
| Mucopolysaccharidosis Type 7 |
|
Ascites, Hydrops fetalis, Splenomegaly, Lymphedema |
ORPHA:584 |
| Exstrophy-Epispadias Complex |
|
Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Renal... |
ORPHA:322 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Predominantly lower limb lymphedema |
ORPHA:261519 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Periorbital edema, Edema |
ORPHA:567548 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Unilateral renal agenesis, Failure to thrive, Coronary artery fistula, Cryptorchidism, Ventricula... |
OMIM:620024 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Renal hypoplasia, Horseshoe kidney, Tetralogy of Fallot, Cryptorchidism,... |
OMIM:601186 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Lymphedema, Ascites, Pancreatic lymphangiectasis, Splenomegaly, Thyroid lymphangiectasia, Pulmona... |
OMIM:235255 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Abnormal vagina morphology, Abnormality of the ovary, Obesity, Primary amenorrhea... |
ORPHA:247768 |
| Braddock Syndrome |
|
Unilateral renal agenesis, Failure to thrive |
ORPHA:52047 |
| Donnai-Barrow Syndrome |
|
Proteinuria, Bicornuate uterus, Abnormality of the uterus, Ventricular septal defect |
ORPHA:2143 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
| Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Lymphedema |
OMIM:613089 |
| Meckel Syndrome 12 |
|
Renal hypoplasia, Bilateral renal agenesis, Vaginal atresia, Hypoplasia of the uterus, Ureteral h... |
OMIM:616258 |
| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypoplasia of the ovary, Primary ameno... |
OMIM:619665 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:617690 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... |
ORPHA:99429 |
| Monosomy 18P |
|
Lymphedema |
ORPHA:1598 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Lymphedema |
OMIM:152950 |
| Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:614129 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
| Infantile Systemic Hyalinosis |
|
Aplasia/Hypoplasia of the thymus, Failure to thrive, Lymphedema |
ORPHA:2176 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Eunuchoid... |
ORPHA:432 |
| Sacral Agenesis With Vertebral Anomalies |
|
Unilateral renal agenesis, Persistent cloaca, Neonatal death |
OMIM:615709 |
| Waldenström Macroglobulinemia |
|
Pleural effusion, Splenomegaly, Lymphadenopathy, Periorbital edema, Pedal edema |
ORPHA:33226 |
| Ciliary Dyskinesia, Primary, 50 |
|
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... |
OMIM:620356 |
| Hand-Foot-Genital Syndrome |
|
Abnormality of the urethra, Abnormality of the uterus, Recurrent urinary tract infections, Ureter... |
ORPHA:2438 |
| Leopard Syndrome 1 |
|
Unilateral renal agenesis, Hypertrophic cardiomyopathy, Delayed menarche, Cryptorchidism, Aplasia... |
OMIM:151100 |
| Takenouchi-Kosaki Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, Hydronephrosis, Abnormal cardiac septum morphology, Hy... |
OMIM:616737 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... |
OMIM:617666 |
| 46,Xy Sex Reversal 4 |
|
Renal dysplasia, Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplas... |
OMIM:154230 |
| Houge-Janssens Syndrome 2 |
|
Unilateral renal agenesis |
OMIM:616362 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Abnormal heart morphology, Unilateral renal agenesis, Methylmalonic aciduria, Failure to thrive |
ORPHA:79284 |
| Diamond-Blackfan Anemia 11 |
|
Unilateral renal agenesis, Bicuspid aortic valve |
OMIM:614900 |
| Juvenile Nasopharyngeal Angiofibroma |
|
Facial edema |
ORPHA:289596 |
| Multiple Sulfatase Deficiency |
|
Periorbital edema, Splenomegaly |
OMIM:272200 |
| Spermatogenic Failure 38 |
|
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... |
OMIM:618433 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Failure to thrive, Neonatal death |
OMIM:614096 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Infertility, True hermaph... |
OMIM:278850 |
| Spermatogenic Failure, X-Linked, 7 |
|
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... |
OMIM:301106 |
| 20Q11.2 Microduplication Syndrome |
|
Periorbital edema, Palpebral edema, Underdeveloped supraorbital ridges |
ORPHA:363659 |
| Shashi-Pena Syndrome |
|
Unilateral renal agenesis, Atrial septal defect |
OMIM:617190 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Lymphadenitis, Lymphedema, Abnormality of the lymphatic syst... |
ORPHA:2035 |
| Spermatogenic Failure 85 |
|
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... |
OMIM:620490 |
| Familial Exudative Vitreoretinopathy |
|
Macular edema, Lymphedema |
ORPHA:891 |
| Campomelia, Cumming Type |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
ORPHA:1318 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Unilateral renal agenesis, Abnormal male external genitalia morphology, Abnormal ovarian morpholo... |
ORPHA:95699 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clitoral hypertrophy, Renal agenesis, Horseshoe kidney, Mitral atresia, Renal insufficiency, Vesi... |
ORPHA:140952 |
| Hennekam Syndrome |
|
Chylothorax, Lymphedema, Ascites, Mild postnatal growth retardation, Lymphangioma, Splenomegaly, ... |
ORPHA:2136 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Failure to thrive, Decreased testicular size, Decreased fertility, Cryptorchidism, Polycystic ova... |
ORPHA:90796 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... |
ORPHA:325124 |
| Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... |
OMIM:113650 |
| Townes-Brocks Syndrome 2 |
|
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
| Tenosynovial Giant Cell Tumor |
|
Joint swelling, Lymphedema |
ORPHA:66627 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Unilateral renal agenesis, Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus... |
OMIM:618419 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Capillary Malformation-Arteriovenous Malformation |
|
Chylothorax, Lymphedema, Facial capillary hemangioma, Nonimmune hydrops fetalis, Abnormality of t... |
ORPHA:137667 |
| Nasolacrimal Duct Cyst |
|
Periorbital edema |
ORPHA:141083 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Clitoral hypertrophy, Hypoplasia of the bladder, Hydroureter, Valvular pulmonary stenosis, Septat... |
OMIM:300707 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect, Unilateral renal agenesis, Renal agenesis |
OMIM:619227 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Lymphedema |
ORPHA:1563 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Enuresis, Aplasia/hypoplasia of the uterus, Obe... |
ORPHA:96121 |
| Noonan Syndrome 13 |
|
Lymphedema |
OMIM:619087 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal heart morphology, Bicornuate uterus, Polycystic kidney dysplasia |
OMIM:263210 |
| Neurooculorenal Syndrome |
|
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... |
OMIM:620305 |
| Penoscrotal Transposition |
|
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Cardiomyopathy, Abnormalit... |
ORPHA:2842 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Failure to thrive, Cryptorchidism,... |
ORPHA:464311 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Chylothorax, Failure to thrive, Lymphedema, Postnatal growth retardation, Hepatosplenomegaly, Spl... |
OMIM:613563 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hydronephrosis, Unilateral renal agenesis, Hepatomegaly, Ventricular septal defect |
OMIM:620454 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... |
ORPHA:314478 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Unilateral renal agenesis, Renal hypoplasia, Ventricular hypertrophy, Obesity, Vesicoureteral ref... |
OMIM:620654 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... |
OMIM:400045 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest |
OMIM:619949 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Abnormality of the kidney |
OMIM:118100 |
| Pseudotrisomy 13 Syndrome |
|
Renal hypoplasia, Renal agenesis, Cryptorchidism, Complete atrioventricular canal defect, Ventric... |
OMIM:264480 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus, Renal hypoplasia, Unilateral renal agenesis |
OMIM:614083 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Enlarged kidney, Ovarian cyst |
OMIM:618188 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor... |
ORPHA:251510 |
| Smith-Lemli-Opitz Syndrome |
|
Small scrotum, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Dup... |
OMIM:270400 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Failure to thrive, Cryptorchidism,... |
ORPHA:464306 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Chylothorax, Nonimmune hydrops fetalis, Lymphedema |
OMIM:153400 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity |
ORPHA:88643 |
| Lujo Hemorrhagic Fever |
|
Periorbital edema, Cerebral edema, Generalized edema, Facial edema |
ORPHA:319213 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Irregular menstruation, Unilateral renal agenesis, Hypogonadism, Cryptorchidism, Small for gestat... |
OMIM:101800 |
| Trichinellosis |
|
Periorbital edema, Facial palsy, Facial edema, Edema |
ORPHA:863 |
| Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Splenomegaly, Cardiomegaly, Hepatomegaly, Nephrotic syndrome |
OMIM:269920 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Distal Xq28 Microduplication Syndrome |
|
Predominantly lower limb lymphedema, Upper eyelid edema |
ORPHA:293939 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility |
OMIM:616950 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Ambiguous genitalia, female, Absent sc... |
OMIM:258040 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla... |
ORPHA:3130 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Irregular menstruation, Increased urinary 11-deoxycorticosterone level, Male hypogonadism, Precoc... |
ORPHA:90793 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Obstructive azoospermia, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Male in... |
ORPHA:48 |
| Lymphangioleiomyomatosis |
|
Chylothorax, Lymphedema, Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic sy... |
ORPHA:538 |
| Congenital Analbuminemia |
|
Facial edema, Edema, Obesity, Oligohydramnios, Small for gestational age, Pedal edema |
ORPHA:86816 |
| Phelan-Mcdermid Syndrome |
|
Palpebral edema, Prominent supraorbital ridges, Lymphedema |
OMIM:606232 |
| Hemochromatosis, Type 1 |
|
Cardiomyopathy, Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomeg... |
OMIM:235200 |
| Spermatogenic Failure 77 |
|
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility |
OMIM:620103 |
| Blepharochalasis, Superior |
|
Blepharochalasis |
OMIM:110000 |
| Omodysplasia 2 |
|
Uterus didelphys, Cryptorchidism, Dyspareunia, Labial hypoplasia, Micropenis, Hypospadias, Clitor... |
OMIM:164745 |
| Hand-Foot-Genital Syndrome |
|
Uterus didelphys, Bifid scrotum, Pyelonephritis, Renal insufficiency, Ureteropelvic junction obst... |
OMIM:140000 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Hors... |
ORPHA:3097 |
| Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Oligozoospermia, Male infertility |
OMIM:108420 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina |
ORPHA:457284 |
| Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Globozoospermia, Male infertility |
OMIM:102530 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, ... |
ORPHA:139466 |
| Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... |
OMIM:618280 |
| Matthew-Wood Syndrome |
|
Renal hypoplasia, Failure to thrive, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral ... |
ORPHA:2470 |
| X-Linked Intellectual Disability, Shashi Type |
|
Palpebral edema, Obesity, Prominent supraorbital ridges |
ORPHA:85286 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Multicystic kidney dysplasia, Acute kidney injury, Absent vas deferens, Renal agenesis, Horseshoe... |
ORPHA:93111 |
| Igg4-Related Submandibular Gland Disease |
|
Periorbital edema, Xerostomia, Facial edema, Lymphadenopathy |
ORPHA:449432 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Unilateral renal agenesis |
ORPHA:1064 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Unilateral renal agenesis, Dilatation of the renal pelvis, Recurrent urina... |
ORPHA:268261 |
| Fryns Microphthalmia Syndrome |
|
Unicornuate uterus |
OMIM:600776 |
| Nager Syndrome |
|
Unilateral renal agenesis |
ORPHA:245 |
| Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... |
OMIM:618652 |
| Secondary Intestinal Lymphangiectasia |
|
Anasarca, Lymphedema, Pleural effusion, Chylous ascites, Intestinal lymphedema, Edema |
ORPHA:90363 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Obesity, Overweight, Lymphedema |
ORPHA:2822 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614851 |
| Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Underdeveloped supraorbital ridges, Lymphedema |
ORPHA:1340 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Axial malrotation of the kidney, Horseshoe kidney, Tetralogy of Fallot, Aplasia of the uterus, Ab... |
ORPHA:3320 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Failure to thrive |
OMIM:619151 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis |
OMIM:616603 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Small for gestational age, Failure to thrive, Biventricular hypertrophy, Dextrotransposition of t... |
ORPHA:860 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Hydronephrosis, Single ventricle, Abnormal cardiac septum morphology, ... |
OMIM:308050 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Periorbital edema, Hypoplasia of the thymus, Accessory spleen, Ascites |
OMIM:613177 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Fabry Disease |
|
Lymphedema |
OMIM:301500 |
| Neuraminidase Deficiency |
|
Ascites, Splenomegaly, Hydrops fetalis, Facial edema |
OMIM:256550 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Nephrotic syndrome, Abnormal urinary electrolyte concentration, Hypogonadism, Noctur... |
ORPHA:85450 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Microphallus... |
ORPHA:468631 |
| Congenital Myopathy 8 |
|
