| Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
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, Angioedema, Edema of the dorsum of hands |
OMIM:619361 |
| Follicular Lymphoma |
|
Lymphedema, Mediastinal lymphadenopathy, Splenomegaly, Weight loss, Lymphadenopathy, Pleural effu... |
ORPHA:545 |
| Angioedema, Hereditary, 8 |
|
Facial edema, Laryngeal edema, Angioedema, Edema of the dorsum of hands |
OMIM:619367 |
| Lymphatic Malformation 9 |
|
Tortuous lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:619319 |
| Melkersson-Rosenthal Syndrome |
|
Facial edema, Facial palsy |
OMIM:155900 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Angioedema, Hereditary, 7 |
|
Facial edema, Angioedema |
OMIM:619366 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Yellow Nail Syndrome |
|
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
| Lymphatic Malformation 5 |
|
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:153200 |
| Meige Disease |
|
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem... |
ORPHA:90186 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, P... |
ORPHA:568051 |
| Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,... |
OMIM:601076 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
| Hydrops Fetalis |
|
Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial eff... |
ORPHA:1041 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Hydatidiform Mole |
|
Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
| Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
| Chylous Ascites |
|
Ascites, Lymphedema |
ORPHA:1160 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Unilateral renal agenesis, Ureteral atresia, Bilateral renal agenesis, Hyp... |
OMIM:618845 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Renal dysplasia, Aplasia/hypoplas... |
ORPHA:2578 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619672 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Unilateral cryptorchidism, Cryptorchidism, Renal agenesis |
OMIM:219050 |
| Solar Urticaria |
|
Periorbital edema, Angioedema, Edema |
ORPHA:97230 |
| Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Premature ovarian insufficiency, Ventricular septal defect, E... |
OMIM:613680 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the vagina... |
OMIM:158330 |
| Lymphatic Malformation 4 |
|
Pedal edema, Lymphedema |
OMIM:615907 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Renal Agenesis |
|
Renal insufficiency, Absent vas deferens, Renal agenesis, Ventricular septal defect, Unilateral r... |
ORPHA:411709 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Unilateral renal agenesis, Ambiguous genitalia, female, Mitral valve p... |
OMIM:606408 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Renal agenesis, Abnormal uterine cervix morphology, Dysmenor... |
ORPHA:3411 |
| Melkersson-Rosenthal Syndrome |
|
Periorbital edema, Facial palsy, Edema, Lymphadenopathy |
ORPHA:2483 |
| Lymphatic Malformation 1 |
|
Hyperkeratosis over edematous areas, Hypoplasia of lymphatic vessels, Predominantly lower limb ly... |
OMIM:153100 |
| Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
| Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility |
ORPHA:98797 |
| Melorheostosis |
|
Failure to thrive, Lymphedema |
ORPHA:2485 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Intestinal lymphangiectasia, Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Lymphedema |
OMIM:616006 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Micropenis, Ventricular septal defect, Unilateral renal agenesis |
OMIM:618504 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H... |
ORPHA:3109 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the lymphatic system, Hydrop... |
ORPHA:69735 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Ambiguous genitalia, Ventricular septal defect, Hypoplastic right he... |
OMIM:618142 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Hypoplastic left heart, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Gonadal... |
ORPHA:3306 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Lissencephaly 2 |
|
Lymphedema |
OMIM:257320 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Premature ovarian insufficiency, Hypospadias, Abnormality of ... |
ORPHA:363444 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Lymphedema |
OMIM:214900 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys... |
ORPHA:2237 |
| Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Testicular seminoma |
ORPHA:281090 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
| Kaposi Sarcoma |
|
Generalized lymphadenopathy, Abnormality of the spleen, Weight loss, Lymphedema |
ORPHA:33276 |
| Fountain Syndrome |
|
Facial edema |
OMIM:229120 |
| Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Primary amenorrhea, Mic... |
OMIM:244200 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis |
OMIM:601355 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Bicornuate uterus, Neonatal d... |
OMIM:615524 |
| Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Caudal Duplication Anomaly |
|
Ureteral duplication, Uterus didelphys |
OMIM:607864 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Dohle Bodies And Leukemia |
|
Lymphedema |
OMIM:223350 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Abnormal ... |
OMIM:618494 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... |
OMIM:615993 |
| Campomelia, Cumming Type |
|
Polysplenia, Lymphedema |
OMIM:211890 |
| Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis |
OMIM:268650 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Periorbital edema, Failure to thrive, Lymphadenopathy |
OMIM:618048 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Lymphatic Malformation 12 |
|
Fetal ascites, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema |
OMIM:620014 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy, Bifid cl... |
OMIM:600057 |
| Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... |
OMIM:194072 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Micr... |
OMIM:308750 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Weight loss, Lymphadenopathy, Lymphedema |
ORPHA:3226 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Mild postnatal g... |
OMIM:265300 |
| American Trypanosomiasis |
|
Periorbital edema, Splenomegaly, Edema, Lymphadenopathy |
ORPHA:3386 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Secundum ... |
ORPHA:2260 |
| Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema, Cervical lymphadenopathy, Weight loss |
ORPHA:514 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal edema, Angioedema |
ORPHA:100057 |
| Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
| Lacrimal Duct Defect |
|
Periorbital edema |
OMIM:149700 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ... |
OMIM:620135 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Lymphadenopathy, Lymphedema |
OMIM:607115 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular basement membrane, Prox... |
OMIM:146255 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Small scrotum, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Crypt... |
OMIM:308700 |
| Williams-Beuren Region Duplication Syndrome |
|
Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Failure to thrive, Hydronep... |
OMIM:609757 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
| Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Abnormality of the lymphatic system, Lymphedema |
ORPHA:1414 |
| Lymphedema, Primary, With Myelodysplasia |
|
Lymphedema |
OMIM:614038 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral renal agenesis, Ectopic kidn... |
OMIM:617641 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:618078 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Holzgreve Syndrome |
|
Renal agenesis, Hypoplastic left heart, Renal hypoplasia |
OMIM:236110 |
| Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Unilateral renal agenesis |
OMIM:608572 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
| Angioedema, Hereditary, 1 |
|
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema |
OMIM:106100 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplasia of the uter... |
OMIM:612964 |
| Cronkhite-Canada Syndrome |
|
Splenomegaly, Cachexia, Lymphedema |
ORPHA:2930 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena... |
ORPHA:2970 |
| Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
| Emanuel Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Truncus arteriosus, Unilateral ren... |
OMIM:609029 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema |
OMIM:618154 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea... |
ORPHA:168563 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Precocious puberty, Ebstein anomaly of the tricuspid v... |
OMIM:608980 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Greenberg Dysplasia |
|
Lymphedema |
ORPHA:1426 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Weight loss, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
| Milroy Disease |
|
Predominantly lower limb lymphedema, Pedal edema, Lymphedema |
ORPHA:79452 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... |
OMIM:194080 |
| Angioedema, Hereditary, 3 |
|
Facial edema, Angioedema, Intestinal edema, Pharyngeal edema |
OMIM:610618 |
| Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis, Cryptorchidism, Renal h... |
ORPHA:96170 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
| Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Uterus... |
ORPHA:1756 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Periorbital edema, Edema |
ORPHA:656 |
| Lissencephaly 7 With Cerebellar Hypoplasia |
|
Lymphedema |
OMIM:616342 |
| Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... |
OMIM:266810 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Mild postnatal growth retardation, Nonimmune hydrops fetalis, Lymph... |
OMIM:235510 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal... |
OMIM:273250 |
| Renal Hypodysplasia/Aplasia 1 |
|
Renal dysplasia, Proteinuria, Primary amenorrhea, Bilateral renal agenesis, Bicornuate uterus, Va... |
OMIM:191830 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Lymphedema |
OMIM:247410 |
| Clapo Syndrome |
|
Lymphangioma, Failure to thrive, Lymphedema |
ORPHA:168984 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Ventricular septal defect, Unilateral renal agenesis, Splenomegaly, Proximal tubulo... |
OMIM:614576 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphedema |
ORPHA:1116 |
| Thymic Carcinoma |
|
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema |
ORPHA:3137 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Periorbital edema, Cervical lymphadenopathy |
OMIM:142680 |
| Chromomycosis |
|
Lymphangiectasis, Predominantly lower limb lymphedema, Edema, Lymphedema |
ORPHA:182 |
| Cantu Syndrome |
|
Pericardial effusion, Large for gestational age, Lymphedema |
OMIM:239850 |
| Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Lymphedema |
ORPHA:79279 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... |
OMIM:614841 |
| Klippel-Trenaunay-Weber Syndrome |
|
Lymphangioma, Lymphedema |
OMIM:149000 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
OMIM:601927 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... |
OMIM:614837 |
| Lumbar Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy... |
ORPHA:83628 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Periorbital edema, Splenomegaly, Failure to thrive, Lymphadenopathy |
OMIM:617591 |
| 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 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema |
OMIM:607823 |
| Al-Gazali-Bakalinova Syndrome |
|
Lymphedema |
OMIM:607131 |
| Tenosynovial Giant Cell Tumor |
|
Joint swelling, Lymphedema |
ORPHA:66627 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Septate vagina, Male pseudohermap... |
OMIM:608978 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Unilateral renal agenesis, Secundum atrial septal defect, Cryptorchidism, Vesicoureteral reflux, ... |
OMIM:619951 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Hyperech... |
OMIM:617914 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Pulmonary lymphangiectasia, Lymphedema |
OMIM:137940 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Bilateral... |
ORPHA:90797 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Renal hypo... |
OMIM:601186 |
| German Syndrome |
|
Lymphedema |
ORPHA:2077 |
| Ring Chromosome 22 Syndrome |
|
Pleural effusion, Edema, Lymphedema |
ORPHA:1446 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Dilated cardiomyopathy, Renal hypoplas... |
OMIM:616541 |
| Yellow Nail Syndrome |
|
Hypoplasia of lymphatic vessels, Lymphedema |
ORPHA:662 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Obesity, Secondary amenorrhea, Primary amenorrhea, Hypoplasia of... |
OMIM:615300 |
| Coach Syndrome 1 |
|
Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Stag... |
OMIM:216360 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Hypoplasia of the ... |
OMIM:619203 |
| Duplication Of Urethra |
|
Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... |
ORPHA:237 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Small for gestational age, Unilateral renal agenesis, Cryptorchidism, ... |
OMIM:620024 |
| Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis |
OMIM:619504 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Periorbital edema, Edema |
ORPHA:567548 |
| Braddock Syndrome |
|
Failure to thrive, Unilateral renal agenesis |
ORPHA:52047 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Predominantly lower limb lymphedema |
ORPHA:261519 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Splenomegaly, Pancreatic lymphangiectasis, ... |
OMIM:235255 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... |
ORPHA:322 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Ascites, Hydrops fetalis, Lymphedema |
ORPHA:584 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
| Donnai-Barrow Syndrome |
|
Bicornuate uterus, Ventricular septal defect, Abnormality of the uterus, Proteinuria |
ORPHA:2143 |
| Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Abnormal vagina morphology... |
ORPHA:247768 |
| Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Lymphedema |
OMIM:613089 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Meckel Syndrome 12 |
|
Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal agenesis, Vagina... |
OMIM:616258 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Lymphedema |
OMIM:152950 |
| Monosomy 18P |
|
Lymphedema |
ORPHA:1598 |
| Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Premature ovarian insufficiency, Primary ameno... |
OMIM:619665 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:617690 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
| Diamond-Blackfan Anemia 11 |
|
Bicuspid aortic valve, Unilateral renal agenesis |
OMIM:614900 |
| Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Infantile Systemic Hyalinosis |
|
Failure to thrive, Aplasia/Hypoplasia of the thymus, Lymphedema |
ORPHA:2176 |
| Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:614129 |
| Waldenström Macroglobulinemia |
|
Periorbital edema, Splenomegaly, Pedal edema, Lymphadenopathy, Pleural effusion |
ORPHA:33226 |
| Juvenile Nasopharyngeal Angiofibroma |
|
Facial edema |
ORPHA:289596 |
| Hogue-Janssen Syndrome 2 |
|
Unilateral renal agenesis |
OMIM:616362 |
| Hand-Foot-Genital Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Abnormality of the ur... |
ORPHA:2438 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Abnormal cardiac septum morphology, Pulmo... |
OMIM:616737 |
| Leopard Syndrome 1 |
|
Hypospadias, Unilateral renal agenesis, Delayed menarche, Complete atrioventricular canal defect,... |
OMIM:151100 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Methylmalonic aciduria, Failure to thrive, Unilateral renal agenesis, Abnormal heart morphology |
ORPHA:79284 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... |
ORPHA:99429 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hydronephrosis, Gonadal dysgenesis, Hypo... |
OMIM:154230 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly |
OMIM:614096 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... |
ORPHA:432 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| Multiple Sulfatase Deficiency |
|
Periorbital edema, Splenomegaly |
OMIM:272200 |
| 20Q11.2 Microduplication Syndrome |
|
Periorbital edema, Underdeveloped supraorbital ridges, Palpebral edema |
ORPHA:363659 |
| Shashi-Pena Syndrome |
|
Atrial septal defect, Unilateral renal agenesis |
OMIM:617190 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
| 7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Obesity, Enure... |
ORPHA:96121 |
| Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Small for gestational age, Unilateral renal agenesis, Hypoplastic labia majora, Hypoplasia of the... |
OMIM:618419 |
| Hennekam Syndrome |
|
Mild postnatal growth retardation, Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymp... |
ORPHA:2136 |
| Familial Exudative Vitreoretinopathy |
|
Macular edema, Lymphedema |
ORPHA:891 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia |
OMIM:617466 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Ambiguous genitalia, Hypospadias, Abn... |
ORPHA:95699 |
| Campomelia, Cumming Type |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
ORPHA:1318 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Lymphedema |
ORPHA:1563 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Renal agenesis, Mitral atresia, Ectopic kidney, Horseshoe kidney, Abnormal c... |
ORPHA:140952 |
| Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Small for gestational age, Septate... |
OMIM:300707 |
| Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Renal agenesis, Complete atrioventricular canal defect, ... |
OMIM:264480 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Muscular ventricular septal defect, Renal agenesis, Unilateral renal agenesis |
OMIM:619227 |
| Nasolacrimal Duct Cyst |
|
Periorbital edema |
ORPHA:141083 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus, Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:263210 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Small for g... |
ORPHA:464311 |
| Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormal external genitalia, Abnormality of the urethra, Penoscrotal... |
ORPHA:2842 |
| Noonan Syndrome 13 |
|
Lymphedema |
OMIM:619087 |
| Capillary Malformation-Arteriovenous Malformation |
|
Nonimmune hydrops fetalis, Facial capillary hemangioma, Lymphedema, Abnormality of the lymphatic ... |
ORPHA:137667 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| 46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... |
OMIM:400045 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis |
OMIM:118100 |
| Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Lymphedema, Lymphadenitis, Abnormality of the lymphatic syst... |
ORPHA:2035 |
| Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Cryptorchidism, Stage 2 chron... |
OMIM:620305 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Dysmenorrhea, Decreased fe... |
ORPHA:90796 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Polyhydramnios, Lymphedema, Postnatal growth retardation, Splenomegaly, Hepatosplenomegaly, Chylo... |
OMIM:613563 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... |
ORPHA:314478 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... |
ORPHA:48 |
| Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:614083 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Renal cyst, Atrial septal defect, Micropenis, Penoscrotal hypospadi... |
OMIM:270400 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Enlarged kidney, Ovarian cyst |
OMIM:618188 |
| Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:616950 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Failure to thrive, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Small for g... |
ORPHA:464306 |
| Lymphedema-Distichiasis Syndrome |
|
Chylothorax, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema |
OMIM:153400 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Vesicovagina... |
OMIM:258040 |
| Interstitial Cystitis |
|
Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur... |
ORPHA:37202 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Trichinellosis |
|
Facial edema, Periorbital edema, Facial palsy, Edema |
ORPHA:863 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
| Distal Xq28 Microduplication Syndrome |
|
Predominantly lower limb lymphedema, Upper eyelid edema |
ORPHA:293939 |
| Lujo Hemorrhagic Fever |
|
Facial edema, Periorbital edema, Cerebral edema, Generalized edema |
ORPHA:319213 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrotic syndrome, Failure to thrive |
OMIM:269920 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Unilateral renal agenesis, Cryptorchidism, Irregular menstruation, Hyp... |
OMIM:101800 |
| Phelan-Mcdermid Syndrome |
|
Palpebral edema, Prominent supraorbital ridges, Lymphedema |
OMIM:606232 |
| Congenital Analbuminemia |
|
Small for gestational age, Edema, Facial edema, Obesity, Pedal edema, Oligohydramnios |
ORPHA:86816 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... |
ORPHA:3130 |
| Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Ambiguous genitalia,... |
ORPHA:3097 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
| Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia |
OMIM:108420 |
| Blepharochalasis, Superior |
|
Blepharochalasis |
OMIM:110000 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Abnormality of the uterus, Vesicoureteral ref... |
ORPHA:2470 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... |
ORPHA:90793 |
| Lymphangioleiomyomatosis |
|
Lymphedema, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Chylothorax, ... |
ORPHA:538 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis |
ORPHA:457284 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, ... |
ORPHA:139466 |
| Omodysplasia 2 |
|
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi... |
OMIM:164745 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper... |
OMIM:235200 |
| Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Ch... |
OMIM:140000 |
| X-Linked Intellectual Disability, Shashi Type |
|
Palpebral edema, Prominent supraorbital ridges, Obesity |
ORPHA:85286 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A... |
ORPHA:93111 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Unilateral renal agenesis |
ORPHA:1064 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
| Igg4-Related Submandibular Gland Disease |
|
Facial edema, Periorbital edema, Xerostomia, Lymphadenopathy |
ORPHA:449432 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
| Nager Syndrome |
|
Unilateral renal agenesis |
ORPHA:245 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Obesity, Lymphedema |
ORPHA:2822 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619949 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Ventricular septal defect, Abnormal pulmonary valve morpholog... |
ORPHA:268261 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal lymphedema, Edema, Lymphedema, Chylous ascites, Anasarca, Pleural effusion |
ORPHA:90363 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
| Cardiofaciocutaneous Syndrome |
|
Underdeveloped supraorbital ridges, Failure to thrive in infancy, Lymphedema |
ORPHA:1340 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614851 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Stillbirth, Abnormal cardiac septum morphology, Hydronephrosis, Single... |
OMIM:308050 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis |
OMIM:616603 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Failure to thrive |
OMIM:619151 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Abnormality of the kidney, Horseshoe kidney, Abnormal cardiac septum morphology, Aplasia of the u... |
ORPHA:3320 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Amenorrhea |
OMIM:600705 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Periorbital edema, Ascites, Hypoplasia of the thymus, Accessory spleen |
OMIM:613177 |
| Fabry Disease |
|
Lymphedema |
OMIM:301500 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Microphallus, Severe failure to thrive, A... |
ORPHA:468631 |
| Neuraminidase Deficiency |
|
Facial edema, Splenomegaly, Ascites, Hydrops fetalis |
OMIM:256550 |
| 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 |
| Acrofacial Dysostosis 1, Nager Type |
|
Tetralogy of Fallot, Ventricular septal defect, Bicornuate uterus, Unilateral renal agenesis |
OMIM:154400 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy... |
OMIM:212140 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Atrial septal defect, Large for gestational age, Unilateral renal agenesis, Shawl scrotum |
OMIM:213980 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Lymphedema |
OMIM:300291 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Cockayne Syndrome Type 3 |
|
Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Sp... |
ORPHA:90324 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Male infertility |
OMIM:618948 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia, Lymphedema |
ORPHA:109 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Abnormal heart morphology, Total anomalous pulmonary veno... |
ORPHA:487796 |
| Neurofaciodigitorenal Syndrome |
|
Cryptorchidism, Unilateral renal agenesis |
ORPHA:2673 |
| 46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Decreased fertility, Secondary amenorrhea, Primary... |
ORPHA:243 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Ren... |
ORPHA:85450 |
| Blepharochalasis And Double Lip |
|
Blepharochalasis |
OMIM:109900 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Periorbital edema, Splenomegaly, Lymphadenopathy |
ORPHA:32960 |
| Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Hydrocele testis, Bicornuate uterus, Shawl scrotum, Atrial septal defect |
OMIM:145420 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
ORPHA:858 |
| Pallister-Hall Syndrome |
|
Decreased testicular size, Ambiguous genitalia, Small scrotum, Ventricular septal defect, Hypospa... |
ORPHA:672 |
| Cerebrofacioarticular Syndrome |
|
Lymphedema |
ORPHA:314679 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Short sperm flagella, Coiled sperm flagella, Male infertility |
OMIM:620197 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Small for gestational age, Cardiomegaly, Micropenis, Hype... |
OMIM:616897 |
| Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Male infertility, Renal agenesis, Hypergonadotropic hypogonadism, S... |
OMIM:227650 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal cardiac septum morphology, Bi... |
ORPHA:2059 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Ab... |
ORPHA:99776 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cryptorchidism, Abnormal renal morphology,... |
ORPHA:1655 |
| Estrogen Resistance |
|
Hypoplasia of the uterus, Primary amenorrhea, Polycystic ovaries |
OMIM:615363 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Cryptorchidism, Bilateral renal agenesis, Unilateral renal agenesis, Hydroureter |
OMIM:619194 |
| Lymphatic Malformation 13 |
|
Ascites, Nonimmune hydrops fetalis, Lymphedema |
OMIM:620244 |
| Phakomatosis Pigmentokeratotica |
|
Lymphedema |
ORPHA:2874 |
| Pagod Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inversus totalis, Agonadism, Hypopl... |
ORPHA:991 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma |
OMIM:253250 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... |
ORPHA:1772 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Failu... |
OMIM:614702 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
| Vacterl/Vater Association |
|
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec... |
ORPHA:887 |
| Zygomycosis |
|
Periorbital edema, Mediastinal lymphadenopathy, Periorbital fullness, Splenic abscess, Pleural ef... |
ORPHA:73263 |
| Spondyloocular Syndrome |
|
Decreased body weight, Lymphedema |
OMIM:605822 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Hypoplasia of the uterus, Ch... |
OMIM:309801 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Unilateral renal agenesis |
ORPHA:221139 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
OMIM:619064 |
| Cockayne Syndrome |
|
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... |
ORPHA:191 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Unilateral renal agenesis, Ventricular septal defect, Tricuspid valve prolapse, Cryptorchidism |
ORPHA:261337 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Failure to thrive, Renal salt wasting, Female external genitalia in individ... |
ORPHA:168558 |
| Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Bicornuate uterus, Ventricular septal defect, Proteinuria |
OMIM:222448 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Renal hypoplasia, Decreased ferti... |
ORPHA:3138 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Facial edema, Splenomegaly |
OMIM:618398 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Situs inversus totalis, Male infertility |
OMIM:300991 |
| Noonan Syndrome |
|
Abnormality of the spleen, Abnormality of the lymphatic system, Lymphedema |
ORPHA:648 |
| Spermatogenic Failure 28 |
|
Non-obstructive azoospermia, Decreased testicular size, Male infertility |
OMIM:618086 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Edema, Lymphedema, Chylothorax, Underdeveloped supraorbital ridges, Pleural effusion |
ORPHA:2526 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Clitoral hypertrophy, Failure to thrive, Renal salt wasting, Female external genitalia in individ... |
ORPHA:289548 |
| Dermatomyositis |
|
Periorbital edema, Edema, Weight loss |
ORPHA:221 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Weight loss, Cardiomyopa... |
ORPHA:465508 |
| Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Renal hypoplasia, Pyelonephritis |
OMIM:181270 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
| 8Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Unilateral renal agenesis, Small for gestat... |
ORPHA:508488 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Facial edema, Pedal edema, Anasarca, Pleural effusion, Ascites |
ORPHA:567546 |
| Idiopathic Congenital Hypothyroidism |
|
Facial edema |
ORPHA:95717 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Splen... |
OMIM:188400 |
| Currarino Syndrome |
|
Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Septate vagina, Hor... |
OMIM:176450 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Irregular menstruation, Hypoplasia of the ut... |
OMIM:110100 |
| Fanconi Anemia |
|
Abnormality of the uterus, Atrial septal defect, Hypospadias, Cryptorchidism, Azoospermia, Decrea... |
ORPHA:84 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema |
ORPHA:33001 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cachexia, Cardiomegaly |
ORPHA:42 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Ventricular septal defect, Hypospadias, Cryptorchidism, Vesicour... |
ORPHA:2745 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Predominantly lower limb lymphedema |
OMIM:604121 |
| Zttk Syndrome |
|
Ventricular septal defect, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Atrial septal d... |
OMIM:617140 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
| Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Facial edema, Lar... |
ORPHA:100050 |
| Igg4-Related Ophthalmic Disease |
|
Periorbital edema, Palpebral edema, Lymphadenopathy |
ORPHA:449563 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Failure to thrive, Ventricular septal defect, Mitral atresia, Unilateral renal agenesis, Cryptorc... |
OMIM:619503 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
| Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Hypospadias, Ventricular septal defect, Renal agenesis, Larg... |
OMIM:229850 |
| Granulomatosis With Polyangiitis |
|
Periorbital edema, Weight loss |
ORPHA:900 |
| Ogden Syndrome |
|
Infra-orbital crease, Lymphedema, Postnatal growth retardation, Oligohydramnios, Pulmonary edema |
OMIM:300855 |
| Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard... |
ORPHA:79328 |
| Proboscis Lateralis |
|
Ventricular septal defect, External genital hypoplasia, Unilateral renal agenesis, Ureteral agene... |
ORPHA:141099 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Failure to thrive |
ORPHA:99931 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Abnormal renal physiology, Cardiomegaly |
OMIM:266500 |
| Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Bifid uterus... |
ORPHA:2729 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
| Sunct Syndrome |
|
Facial edema, Palpebral edema |
ORPHA:57145 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Hypospadia... |
OMIM:265380 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Lymphedema |
ORPHA:79280 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Lymphedema |
ORPHA:536471 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Primary amenorrhea, Hypoplasia of the uterus |
ORPHA:785 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly |
OMIM:255120 |
| Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Abnormality of the ureter, Uterus didelphys, Aplasia of the bladder, Bicornuate u... |
OMIM:200980 |
| Classic Galactosemia |
|
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Decreased fertility in females, ... |
ORPHA:79239 |
| Monosomy 22Q13.3 |
|
Palpebral edema, Obesity, Lymphedema |
ORPHA:48652 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypo... |
OMIM:107480 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Acro-Renal-Mandibular Syndrome |
|
Bicornuate uterus, Uterus didelphys, Renal hypoplasia/aplasia |
ORPHA:958 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... |
ORPHA:228308 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Abnormal ovarian physiology,... |
ORPHA:90794 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus, Polycystic kidney dysplasia, Single ventricle |
OMIM:619879 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Abnormality of... |
ORPHA:391428 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Schneckenbecken Dysplasia |
|
Polyhydramnios, Lymphedema |
ORPHA:3144 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Cryptorchid... |
OMIM:308205 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
| Oculoectodermal Syndrome |
|
Lymphedema |
OMIM:600268 |
| Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Small for gestation... |
OMIM:600901 |
| Noonan Syndrome 1 |
|
Postnatal growth retardation, Failure to thrive in infancy, Chylothorax, Lymphedema |
OMIM:163950 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... |
ORPHA:8 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Cardiomegaly, Hypertrophic c... |
OMIM:201475 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Small scrotum, Hypoplastic labia minora, Hypoplastic... |
OMIM:269150 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Cryptor... |
ORPHA:3427 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
| Microsporidiosis |
|
Cachexia, Myocarditis, Prostatitis, Urethritis, Abnormal endometrium morphology, Endocarditis, We... |
ORPHA:2552 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:609441 |
| Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular canal defect, Sti... |
OMIM:236680 |
| Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Priapism |
OMIM:603903 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Neonatal death, Micrope... |
OMIM:617925 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... |
OMIM:271520 |
| Woodhouse-Sakati Syndrome |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Renal malrotation |
OMIM:615866 |
| Autosomal Dominant Cutis Laxa |
|
Bladder diverticulum, Dilatation of the ventricular cavity, Unilateral renal agenesis, Pyelonephr... |
ORPHA:90348 |
| Fabry Disease |
|
Lymphedema |
ORPHA:324 |
| Ciliary Dyskinesia, Primary, 9 |
|
Situs inversus totalis, Male infertility |
OMIM:612444 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus, Renal hypoplasia/aplasia |
ORPHA:1788 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Kanzaki Disease |
|
Lymphedema |
OMIM:609242 |
| Sandhoff Disease |
|
Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Impotence |
OMIM:268800 |
| Proteus Syndrome |
|
Thymus hyperplasia, Cachexia, Lymphedema, Neoplasm of the thymus, Splenomegaly, Lymphangioma |
ORPHA:744 |
| Ciliary Dyskinesia, Primary, 18 |
|
Situs inversus totalis, Male infertility, Immotile sperm |
OMIM:614874 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Postnatal growth retardation, Failure to thrive in infancy, Obesity, Lymphedema |
ORPHA:99413 |
| Turner Syndrome |
|
Postnatal growth retardation, Failure to thrive in infancy, Obesity, Lymphedema |
ORPHA:881 |
| Mosaic Monosomy X |
|
Postnatal growth retardation, Failure to thrive in infancy, Obesity, Lymphedema |
ORPHA:99228 |
| Monosomy X |
|
Postnatal growth retardation, Failure to thrive in infancy, Obesity, Lymphedema |
ORPHA:99226 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Bilateral renal dysplasia, Unilateral renal agenesis, Horseshoe kid... |
ORPHA:500150 |
| Familial Thyroid Dyshormonogenesis |
|
Facial edema |
ORPHA:95716 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Predominantly lower limb lymphedema |
ORPHA:314404 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Premature ovarian insufficiency, Hypoplasia of th... |
ORPHA:3464 |
| Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Bilateral cryptorchidism, Absent external genitalia, Hypoplastic labia majora, Bi... |
OMIM:263650 |
| Ciliary Dyskinesia, Primary, 14 |
|
Situs inversus totalis, Reduced sperm motility, Male infertility, Immotile sperm |
OMIM:613807 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Impotence, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega... |
OMIM:602782 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal atrial arrangement, Atrial situs ambiguous, Female infertility, Situs ... |
ORPHA:244 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Urogenital sinus anomaly, Chordee, G... |
OMIM:618820 |
| Fucosidosis |
|
Hepatomegaly, Failure to thrive, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, Hypospadias, Ovotestis, Sex... |
OMIM:611812 |
| Penile Agenesis |
|
Ambiguous genitalia, Urethral atresia, male, Ventricular septal defect, Hydroureter, Cryptorchidi... |
ORPHA:49 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Male infertility |
OMIM:619607 |
| Mogs-Cdg |
|
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, At... |
ORPHA:79330 |
| Williams Syndrome |
|
Periorbital edema, Increased nuchal translucency, Failure to thrive in infancy, Obesity |
ORPHA:904 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve mo... |
ORPHA:857 |
| Fraser Syndrome 1 |
|
Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypoplasia, Abnormal heart morpholog... |
OMIM:219000 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Cardiomegaly |
OMIM:613320 |
| Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Renal agenesis, Bifid uterus, Cryptorchidism, Stillbirth, Transpositio... |
OMIM:256520 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Cryptorchidism, Re... |
ORPHA:2052 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Ventricular septal defect, Dilatation of the renal pelvi... |
OMIM:274000 |
| Fountain Syndrome |
|
Facial edema |
ORPHA:3219 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Facial edema, Polyhydramnios |
ORPHA:86822 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Failure to... |
ORPHA:137675 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:308552 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Hydronephrosis |
OMIM:614921 |
| Rhombencephalosynapsis |
|
Abnormal renal morphology, Abnormality of the uterus |
ORPHA:59315 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility... |
ORPHA:572333 |
| Acute Generalized Exanthematous Pustulosis |
|
Facial edema, Lymphadenopathy |
ORPHA:293173 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Agonad... |
ORPHA:2232 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly |
OMIM:619259 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Male infertility |
OMIM:614935 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
| Lassa Fever |
|
Facial edema |
ORPHA:99824 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Decreased body weight, Neonatal death |
OMIM:608013 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Large for gestational age, Sple... |
ORPHA:116 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Facial edema, Xerostomia, Weight loss, Lymphadenopathy, Periorbital fullness |
ORPHA:79078 |
| Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... |
ORPHA:709 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Small for gestational age, Cryptor... |
OMIM:201750 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Hypercalciuria |
ORPHA:2239 |
| Cystinosis, Nephropathic |
|
Male infertility, Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Fa... |
OMIM:219800 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Thoracoabdominal Syndrome |
|
Ectopia cordis, Renal agenesis, Transposition of the great arteries, Hypospadias |
OMIM:313850 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Splenomegaly, Cryptorchid... |
OMIM:249000 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin... |
OMIM:130050 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria, Failure to thrive |
OMIM:230000 |
| Ulnar-Mammary Syndrome |
|
Small scrotum, Ventricular septal defect, Obesity, Bicornuate uterus, Shawl scrotum, Micropenis, ... |
OMIM:181450 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Unilateral renal agenesis, Secundum atrial septal defect, Subarterial ventricular septal defect, ... |
ORPHA:99646 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cryptorchidism, Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Uterus... |
ORPHA:93271 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| 22Q11.2 Deletion Syndrome |
|
Failure to thrive, Ventricular septal defect, Abnormal pulmonary valve morphology, Hypospadias, S... |
ORPHA:567 |
| Waardenburg Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus |
ORPHA:3440 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Ventricular septal defect, Cryptorch... |
OMIM:261540 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Facial edema, Failure to thrive |
ORPHA:90674 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:232300 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse, Ventricular septal defect |
OMIM:123700 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Fai... |
OMIM:252500 |
| Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Abnormality of the kidney, Enlarged polycystic ... |
ORPHA:201 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ... |
ORPHA:3472 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... |
OMIM:300967 |
| Coffin-Siris Syndrome 1 |
|
Hydroureter, Ventricular septal defect, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypopl... |
OMIM:135900 |
| Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Horses... |
OMIM:268300 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Mucopolysaccharidur... |
ORPHA:581 |
| Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Renal hypoplasia, Bicornuate uterus, Vesicoureteral reflux, Hydronephrosis |
ORPHA:2363 |
| Chikungunya |
|
Facial edema, Cervical lymphadenopathy, Pedal edema, Lymphadenopathy, Joint swelling |
ORPHA:324625 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Precocious puberty, Cryptorch... |
ORPHA:438213 |
| Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... |
ORPHA:95430 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Cardiomegaly |
ORPHA:2463 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Severe failure to thrive, Ne... |
ORPHA:97297 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Left atrial enlargem... |
OMIM:619991 |
| Rothmund-Thomson Syndrome |
|
Facial edema, Small for gestational age |
ORPHA:2909 |
| Limb-Mammary Syndrome |
|
Primary amenorrhea, Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Abnormal heart valve morphology, Cryptorchidism, Cystocele, Renovascular hypertensio... |
ORPHA:286 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:365 |
| Rothmund-Thomson Syndrome Type 1 |
|
Facial edema, Small for gestational age |
ORPHA:221008 |
| Wolf-Hirschhorn Syndrome |
|
Ventricular septal defect, Hypospadias, Small for gestational age, Precocious puberty, Cryptorchi... |
OMIM:194190 |
| Cornelia De Lange Syndrome |
|
Multicystic kidney dysplasia, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Renal ... |
ORPHA:199 |
| Norrie Disease |
|
Cachexia, Cryptorchidism, Erectile dysfunction, Uterine rupture, Failure to thrive |
ORPHA:649 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Ciliary Dyskinesia, Primary, 1 |
|
Situs inversus totalis, Male infertility |
OMIM:244400 |
| Rothmund-Thomson Syndrome Type 2 |
|
Facial edema, Small for gestational age |
ORPHA:221016 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Failure to thrive |
OMIM:618278 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis, Cardiomegaly |
ORPHA:51 |
| Pmm2-Cdg |
|
Pericardial effusion, Failure to thrive, Anasarca, Lymphedema |
ORPHA:79318 |
| Bloom Syndrome |
|
Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Small for ... |
ORPHA:125 |
| Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Cor pulmonale, Hypercalciuria, Hepatosplenomegaly, Failure to thrive |
OMIM:219700 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Abetalipoproteinemia |
|
Hepatomegaly, Failure to thrive, Cardiomegaly |
ORPHA:14 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Facial edema, Overweight |
ORPHA:226307 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Epididymitis, Irregular menstruation, Failure to thrive |
OMIM:256040 |
| Classical Ehlers-Danlos Syndrome |
|
Cervical insufficiency, Mitral valve prolapse, Bladder diverticulum, Tricuspid valve prolapse, Ut... |
ORPHA:287 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Aneurysm-Osteoarthritis Syndrome |
|
Uterine prolapse, Abnormal heart morphology, Pulmonic stenosis, Left ventricular hypertrophy, Abn... |
ORPHA:284984 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Failure to thrive in infancy, Cardiomegaly, Pericardi... |
ORPHA:51608 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ... |
ORPHA:75565 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
| Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Uterine prolapse, Bicuspid aortic valve, Cystocele, Mitral valve prolaps... |
OMIM:613795 |
| Pallister-Killian Syndrome |
|
Small scrotum, Ventricular septal defect, Hypospadias, Cryptorchidism, Obesity, Renal cyst, Hypop... |
OMIM:601803 |
| Coffin-Lowry Syndrome |
|
Uterine prolapse, Decreased body weight |
OMIM:303600 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
