| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Jaundice, Elevated circulating hepatic transaminase concentration, Cirrhosis, Tu... |
OMIM:619902 |
| Polycystic Kidney Disease 5 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... |
OMIM:617610 |
| Immunodeficiency 24 |
|
Defective T cell proliferation, Partial absence of specific antibody response to tetanus vaccine,... |
OMIM:615897 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia... |
OMIM:617805 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Nephronophthisis 16 |
|
Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,... |
OMIM:615382 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... |
OMIM:613496 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Congenital Megacalycosis |
|
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... |
ORPHA:93109 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol... |
OMIM:263200 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Ectopic kidney, Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus, Renal agenesis,... |
ORPHA:2578 |
| Immunodeficiency 11A |
|
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... |
OMIM:615206 |
| Nephronophthisis 3 |
|
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr... |
OMIM:604387 |
| Caspase 8 Deficiency |
|
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... |
OMIM:607271 |
| Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
| Denys-Drash Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis, Enlarged kidney, Ambiguous genitalia, female, Male... |
OMIM:194080 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating total IgM, Increased circulating IgE level, Increased circulating interleuk... |
OMIM:618944 |
| Aa Amyloidosis |
|
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr... |
ORPHA:85445 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Intestinal malrotation,... |
OMIM:208540 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Hepatomegaly, Splenomegaly |
OMIM:615285 |
| Caudal Duplication Anomaly |
|
Uterus didelphys, Ureteral duplication |
OMIM:607864 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Cleft palate, Hyperechogenic kidneys, Ambiguous gen... |
OMIM:613885 |
| Renal Dysplasia |
|
Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure... |
ORPHA:93108 |
| Serrated Polyposis Syndrome |
|
Ovarian neoplasm, Gastric diverticulum, Colorectal polyposis, Adenomatous colonic polyposis, Pros... |
ORPHA:157798 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bifid uvula, Bicornuate uterus |
OMIM:258320 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... |
OMIM:606843 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy... |
OMIM:277000 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Cleft ... |
OMIM:601076 |
| Rudiger Syndrome |
|
Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
| Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... |
OMIM:114500 |
| Caudal Duplication |
|
Ureteral duplication, Renal hypoplasia/aplasia, Intestinal duplication, Cryptorchidism, Uterus di... |
ORPHA:1756 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... |
ORPHA:730 |
| 46,Xy Sex Reversal 3 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
| Reticular Dysgenesis |
|
Lack of T cell function, Impaired T cell function |
OMIM:267500 |
| Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... |
OMIM:602088 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati... |
OMIM:615415 |
| Duplication Of Urethra |
|
Clitoral hypertrophy, Urinary incontinence, Anorectal anomaly, Bifid scrotum, Bladder duplication... |
ORPHA:237 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Testicular seminoma, Hypogonadism, Abnormal stomach morphology, Crypto... |
ORPHA:281090 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Partial vaginal septum, Uterus didelphys, Hydrocolpos, Renal agenesis, Abnormal uterine cervix mo... |
ORPHA:3411 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of the uterus, ... |
OMIM:194072 |
| Lumbar Syndrome |
|
Hypospadias, Ectopic anus, Vesicoureteral reflux, Bifid scrotum, Anal atresia, Renal agenesis, Bi... |
ORPHA:83628 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... |
OMIM:619632 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Acute kidney injury, Jaundice, Elevated circulating hepatic transaminase con... |
ORPHA:93111 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Cleft palate, Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
| Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatocellular... |
OMIM:613490 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hematuria, Unilateral renal dysplasia, Aplasia of the vagina, Aplasia of the uterus, Uterus didel... |
OMIM:146255 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
| Prune Belly Syndrome |
|
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... |
ORPHA:2970 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Enlarged kidney, Gastrointestinal hemorrhage, Cholestasis, Biliary hyperplasia, Splenomegaly, Abn... |
ORPHA:731 |
| Immunodeficiency 18 |
|
Decreased circulating total IgM, Decreased circulating total IgA, Abnormal circulating IgG level,... |
OMIM:615615 |
| Immunodeficiency, Common Variable, 2 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... |
OMIM:240500 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Narrow palate, Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase c... |
OMIM:608836 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:620430 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Tyrosinemia, Type I |
|
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Cirrhosis, Elevated circulating hepa... |
OMIM:276700 |
| Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Abnormal circulating interleukin concentration, I... |
ORPHA:70578 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated circulating hepatic transaminase concentration, Multiple glomerular cysts, Abnormal rena... |
OMIM:137920 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, High palate, Anal atresia, Hypergonadotropic hypogo... |
OMIM:154230 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... |
OMIM:266810 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Esophageal atresia, Tracheoesophageal fistula, Anal atresia, Hydronephrosis, Ure... |
OMIM:314390 |
| Dubin-Johnson Syndrome |
|
Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Abnormalit... |
ORPHA:234 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Hypoplasia of the small intestine, Polysplenia, Hypoplastic colon,... |
OMIM:200995 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ... |
ORPHA:1916 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... |
ORPHA:540 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Anal atresia, Bifid uterus, Crossed fus... |
OMIM:617466 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity |
OMIM:614493 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity |
OMIM:607624 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G... |
OMIM:273250 |
| Oeis Complex |
|
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... |
OMIM:258040 |
| Acute Lung Injury |
|
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, A... |
ORPHA:178320 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased... |
OMIM:232220 |
| Diaphanospondylodysostosis |
|
Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Cleft palate, ... |
OMIM:608022 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp... |
ORPHA:2470 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... |
ORPHA:168563 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Multicystic Dysplastic Kidney |
|
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... |
ORPHA:1851 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Unilateral renal agenesis, Vesicoureteral reflux, Bicornuate uterus, Ambiguous genitalia, female,... |
OMIM:606408 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Polycystic kidney dysplasia, Anal atresia, Intestinal malrotation, Cleft palate,... |
OMIM:613091 |
| Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Elevated circulating... |
ORPHA:64743 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Decreased T cell activation, Decreased CD6... |
OMIM:300853 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... |
OMIM:614841 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... |
OMIM:607594 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Macrogl... |
OMIM:130650 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased... |
OMIM:232200 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Donnai-Barrow Syndrome |
|
Intestinal malrotation, Proteinuria, Bicornuate uterus, Abnormality of the uterus |
ORPHA:2143 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Meckel Syndrome 12 |
|
Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Bifid uvula, Vaginal atresia, Hy... |
OMIM:616258 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Focal segmental glomeruloscleros... |
OMIM:617303 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechogenic kidneys, Vaginal at... |
OMIM:617914 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... |
OMIM:614837 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Leydig Cell Hypoplasia |
|
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... |
ORPHA:755 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Stomach cancer, Colorectal polyposis, Ovarian dermoid cyst, Renal cyst, C... |
ORPHA:480536 |
| Vaginal Atresia |
|
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... |
ORPHA:65681 |
| Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus |
OMIM:612964 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Bicornuate uterus, Proteinuria, Vaginal atresia, Renal dysplasia |
OMIM:191830 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... |
ORPHA:325124 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Enlarged kidney, Hepatocellular adenoma, Pancreatitis, Hepatomegaly, Increased hepatic glycogen c... |
ORPHA:79259 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... |
OMIM:158330 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
| Igg4-Related Kidney Disease |
|
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder... |
ORPHA:449395 |
| Nephronophthisis 13 |
|
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... |
OMIM:614377 |
| Exstrophy-Epispadias Complex |
|
Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Cystocele... |
ORPHA:322 |
| Currarino Syndrome |
|
Perianal abscess, Urinary incontinence, Anal stenosis, Rectovaginal fistula, Recurrent urinary tr... |
OMIM:176450 |
| Macrophage Activation Syndrome |
|
Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent... |
ORPHA:158061 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Polycystic kidney dysplasia, Aplasia of the uterus, Vesicoureteral ref... |
ORPHA:2237 |
| Aicardi-Goutieres Syndrome 6 |
|
Increased circulating Interferon-alpha concentration |
OMIM:615010 |
| Meacham Syndrome |
|
Blind vagina, Enlarged kidney, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, S... |
OMIM:608978 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Uterus didelphys, Hypoplasia of penis |
ORPHA:2491 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... |
OMIM:233420 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis, Gastroesophageal reflux, Splenic cyst, Ovarian cyst |
OMIM:618188 |
| Alg9-Cdg |
|
Enlarged kidney, Hepatomegaly, Gastroesophageal reflux, Periportal fibrosis, Hypoplasia of the ov... |
ORPHA:79328 |
| Fryns Microphthalmia Syndrome |
|
Bilateral cleft palate, Unicornuate uterus |
OMIM:600776 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,... |
OMIM:618280 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal t... |
ORPHA:1834 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology, Peritonitis, Gonadal ... |
ORPHA:314478 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Renal hypoplasia/aplasia, Esophageal atresia, Rectovaginal fistula, Gastroesophagea... |
ORPHA:2538 |
| Familial Adenomatous Polyposis 4 |
|
Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis, Uterine leiomyom... |
OMIM:617100 |
| Perrault Syndrome 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Abnormality of the kidney, Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of t... |
ORPHA:3109 |
| Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hypospadias, Median cleft palate, Microphallus, Hyperechogenic kidneys, Small sc... |
OMIM:612651 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... |
OMIM:619774 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Renal agenesis, Cleft palate, Hypoplasia of... |
ORPHA:247768 |
| Renal Agenesis |
|
Absent vas deferens, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral rena... |
ORPHA:411709 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve... |
OMIM:601859 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Leprechaunism |
|
Clitoral hypertrophy, Enlarged kidney, Hepatomegaly, Rectal prolapse, Long penis, Hypercalciuria,... |
ORPHA:508 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... |
OMIM:400045 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Bicornuate uterus, Periportal fibrosis |
OMIM:263210 |
| Partial Androgen Insensitivity Syndrome |
|
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu... |
ORPHA:90797 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology |
ORPHA:2978 |
| Omodysplasia 2 |
|
Hypospadias, Gastroesophageal reflux, Labial hypoplasia, Clitoral hypoplasia, Uterus didelphys, C... |
OMIM:164745 |
| Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Splenomegaly, Aminoaciduria, Hepatic failure |
ORPHA:664 |
| H Syndrome |
|
Abnormality of the kidney, Enlarged kidney, Azoospermia, Decreased testicular size, Hepatosplenom... |
ORPHA:168569 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Gastric varix, Esophageal varix, Portal hypertension, Splenomegaly, Nodular regenerative hyperpla... |
OMIM:620367 |
| Chromosome 17Q12 Deletion Syndrome |
|
Elevated circulating hepatic transaminase concentration, Unilateral renal agenesis, Aplasia of th... |
OMIM:614527 |
| Fryns Syndrome |
|
Aganglionic megacolon, Hypospadias, Gastroesophageal reflux, Ectopic anus, Vesicoureteral reflux,... |
ORPHA:2059 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Lar... |
ORPHA:220460 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney, Hydrocele testis |
ORPHA:276280 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria |
ORPHA:251004 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase... |
OMIM:308230 |
| Hand-Foot-Genital Syndrome |
|
Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Bicornuate uterus, Ureter... |
ORPHA:2438 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... |
ORPHA:99429 |
| 46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... |
OMIM:278850 |
| Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Cleft palate, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:615300 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:612310 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Abnormal spleen morphology, Hepatosplenomegaly, Splenomegaly, Multiple renal cys... |
ORPHA:464329 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Protein-losing enteropathy, Abnormal fallopian tube morphology, Abnormal renal morp... |
ORPHA:1655 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clitoral hypertrophy, Ectopic kidney, Labial hypoplasia, Vesicoureteral reflux, Bicornuate uterus... |
ORPHA:140952 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619203 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Ureteral duplication, Large intestinal polyposis, Multiple renal cysts, Splenome... |
ORPHA:116 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619665 |
| Hardikar Syndrome |
|
Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, B... |
OMIM:301068 |
| Hand-Foot-Genital Syndrome |
|
Hypospadias, Longitudinal vaginal septum, Renal insufficiency, Vesicoureteral reflux, Bifid scrot... |
OMIM:140000 |
| Beaulieu-Boycott-Innes Syndrome |
|
Unilateral renal agenesis, Endometriosis, Recurrent urinary tract infections, Velopharyngeal insu... |
OMIM:613680 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Clitoral hypertrophy, Hydroureter, Rectovaginal fistula, Labial hypoplasia, Pelvic kidney, Vesico... |
OMIM:300707 |
| Vacterl/Vater Association |
|
Abnormality of the gallbladder, Abnormality of the pancreas, Hypospadias, Ectopic kidney, Hypopla... |
ORPHA:887 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Bifid uterus, Cleft palate, Cleft soft palate |
ORPHA:2736 |
| Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... |
ORPHA:3130 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Pyloric stenosis, Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Recurrent gastroenteritis, ... |
ORPHA:505248 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Hepatomegaly, Biliary atresia, Posteriorly placed anus, Polysplenia, Asplenia, R... |
OMIM:306955 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Multilobulated spleen, Pelvic kidney, Bicornuate uterus, Renal hypoplasia, Hyd... |
OMIM:601186 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon... |
ORPHA:432 |
| Nephrotic Syndrome, Type 1 |
|
Glomerular sclerosis, Gastroesophageal reflux, Congenital nephrotic syndrome, Pyloric stenosis, R... |
OMIM:256300 |
| Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia, Abnormal peritoneum morpho... |
ORPHA:2357 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Pylo... |
OMIM:300048 |
| Systemic Sclerosis |
|
Acute kidney injury, Abnormality of the kidney, Abnormal stomach morphology, Abnormality of the g... |
ORPHA:90291 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Abnormality of B cell physiology, Cut... |
OMIM:600802 |
| Cloacal Exstrophy |
|
Renal hypoplasia/aplasia, Abnormal clitoris morphology, Ectopic kidney, Abnormal fallopian tube m... |
ORPHA:93929 |
| Pseudotrisomy 13 Syndrome |
|
Bicornuate uterus, Anal atresia, Median cleft palate, Renal agenesis, Renal hypoplasia, Cryptorch... |
OMIM:264480 |
| Rhombencephalosynapsis |
|
Aganglionic megacolon, Esophageal atresia, Abnormal renal morphology, Tracheoesophageal fistula, ... |
ORPHA:59315 |
| Fryns Syndrome |
|
Ureteral duplication, Aganglionic megacolon, Hypospadias, Esophageal atresia, Meckel diverticulum... |
OMIM:229850 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly, Macroglossia |
OMIM:252500 |
| Mosaic Trisomy 9 |
|
Hypoplastic female external genitalia, Abnormal liver lobulation, Abnormal fallopian tube morphol... |
ORPHA:99776 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia |
OMIM:209920 |
| Craniofacial Dyssynostosis With Short Stature |
|
Pyloric stenosis, Cryptorchidism, Horseshoe kidney, Hypospadias |
OMIM:218350 |
| Ogden Syndrome |
|
Narrow palate, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Polycystic kidney dys... |
OMIM:300855 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the kidney, Unilateral renal agenesis, Hypospadias, Endometriosis, Recurrent urina... |
ORPHA:363444 |
| Acro-Renal-Mandibular Syndrome |
|
Renal hypoplasia/aplasia, High palate, Bicornuate uterus, Tracheoesophageal fistula, Uterus didel... |
ORPHA:958 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration |
ORPHA:85435 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti... |
ORPHA:2494 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Anal atresia, Clitoral hypoplasi... |
OMIM:618419 |
| Nk-Cell Enteropathy |
|
Duodenal ulcer, Gastroesophageal reflux, Abnormal gastric mucosa morphology, Colonic diverticula,... |
ORPHA:263665 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Cryptorchidism, Congenital pyloric atresia |
ORPHA:2617 |
| Donnai-Barrow Syndrome |
|
Intestinal malrotation, Proteinuria, Non-acidotic proximal tubulopathy, Bicornuate uterus |
OMIM:222448 |
| Sweet Syndrome |
|
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... |
ORPHA:3243 |
| Smith-Lemli-Opitz Syndrome |
|
Cholestatic liver disease, Bifid scrotum, Intestinal malrotation, Bifid uvula, Splenomegaly, Smal... |
OMIM:270400 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... |
OMIM:202010 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Increased circulating IgG level, Increased circulating IgA leve... |
OMIM:603909 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Fanconi Anemia |
|
Renal hypoplasia/aplasia, Meckel diverticulum, Abnormal renal morphology, Tracheoesophageal fistu... |
ORPHA:84 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enlarged kidney, High, narrow palate, Gastroesophageal reflux, Recurrent urinary tract infections... |
OMIM:615873 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Hematuria, Aplasia of the bladder, Congenital pyloric atresia, Ureterocele, Hydronephrosis, Renal... |
ORPHA:79403 |
| Opitz Gbbb Syndrome |
|
Hypospadias, Ectopic anus, Vesicoureteral reflux, Bifid scrotum, Bicornuate uterus, Tracheoesopha... |
ORPHA:2745 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Abnormal circulating interleukin concentration |
ORPHA:319552 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Ovotestis, Anal atresia, Chordee, Cleft palate, Colonic atresi... |
OMIM:309801 |
| Reynolds Syndrome |
|
Cirrhosis, Jaundice, Hepatomegaly, Gastroesophageal reflux, Abnormal gastric mucosa morphology, D... |
ORPHA:779 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Pyloric stenosis, High palate, Bilateral cryptorchidism |
ORPHA:314575 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow palate, Enlarged kidney, Hepatomegaly, Hypospadias, Meckel diverticulum, Exaggerated media... |
OMIM:312870 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Urinary incontinence, Hemobilia, Abnormal duodenum morphology, Neopl... |
ORPHA:512 |
| Interstitial Cystitis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:37202 |
| Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormal circulating cytokine concentration, Abnormal circulating interleukin concentration, Incr... |
ORPHA:542323 |
| Acrorenal-Mandibular Syndrome |
|
Narrow palate, Polycystic kidney dysplasia, Aplasia of the bladder, Bicornuate uterus, High palat... |
OMIM:200980 |
| Zellweger Syndrome |
|
Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, High palate, Pyloric stenosis, Hydrone... |
ORPHA:912 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Esophageal atresia, Aplasia of the uterus, Tracheoesophageal fistula, ... |
OMIM:614083 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Bifid uvula, Cleft palate, Hypoplasia of the vagina, Small scrotum, Cryptorchidism... |
OMIM:119500 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Anal atresia, Hydronephrosis, Urethral atresia, Abs... |
OMIM:271520 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ectopic anus, Anal atresia, Pyloric stenosis, Renal hypoplasia, Abnormality ... |
ORPHA:3138 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating antibody level, ... |
ORPHA:572 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... |
ORPHA:90796 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Abnormality of the kidney, Aplasia of the uterus, Cleft palate, Axial malrotation of the kidney, ... |
ORPHA:3320 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... |
ORPHA:90793 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia, M... |
ORPHA:500095 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Increased circulating interferon-gamma concentration, Abnormal circulating interleukin concentration |
ORPHA:85410 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Enlarged kidney, Macroglossia |
OMIM:261740 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... |
ORPHA:168558 |
| Waardenburg Syndrome |
|
Intestinal obstruction, Abnormality of the gastrointestinal tract, Aganglionic megacolon, Abnorma... |
ORPHA:3440 |
| Estrogen Resistance |
|
Polycystic ovaries, Hypoplasia of the uterus |
OMIM:615363 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... |
ORPHA:289548 |
| Townes-Brocks Syndrome 1 |
|
Anal stenosis, Hypospadias, Rectovaginal fistula, Renal insufficiency, Gastroesophageal reflux, V... |
OMIM:107480 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
High palate, Renal malrotation, Hypoplasia of the uterus |
OMIM:615866 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal circulating interferon-gamma concentration, Abnormal circulating interleukin concentrati... |
ORPHA:79124 |
| Microsporidiosis |
|
Urethritis, Prostatitis, Pancreatitis, Cholangitis, Abnormal fallopian tube morphology, Abnormali... |
ORPHA:2552 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... |
ORPHA:1876 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Ileal atresia, Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, C... |
OMIM:618820 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Anal atresia, Uterus didelphys, Cleft palate, Absent gallbladder, Septate vagina, Hamartoma of to... |
OMIM:617925 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Partial IgA deficiency, Decreased circulating IgG level, Decreased circu... |
ORPHA:35078 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Hydroureter, Hypospadias, Esophageal atresia, Meckel diverticulum, Dilatation o... |
OMIM:265380 |
| Teebi Hypertelorism Syndrome 1 |
|
Shawl scrotum, Bicornuate uterus, Hydrocele testis |
OMIM:145420 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Esophageal atresia, Hypoplasia of penis, Ectopic anus, Renal cyst, Anal atresia, Uterus didelphys... |
ORPHA:93271 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Impaired T cell function |
OMIM:614576 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Abnormal circulating interleukin concentration |
ORPHA:101096 |
| Congenital Tracheal Stenosis |
|
Abnormality of the kidney, Meckel diverticulum, Abnormal gastrointestinal tract morphology, Trach... |
ORPHA:141127 |
| Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Enlarged polycystic ovaries |
ORPHA:785 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus, Polycystic kidney dysplasia |
OMIM:619879 |
| Pagod Syndrome |
|
Renal hypoplasia/aplasia, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality o... |
ORPHA:991 |
| Okamoto Syndrome |
|
Urinary incontinence, Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, I... |
ORPHA:2729 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Hydroureter, Hypospadias, Hypoplastic labia minora, Bicornuate uterus, Ureteral stenosis, Splenop... |
OMIM:269150 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Glomerular sclerosis, Aplasia of the bladder, Congenital pyloric atresia, Ureterocele, Hydronephr... |
ORPHA:158684 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration |
ORPHA:363558 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
| Bartsocas-Papas Syndrome 1 |
|
Anal stenosis, Ectopic kidney, Hypoplastic labia majora, Hypoplastic male external genitalia, Bic... |
OMIM:263650 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgG level, Defective T cell proliferation, Increased circulating IgE level,... |
OMIM:618213 |
| Fraser Syndrome |
|
Renal hypoplasia/aplasia, Anal stenosis, Hypospadias, Anorectal anomaly, Hypoplasia of penis, Abn... |
ORPHA:2052 |
| Phocomelia, Schinzel Type |
|
High, narrow palate, Hypoplasia of penis, Aplasia of the uterus, Tracheoesophageal fistula, Anal ... |
ORPHA:2879 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Abnormal circulating interleukin concentration |
ORPHA:158057 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Renal hypoplasia/aplasia, Abnormality of the uterus |
ORPHA:1788 |
| Proteus Syndrome |
|
Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Enlarged polycystic ovaries, ... |
ORPHA:744 |
| Autoimmune Lymphoproliferative Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Incr... |
ORPHA:3261 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
High palate, Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
| Meckel Syndrome, Type 1 |
|
Ambiguous genitalia, male, External genital hypoplasia, Cystic renal dysplasia, Accessory spleen,... |
OMIM:249000 |
| Esophageal Atresia |
|
Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Abnormal ... |
ORPHA:1199 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
| 46,Xx Gonadal Dysgenesis |
|
Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary |
ORPHA:243 |
| Fraser Syndrome 1 |
|
Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypospadias, Bicornuate uterus, Renal hypoplasia,... |
OMIM:219000 |
| Woodhouse-Sakati Syndrome |
|
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr... |
OMIM:241080 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal circulating interleukin concentration |
ORPHA:69665 |
| Marden-Walker Syndrome |
|
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... |
ORPHA:2461 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased T cell activation |
ORPHA:66628 |
| Immunodeficiency 58 |
|
Decreased circulating antibody level, Decreased T cell activation, Decreased specific antibody re... |
OMIM:618131 |
| Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Tracheoesophageal fistula, Pyloric stenosis, Splenomegaly |
ORPHA:379 |
| Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
| Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t... |
ORPHA:3464 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Renal malrotation, Ureteral duplication, Meckel diverticulum, Aplasia of the uterus, Vesicoureter... |
OMIM:274000 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long... |
ORPHA:90794 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased T cell activation |
ORPHA:179494 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Accessory spleen, Abnormal vagina morphology, Bifid uterus, Hydronephrosis, Cleft pa... |
OMIM:236680 |
| Hereditary Orotic Aciduria |
|
Impaired T cell function |
ORPHA:30 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
High palate, Hypoplasia of the uterus |
OMIM:110100 |
| Pontocerebellar Hypoplasia Type 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, High ... |
ORPHA:284339 |
| Postaxial Acrofacial Dysostosis |
|
Abnormality of the kidney, Midgut malrotation, Pyloric stenosis, Cleft palate, Cryptorchidism, Mi... |
OMIM:263750 |
| Ulnar-Mammary Syndrome |
|
Anal stenosis, Imperforate hymen, Bicornuate uterus, Anal atresia, Pyloric stenosis, Small scrotu... |
OMIM:181450 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Reduced delayed hypersensitivity |
OMIM:242700 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Impaired T cell function, Abnormality of B cell physiology, Decreased lymphocyte proliferation in... |
OMIM:613179 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Unilateral renal agenesis, Bicornuate uterus, Velopharyngeal insufficiency... |
OMIM:154400 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... |
OMIM:201750 |
| Cowden Syndrome |
|
Abnormality of the kidney, Abnormal penis morphology, Colorectal polyposis, Renal cell carcinoma,... |
ORPHA:201 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function |
OMIM:201100 |
| Schimke Immuno-Osseous Dysplasia |
|
Bone marrow hypocellularity, Abnormal lymphocyte physiology, Impaired T cell function |
ORPHA:1830 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina |
ORPHA:457284 |
| Peters Plus Syndrome |
|
Ureteral duplication, Renal hypoplasia/aplasia, Hypospadias, Multicystic kidney dysplasia, Anal a... |
ORPHA:709 |
| Townes-Brocks Syndrome |
|
Abnormality of the kidney, Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal vagin... |
ORPHA:857 |
| Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Abnormal delayed hypersensitivity skin tes... |
OMIM:301000 |
| Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Clitoral hypertrophy, Hydroureter, Hypospadias, Ectopic kidney, Aplasia of the ut... |
OMIM:135900 |
| Hermansky-Pudlak Syndrome 6 |
|
Urinary incontinence, Endometriosis, Recurrent urinary tract infections, Neurogenic bladder, Peri... |
OMIM:614075 |
| Lacrimoauriculodentodigital Syndrome |
|
Abnormal salivary gland morphology, Vesicoureteral reflux, Bicornuate uterus, Renal hypoplasia, H... |
ORPHA:2363 |
| Peters-Plus Syndrome |
|
Bilobate gallbladder, Ureteral duplication, Hypospadias, Anteriorly placed anus, Clitoral hypopla... |
OMIM:261540 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Aganglionic megacolon, Hypospadias, Cholelithiasis, Anorectal anomal... |
ORPHA:567 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Unilateral renal agenesis, Cleft soft palate, Pelvic kidney, Esophageal varix, Cholestasis, High ... |
OMIM:619503 |
| Limb-Mammary Syndrome |
|
Cleft hard palate, Aplasia of the uterus, Bifid uvula, Cleft palate, Submucous cleft soft palate,... |
ORPHA:69085 |
| Neu-Laxova Syndrome 1 |
|
Renal agenesis, Bifid uterus, Cleft palate, Cryptorchidism |
OMIM:256520 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Abnormal circulating chemokine concentration, Increased circulating interleukin 6 concentration, ... |
ORPHA:544482 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Oligoclonal T cell expansion, Decreased lymphocyte proliferation in response to mitogen |
ORPHA:83471 |
| Roberts-Sc Phocomelia Syndrome |
|
Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Accessory spleen, Polycysti... |
OMIM:268300 |
| Williams Syndrome |
|
Hypoplasia of penis, Tracheoesophageal fistula, Nephrocalcinosis, Multiple renal cysts, Abnormal ... |
ORPHA:904 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture |
OMIM:130050 |
| Loeys-Dietz Syndrome |
|
Bifid uvula, Uterine rupture, High palate |
ORPHA:60030 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Agonadism, Hypergonadotropic hypogonadism, Aplasia/hypoplasia of the uterus, Cryptorchidism, Non-... |
ORPHA:2232 |
| Cornelia De Lange Syndrome |
|
Hypospadias, Gastroesophageal reflux, Hypoplasia of penis, Renal insufficiency, Vesicoureteral re... |
ORPHA:199 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Gastroesophageal reflux, Accessory spleen, Aplasia of the uterus, Precocious puberty... |
OMIM:194190 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Increased circulating antibody level |
OMIM:181000 |
| Vascular Ehlers-Danlos Syndrome |
|
Gastrointestinal infarctions, High, narrow palate, Hypospadias, Uterine rupture, Abnormal intesti... |
ORPHA:286 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
ORPHA:572333 |
| Velocardiofacial Syndrome |
|
Impaired T cell function |
OMIM:192430 |
| Classical Ehlers-Danlos Syndrome |
|
Rectal prolapse, Gastroesophageal reflux, Cervical insufficiency, Uterine prolapse, Bladder diver... |
ORPHA:287 |
| Viss Syndrome |
|
High, narrow palate, Cleft soft palate, Gastroesophageal reflux, Chronic gastritis, High palate, ... |
OMIM:619472 |
| Pallister-Hall Syndrome |
|
Hydrometrocolpos, Hypospadias, Aplasia/Hypoplasia of the vagina, Ectopic kidney, Unilateral renal... |
ORPHA:672 |
| Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function |
OMIM:176690 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Gastroesophageal reflux, Vesicoureteral reflux, Nephrolithiasis, Precocious puberty, Uterine prol... |
ORPHA:438213 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse |
OMIM:123700 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Narrow palate, Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, High palate, S... |
OMIM:276820 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Abnormal circulating interferon-gamma concentration |
ORPHA:391487 |
| Pallister-Killian Syndrome |
|
Aplasia of the upper vagina, Anal stenosis, Hypospadias, Labial hypoplasia, Aplasia of the uterus... |
OMIM:601803 |
| Norrie Disease |
|
Uterine rupture, Cryptorchidism |
ORPHA:649 |
| Coffin-Lowry Syndrome |
|
Narrow palate, Uterine prolapse, Rectal prolapse, High palate |
OMIM:303600 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
| Aneurysm-Osteoarthritis Syndrome |
|
Abnormal bladder morphology, High palate, Uterine prolapse, Bifid uvula, Cleft palate, Left ventr... |
ORPHA:284984 |
| Loeys-Dietz Syndrome 3 |
|
High palate, Eosinophilic infiltration of the esophagus, Uterine prolapse, Bifid uvula, Cleft pal... |
OMIM:613795 |
| Digeorge Syndrome |
|
Impaired T cell function |
OMIM:188400 |
