Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Gastroschisis |
|
Intestinal atresia |
ORPHA:2368 |
Leiomyoma Of Vulva And Esophagus |
|
Clitoral hypertrophy, Esophageal obstruction |
OMIM:150700 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration, Ileitis |
OMIM:618287 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Esophageal atresia, Cryptorchidism, Ventral shortening of foreskin, Cleft palate, ... |
ORPHA:95706 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Hypospadias, Tracheoesophageal fistula |
ORPHA:1923 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Rhombencephalosynapsis |
|
Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Abnormality of the uterus, ... |
ORPHA:59315 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia |
OMIM:615272 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Esophageal atresia, Cryptorchidism, Tracheoesophageal fistula |
ORPHA:77298 |
Coffin-Siris Syndrome 11 |
|
Esophageal atresia, High palate, Bifid uvula, Cleft soft palate |
OMIM:618779 |
Cocaine Embryofetopathy |
|
Intestinal atresia |
ORPHA:1911 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Bilateral cryptorchidism, Esophageal atresia, Coronal hypospadias, Tracheoesophageal fistula |
OMIM:619859 |
Fanconi Anemia, Complementation Group B |
|
Hypergonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal fistula, Hypogonadism, Micr... |
OMIM:300514 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate |
OMIM:614526 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Esophageal atresia, Cryptorchidism, Tracheoesophageal fistula, Cleft palate |
ORPHA:3157 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
Feingold Syndrome 2 |
|
Intestinal atresia |
OMIM:614326 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia |
OMIM:619227 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Tracheoesophageal fistula, Anal atresia |
OMIM:314390 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Feingold Syndrome |
|
Esophageal atresia, Duodenal atresia |
ORPHA:1305 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... |
ORPHA:2538 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Vaginal neoplasm, Esophageal neoplasm, Uterine leiomyoma, Uterine leiomyosarcoma |
ORPHA:523 |
Vacterl With Hydrocephalus |
|
Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Abnormal fallopian tube morphology... |
ORPHA:3412 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix |
OMIM:617068 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
Apert Syndrome |
|
Esophageal atresia, Cleft palate, Narrow palate, Ovarian neoplasm, Ectopic anus, Bifid uvula |
ORPHA:87 |
Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Aplasia of the uterus, Micropenis, A... |
OMIM:614083 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Esophageal atresia, Cleft palate |
OMIM:610536 |
Cartilage-Hair Hypoplasia |
|
Esophageal atresia, Anal stenosis, Aganglionic megacolon, Malabsorption |
OMIM:250250 |
Anorectal Anomalies |
|
Rectovaginal fistula, Anal atresia |
OMIM:107100 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia |
ORPHA:391641 |
Apert Syndrome |
|
Pyloric stenosis, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Ectopic anus, ... |
OMIM:101200 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology |
ORPHA:3411 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation |
ORPHA:1201 |
Fryns Syndrome |
|
Bifid scrotum, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Esophageal atresia, Cr... |
OMIM:229850 |
Trisomy 18 |
|
Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Abnormal morphology of female in... |
ORPHA:3380 |
Feingold Syndrome Type 2 |
|
Jejunal atresia |
ORPHA:391646 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi... |
OMIM:601346 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Feingold Syndrome 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... |
OMIM:164280 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Intestinal atresia |
ORPHA:3405 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal ... |
OMIM:236700 |
Fanconi Anemia, Complementation Group D2 |
|
Hypergonadotropic hypogonadism, Esophageal atresia, Cryptorchidism, Tracheoesophageal fistula, Mi... |
OMIM:227646 |
Microphthalmia, Syndromic 3 |
|
Hypogonadotropic hypogonadism, Hypospadias, Esophageal atresia, Cryptorchidism, Micropenis |
OMIM:206900 |
Van Esch-O'Driscoll Syndrome |
|
Esophageal atresia, Tracheoesophageal fistula, Bifid uvula, Hypogonadotropic hypogonadism |
OMIM:301030 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Prune Belly Syndrome |
|
Intestinal malrotation, Cryptorchidism, Urogenital sinus anomaly, Abnormality of the uterus, Volv... |
ORPHA:2970 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, Cleft palate,... |
OMIM:265380 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, High, narrow palate, Esophageal atresia, Pyloric stenosis, Micropenis,... |
ORPHA:96149 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Maternal Phenylketonuria |
|
Esophageal atresia, High palate |
ORPHA:2209 |
Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Intestinal atresia |
ORPHA:93941 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Duplication Of Urethra |
|
Bifid scrotum, Clitoral hypertrophy, Hypospadias, Septate vagina, Rectourethral fistula, Epispadi... |
ORPHA:237 |
Colonic Atresia |
|
Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Congenital Tracheomalacia |
|
Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula |
ORPHA:95430 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Cryptorchidism, Uterus didelphys... |
ORPHA:93271 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Retinitis Pigmentosa 89 |
|
Esophageal varix |
OMIM:618955 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Vaginal neoplasm, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus m... |
ORPHA:1018 |
Cholesteryl Ester Storage Disease |
|
Esophageal varix |
ORPHA:75234 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula |
ORPHA:3016 |
Currarino Syndrome |
|
Anal stenosis, Septate vagina, Perianal abscess, Gastrointestinal obstruction, Bicornuate uterus,... |
OMIM:176450 |
Gabriele-De Vries Syndrome |
|
Cryptorchidism, Esophageal atresia, High palate, Oral-pharyngeal dysphagia |
ORPHA:506358 |
Charge Syndrome |
|
Anal stenosis, Hypogonadotropic hypogonadism, External genital hypoplasia, Esophageal atresia, Cr... |
OMIM:214800 |
Bardet-Biedl Syndrome 6 |
|
Vaginal atresia, Hypospadias, External genital hypoplasia |
OMIM:605231 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Cleft palate, Uro... |
ORPHA:2473 |
Vater/Vacterl Association |
|
Esophageal atresia, Hypospadias, Tracheoesophageal fistula, Anal atresia |
OMIM:192350 |
Camptobrachydactyly |
|
Septate vagina |
OMIM:114150 |
Denys-Drash Syndrome |
|
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... |
OMIM:194080 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
Camptobrachydactyly |
|
Septate vagina |
ORPHA:1319 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Abnormal esophagus morphology, Dysphagia |
OMIM:226600 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Cryptorchidism, Microphallus, Anal atresia, Intestinal atresia |
ORPHA:94065 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Esophageal stenosis, Oral leukoplakia |
OMIM:616553 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix |
OMIM:617341 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... |
OMIM:615710 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Hydrometrocolpos, Vaginal atresia |
OMIM:615989 |
Portal Hypertension, Noncirrhotic, 2 |
|
Esophageal varix, Hepatocellular carcinoma |
OMIM:619463 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Gastrointes... |
ORPHA:131 |
Wolman Disease |
|
Esophageal varix, Steatorrhea |
ORPHA:75233 |
Plummer-Vinson Syndrome |
|
Glossitis, Tongue atrophy, Esophageal web, Dysphagia |
ORPHA:54028 |
Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis, Vaginal atresia |
OMIM:248450 |
Bronchogenic Cyst |
|
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Netherton Syndrome |
|
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia |
OMIM:256500 |
Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... |
ORPHA:3097 |
Adams-Oliver Syndrome 6 |
|
Esophageal varix |
OMIM:616589 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina |
OMIM:146255 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Esophageal stricture, Dysphagia |
OMIM:616029 |
Duodenal Atresia |
|
Duodenal atresia |
ORPHA:1203 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Vaginal stricture, Esophageal stricture, Gastrointestinal inflammation |
ORPHA:79409 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Anal atresia, Clitora... |
OMIM:300707 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia, Bifid uvula |
OMIM:616258 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Uterus didelphys, Cleft palate, Aplasia of the uterus, Vaginal atresia |
ORPHA:2237 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Esophageal diverticulum, Hamartoma of tongue, Septate vagina, Uterus didelphys, Cleft palate, Mic... |
OMIM:617925 |
Noonan Syndrome 7 |
|
Impaired oropharyngeal swallow response, Abnormal esophagus morphology, Dysphagia |
OMIM:613706 |
Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia |
OMIM:191830 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, High palate, Abnormality of the uterus, Protein-losing enteropathy, Abnormal fall... |
ORPHA:1655 |
Glycogen Storage Disease Iv |
|
Esophageal varix |
OMIM:232500 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvula, Intestinal at... |
OMIM:619708 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ... |
OMIM:119500 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Esophageal stricture, Gastroesophageal reflux, Dysphagia, Anky... |
ORPHA:89842 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Aplasia of the vagina, Anal atresia, Absent external genitalia |
OMIM:271520 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis |
OMIM:140000 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma |
ORPHA:64743 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Duodenal atresia |
OMIM:619608 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Ileal atresia |
OMIM:615351 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Duodenal atresia |
ORPHA:3004 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Vaginal atresia, Anal atresia |
ORPHA:3301 |
Aspergillosis |
|
Abnormal esophagus morphology |
ORPHA:1163 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Ovotestis, Cleft palate, Anteriorly placed anus, Hypoplasia of... |
OMIM:309801 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture |
ORPHA:158673 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atresia, Rectal abscess, Intesti... |
ORPHA:436252 |
Mirage Syndrome |
|
Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal stricture, Gastroesophage... |
OMIM:617053 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Esophageal varix |
OMIM:614576 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Aganglionic megacolon, Intestinal malrotation, Septate vagina, Hypo... |
OMIM:270400 |
Cirrhosis, Familial |
|
Esophageal varix |
OMIM:215600 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Aganglionic megacolon, High, narrow palate, High palate, Hypogonadism,... |
OMIM:209900 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Phimosis, Dysphagia, Oral leukoplakia |
OMIM:173650 |
Meacham Syndrome |
|
Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina |
OMIM:608978 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Esophageal varix |
ORPHA:367 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Esophageal varix |
OMIM:619662 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hypoplastic labia majora, Vaginal atresia, Fused labia minora |
OMIM:207410 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
Adams-Oliver Syndrome 5 |
|
Esophageal varix |
OMIM:616028 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology |
ORPHA:252164 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Abnormal testis morphology, Malabsorption, Anorectal anomaly, Tracheoesophag... |
ORPHA:1775 |
Coach Syndrome 1 |
|
Esophageal varix |
OMIM:216360 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Absent external genitalia, Cleft palate, Vaginal atresia, Anal ... |
OMIM:273395 |
Cholesteryl Ester Storage Disease |
|
Esophageal varix, Steatorrhea |
OMIM:278000 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Esophageal varix, Hepatocellular adenoma, Polycystic ovaries |
ORPHA:264580 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Jejunal atresia, Hypospadias, Ileal atresia, Cryptorchidism, Uterus didelphys, Gona... |
OMIM:618820 |
Fraser Syndrome |
|
Anal stenosis, Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Abnormal vagina m... |
ORPHA:2052 |
Immunodeficiency 12 |
|
Esophageal stricture |
OMIM:615468 |
Mednik Syndrome |
|
Volvulus, Jejunal atresia, Microcolon |
OMIM:609313 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Esophageal varix |
ORPHA:974 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, High palate, Aplasia of the uterus, Unicornu... |
OMIM:614527 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Achalasia, Esophageal stenosis, Dysphagia |
OMIM:615510 |
Chronic Graft Versus Host Disease |
|
Phimosis, Esophageal stricture, Xerostomia, Abnormal esophagus morphology, Gastroesophageal reflu... |
ORPHA:99921 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Hypogonadotropic hypogonadism, Cryptorchidism, Xerostomia... |
OMIM:604292 |
Holoprosencephaly |
|
Hypoplasia of penis, Cryptorchidism, Intestinal atresia, Gastroesophageal reflux, Median cleft li... |
ORPHA:2162 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Hypogonadotropic hypogonadism, Cryptorchidism, Xerostomia, Transverse va... |
OMIM:129900 |
Pallister-Hall Syndrome |
|
Decreased testicular size, Small scrotum, Hypospadias, Precocious puberty, Cryptorchidism, Hydrom... |
ORPHA:672 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hydrometrocolpos, Vaginal atresia, Aplasia of the epiglottis |
OMIM:617088 |
Degcags Syndrome |
|
Jejunal atresia, Hypospadias, Oral-pharyngeal dysphagia, Protruding tongue, Pyloric stenosis, Hia... |
OMIM:619488 |
Ulnar-Mammary Syndrome |
|
Anal stenosis, Small scrotum, Pyloric stenosis, Bicornuate uterus, Shawl scrotum, Micropenis, Imp... |
OMIM:181450 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Esophageal varix |
OMIM:263200 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Esophageal stricture, Oral leukoplakia |
OMIM:224230 |
Chand Syndrome |
|
Bifid tongue, Imperforate hymen, Cleft palate |
ORPHA:1401 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Cleft palate, Duodenal atresia |
OMIM:243605 |
Fraser Syndrome 1 |
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Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Cleft palate, Bicornuate uterus... |
OMIM:219000 |
Hypoglossia-Hypodactyly Syndrome |
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Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Anal atresia |
ORPHA:989 |
Johanson-Blizzard Syndrome |
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Colonic diverticula, Clitoral hypertrophy, Hypospadias, Septate vagina, Malabsorption, Urethrovag... |
OMIM:243800 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
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Esophageal stricture, Oral leukoplakia |
OMIM:613989 |
Hereditary Hemorrhagic Telangiectasia |
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Intestinal polyposis, Esophageal varix, Gastrointestinal hemorrhage |
ORPHA:774 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Kindler Epidermolysis Bullosa |
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Phimosis, Esophageal stricture, Inflammation of the large intestine, Colitis, Esophagitis, Dyspha... |
ORPHA:2908 |
Immunodeficiency 23 |
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Esophageal stricture, High palate |
OMIM:615816 |
Classic Homocystinuria |
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Gastrointestinal hemorrhage, Esophageal varix, High palate |
ORPHA:394 |
Caroli Disease |
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Cholangiocarcinoma, Esophageal varix |
ORPHA:53035 |
Waardenburg Syndrome, Type 1 |
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Aplasia of the vagina |
OMIM:193500 |
Microphthalmia, Syndromic 2 |
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Hypospadias, Septate vagina, Cryptorchidism, Submucous cleft hard palate, Bifid uvula |
OMIM:300166 |
Zttk Syndrome |
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Submucous cleft hard palate, High palate, Bifid uvula, Intestinal atresia |
OMIM:617140 |
Caroli Syndrome |
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Melena, Cholangiocarcinoma, Esophageal varix, Hematemesis |
ORPHA:480520 |
Trichorhinophalangeal Syndrome, Type Ii |
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Bilateral cryptorchidism, Chronic gastritis, Gastroesophageal reflux, Hydrometrocolpos |
OMIM:150230 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Small scrotum, Intestinal malrotation, Esophageal varix, Gastroesophageal reflux, High palate |
OMIM:613658 |
Progeroid Short Stature With Pigmented Nevi |
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Esophageal ulceration, Chordee, Hypospadias |
OMIM:176690 |
Wilson Disease |
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Esophageal varix, Dysphagia, Hepatocellular carcinoma |
OMIM:277900 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Esophageal varix |
ORPHA:309854 |
Hardikar Syndrome |
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Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Esophageal varix, Bilater... |
OMIM:301068 |
Mowat-Wilson Syndrome |
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Bifid scrotum, Aganglionic megacolon, Hypospadias, Septate vagina, Cleft hard palate, Pyloric ste... |
ORPHA:2152 |
Senior-Boichis Syndrome |
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Esophageal varix |
ORPHA:84081 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bifid scrotum, Aganglionic megacolon, Hypospadias, Septate vagina, Cleft hard palate, Pyloric ste... |
ORPHA:261537 |
Stevens-Johnson Syndrome |
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Gastrointestinal hemorrhage, Esophageal stricture, Dysphagia |
ORPHA:36426 |
Autosomal Recessive Polycystic Kidney Disease |
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Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Protein-losing enteropathy, He... |
ORPHA:731 |
Lysosomal Acid Lipase Deficiency |
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Esophageal varix, Steatorrhea |
ORPHA:275761 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bifid scrotum, Aganglionic megacolon, Hypospadias, Septate vagina, Cleft hard palate, Pyloric ste... |
ORPHA:261552 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Hypospadias, Cryptorchidism, Hydrocele testis, Chordee, High palate, Dysphagia, Hematocolpos, Imp... |
OMIM:619522 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Microcolon, Ileal atresia |
OMIM:619351 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Esophageal varix |
OMIM:615688 |
Arima Syndrome |
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Esophageal varix |
OMIM:243910 |
Dyskeratosis Congenita, X-Linked |
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Decreased testicular size, Hypospadias, Phimosis, Cryptorchidism, Esophageal stricture, Oral leuk... |
OMIM:305000 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Azoospermia, Gastric ulcer, Esophageal varix |
ORPHA:2072 |
Adams-Oliver Syndrome 1 |
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Imperforate hymen, Cleft palate |
OMIM:100300 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Cleft soft palate, Cryptorchidism, Esophageal varix, High palate, Dysphagia, Unicornuate uterus, ... |
OMIM:619503 |
Peters-Plus Syndrome |
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Hypoplasia of the vagina, Hypospadias, Cryptorchidism, Cleft palate, Anteriorly placed anus, Hypo... |
OMIM:261540 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Anal fissure, Gastrointestinal inflammation, Gastroesophageal reflux, Dysphagia, Esophageal ulcer... |
ORPHA:79408 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Esophageal stricture, Gastrointestinal inflammation |
ORPHA:79404 |
Pallister-Killian Syndrome |
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Anal stenosis, Small scrotum, Hypospadias, Intestinal malrotation, Cryptorchidism, Cleft palate, ... |
OMIM:601803 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Gastroesophageal reflux, Esophageal varix |
OMIM:619534 |
Alström Syndrome |
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Precocious puberty in females, Hypergonadotropic hypogonadism, Testicular fibrosis, Esophageal va... |
ORPHA:64 |