Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Joint hyperflexibility, Hypogonadism |
ORPHA:1875 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Abnormalit... |
ORPHA:543 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Reduced serum alpha-1-antitrypsin, Hepatocellular carcinoma, Gastric varix, Splenomegaly |
OMIM:613490 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
Gonadoblastoma |
|
Ambiguous genitalia, Gonadal dysgenesis with female appearance, male, Gonadal calcification, Abno... |
ORPHA:206484 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries, Hepatocellular adenoma |
OMIM:142330 |
Hyperaldosteronism, Familial, Type I |
|
Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia, Hyperaldosteronism |
OMIM:103900 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Abnormal liver parenchyma morphology, Anem... |
ORPHA:64743 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Osteoporosis, Hemorrhagic ovarian cyst, Osteopenia |
ORPHA:397685 |
Tetragametic Chimerism |
|
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Gonad... |
ORPHA:199310 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Absence of intrinsic factor |
OMIM:243320 |
Intrinsic Factor Deficiency |
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Reduced haptoglobin level, Megaloblastic anemia, Absence of intrinsic factor, Increased RBC distr... |
OMIM:261000 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormal lymph node morphology, Nodular goiter, Colon cancer, Follicular thyroid carcinoma, Chron... |
ORPHA:319487 |
Ovarian Fibroma |
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Gonadal calcification, Abnormality of the ovary, Peritonitis, Mesenteric cyst, Ovarian fibroma |
ORPHA:314473 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... |
ORPHA:2138 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Neoplasm of the large inte... |
ORPHA:157798 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Weight loss, Multipl... |
ORPHA:2494 |
Rudiger Syndrome |
|
Ureterovesical stenosis, Flexion contracture, Bicornuate uterus, Ovarian cyst, Micropenis |
OMIM:268650 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
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Abnormal lymph node morphology, Nodular goiter, Colon cancer, Chronic noninfectious lymphadenopat... |
ORPHA:97290 |
Familial Hyperaldosteronism Type Ii |
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Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Abnormal... |
ORPHA:404 |
Polyposis of gastric fundus without polyposis coli |
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Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Lipoid Congenital Adrenal Hyperplasia |
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Adrenogenital syndrome, Congenital adrenal hyperplasia |
OMIM:201710 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
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Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
Pyloric Atresia |
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Congenital pyloric atresia |
OMIM:265950 |
Familial Hyperaldosteronism Type I |
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Hypokalemia, Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, D... |
ORPHA:403 |
Ornithine Transcarbamylase Deficiency |
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Pyloric stenosis, Hyperammonemia, Splenomegaly |
ORPHA:664 |
Chronic Intestinal Pseudoobstruction |
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Intestinal malrotation, Pyloric stenosis, Abnormal platelet morphology, Abnormal intestine morpho... |
ORPHA:2978 |
46,Xy Complete Gonadal Dysgenesis |
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Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Autoimmune Polyendocrinopathy Type 1 |
|
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... |
ORPHA:3453 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Syndromic Recessive X-Linked Ichthyosis |
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Hypogonadism, Abnormal stomach morphology, Testicular seminoma, Cryptorchidism, Acute leukemia |
ORPHA:281090 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hypokalemia, Adrenal hyperplasia, Hyperaldosteronism |
OMIM:613677 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
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Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
Ovarian Fibrothecoma |
|
Gonadal calcification, Abnormality of the ovary, Peritonitis, Abnormal endometrium morphology, Ov... |
ORPHA:314478 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, A... |
ORPHA:2795 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Diabetes mel... |
OMIM:615830 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... |
ORPHA:90791 |
Cystic Echinococcosis |
|
Peritoneal abscess, Abnormality of the pancreas, Abnormality of the testis size, Cholestatic live... |
ORPHA:400 |
Familial Hyperaldosteronism Type Iii |
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Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Abnormal... |
ORPHA:251274 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... |
ORPHA:189439 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:201910 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Weight loss, Abnormal testis... |
ORPHA:54251 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... |
OMIM:613179 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Jaundice, Decreased circulating cortisol level, Hyperkalemia, Increased circulati... |
ORPHA:90790 |
Primary Unilateral Adrenal Hyperplasia |
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Decreased circulating renin level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231580 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology, Abnormality of the liver, Jaundice, Biliary tract abnormality... |
ORPHA:234 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
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Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... |
ORPHA:189427 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:202110 |
Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Pyloric stenosis, Abno... |
ORPHA:381 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
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Congenital pyloric atresia |
OMIM:612138 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Anemia, Intussusception, Duodenal adenocarcinoma, Hypokalemia, Multiple ... |
OMIM:174900 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-s... |
ORPHA:369929 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Jaundice,... |
ORPHA:276 |
Mccune-Albright Syndrome |
|
Precocious puberty, Abnormal testis morphology, Hyperphosphaturia, Hyperplasia of the Leydig cell... |
ORPHA:562 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperplasia, Cleft palat... |
ORPHA:96181 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Cac... |
ORPHA:1876 |
Nephrotic Syndrome, Type 1 |
|
Gastroesophageal reflux, Hypothyroidism, Small for gestational age, Pyloric stenosis, Hypoprotein... |
OMIM:256300 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... |
ORPHA:263665 |
Functioning Gonadotropic Adenoma |
|
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Enlarged pol... |
ORPHA:91348 |
Satoyoshi Syndrome |
|
Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Hypoplasia of the u... |
ORPHA:3130 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
Bronchogenic Cyst |
|
Abnormal esophagus morphology, Abnormal stomach morphology, Abnormality of the peritoneum, Dysphagia |
ORPHA:2357 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Failure to thrive, Pyloric stenosis |
OMIM:179010 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... |
OMIM:201810 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, High palate, Small for gestational age, Pyloric stenosis, Bifid uvula, Maturi... |
ORPHA:96184 |
Scleroderma |
|
Hypereosinophilia, Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intes... |
ORPHA:801 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Azoospermia, Male hypogonadism, Abnormality ... |
OMIM:228300 |
Chronic Granulomatous Disease |
|
Liver abscess, Malabsorption, Pyloric stenosis, Abnormality of neutrophils, Tracheoesophageal fis... |
ORPHA:379 |
Hardikar Syndrome |
|
Cleft soft palate, Portal inflammation, Hepatosplenomegaly, Celiac disease, Hepatomegaly, Hematem... |
OMIM:301068 |
Microgastria-Limb Reduction Defect Syndrome |
|
Gastroesophageal reflux, Esophageal atresia, Perineal fistula, Anal atresia, Tracheoesophageal fi... |
ORPHA:2538 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Decreased eosinophil count,... |
ORPHA:99889 |
Systemic Sclerosis |
|
Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab... |
ORPHA:90291 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Hypoplasia of the uterus |
ORPHA:247768 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Decreased circulating cortiso... |
ORPHA:95699 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Increased mean platelet volume, Intestina... |
OMIM:300048 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia, Cryptorchidism |
ORPHA:2617 |
Fraser-Like Syndrome |
|
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger |
OMIM:229230 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... |
ORPHA:786 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the stomach, Anemia, Abnormality of the liver, Neoplasm of the gastrointestinal tract... |
ORPHA:44890 |
Tetraamelia Syndrome 1 |
|
Asplenia, Anal atresia, Cleft palate, Adrenal gland agenesis |
OMIM:273395 |
Agammaglobulinemia, X-Linked |
|
Septic arthritis, Prostatitis, Enteroviral hepatitis, Hepatocellular carcinoma, Epididymitis, Lym... |
OMIM:300755 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Pyloric stenosis, Elevated circulating creatine kinase concentration, Hepatic s... |
OMIM:613327 |
Meige Disease |
|
Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Left ventric... |
OMIM:209900 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Elevated maternal serum alpha-fetoprotein, Pancreatic calcificati... |
ORPHA:677 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Congenital pyloric atresia, Elevated maternal serum alpha-fetoprotein, Esophageal atresia |
OMIM:226730 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Cleft palate, Adrenal gland agenesis |
OMIM:611812 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Jaundice, Xerostomia, Hep... |
ORPHA:779 |
Metachromatic Leukodystrophy |
|
Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology, Neoplasm of the gallb... |
ORPHA:512 |
Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Nephrolithiasis, Cervicitis |
ORPHA:722 |
Cushing Disease |
|
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Increased circulating... |
ORPHA:96253 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
Congenital Tracheal Stenosis |
|
Morphological abnormality of the gastrointestinal tract, Abnormal stomach morphology, Anal atresi... |
ORPHA:141127 |
Hydrolethalus Syndrome 1 |
|
Cleft palate, Adrenal gland dysgenesis, Accessory spleen |
OMIM:236680 |
Esophageal Atresia |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... |
ORPHA:1199 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Gonadoblastoma, ... |
ORPHA:99413 |
Turner Syndrome |
|
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Gonadoblastoma, ... |
ORPHA:881 |
Mosaic Monosomy X |
|
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Gonadoblastoma, ... |
ORPHA:99228 |
Monosomy X |
|
High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Gonadoblastoma, ... |
ORPHA:99226 |
Doors Syndrome |
|
Gastroesophageal reflux, High palate, Narrow palate, Adrenal hyperplasia, Thrombocytosis, Congeni... |
ORPHA:79500 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Hyperuricemia, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia o... |
ORPHA:93111 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Congenital pyloric atresia, Elevated circulating creatine kinase concentration |
ORPHA:158684 |
Viss Syndrome |
|
Hypereosinophilia, Gastroesophageal reflux, Hypothyroidism, High palate, Cleft soft palate, Bifid... |
OMIM:619472 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
Williams Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Abnormal circulating lipid concentra... |
ORPHA:904 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Autosomal Recessive Spastic Paraplegia Type 62 |
|
Knee flexion contracture |
ORPHA:401785 |
Spastic Paraplegia 62, Autosomal Recessive |
|
|
OMIM:615681 |