Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Failure to thrive, Increased... |
OMIM:610600 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Premature ovarian insufficiency |
ORPHA:75325 |
Carcinoma Of Esophagus |
|
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Lymphadenopathy, Weight loss, Barr... |
ORPHA:70482 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Failur... |
OMIM:177735 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Failure to thrive, Increased... |
OMIM:203400 |
Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated serum 11-deoxycorti... |
ORPHA:556037 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronism, Decreased circulating renin level |
OMIM:103900 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Congenital hypothyroidism, Failure to thrive, Cryptorchidism, Precoci... |
OMIM:614736 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size, Joint hyperflexibility |
ORPHA:1875 |
Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Elevated serum 11-deoxycorti... |
ORPHA:556030 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Hyponatremia, Failure to thrive in infancy, Weight loss, Abnormal circulating aldos... |
ORPHA:171876 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Adrenal hypoplasia |
OMIM:240200 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... |
ORPHA:543 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia, Failure to thrive |
OMIM:143860 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Failur... |
OMIM:264350 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia, Pseudohypoaldosteronism |
OMIM:145260 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Lymphadenopathy, Anemia, Malabsorption, Splenom... |
ORPHA:100025 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Premature Ovarian Failure 2B |
|
Osteoporosis, Premature ovarian insufficiency |
OMIM:300604 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Hepatoportal Sclerosis |
|
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Anemia, Hyperbilirubinemia, Gastric varix... |
ORPHA:64743 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Glucocortocoid-insensitive primary ... |
ORPHA:404 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... |
ORPHA:206484 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries, Hepatocellular adenoma |
OMIM:142330 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice |
OMIM:608885 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614495 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Secretory adrenocortical adenoma, D... |
ORPHA:403 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Osteopenia |
ORPHA:397685 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypokalemia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Addison Disease |
|
Androgen insufficiency, Adrenal hypoplasia, Type I diabetes mellitus, Premature ovarian insuffici... |
ORPHA:85138 |
Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Leukopenia, Anemia, Achalasia, Esophageal stri... |
OMIM:617053 |
Senior-Loken Syndrome |
|
Abnormality of bone mineral density, Nephronophthisis, Congenital hepatic fibrosis, Stage 5 chron... |
ORPHA:3156 |
Juvenile Polyposis Syndrome |
|
Rectal prolapse, Neoplasm of the stomach, Hypokalemia, Failure to thrive, Multiple gastric polyps... |
OMIM:174900 |
Ménétrier Disease |
|
Hypoproteinemia, Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morpholog... |
ORPHA:2494 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia |
OMIM:614496 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Increased serum testosterone level, Increa... |
ORPHA:90791 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Hyperammonemia, Splenomegaly |
ORPHA:664 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Familial Hypoaldosteronism |
|
Hyperkalemia, Decreased circulating aldosterone level, Adrenal insufficiency, Hyponatremia, Failu... |
ORPHA:427 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... |
ORPHA:199310 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor, Megaloblastic anemia |
OMIM:243320 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Osteosclerosis of the base of the skull, Hypoplasia of the ovary, Premature ovarian insufficiency... |
OMIM:609993 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Small for gestational age, Hypokalemia, Failure to thriv... |
OMIM:218030 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise |
ORPHA:57 |
Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Adrenal insufficiency, Testicular adrenal ... |
ORPHA:361 |
Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency |
OMIM:300511 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive p... |
ORPHA:231580 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... |
ORPHA:90793 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Follicular t... |
ORPHA:319487 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Macroorchidism, Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin sy... |
ORPHA:90790 |
Serrated Polyposis Syndrome |
|
Colorectal polyposis, Ovarian neoplasm, Adenomatous colonic polyposis, Biliary tract neoplasm, Pa... |
ORPHA:157798 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Ovarian Fibroma |
|
Abnormality of the ovary, Peritonitis, Ovarian fibroma, Gonadal calcification, Mesenteric cyst |
ORPHA:314473 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Hyponatremia, Androgen insufficiency, Hype... |
ORPHA:95409 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Glucocortocoid-insensitive primary ... |
ORPHA:251274 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Microvesicular hepatic steatosis, Cachexia, Esophageal varix, Hepatic... |
ORPHA:275761 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Chronic noni... |
ORPHA:97290 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... |
OMIM:261000 |
Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... |
ORPHA:90044 |
Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hyponatremia, Hyperkalemia, Hypokalemia |
ORPHA:682 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypokalemia, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Hypomagnese... |
OMIM:175500 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Weight loss, Anemia, Abnormality of the lymph nodes, Abnorma... |
ORPHA:54251 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Abnormality of the Leydig cells, Hyponatre... |
ORPHA:289548 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Conjugated hyperbilir... |
ORPHA:234 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnesium concentra... |
OMIM:241150 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Absent tonsils, Aplasia of the thymus, Failure to thrive, Lymph node hypoplasia |
OMIM:602450 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... |
ORPHA:2978 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyperkalemia, Decreased circulating aldosterone level, Abnormality of the Leydig cells, Hyponatre... |
ORPHA:168558 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypocalcemia, Incre... |
OMIM:601198 |
Ovarian Dysgenesis 2 |
|
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... |
OMIM:300510 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... |
ORPHA:1916 |
Vipoma |
|
Increased circulating cortisol level, Normochromic anemia, Primary hyperparathyroidism, Diabetes ... |
ORPHA:97282 |
Hypokalemic Periodic Paralysis |
|
Adrenocortical adenoma, Mildly elevated creatine kinase, Episodic hypokalemia |
ORPHA:681 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Hyperthyroidism, Weight loss, Goiter |
OMIM:613239 |
Autoimmune Polyendocrinopathy Type 1 |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... |
ORPHA:3453 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... |
OMIM:202010 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Hyperthyroidism, Weight loss, Goiter |
OMIM:188580 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... |
OMIM:618723 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular v... |
OMIM:611590 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia |
ORPHA:99845 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... |
OMIM:219080 |
Premature Ovarian Failure 5 |
|
Reduced antral follicle count, Hypoplasia of the ovary, Streak ovary, Premature ovarian insuffici... |
OMIM:611548 |
Syndromic Recessive X-Linked Ichthyosis |
|
Testicular seminoma, Acute leukemia, Abnormal stomach morphology, Hypogonadism, Cryptorchidism |
ORPHA:281090 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Hyperlipidemia,... |
ORPHA:189439 |
Liddle Syndrome 1 |
|
Decreased circulating aldosterone level, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Episodic hypokalemia, Weight loss,... |
ORPHA:79102 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Lymph node hypoplasia, Increased circulating inosine concentration, Neutropenia in ... |
OMIM:613179 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Hyperaldosteronism |
ORPHA:369929 |
Premature Ovarian Failure 1 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypothyroidism, Hyp... |
OMIM:256300 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Urinary retention, Polycystic ovaries, Dysuria, Abnormality of the uret... |
ORPHA:2795 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Diabetes mel... |
OMIM:615830 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Cystinosis |
|
Hypokalemia, Failure to thrive, Hypophosphatemia, Malabsorption, Nephrogenic diabetes insipidus, ... |
ORPHA:213 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Peritonitis, Ovarian fibroma, Gonadal c... |
ORPHA:314478 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615724 |
Griscelli Syndrome |
|
Pyloric stenosis, Hepatomegaly, Leukopenia, Abnormal circulating lipid concentration, Lymphadenop... |
ORPHA:381 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Dysphagia, Leukocytosis, Thrombocytosis, Hypernatremia, Elevated circ... |
ORPHA:94093 |
Birk-Landau-Perez Syndrome |
|
Hyperkalemia |
OMIM:617595 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615723 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Liddle Syndrome 3 |
|
Hypokalemia |
OMIM:618126 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Increased circulating cortiso... |
OMIM:615954 |
Cystic Echinococcosis |
|
Hepatomegaly, Bone cyst, Splenic cyst, Peritoneal abscess, Membranous nephropathy, Biliary tract ... |
ORPHA:400 |
Nephronophthisis 2 |
|
Hyperkalemia, Elevated circulating creatinine concentration |
OMIM:602088 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Increased urinary cortisol level, Increased circulating androstenedione... |
ORPHA:1501 |
Premature Ovarian Failure 7 |
|
Elevated circulating follicle stimulating hormone level, Clitoral hypertrophy, Premature ovarian ... |
OMIM:612964 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Villous atrophy, Ileoileal intussusception, Hypokalemia, Portal... |
OMIM:619377 |
46,Xx Gonadal Dysgenesis |
|
Aplasia/hypoplasia of the uterus, Streak ovary, Osteopenia, Reduced bone mineral density, Increas... |
ORPHA:243 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, H... |
ORPHA:786 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hypochloremia, Hyponatremia, Hypokalemia |
OMIM:300971 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Failure to thrive, Hypochloremia... |
OMIM:214700 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Central diabetes insipidus, Hypokalemia |
OMIM:304900 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Failu... |
ORPHA:276 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Hypokalemia, Decreased circulating renin level, Failure ... |
ORPHA:320 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Pyloric stenosis, High palate, Cleft palate, Small for gestational age, Maturity-onset diabetes o... |
ORPHA:96184 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating progesterone, Increased serum testosterone level, Hyperactive renin-angiote... |
ORPHA:90794 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Leukocytosis, Rectal prolapse, Unconjugated hyperbilirubinemia, Schistocytosis, Hyp... |
ORPHA:90038 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Neoplasm of the adrenal gland, Hypokalemia, Decreased circulating renin level, Increased circulat... |
ORPHA:231625 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Lymph node hypoplasia, Epididymitis, Septic arthritis |
OMIM:300755 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophage... |
ORPHA:1876 |
Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... |
ORPHA:263665 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Elevated circulating crea... |
ORPHA:85450 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hyponatremia, Leukocytosis, Gastrointestinal infarctions, Acute colitis, Intestinal... |
ORPHA:544482 |
Mccune-Albright Syndrome |
|
Renal tubular dysfunction, Goiter, Fibrous dysplasia of the bones, Hepatitis, Monostotic fibrous ... |
ORPHA:562 |
Scleroderma |
|
Abnormal large intestine morphology, Abnormality of the small intestine, Elevated circulating cre... |
ORPHA:801 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypokalemia, Failure to thrive, Hypophosphatemia, Malabsorption |
OMIM:227810 |
Ectopic Aldosterone-Producing Tumor |
|
Ovarian neoplasm, Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive prim... |
ORPHA:231632 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Pyloric stenosis, Elevated circulating creatine kinase concentration |
OMIM:616924 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Cleft palate, Congenital adrenal hyperplasia, Thrombocytopeni... |
ORPHA:96181 |
Hepatocellular Carcinoma |
|
Esophageal varix, Hemobilia, Abnormality of the hepatic vasculature, Portal hypertension, Liver a... |
ORPHA:88673 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Hypokalemia |
OMIM:602722 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Failure to thrive |
OMIM:179010 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Macroorchidism, postpubertal, Adrenocorticotropic hormone... |
ORPHA:91348 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Pyloric stenosis, Hepatomegaly, Dysphagia, Elevated circulating creatine kinase concentration, Fa... |
OMIM:613327 |
Pancreatoblastoma |
|
Weight loss, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormality of ... |
ORPHA:677 |
Microgastria-Limb Reduction Defects Association |
|
Microgastria, Aganglionic megacolon, Asplenia, Failure to thrive, Splenogonadal fusion, Intestina... |
OMIM:156810 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Increased circulating androstenedione concentration, Testicul... |
ORPHA:90795 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:617565 |
Systemic Sclerosis |
|
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Elevated circ... |
ORPHA:90291 |
Pearson Syndrome |
|
Adrenal insufficiency, Neutropenia, Hypophosphatemia, Splenomegaly, Steatorrhea, Diabetes mellitu... |
ORPHA:699 |
Bronchogenic Cyst |
|
Dysphagia, Abnormality of the peritoneum, Abnormal stomach morphology, Abnormal esophagus morphology |
ORPHA:2357 |
Premature Ovarian Failure 6 |
|
Streak ovary, Elevated circulating follicle stimulating hormone level, Premature ovarian insuffic... |
OMIM:612310 |
Premature Ovarian Failure 18 |
|
Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Premature ovari... |
OMIM:619203 |
Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the u... |
ORPHA:3130 |
Perrault Syndrome 4 |
|
Osteoporosis, Hypoplasia of the ovary, Increased circulating gonadotropin level, Bicornuate uteru... |
OMIM:615300 |
Chronic Granulomatous Disease |
|
Pyloric stenosis, Hepatomegaly, Mediastinal lymphadenopathy, Malabsorption, Splenomegaly, Tracheo... |
ORPHA:379 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Testicular microlithiasis, Abnormality of the Leydig cells, Hypogonadotropic hypogonadism, Microp... |
OMIM:228300 |
Ovarian Dysgenesis 9 |
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Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Premature ovari... |
OMIM:619665 |
Epidermolysis Bullosa Junctionalis With Pyloric Atresia |
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Congenital pyloric atresia, Esophageal atresia, Elevated maternal serum alpha-fetoprotein |
OMIM:226730 |
East Syndrome |
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Hypomagnesemia, Increased circulating renin level, Hypokalemia, Hyperaldosteronism |
ORPHA:199343 |
Hardikar Syndrome |
|
Cholangitis, Esophageal varix, Decreased serum insulin-like growth factor 1, Intrahepatic bile du... |
OMIM:301068 |
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability |
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Hypomagnesemia, Episodic hypokalemia |
ORPHA:564178 |
Ethylene Glycol Poisoning |
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Gastritis, Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
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Hypomagnesemia, Hypokalemia |
OMIM:618314 |
Microgastria-Limb Reduction Defect Syndrome |
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Microgastria, Perineal fistula, Abnormality of the spleen, Hepatomegaly, Rectovaginal fistula, Fa... |
ORPHA:2538 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Pyloric stenosis, Increased mean platelet volume, Intestinal pseudo-obstruction, Congenital short... |
OMIM:300048 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Adrenal hyperplasia, Atypical pulmonary carcinoid tumor, Neoplasm of the thymus, Small intestine ... |
ORPHA:99889 |
Microcephalic Primordial Dwarfism, Montreal Type |
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Cryptorchidism, Congenital pyloric atresia |
ORPHA:2617 |
Immunodeficiency 87 And Autoimmunity |
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Hemolytic anemia, Hepatomegaly, Cleft palate, Villous atrophy, Elevated circulating C-reactive pr... |
OMIM:619573 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Increased circulating progesterone, Adrenal hyperplasia, Elevated circulating follicle stimulatin... |
ORPHA:95699 |
Müllerian Aplasia And Hyperandrogenism |
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Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus |
ORPHA:247768 |
Autosomal Dominant Centronuclear Myopathy |
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Pyloric stenosis, Cryptorchidism, Mildly elevated creatine kinase, Large for gestational age |
ORPHA:169189 |
Gastrointestinal Stromal Tumor |
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Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neopla... |
ORPHA:44890 |
Hemorrhagic Fever-Renal Syndrome |
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Hyperkalemia, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Melena, Thromb... |
ORPHA:340 |
Bardet-Biedl Syndrome 1 |
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Abnormality of the ovary, Hepatic fibrosis, Hypogonadism, Vaginal atresia, Micropenis, Left ventr... |
OMIM:209900 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
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Hyponatremia, Hypokalemia, Failure to thrive, Hypochloremia, Hyperaldosteronism, Hyperchloriduria |
OMIM:613090 |
Hypomagnesemia 2, Renal |
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Hypomagnesemia, Hypokalemia |
OMIM:154020 |
Fraser-Like Syndrome |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Ovarian cyst |
OMIM:229230 |
Thrombocytopenia, Paris-Trousseau Type |
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Pyloric stenosis, Thrombocytopenia |
OMIM:188025 |
Epidermolysis Bullosa, Junctional, Herlitz Type |
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Pyloric stenosis, Failure to thrive |
OMIM:226700 |
Colchicine Poisoning |
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Hyponatremia, Leukocytosis, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... |
ORPHA:31824 |
Bartter Syndrome, Type 3 |
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Hyperactive renin-angiotensin system, Hypokalemia, Hyperaldosteronism, Hyperchloriduria, Increase... |
OMIM:607364 |
Tetraamelia Syndrome 1 |
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Adrenal gland agenesis, Cleft palate, Asplenia, Anal atresia |
OMIM:273395 |
Fanconi Renotubular Syndrome 1 |
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Hypophosphatemia, Hypokalemia |
OMIM:134600 |
Nelson Syndrome |
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Increased urinary cortisol level, Increased circulating prolactin concentration, Type II diabetes... |
ORPHA:199244 |
Exercise-Induced Malignant Hyperthermia |
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Hyperkalemia, Elevated circulating creatine kinase concentration, Hypocalcemia, Thrombocytopenia,... |
ORPHA:466650 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
Meige Disease |
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Absence of lymph node germinal center, Lymph node hypoplasia |
ORPHA:90186 |
Renal Tubular Acidosis Iii |
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Hypokalemia |
OMIM:267200 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
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Hypomagnesemia, Increased circulating renin level, Hypokalemia, Hyperaldosteronism |
OMIM:612780 |
Tsh-Secreting Pituitary Adenoma |
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Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-stimulating hormone conc... |
ORPHA:91347 |
Reynolds Syndrome |
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Hepatomegaly, Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Cirrhosis, Gastroesophag... |
ORPHA:779 |
Helix Syndrome |
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Xerostomia, Hypermagnesemia, Hyperparathyroidism, Hypokalemia |
OMIM:617671 |
Rabson-Mendenhall Syndrome |
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Increased serum testosterone level, High palate, Hypokalemia, Macroglossia, Insulin-resistant dia... |
ORPHA:769 |
Bartter Syndrome, Type 1, Antenatal |
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Hypercalcemia, Hyperactive renin-angiotensin system, Hypokalemia, Small for gestational age, Incr... |
OMIM:601678 |
Metachromatic Leukodystrophy |
|
Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology, Abnormal stomach morphol... |
ORPHA:512 |
Harrod Syndrome |
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Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Failure to thrive, Mal... |
OMIM:601095 |
Aromatase Deficiency |
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Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Hyponatremia, Hypokalemia, Failure to thrive, Hypochloremia, Hyperaldosteronism, Hyperchloriduria |
OMIM:602522 |
Immunodeficiency, Common Variable, 10 |
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Pyloric stenosis, Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decr... |
OMIM:615577 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Adrenal gland agenesis, Cleft palate |
OMIM:611812 |
Pituitary Adenoma 4, Acth-Secreting |
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Hypokalemia, Pituitary adenoma, Abdominal obesity, Obesity, Increased circulating ACTH level |
OMIM:219090 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Adrenal hyperplasia, Premature pubarche |
OMIM:201810 |
Marburg Hemorrhagic Fever |
|
Hyperamylasemia, Hypoalbuminemia, Thrombocytopenia, Hypokalemia, Leukopenia, Lymphadenopathy, Ele... |
ORPHA:99826 |
Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis, Nephrolithiasis |
ORPHA:722 |
Cushing Disease |
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Adrenal hyperplasia, Leukocytosis, Increased urinary cortisol level, Increased circulating cortis... |
ORPHA:96253 |
Cholera |
|
Hyponatremia, Hypokalemia, Achlorhydria, Hypocalcemia, Abnormal blood ion concentration |
ORPHA:173 |
Gitelman Syndrome |
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Hypokalemia, Failure to thrive, Hypomagnesemia, Increased circulating renin level, Delayed puberty |
OMIM:263800 |
Juvenile Nephropathic Cystinosis |
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Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Failure to thrive, Elevated circula... |
ORPHA:411634 |
Infantile Bartter Syndrome With Sensorineural Deafness |
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Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Small for gestational age, Failu... |
ORPHA:89938 |
Leprechaunism |
|
Central hypothyroidism, Megarectum, Rectal prolapse, Hepatomegaly, Hypokalemia, Failure to thrive... |
ORPHA:508 |
Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Cleft palate, Adrenal gland dysgenesis |
OMIM:236680 |
Congenital Tracheal Stenosis |
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Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, D... |
ORPHA:141127 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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High palate, Cleft palate, Hypokalemia |
OMIM:170390 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Failure to thrive, Hypophosphatemia, Abnormality of thyroid physiology, Abnormal blo... |
ORPHA:411629 |
Gitelman Syndrome |
|
Maternal diabetes, Type II diabetes mellitus, Primary hyperaldosteronism, Hypokalemia, Iron defic... |
ORPHA:358 |
Esophageal Atresia |
|
Pyloric stenosis, Dysphagia, Cleft palate, Maternal diabetes, Duodenal atresia, Morphological abn... |
ORPHA:1199 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Hypokalemia, Small for gestational age, Increased serum pro... |
OMIM:241200 |
Hennekam Syndrome |
|
Pyloric stenosis, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Malabsorption, Splen... |
ORPHA:2136 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Pyloric stenosis, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancrea... |
ORPHA:93111 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypokalemia, Weight loss, Hypophosphatemia, Hyperuricosuria, Decreased plasma carni... |
ORPHA:3337 |
Mercury Poisoning |
|
Hypokalemia |
ORPHA:330021 |
Turner Syndrome |
|
Abnormality of the ovary, Horseshoe kidney, Hepatic fibrosis, Gonadoblastoma, Osteoporosis, High ... |
ORPHA:881 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Abnormality of the ovary, Horseshoe kidney, Hepatic fibrosis, Gonadoblastoma, Osteoporosis, High ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Abnormality of the ovary, Horseshoe kidney, Hepatic fibrosis, Gonadoblastoma, Osteoporosis, High ... |
ORPHA:99228 |
Monosomy X |
|
Abnormality of the ovary, Horseshoe kidney, Hepatic fibrosis, Gonadoblastoma, Osteoporosis, High ... |
ORPHA:99226 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Diabetes insipidus, Hypokalemia, Thrombocytopenia, Failure to thrive, Hypophosphate... |
ORPHA:534 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Elevated circulating creatine kinase concentration, Congenital pyloric atresia |
ORPHA:158684 |
Ulnar-Mammary Syndrome |
|
Pyloric stenosis, Hypoplastic nipples, Ectopic anus, Anal atresia, Breast aplasia, Obesity, Crypt... |
ORPHA:3138 |
Doors Syndrome |
|
Adrenal hyperplasia, Thrombocytosis, High palate, Cleft palate, Congenital hypothyroidism, Narrow... |
ORPHA:79500 |
Proximal Renal Tubular Acidosis |
|
Hypokalemia, Failure to thrive, Malabsorption, Hyperuricosuria, Bicarbonaturia |
ORPHA:47159 |
Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Acute pancreatitis, Hypokalemia, Increased circula... |
ORPHA:466677 |
Distal Renal Tubular Acidosis |
|
Failure to thrive, Hemolytic anemia, Hypokalemia |
ORPHA:18 |
Ulnar-Mammary Syndrome |
|
Pyloric stenosis, Hypoplastic nipples, Axillary apocrine gland hypoplasia, Anal atresia, Anterior... |
OMIM:181450 |
Viss Syndrome |
|
High, narrow palate, Dysphagia, High palate, Malposition of the stomach, Celiac disease, Macroglo... |
OMIM:619472 |
Williams Syndrome |
|
Hypercalcemia, Failure to thrive in infancy, Rectal prolapse, Type II diabetes mellitus, Abnormal... |
ORPHA:904 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Intestinal atresia, Congenital pyloric atresia |
ORPHA:79403 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Abnormal intestine morphology, Gastrointestinal infarctions, Hypokalemia, Cr... |
ORPHA:286 |
Autosomal Recessive Spastic Paraplegia Type 62 |
|
Knee flexion contracture |
ORPHA:401785 |
Spastic Paraplegia 62, Autosomal Recessive |
|
|
OMIM:615681 |