Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Hypervitaminosis A, Susceptibility To |
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Abnormality of the liver, Hypercalcemia |
OMIM:240150 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
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Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Diffuse Neonatal Hemangiomatosis |
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Hypercalcemia, Abnormal vagina morphology, Hepatomegaly |
ORPHA:2123 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
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Hypospadias, Hypercalcemia, Micropenis, Cryptorchidism |
OMIM:614732 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Hypoparathyroidism, Familial Isolated, 2 |
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Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
Progressive Familial Intrahepatic Cholestasis |
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Hepatomegaly, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice |
ORPHA:172 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Hypercalcemia, Infantile, 2 |
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Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Blue Diaper Syndrome |
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Elevated hepatic transaminase, Hypercalcemia, Hyperphosphatemia |
ORPHA:94086 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Premature ovarian insufficiency, Hypocalcemia |
ORPHA:100025 |
Rhabdoid Tumor |
|
Hypercalcemia, Neoplasm of the liver |
ORPHA:69077 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertri... |
OMIM:612526 |
Myopathy, Tubular Aggregate, 2 |
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Elevated circulating creatine kinase concentration, Hypocalcemia |
OMIM:615883 |
Hyperparathyroidism 2 With Jaw Tumors |
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Hypercalcemia, Pancreatic adenocarcinoma, Recurrent pancreatitis |
OMIM:145001 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
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Elevated hepatic transaminase, Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Hypomagnesemia 1, Intestinal |
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Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
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Hypercalcemia |
ORPHA:2668 |
Oculoskeletodental Syndrome |
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Hypercalcemia, Hepatomegaly, Splenomegaly, Hypocalcemia, Cryptorchidism |
OMIM:618440 |
Pseudohypoparathyroidism Type 2 |
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Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
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Hypercalcemia |
OMIM:239199 |
Pseudohypoparathyroidism, Type Ii |
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Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Non-Functioning Paraganglioma |
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Tremor, Hypercalcemia |
ORPHA:94080 |
Hypocalciuric Hypercalcemia, Familial, Type I |
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Hypermagnesemia, Hypercalcemia, Pancreatitis |
OMIM:145980 |
Diethylstilbestrol Syndrome |
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Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... |
ORPHA:1916 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2239 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
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Hypermagnesemia, Hypercalcemia, Pancreatitis |
OMIM:145981 |
Oculocerebrodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Hypophosphatasia, Infantile |
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Hypercalcemia, Stillbirth, Elevated plasma pyrophosphate |
OMIM:241500 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypocalcemia |
ORPHA:163693 |
Infantile Myofibromatosis |
|
Hypercalcemia, Neoplasm of the pancreas |
ORPHA:2591 |
Uremic Pruritus |
|
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia |
ORPHA:94059 |
Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Hepatomegaly, Calcinosis, Hypophosphatemia, Splenomegaly |
OMIM:239200 |
Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Hepatomegaly, Hypokalemia, Hemobilia, Hepatic necrosis, Hyperbilirub... |
ORPHA:88673 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Hypocalcemia, Autosomal Dominant 1 |
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Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
Hypercalcemia, Infantile, 1 |
|
Infantile hypercalcemia |
OMIM:143880 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Hypermagnesemia, Hypercalcemia, Hypophosphatemia, Pancreatitis |
OMIM:600740 |
Familial Hypocalciuric Hypercalcemia |
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Hypercalcemia, Hypocalcemic seizures, Pancreatitis, Infantile hypercalcemia, Renal hypophosphatem... |
ORPHA:405 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Late-Onset Isolated Acth Deficiency |
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Hyponatremia, Hypercalcemia, Hepatitis, Hyperuricemia, Premature ovarian insufficiency |
ORPHA:199299 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Pancreatic islet cell adenoma |
ORPHA:97289 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Micropenis, Hypocalcemia, Cryptorchidism, Hyperphosphatemia |
OMIM:241410 |
Mastocytosis |
|
Hypercalcemia, Hepatomegaly, Splenomegaly |
ORPHA:98292 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Hypercalcemia, Uterine leiomyoma, Pancreatic adenocarcinoma, Hypophosphatemia, Pancreatitis, Infa... |
ORPHA:99880 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Hypercalcemia |
ORPHA:276621 |
Parathyroid Carcinoma |
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Hypercalcemia, Uterine leiomyoma, Pancreatic adenocarcinoma, Hypophosphatemia, Pancreatitis, Infa... |
ORPHA:143 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hypoproteinemia, Hepatomegaly, Splenomegaly, Abnormality of the uterus, Vaginal atresia, Hepatosp... |
ORPHA:1655 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypophosphatemia, Hypomagnesemia, Abnormal spleen physiology, H... |
ORPHA:398063 |
Ppoma |
|
Hypercalcemia, Hepatomegaly, Neoplasm of the pancreas, Cholelithiasis, Extrahepatic cholestasis, ... |
ORPHA:97278 |
Vipoma |
|
Hypercalcemia, Hepatomegaly, Hypokalemia, Neoplasm of the pancreas, Neoplasm of the liver, Extrah... |
ORPHA:97282 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Tremor, Hypercalcemia |
ORPHA:476126 |
Addison Disease |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Primary testicular failure, Premature o... |
ORPHA:85138 |
Somatostatinoma |
|
Hypercalcemia, Hepatomegaly, Gallbladder dysfunction, Neoplasm of the pancreas, Extrahepatic chol... |
ORPHA:97283 |
Fibrous Dysplasia Of Bone |
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Hypercalcemia, Precocious puberty in females, Hypophosphatemia, Ovarian cyst, Testicular neoplasm |
ORPHA:249 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Hypocalcemia |
OMIM:606407 |
Autosomal Recessive Kenny-Caffey Syndrome |
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Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Hypoproteinemia, Hepatomegaly, Splenomegaly, Micropenis, Pancreatic lymphangiectasis, Hepatic fai... |
OMIM:235255 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia, Cryptorchidism |
OMIM:618183 |
Monosomy 13Q34 |
|
Hepatic steatosis, Infantile hypercalcemia |
ORPHA:96168 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Hyperuricemia, Increased circulating renin level |
ORPHA:95409 |
Grfoma |
|
Hypercalcemia, Hepatomegaly, Neoplasm of the pancreas, Cholelithiasis, Extrahepatic cholestasis, ... |
ORPHA:97261 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:36913 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Stillbirth, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Hypocalcemia |
OMIM:259720 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Cervix cancer, Insulinoma, Abnormality of pancreas physiology, Extrahepatic choles... |
ORPHA:276152 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Micropenis, Cryptorchidism, Hypocalcemia |
OMIM:607143 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hypocalcemia, Elevated hepatic transaminase, Hyper... |
ORPHA:99845 |
Gracile Bone Dysplasia |
|
Micropenis, Hypoplastic spleen, Asplenia, Hypocalcemia |
OMIM:602361 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Hypercalcemia |
ORPHA:29072 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Precocious puberty, Hypertriglyceridemia |
ORPHA:369837 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly |
ORPHA:29073 |
Glucagonoma |
|
Hypercalcemia, Hepatomegaly, Neoplasm of the pancreas, Extrahepatic cholestasis, Intrahepatic cho... |
ORPHA:97280 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Hypomagnesemia, Hype... |
OMIM:601678 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94089 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Increased circ... |
ORPHA:26793 |
Sanjad-Sakati Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Multiple Endocrine Neoplasia, Type I |
|
Insulinoma, Hypercalcemia, Pancreatic islet cell adenoma |
OMIM:131100 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia, Cervical neoplasm, Neoplasm of the liver |
ORPHA:653 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Elevated circulating creatinine concent... |
OMIM:137920 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia |
OMIM:179800 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Peritoneal effusion |
ORPHA:90362 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Hypernatremia, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:94093 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia, Extrahepatic cholestasis, Jaundice |
ORPHA:913 |
X-Linked Agammaglobulinemia |
|
Hepatitis, Hypocalcemia |
ORPHA:47 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Visceral Steatosis, Congenital |
|
Jaundice, Hepatic steatosis, Neonatal death, Hypocalcemia |
OMIM:228100 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Neoplasm of the pancreas, Abnormality of the liver, Papillary cystadenoma of th... |
OMIM:193300 |
Colchicine Poisoning |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal blood ion con... |
ORPHA:31824 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia |
OMIM:244460 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Splenomegaly, Hypocalcemia |
OMIM:259700 |
Mitochondrial Trifunctional Protein Deficiency |
|
Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis, Hypocalcemia |
ORPHA:746 |
Hypophosphatemic Rickets |
|
Hypercalcemia, Hypophosphatemia, Precocious puberty |
ORPHA:437 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Aplasia of the uterus, Hypocalcemic seizures, Uterus didelphys, Vaginal atresia, Septate vagina, ... |
ORPHA:2237 |
Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Peritonitis, Elevated circulating creatine kinase concentration, Elevated circul... |
ORPHA:36234 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Williams Syndrome |
|
Hypercalcemia, Urethral stenosis, Abnormal circulating lipid concentration, Elevated circulating ... |
ORPHA:904 |
Pearson Syndrome |
|
Hepatomegaly, Hypokalemia, Macronodular cirrhosis, Hypophosphatemia, Hyperalaninemia, Hypomagnese... |
ORPHA:699 |
Pseudohypoparathyroidism, Type Ic |
|
Hypogonadism, Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypergonadotropic hypogonadism, Hypocalce... |
ORPHA:79444 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Cryptorchidism, Absent gallbladder, Hypocalcemia |
OMIM:300712 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Bile duct proliferation, Small scrotum, Cirrhos... |
OMIM:613658 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Hyperbilirubinemia, Absent gallbladder, Micropenis, Hypocalcemia, Cryptorchidism |
ORPHA:163979 |
Sarcoidosis |
|
Hypercalcemia, Hepatomegaly, Abnormal reproductive system morphology, Abnormal liver parenchyma m... |
ORPHA:797 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Hypomagnesemia, Hepatic calcification, Hypocalcemic tetany, Hypocalcemia |
ORPHA:73224 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Hepatitis, Hypocalcemia, Splenomegaly, Hypomagnesemia, Hypoalbuminemi... |
ORPHA:37042 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Igg4-Related Thyroid Disease |
|
Retroperitoneal fibrosis, Pancreatic fibrosis, Sclerosing cholangitis, Hypocalcemia |
ORPHA:64744 |
Pseudohypoparathyroidism, Type Ia |
|
Hypogonadism, Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... |
ORPHA:411634 |
Sotos Syndrome |
|
Hypospadias, Hypercalcemia, Congenital posterior urethral valve, Phimosis, Tremor, Prolonged neon... |
ORPHA:821 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Insulinoma, Neoplasm of the pancreas |
ORPHA:652 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Hypergonadotropic hypogonadism, Hypocalce... |
ORPHA:79443 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia |
ORPHA:428 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Hypocalcemia |
OMIM:212750 |
Velocardiofacial Syndrome |
|
Cryptorchidism, Hypocalcemia |
OMIM:192430 |
Williams-Beuren Syndrome |
|
Hypercalcemia, Micropenis, Portal hypertension, Urethral stenosis |
OMIM:194050 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic cysts, Hepatic ... |
OMIM:218330 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypospadias, Hypogonadism, Hypocalcemia, Cryptorchidism, Hyperphosphatemia |
ORPHA:280651 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Elevated circulating creatine kinase concentration, Decreased liver function, Hepat... |
ORPHA:466650 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Hypophosphatemia, Splenomegaly, Tremor, Hypocalcemia |
ORPHA:667 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of the pancreas, Hypocalcemia |
ORPHA:175 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Johanson-Blizzard Syndrome |
|
Hypospadias, Rectovaginal fistula, Increased VLDL cholesterol concentration, Urethrovaginal fistu... |
OMIM:243800 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Hepatomegaly, Hypocalcemia |
ORPHA:2785 |
Floating-Harbor Syndrome |
|
Hypospadias, Congenital posterior urethral valve, Varicocele, Epididymal cyst, Cryptorchidism |
OMIM:136140 |
Von Hippel-Lindau Disease |
|
Pancreatic cysts, Neoplasm of the pancreas, Epididymal cyst, Papillary cystadenoma of the epididy... |
ORPHA:892 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Cholelithiasis, Splenomegaly, Abnormality of the uterus, Hypocalcemia, Cryptorchidism |
ORPHA:567 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hyponatremia, Pancreatitis, Hypocalcemia |
ORPHA:544482 |
Gitelman Syndrome |
|
Hypokalemia, Neoplasm of the pancreas, Hypomagnesemia, Hypocalcemia, Hypermagnesemia |
ORPHA:358 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Decreased testicular size, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Hennekam Syndrome |
|
Splenomegaly, Hypocalcemia |
ORPHA:2136 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Unicornuate uterus, Hypomagnesemia, Hepatic steatosis, Hepatosplenomegaly, Micropenis, Cholestasi... |
OMIM:619503 |
Floating-Harbor Syndrome |
|
Hypospadias, Congenital posterior urethral valve, Varicocele, Epididymal cyst, Cryptorchidism, Pr... |
ORPHA:2044 |
Charge Syndrome |
|
Labial hypoplasia, Hypogonadotropic hypogonadism, External genital hypoplasia, Micropenis, Hypopl... |
OMIM:214800 |
Thymic Aplasia |
|
Hypocalcemic tetany, Atypical or prolonged hepatitis |
ORPHA:83471 |
Digeorge Syndrome |
|
Cholelithiasis, Hypocalcemia |
OMIM:188400 |