Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Hypocalcemia, Malabsorption |
ORPHA:100025 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia, Peptic ulcer |
OMIM:145981 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Infantile Myofibromatosis |
|
Hypercalcemia, Intestinal obstruction, Abnormal intestine morphology, Tracheoesophageal fistula |
ORPHA:2591 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Malabsorption |
ORPHA:172 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Hypercalcemia |
ORPHA:69077 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-losing ent... |
OMIM:175500 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Hypermagnesemia, Peptic ulcer, Hypophosphatemia |
OMIM:600740 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Hypophosphatemia, Protein-losing enteropathy, Hypocalcemia, Hypoa... |
ORPHA:398063 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Oculoskeletodental Syndrome |
|
Macroglossia, Hypercalcemia, Protein-losing enteropathy, Hypocalcemia |
OMIM:618440 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia, Cystinuria |
ORPHA:163693 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Preeclampsia |
|
Helicobacter pylori infection, Elevated circulating creatinine concentration |
ORPHA:275555 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Aminoaciduria, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Peptic ulcer, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration |
OMIM:619468 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Hypercalcemia |
OMIM:602080 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Celiac disease, Hyperkalemia, Hyperuricemia |
ORPHA:199299 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Functional abnorm... |
ORPHA:29073 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Elevated circulating creatinine concentration |
ORPHA:567544 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Zollinger-Ellison syndrome, Peptic ulcer, Esophagitis |
OMIM:131100 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Hypocalcemia |
ORPHA:1438 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Intestinal perforation, Rectal prolapse, Colonic stenosis, Elevated circulating cre... |
ORPHA:90038 |
Monosomy 13Q34 |
|
Hematochezia, Hypercalcemia |
ORPHA:96168 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Hypercalcemia,... |
ORPHA:913 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Protein-losing enteropathy, Hypoalbuminemia |
OMIM:608104 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
High palate, Hypercalcemia |
ORPHA:476126 |
Hypouricemia, Renal, 1 |
|
Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:95409 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, High, narrow palate, Gastroesophageal reflux, Abnormal gastr... |
ORPHA:369837 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Vipoma |
|
Hypercalcemia, Malabsorption, Hematochezia, Neoplasm of the liver, Hypokalemia, Abnormal gastroin... |
ORPHA:97282 |
Addison Disease |
|
Hyponatremia, Hypercalcemia, Celiac disease, Hyperkalemia, Increased circulating renin level, Hyp... |
ORPHA:85138 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine |
ORPHA:54057 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Cleft palate, High palate, Increased blood urea ni... |
OMIM:154230 |
Ppoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Intestinal carcinoid, Neoplas... |
ORPHA:97278 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Cystinuria |
OMIM:606407 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Steatorrhea, Neoplasm of the ... |
ORPHA:97283 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hematochezia, Hypoalbuminemia, Protein-losing enteropathy, Hy... |
OMIM:618183 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... |
ORPHA:85450 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Grfoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Zollinger-Ellison syndrome, I... |
ORPHA:97261 |
X-Linked Agammaglobulinemia |
|
Glossoptosis, Hypocalcemia, Malabsorption |
ORPHA:47 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia, Peptic ulcer, Dysphagia |
ORPHA:99880 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia, Peptic ulcer, Dysphagia |
ORPHA:143 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Abnormal gastrointestinal mot... |
ORPHA:97280 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Aminoacid... |
ORPHA:411634 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Bifid uvula, Hypocalcemic seizures |
OMIM:241410 |
Intermediate Osteopetrosis |
|
Hypocalcemia |
ORPHA:210110 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Hypercalcemia, Abnormal tongue morphology, Neoplasm of the liver, Ganglion... |
ORPHA:653 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypocalcemi... |
ORPHA:247353 |
Double Outlet Right Ventricle |
|
Hypocalcemia, Submucous cleft hard palate, Intestinal malrotation, Cleft palate |
ORPHA:3426 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Zollinger-Ellison syndrome, Peptic ulcer, Esophagitis |
ORPHA:276152 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypokalemia, Aminoaciduria, Gastroesophageal reflux, High palate, Hypoc... |
OMIM:617913 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Malabsorption, Hypomagnesemia, Ileus, Abnormal blood ion concentration, Colitis, Abnor... |
ORPHA:37042 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Cholera |
|
Hyponatremia, Achlorhydria, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Sanjad-Sakati Syndrome |
|
Intestinal obstruction, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Aapoaiv Amyloidosis |
|
Abnormality of the gastrointestinal tract, Hyperlipidemia, Elevated circulating creatinine concen... |
ORPHA:439232 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cleft palate, High palate, Hypocalcemia, Protein-losing enteropathy, Hypoproteinemia |
OMIM:235255 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
Gracile Bone Dysplasia |
|
Ankyloglossia, Hypocalcemia |
OMIM:602361 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H... |
ORPHA:94093 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration |
ORPHA:90060 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Gastroesophageal reflux, Increased blood urea nitr... |
OMIM:223900 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Hypercalcemia, Hematemesis, Melena, Zollinger-Ellison syndrome, Gas... |
ORPHA:652 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia, High palate, Protein-losing enteropathy |
ORPHA:1655 |
Celiac Disease, Susceptibility To, 1 |
|
Celiac disease, Hypocalcemia, Steatorrhea |
OMIM:212750 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Williams Syndrome |
|
Colonic diverticula, Peptic ulcer, Hypercalcemia, Malabsorption, Elevated circulating creatine ki... |
ORPHA:904 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Elevated circulating creatinine concentration |
ORPHA:247691 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration |
OMIM:266900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79444 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Williams-Beuren Syndrome |
|
Colonic diverticula, Hypercalcemia, Celiac disease, Rectal prolapse, Gastroesophageal reflux |
OMIM:194050 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Igg4-Related Thyroid Disease |
|
Sialadenitis, Hypocalcemia, Dysphagia |
ORPHA:64744 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Intestinal perforation, Hyperkalemia, Gastrointestinal infarctions, Hypocalcemia, I... |
ORPHA:544482 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Gastritis, Hypocalcemia |
ORPHA:31826 |
Isotretinoin-Like Syndrome |
|
Gastroesophageal reflux, Hypocalcemia, Cleft palate |
ORPHA:2306 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Sarcoidosis |
|
Enlargement of parotid gland, Abnormality of the gastrointestinal tract, Hypercalcemia, Parotitis |
ORPHA:797 |
Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Hypocalcemia, Cleft palate |
OMIM:192430 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79443 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Hypocalcemia, Malabsorption |
ORPHA:175 |
Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Hyperkalemia, Elevated circulating creatinine concentration, Melena, Hyperphosphatemia |
ORPHA:340 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemic seizures, Hypocalcemia, Cleft palate |
ORPHA:2237 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Pearson Syndrome |
|
Hypomagnesemia, Dysphagia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Steatorrhea, Hyperalanine... |
ORPHA:699 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Intestinal malrotation, Esophageal varix, Gastroesophageal reflux, Hypocalcemia, High palate, Hyp... |
OMIM:613658 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Marburg Hemorrhagic Fever |
|
Abnormality of the gastrointestinal tract, Elevated circulating creatine kinase concentration, Hy... |
ORPHA:99826 |
Hennekam Syndrome |
|
Pyloric stenosis, Hypocalcemia, Malabsorption |
ORPHA:2136 |
Sotos Syndrome |
|
Gastroesophageal reflux, Aganglionic megacolon, Hypercalcemia |
ORPHA:821 |
Pauci-Immune Glomerulonephritis |
|
Abnormality of the gastrointestinal tract, Elevated circulating creatinine concentration |
ORPHA:93126 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia, Cleft palate |
OMIM:300712 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Hypocalcemia, Cleft palate |
ORPHA:163979 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Anorectal anomaly, Cl... |
ORPHA:567 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Chronic gastritis, Elevated circulating alpha-fetoprotein concentration, Increased ... |
OMIM:619991 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany, Recurrent infection of the gastrointestinal tract, Malabsorption |
ORPHA:83471 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Gitelman Syndrome |
|
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Cranioectodermal Dysplasia 1 |
|
High, narrow palate, High palate, Hypocalcemia |
OMIM:218330 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, High palate, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
Yellow Fever |
|
Hematemesis, Elevated circulating creatinine concentration, Elevated circulating creatine kinase ... |
ORPHA:99829 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Malabsorption |
ORPHA:289176 |
Igg4-Related Kidney Disease |
|
Sialadenitis, Elevated circulating creatinine concentration, Decreased retinol-binding protein le... |
ORPHA:449395 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cleft soft palate, Esophageal varix, Dysphagia, High palate, Hypocalcemia, Hypomagnesemia |
OMIM:619503 |
Charge Syndrome |
|
Anal stenosis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Hypocalcemia, Dysphag... |
OMIM:214800 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Increased VLDL cholesterol concentration, Malabsorption, Conjugated hyperbil... |
OMIM:243800 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Elevated circulating creatinine concentration, Elevated circulating C-reactive pro... |
ORPHA:91500 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hypocalcemia, High palate, Bifid uvula |
OMIM:620330 |
Digeorge Syndrome |
|
High, narrow palate, Cleft palate, High palate, Gastroesophageal reflux, Hypocalcemia, Bifid uvula |
OMIM:188400 |