Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Falls |
OMIM:615883 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Calvarial osteoscl... |
ORPHA:93324 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Bone cyst, Hypophosphatemia, Hypocalcemia, Osteomalacia, Abnormal bone structure, Gait disturbanc... |
ORPHA:93160 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Osteomalacia, Hypocalcemia |
OMIM:179800 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Osteomalacia, Rickets, Hypocalcemia |
ORPHA:89937 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemi... |
ORPHA:36913 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemic tetany, Hyperpho... |
ORPHA:94089 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Hypocalcemia, Osteomal... |
ORPHA:289157 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Genetic Recurrent Myoglobinuria |
|
Hypocalcemia, Difficulty walking, Hyperphosphatemia, Fatigable weakness of swallowing muscles, Hi... |
ORPHA:99845 |
Kenny-Caffey Syndrome, Type 1 |
|
Calvarial osteosclerosis, Hypomagnesemia, Hypocalcemia, Decreased skull ossification |
OMIM:244460 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Ataxia, Hypocalcemia |
OMIM:618476 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Hypoalbuminemia |
ORPHA:398063 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Bone cyst, Hypercalcemia |
ORPHA:2668 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Osteopenia, Generalized osteoporosis, Hypercalcemia, Infantile hypercalcemia |
ORPHA:99879 |
Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Hypocalcemia |
ORPHA:53 |
Oncogenic Osteomalacia |
|
Gait disturbance, Hypophosphatemia, Fibrous dysplasia of the bones, Hypocalcemia |
ORPHA:352540 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Metacarpal periosteal thickening, Hyperphosphatemia, Hypercalcemia, Calvarial osteosc... |
OMIM:617994 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia, Increased bone mineral density, Craniosynostosis, Osteopetrosis, Calvarial osteoscl... |
OMIM:259700 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Oculocerebrodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Reduced bone mineral density, Fatigable weakness, Hyperphosphatemia |
ORPHA:428 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Cholera |
|
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia, Lethargy |
ORPHA:173 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypercalcemia, Craniosynostosis |
OMIM:614732 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... |
ORPHA:31824 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... |
ORPHA:26793 |
Gracile Bone Dysplasia |
|
Hypocalcemia, Decreased skull ossification |
OMIM:602361 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Increased bone mineral density, Hyperphosphatemia, Transient hypophosphatemia, Thic... |
OMIM:127000 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Increased bone mineral density, Reduced bone mineral density, Ectopic ossification,... |
ORPHA:79443 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
Mitochondrial Trifunctional Protein Deficiency |
|
Lethargy, Hypocalcemia, Tip-toe gait |
ORPHA:746 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Increased bone mineral density, Ectopic ossification, Hypocalcemic tetany, Hyperpho... |
ORPHA:79444 |
Celiac Disease, Susceptibility To, 1 |
|
Ataxia, Hypocalcemia, Osteoporosis, Rickets |
OMIM:212750 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Increased bone mineral density, Decreased osteoclast count, Hyperbilirubinemia, Ost... |
OMIM:259720 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
OMIM:618440 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia |
ORPHA:90362 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia, Rickets |
OMIM:612089 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Subcutaneous ossification |
OMIM:103580 |
Hypercalcemia, Infantile, 1 |
|
Infantile hypercalcemia, Lethargy |
OMIM:143880 |
Hypophosphatasia |
|
Hypercalcemia, Craniosynostosis |
ORPHA:436 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis |
OMIM:612462 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... |
ORPHA:94093 |
Infantile Myofibromatosis |
|
Bone cyst, Osteolysis, Hypercalcemia |
ORPHA:2591 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... |
ORPHA:411634 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Thin bony cortex, Diff... |
OMIM:264700 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Elevated plasma pyrophosphate, Decreased calvarial ossification, Hypercalcemia,... |
OMIM:241500 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Fibrous dysplasia of the bones, Osteomalacia, Antalgic gait, Thin bony cortex, ... |
ORPHA:249 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulating creatine kin... |
ORPHA:36234 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Ethylene Glycol Poisoning |
|
Ataxia, Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Visceral Steatosis, Congenital |
|
Hypocalcemia, Lethargy |
OMIM:228100 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hypophosphatemia, Waddling gait, Hypercalcemia |
OMIM:156400 |
Paget Disease Of Bone 2, Early-Onset |
|
Osteosclerosis of the ulna, Sclerosis of skull base, Osteolysis, Hypercalcemia |
OMIM:602080 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hy... |
ORPHA:405 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoa... |
ORPHA:37042 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Sparse bone trabeculae, Hypophosphatemia, Thin bony cortex, Diff... |
OMIM:277440 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany |
ORPHA:73224 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia, Abnormal bone ossification, Abnormally ossified vertebrae |
ORPHA:175 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hype... |
ORPHA:466650 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia, Reduced bone mineral density, Osteopetrosis, Craniosynostosis |
ORPHA:667 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Reduced bone mineral density, Osteopenia, Thin bony cortex, Unconjugated hyperbilir... |
OMIM:613658 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Pearson Syndrome |
|
Ataxia, Hypophosphatemia, Hypomagnesemia, Hypokalemia, Hypocalcemia, Hyperalaninemia |
ORPHA:699 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Hypercalcemia |
ORPHA:97289 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemic tetany, Hyperphosphatemia, Calvarial ost... |
ORPHA:93325 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Late-Onset Isolated Acth Deficiency |
|
Generalized bone demineralization, Hyponatremia, Hyperuricemia, Hypercalcemia, Lethargy |
ORPHA:199299 |
Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Elevated circulating creatine kinase concentration, Hypocalcemia |
ORPHA:2785 |
Cranioectodermal Dysplasia 1 |
|
Sagittal craniosynostosis, Hypocalcemia, Osteoporosis |
OMIM:218330 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Hypercalcemia, Craniosynostosis |
ORPHA:251004 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
Gitelman Syndrome |
|
Hypocalcemia, Hypomagnesemia, Hypokalemia, Hypermagnesemia |
ORPHA:358 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Hennekam Syndrome |
|
Hypocalcemia, Craniosynostosis |
ORPHA:2136 |
22Q11.2 Deletion Syndrome |
|
Multiple suture craniosynostosis, Hypocalcemia |
ORPHA:567 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypophosphatemia, Hypercalcemia |
OMIM:239200 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Fibrous dysplasia of the bones, Osteomalacia, Patchy variation in bone mineral ... |
ORPHA:437 |
Mastocytosis |
|
Osteoporosis, Hypercalcemia |
ORPHA:98292 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Gait ataxia, Hypercalcemia |
ORPHA:476126 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... |
OMIM:619991 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypomagnesemia, Hypokalemia, Osteopenia, Increased circulating renin level, Hypercalcemia, Increa... |
OMIM:601678 |
Multiple Myeloma |
|
Osteopenia, Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia |
ORPHA:29073 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Osteopenia, Hypercalcemia, Craniosynostosis |
ORPHA:369837 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Acute Adrenal Insufficiency |
|
Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia, Hyperkalemia |
ORPHA:95409 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Broad-based gait, Hypomagnesemia, Hypocalcemia, Tip-toe gait, Falls |
OMIM:619503 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Infantile hypercalcemia, Hypophosphatemia, Osteoporosis, Hypercalcemia |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Infantile hypercalcemia, Hypophosphatemia, Osteoporosis, Hypercalcemia |
ORPHA:143 |
Addison Disease |
|
Increased circulating renin level, Generalized bone demineralization, Hyponatremia, Hyperuricemia... |
ORPHA:85138 |
Monosomy 13Q34 |
|
Infantile hypercalcemia |
ORPHA:96168 |
Osteopetrosis, Autosomal Recessive 7 |
|
Osteopetrosis, Hypocalcemic seizures, Abnormal trabecular bone morphology |
OMIM:612301 |
Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia |
ORPHA:88673 |
Digeorge Syndrome |
|
Hypocalcemia |
OMIM:188400 |
Charge Syndrome |
|
Hypocalcemia |
OMIM:214800 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Vipoma |
|
Hypokalemia, Hypercalcemia |
ORPHA:97282 |
Multiple Endocrine Neoplasia Type 1 |
|
Osteolysis, Hypercalcemia, Lethargy, Reduced bone mineral density |
ORPHA:652 |
Johanson-Blizzard Syndrome |
|
Increased VLDL cholesterol concentration, Hypocalcemia |
OMIM:243800 |
Ppoma |
|
Hypercalcemia |
ORPHA:97278 |
Williams Syndrome |
|
Gait imbalance, Ataxia, Increased bone mineral density, Dysmetria, Abnormal circulating lipid con... |
ORPHA:904 |
Somatostatinoma |
|
Hypercalcemia |
ORPHA:97283 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
Grfoma |
|
Hypercalcemia |
ORPHA:97261 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Glucagonoma |
|
Hypercalcemia |
ORPHA:97280 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
Williams-Beuren Syndrome |
|
Gait imbalance, Osteopenia, Osteoporosis, Hypercalcemia |
OMIM:194050 |
Sarcoidosis |
|
Bone cyst, Hypercalcemia |
ORPHA:797 |
Sotos Syndrome |
|
Hypercalcemia, Craniosynostosis |
ORPHA:821 |