Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:144010 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... |
OMIM:619868 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616828 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... |
OMIM:207750 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97289 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia |
OMIM:616267 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Hypercalcemia, Calcinosis |
OMIM:239200 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
OMIM:618440 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcemia, Hyponatremia |
ORPHA:199299 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Hypercalcemia |
ORPHA:251004 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... |
OMIM:238600 |
Familial Hypocalciuric Hypercalcemia |
|
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:405 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:615812 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin le... |
ORPHA:95409 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Monosomy 13Q34 |
|
Hypercalcemia |
ORPHA:96168 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Galactokinase Deficiency |
|
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia |
ORPHA:79237 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... |
ORPHA:247585 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Mastocytosis |
|
Hypercalcemia |
ORPHA:98292 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hyperaldosteronism, Hypokalemia, Increased circulating renin le... |
OMIM:601678 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level |
ORPHA:249 |
Refractory Celiac Disease |
|
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:398063 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia |
OMIM:612462 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
ORPHA:412 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... |
OMIM:278000 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Increased circulating cortisol level |
OMIM:131100 |
Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:528 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Addison Disease |
|
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin le... |
ORPHA:85138 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia |
ORPHA:88673 |
Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Intermediate Osteopetrosis |
|
Hypocalcemia |
ORPHA:210110 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... |
OMIM:210250 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Somatostatinoma |
|
Hypercalcemia, Steatorrhea, Increased circulating cortisol level |
ORPHA:97283 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Vipoma |
|
Hypokalemia, Hypercalcemia, Increased circulating cortisol level |
ORPHA:97282 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Ppoma |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97278 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:264700 |
Glucagonoma |
|
Hypercalcemia, Steatorrhea, Increased circulating cortisol level |
ORPHA:97280 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:913 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94089 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Grfoma |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:97261 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Increased circulating cortisol level |
ORPHA:276152 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... |
ORPHA:26793 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:370 |
Cholera |
|
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia |
ORPHA:173 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:289157 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany |
ORPHA:73224 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... |
ORPHA:411634 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Increased LDL cholesterol conce... |
ORPHA:470 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Hypercholesterolemia |
OMIM:248370 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hyperkalemia, Steatorrhea, Xanthelasma, Hyponatremia, Hypertriglyceridemia |
ORPHA:275761 |
Multiple Endocrine Neoplasia Type 1 |
|
Primary hypercortisolism, Hypercalcemia, Increased circulating cortisol level |
ORPHA:652 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:79444 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia |
ORPHA:428 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypocalcemia, Hypokalemia, Hyponatremia |
OMIM:617913 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatinine concentration, Hypocalcemia, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Gaisböck Syndrome |
|
Hyperuricemia, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia, Hypertr... |
ORPHA:90041 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia, Steatorrhea |
OMIM:212750 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
Williams Syndrome |
|
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... |
ORPHA:904 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Abnormal blood ion concentration, Hypocalcemia, Hypomagnesemia, Hypoa... |
ORPHA:37042 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:79443 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperuricemia, Xanthelasma, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79259 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Sarcoidosis |
|
Hypercalcemia |
ORPHA:797 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperaldosteronism, Hyponatremia, Hypophosphatemia, Hypokalemia, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Williams-Beuren Syndrome |
|
Hypercalcemia |
OMIM:194050 |
Pearson Syndrome |
|
Hyperalaninemia, Hypokalemia, Hypophosphatemia, Steatorrhea, Hypocalcemia, Hypomagnesemia |
ORPHA:699 |
Isotretinoin-Like Syndrome |
|
Hypocalcemia |
ORPHA:2306 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia |
ORPHA:175 |
Gitelman Syndrome |
|
Hypokalemia, Primary hyperaldosteronism, Hypermagnesemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fetoprotein, Elevated ci... |
OMIM:309000 |
Visceral Steatosis, Congenital |
|
Hypocalcemia |
OMIM:228100 |
Sotos Syndrome |
|
Hypercalcemia |
ORPHA:821 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Unconjugated hyperbilirubinemia, Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
Hennekam Syndrome |
|
Hypocalcemia |
ORPHA:2136 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
22Q11.2 Deletion Syndrome |
|
Hypocalcemia |
ORPHA:567 |
Liver Disease, Severe Congenital |
|
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al... |
OMIM:619991 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... |
OMIM:619534 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypocalcemia, Hypomagnesemia |
OMIM:619503 |
Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
Digeorge Syndrome |
|
Hypocalcemia |
OMIM:188400 |
Charge Syndrome |
|
Hypocalcemia |
OMIM:214800 |
Johanson-Blizzard Syndrome |
|
Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |