Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
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 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav... |
OMIM:614963 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Cerebellar calcifications, Chorea, Depression, Athetosis, Dementia, Thalamic calcification, Cogni... |
OMIM:615483 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Dystonia 30 |
|
Impulsivity, Hypothalamic hamartoma, Compulsive behaviors, Aggressive behavior |
OMIM:619291 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Cerebellar hypoplasia, Cereb... |
OMIM:604213 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Mental deterioration, Thalamic calcification, Cerebellar calcifications, Limb ataxia |
OMIM:618824 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Impulsivity, Interhypothalamic adhesion, Self-injurious behavior, Attention deficit hyperactivity... |
OMIM:618929 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Short attention span, Ataxia, Emotional lability, Hypothalamic atrophy, Lateral ventricle dilatat... |
ORPHA:2822 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Abnormal medulla oblongata morphology, Ataxia, Confusion, Abnormal cerebellum morph... |
ORPHA:68 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Agenesis of corpus callosu... |
ORPHA:314621 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Abnormal thalamic MRI signal intensity, Dysphagia |
ORPHA:363717 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Ataxia, T2 hypointense thalamus, Gait ataxia, Dementia, Cognitive impairment,... |
ORPHA:1947 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Cach Syndrome |
|
Cerebellar atrophy, Progressive neurologic deterioration, T2 hypointense thalamus, Truncal ataxia... |
ORPHA:135 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Hypoesthesia, Chorea, Dysmetria, Thalamic calcification, Dysphagia, Mental deterioration,... |
OMIM:618317 |
Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the pons, Attention deficit hyperactivity dis... |
ORPHA:467166 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
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 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Craniopharyngioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Pituitary hypothyroidism, Abnormal ... |
ORPHA:54595 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration |
ORPHA:140286 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Fusion of the left and right thalami, Agenesis of corpus callosum |
OMIM:617542 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
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 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Cerebellar dysplasia |
OMIM:616490 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Hypothalamic hamartoma, Attention deficit hyperactivity disorder, Aggress... |
ORPHA:649929 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume, Cerebellar hypoplasia |
OMIM:619072 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Abnormal thalamic MRI signal intens... |
ORPHA:70595 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Depression, Dementia, Focal T2 hyperintense thalamic lesion, Progressive lang... |
ORPHA:79264 |
Pallister-Hall-Like Syndrome |
|
Chiari type I malformation, Anterior hypopituitarism, Hypothalamic hamartoma |
OMIM:241800 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
OMIM:618440 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia |
ORPHA:199299 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Neuroferritinopathy |
|
T2 hypointense thalamus, Chorea, Subcortical dementia, Dysphagia, Abnormal thalamic MRI signal in... |
ORPHA:157846 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ... |
ORPHA:254881 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Olivopontocerebellar hypoplasia, ... |
ORPHA:370959 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Congenital Disorder Of Deglycosylation 2 |
|
Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia, Hypothalamic hamartoma, Dy... |
OMIM:619775 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:95409 |
Coasy Protein-Associated Neurodegeneration |
|
Cognitive impairment, Abnormal thalamus morphology, Compulsive behaviors |
ORPHA:397725 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Short attention span, Cerebellar vermis hypoplasia, Partial agenesis of the corpu... |
ORPHA:300570 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia |
ORPHA:276621 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon |
ORPHA:2570 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Monosomy 13Q34 |
|
Hypercalcemia |
ORPHA:96168 |
New-Onset Refractory Status Epilepticus |
|
Cerebellar edema, Abnormal thalamic MRI signal intensity, Confusion, Cognitive impairment |
ORPHA:363558 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Obsessive-compulsive trait, Hypothalamic hamartoma, Attention deficit hyperactivity disorder |
OMIM:619908 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Memory impairment, Dementia, Disinhibition, T2 hypointense thalamus |
OMIM:618193 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Agenesis of cerebellar vermis, Ataxia, Abnormal dentate nuc... |
ORPHA:59315 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Addison Disease |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:85138 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia |
ORPHA:29072 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Aceruloplasminemia |
|
Ataxia, Chorea, Abnormal thalamic MRI signal intensity, Limb ataxia, Gait ataxia, Cognitive impai... |
ORPHA:48818 |
Acute Disseminated Encephalomyelitis |
|
Somatic sensory dysfunction, Ataxia, Confusion, Aggressive behavior, Abnormal cerebellum morpholo... |
ORPHA:83597 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume, Dysphagia |
OMIM:613668 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Intermediate Osteopetrosis |
|
Hypocalcemia |
ORPHA:210110 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Abnormal thalamic MRI signal intensity, Dysphagia |
ORPHA:485421 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Abnormality of the diencephalon, Ataxia |
ORPHA:2720 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen |
ORPHA:90321 |
Leigh Syndrome |
|
Cerebellar atrophy, Ataxia, Progressive neurologic deterioration, Chorea, Abnormal thalamic MRI s... |
ORPHA:506 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Short attention span, Abnormal thalamic MRI signal intensity, Dysmetria, Depr... |
ORPHA:845 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Vipoma |
|
Hypokalemia, Hypercalcemia |
ORPHA:97282 |
Japanese Encephalitis |
|
Anorexia, Paucity of anterior horn motor neurons, Choreoathetosis, Abnormal pons morphology, Foca... |
ORPHA:79139 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Fusion of the left... |
OMIM:619306 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Ppoma |
|
Hypercalcemia |
ORPHA:97278 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Somatostatinoma |
|
Hypercalcemia |
ORPHA:97283 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
3P25.3 Microdeletion Syndrome |
|
Abnormal thalamus morphology, Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperacti... |
ORPHA:435638 |
Grfoma |
|
Hypercalcemia |
ORPHA:97261 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Agitation, Ataxia |
OMIM:619046 |
Panhypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95513 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Glucagonoma |
|
Hypercalcemia |
ORPHA:97280 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Ataxia, Oral-pharyngeal dysphagia, Abnormal thalamic MRI signal intensity, Distal sensory impairm... |
ORPHA:254930 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Ataxia, Hypothalamic hamartoma |
ORPHA:2754 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Attention deficit hyperactivity disorder, Abnormal thalamus morphology, Compulsive behaviors |
ORPHA:404440 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia |
OMIM:259700 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypothalamic hamartoma |
OMIM:277170 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Meningioma |
|
Enlarged pituitary gland, Ataxia, Hypothalamic hypothyroidism, Reduced circulating prolactin conc... |
ORPHA:2495 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79444 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Adenohypophysitis |
|
Reduced circulating prolactin concentration, Adrenocorticotropic hormone deficiency, Abnormal siz... |
ORPHA:95512 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia |
ORPHA:652 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... |
ORPHA:37042 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormal thalamus morphology, Paresthesia, Cognitive impairment |
ORPHA:2959 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
Williams Syndrome |
|
Abnormal circulating lipid concentration, Hypercalcemia, Elevated circulating creatine kinase con... |
ORPHA:904 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia |
OMIM:212750 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:79443 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity, Cognitive impairment |
ORPHA:444013 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Orofaciodigital Syndrome I |
|
Agenesis of corpus callosum, Hypothalamic hamartoma, Cerebellar cyst |
OMIM:311200 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Sarcoidosis |
|
Hypercalcemia |
ORPHA:797 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Williams-Beuren Syndrome |
|
Hypercalcemia |
OMIM:194050 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology |
ORPHA:88619 |
Isotretinoin-Like Syndrome |
|
Hypocalcemia |
ORPHA:2306 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
Velocardiofacial Syndrome |
|
Hypocalcemia |
OMIM:192430 |
Pearson Syndrome |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia |
ORPHA:699 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia |
ORPHA:175 |
Microphthalmia, Syndromic 3 |
|
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Hypothalamic hamartoma |
OMIM:206900 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Sotos Syndrome |
|
Hypercalcemia |
ORPHA:821 |
Gitelman Syndrome |
|
Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Bickerstaff Brainstem Encephalitis |
|
Ataxia, Confusion, Dysesthesia, Impaired proprioception, Abnormal thalamic MRI signal intensity, ... |
ORPHA:79138 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Pallister-Hall Syndrome |
|
Panhypopituitarism, Decreased response to growth hormone stimulation test, Hypothalamic hamartoma |
OMIM:146510 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Hennekam Syndrome |
|
Hypocalcemia |
ORPHA:2136 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
Cranioectodermal Dysplasia 1 |
|
Hypocalcemia |
OMIM:218330 |
22Q11.2 Deletion Syndrome |
|
Hypocalcemia |
ORPHA:567 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Pallister-Hall Syndrome |
|
Adrenocorticotropic hormone deficiency, Gonadotropin deficiency, Pituitary hypothyroidism, Abnorm... |
ORPHA:672 |
Norrie Disease |
|
Irritability, Self-injurious behavior, Attention deficit hyperactivity disorder, Aplasia/Hypoplas... |
ORPHA:649 |
Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
Holoprosencephaly 7 |
|
Fusion of the left and right thalami, Partial agenesis of the corpus callosum, Agenesis of corpus... |
OMIM:610828 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
Hydranencephaly |
|
Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland |
ORPHA:2177 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypocalcemia, Hypomagnesemia |
OMIM:619503 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Ataxia, Decreased thalamic volume |
ORPHA:168577 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hypocalcemia |
OMIM:620330 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage |
ORPHA:464321 |
Digeorge Syndrome |
|
Hypocalcemia |
OMIM:188400 |
Charge Syndrome |
|
Hypocalcemia |
OMIM:214800 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration |
OMIM:243800 |
Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Dementia |
OMIM:272750 |