Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:203330 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... |
ORPHA:2239 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone... |
OMIM:618883 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Primary amenorrhea, He... |
OMIM:612526 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:603233 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... |
OMIM:146200 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph... |
ORPHA:94090 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypocalcemia, Hypoglycemia |
ORPHA:163693 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy |
ORPHA:100025 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop... |
ORPHA:99879 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Hypophosphatemic rickets, Elevated circulating parathyroid ho... |
OMIM:612089 |
Hyperparathyroidism 4 |
|
Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:617343 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hypocalcemia |
ORPHA:172 |
Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased proinsul... |
ORPHA:94086 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate... |
OMIM:612462 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... |
OMIM:601198 |
Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic... |
ORPHA:36913 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:606407 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... |
ORPHA:2238 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hypercalc... |
OMIM:614732 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Hypercalcemia, Anemia |
ORPHA:2668 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Glycosuria, Hypophosphatemia |
OMIM:618913 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Hypophosphatemia, Glycosuria |
OMIM:616026 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... |
ORPHA:140286 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Hypocalcemia, Elevated circulating parathyroid hormone level... |
ORPHA:79445 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parath... |
OMIM:239200 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Congeni... |
ORPHA:2323 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Elevated circulating growth hormo... |
ORPHA:562 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid... |
OMIM:614736 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Glycosuria, Hypophosphatemia |
OMIM:308990 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Kenny-Caffey Syndrome, Type 1 |
|
Congenital hypoparathyroidism, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:244460 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphos... |
OMIM:617994 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Splenomegaly, Cryptorchidism, Hypocalcemia, Hypothyroidism |
OMIM:618440 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Para... |
OMIM:145001 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elev... |
ORPHA:94089 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... |
OMIM:264700 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis, Hypoglycemia |
ORPHA:2022 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Fanconi-Bickel Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... |
ORPHA:2088 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia |
OMIM:239199 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Hypocalcemia |
ORPHA:1563 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis |
OMIM:602361 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Abnormal vagina morphology, Hypercalcemia, Anemia |
ORPHA:2123 |
Cystinosis |
|
Nephrogenic diabetes insipidus, Hypophosphatemia, Hypokalemia, Delayed puberty, Type I diabetes m... |
ORPHA:213 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin co... |
OMIM:235200 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration |
OMIM:313200 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Hypospadias, Hypoglycemia, Cryptorchidism, Hypocalcemia, Micropenis |
OMIM:607143 |
Timothy Syndrome |
|
Hypothyroidism, Hypocalcemia, Hypoglycemia |
OMIM:601005 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... |
ORPHA:64744 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Thymic Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Pituitary null cell adenoma... |
ORPHA:97289 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hypocalcemia, Anemia |
ORPHA:53 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Decreased circulating parathyroid hormone level, Increas... |
ORPHA:157215 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Fanconi Renotubular Syndrome 1 |
|
Glycosuria, Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Hepatosplenomegaly, Abnormality of the... |
ORPHA:1655 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... |
OMIM:618183 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Elevated circulating parathyroid hormone level, Secondary hyperparathyroid... |
OMIM:277440 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... |
ORPHA:289157 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increased serum bile ... |
OMIM:227810 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:175500 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Hypocalcemia... |
OMIM:235255 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79444 |
Fanconi Renotubular Syndrome 2 |
|
Glycosuria, Elevated circulating parathyroid hormone level, Hypophosphatemia |
OMIM:613388 |
Calciphylaxis |
|
Hyperphosphatemia, Secondary hyperparathyroidism |
ORPHA:280062 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H... |
OMIM:131100 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... |
ORPHA:249 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Parathyroid adenoma, Hyperparathyroidism, Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Decreased circulating parat... |
OMIM:241530 |
Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, Hyperphos... |
OMIM:103580 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc... |
ORPHA:457083 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... |
ORPHA:99880 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Elevated circulating parath... |
OMIM:307800 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit... |
ORPHA:90362 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Primary hyperparathyroidism, Abnor... |
ORPHA:143 |
X-Linked Agammaglobulinemia |
|
Thrombocytopenia, Hypocalcemia, Anemia, Neutropenia |
ORPHA:47 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... |
ORPHA:95619 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypocalcemia, Hypoketotic hypoglycemia |
ORPHA:746 |
Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Hyperthyroidism, Autoimmune thrombocytopenia, Abnormality of the end... |
ORPHA:37042 |
Pearson Syndrome |
|
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Diabetes mellitus, Pancreatic fibrosis, Decrea... |
ORPHA:699 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Thyroiditis, Iron deficiency anemia, Infertility, Hypocalcemia, Delayed pubert... |
OMIM:212750 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia, Lymphadenopathy |
ORPHA:69077 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypoglycem... |
OMIM:616113 |
Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Reactive hypoglycemia, Hypophosphatemia |
ORPHA:469 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... |
ORPHA:411634 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, P... |
ORPHA:199299 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79443 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Hypocalcemia, Aplasia/Hypoplasia of the thymus |
ORPHA:3426 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genitalia, female, Ambiguo... |
ORPHA:90791 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoplasia of penis, Hypoglycemia, Adrenal hypoplasia, Cryptorchidis... |
ORPHA:95496 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Anemia, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany, Congenital hypoparathyroid... |
ORPHA:93325 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... |
OMIM:262190 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Hypocalcemia |
OMIM:192430 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... |
OMIM:259720 |
Cystinosis, Nephropathic |
|
Male infertility, Hyponatremia, Diabetes mellitus, Splenomegaly, Hypomagnesemia, Reduced blood ur... |
OMIM:219800 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Glycosuria, Hypokalemia, Decreased ... |
ORPHA:3337 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Hypomagnesemia, Insulin resistance, Hypermagnesemia,... |
ORPHA:358 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency |
OMIM:240200 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Hypophosphatasia |
|
Hypercalcemia, Anemia |
ORPHA:436 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Hypothyroidism, Increased circula... |
ORPHA:465508 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hypoglycemia, Hyperuricemia |
OMIM:261750 |
Dent Disease 1 |
|
Glycosuria, Hypophosphatemia |
OMIM:300009 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decr... |
ORPHA:453533 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Absent gallbladder, Hypospadias, Cryptorchidism, Anemia, Hypocalcemia, Hyperbilirubinemia, Microp... |
ORPHA:163979 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
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Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Hypoglycemia |
OMIM:201910 |
Kallmann Syndrome With Spastic Paraplegia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Infantile Nephropathic Cystinosis |
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Abnormality of thyroid physiology, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemi... |
ORPHA:411629 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, H... |
ORPHA:90790 |
Pituitary Hormone Deficiency, Combined, 6 |
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Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Craniofacioskeletal Syndrome |
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Absent gallbladder, Hypospadias, Hypocalcemia, Cryptorchidism |
OMIM:300712 |
Small Cell Carcinoma Of The Bladder |
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Hypercalcemia |
ORPHA:284400 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Hypercalcemia, Infantile, 1 |
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Hypercalcemia, Decreased circulating parathyroid hormone level |
OMIM:143880 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Bacterial Toxic-Shock Syndrome |
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Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:36234 |
Galactokinase Deficiency |
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Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, ... |
ORPHA:79237 |
Autosomal Dominant Hypocalcemia |
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Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Mirage Syndrome |
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Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Hypoglycemia, Cryp... |
OMIM:617053 |
Glycogen Storage Disease Ixc |
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Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Fasting hypoglycemia |
OMIM:613027 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
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Pheochromocytoma, Hypercalcemia |
OMIM:171420 |
Hemochromatosis, Neonatal |
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Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... |
OMIM:231100 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Hypocalcemia |
OMIM:618476 |
Acute Adrenal Insufficiency |
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Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Decreased female libido, H... |
ORPHA:95409 |
Fructose Intolerance, Hereditary |
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Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Hyperuricemia, Hyperbilirubinemia, Glycosuria |
OMIM:229600 |
Familial Hypocalciuric Hypercalcemia |
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Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Infantile Myofibromatosis |
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Neoplasm of the pancreas, Hypercalcemia |
ORPHA:2591 |
Congenital Isolated Acth Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hypoglycemi... |
ORPHA:199296 |
Zollinger-Ellison Syndrome |
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Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Bone Marrow Failure Syndrome 5 |
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Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia |
OMIM:618165 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hyperparathyroidism, Hypoammonemia, Cryptorchidism, Thrombocytopenia, Hypophosphate... |
ORPHA:534 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym... |
ORPHA:83471 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Irregular menstru... |
OMIM:101800 |
Autosomal Recessive Malignant Osteopetrosis |
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Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Anemia |
ORPHA:667 |
Reni Syndrome |
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Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Adrenal insufficiency, Hypogonadism, Hypoalbu... |
OMIM:617575 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Pancytopenia, Small scrotum, Hypoglycemia, Bile duct proliferation, Hypocalcemia, Hypoalbuminemia... |
OMIM:613658 |
Opsismodysplasia |
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Hypophosphatemia |
OMIM:258480 |
Wolfram Syndrome 1 |
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Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... |
OMIM:222300 |
Non-Functioning Paraganglioma |
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Paraganglioma of head and neck, Hypercalcemia, Paraganglioma |
ORPHA:94080 |
Alport Syndrome 3A, Autosomal Dominant |
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Azotemia, Hypophosphatemia |
OMIM:104200 |
Osteopetrosis With Renal Tubular Acidosis |
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Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Leukopenia, E... |
ORPHA:2785 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Infection-Related Hemolytic Uremic Syndrome |
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Hyponatremia, Hemolytic anemia, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hypocalcemia, Thro... |
ORPHA:544482 |
Solitary Fibrous Tumor |
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Hypoglycemia, Vaginal neoplasm, Reduced C-peptide level, Recurrent hypoglycemia, Prostate cancer,... |
ORPHA:2126 |
Generalized Glucocorticoid Resistance Syndrome |
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Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Vipoma |
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Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Isotretinoin-Like Syndrome |
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Lymphopenia, Hypocalcemia |
ORPHA:2306 |
Hypophosphatasia, Infantile |
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Elevated plasma pyrophosphate, Hypercalcemia, Anemia |
OMIM:241500 |
Liver Disease, Severe Congenital |
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Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Biliary hyperpla... |
OMIM:619991 |
Somatostatinoma |
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Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... |
ORPHA:97283 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Hyperthyroidism, Hypospadias, Cryptorchidism, Splenomegaly, Hypoplasia of the... |
ORPHA:567 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy |
OMIM:601163 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
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Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Myotonic Dystrophy 1 |
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Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Ppoma |
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Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Abnor... |
ORPHA:97278 |
Raine Syndrome |
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Hypophosphatemia |
OMIM:259775 |
Orthostatic Hypotension 2 |
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Hypoglycemia, Anemia |
OMIM:618182 |
Ethylene Glycol Poisoning |
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Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Digeorge Syndrome |
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Parathyroid agenesis, Decreased circulating parathyroid hormone level, Thrombocytopenia, Splenome... |
OMIM:188400 |
Cartilage-Hair Hypoplasia |
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Hypocalcemia, Anemia, Neutropenia |
ORPHA:175 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Delayed puberty |
ORPHA:251004 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Hennekam Syndrome |
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Splenomegaly, Lymphopenia, Hypocalcemia, Lymphadenopathy |
ORPHA:2136 |
Monosomy 13Q34 |
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Insulin resistance, Metrorrhagia, Hypercalcemia |
ORPHA:96168 |
Exercise-Induced Malignant Hyperthermia |
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Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Glucose-Galactose Malabsorption |
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Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Glucagonoma |
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Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... |
ORPHA:97280 |
Dent Disease |
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Renal hypophosphatemia, Elevated circulating creatine kinase concentration, Glycosuria |
ORPHA:1652 |
Grfoma |
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Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Neopl... |
ORPHA:97261 |
Pituitary Apoplexy |
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Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Autosomal Recessive Hypophosphatemic Rickets |
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Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... |
ORPHA:276621 |
Testicular Agenesis |
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Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Multiple Endocrine Neoplasia Type 1 |
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Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Aarskog-Scott Syndrome |
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Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Multiple Myeloma |
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Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... |
ORPHA:29073 |
Pheochromocytoma |
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Pheochromocytoma, Hypercalcemia |
OMIM:171300 |
Proteus-Like Syndrome |
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Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
Johanson-Blizzard Syndrome |
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Diabetes mellitus, Hypospadias, Septate vagina, Urethrovaginal fistula, Conjugated hyperbilirubin... |
OMIM:243800 |
Charge Syndrome |
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Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:214800 |
Bartter Syndrome, Type 1, Antenatal |
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Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... |
OMIM:601678 |
Multiple Endocrine Neoplasia Type 2 |
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Paraganglioma of head and neck, Cervical neoplasm, Hypercalcemia, Thyroid C cell hyperplasia, Cer... |
ORPHA:653 |
Malignant Hyperthermia Of Anesthesia |
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Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hemolytic anemia, Decreased response to growth hormone stimulation test, Cryptorchidism, Hepatosp... |
OMIM:619503 |
Hereditary Pheochromocytoma-Paraganglioma |
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Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... |
ORPHA:29072 |
X-Linked Hypophosphatemia |
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Hypophosphatemia |
ORPHA:89936 |
Lesch-Nyhan Syndrome |
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Testicular atrophy, Hyperuricemia, Megaloblastic anemia |
OMIM:300322 |
Paget Disease Of Bone 2, Early-Onset |
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Hypercalcemia |
OMIM:602080 |
Cranioectodermal Dysplasia 1 |
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Hypocalcemia |
OMIM:218330 |
Non-Acquired Panhypopituitarism |
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Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Hypercalcemia |
ORPHA:476126 |
Hemorrhagic Fever-Renal Syndrome |
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Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... |
ORPHA:340 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Small scrotum, Hypocalcemia |
OMIM:620330 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia |
OMIM:619036 |
Sarcoidosis |
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Hemolytic anemia, Hyperthyroidism, Parotitis, Eosinophilia, Diabetes insipidus, Hypercalcemia, Ab... |
ORPHA:797 |
Steinert Myotonic Dystrophy |
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Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Osteopetrosis, Autosomal Recessive 7 |
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Splenomegaly, Hypocalcemic seizures, Anemia |
OMIM:612301 |
X-Linked Intellectual Disability, Snyder Type |
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Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias |
ORPHA:3063 |
Williams Syndrome |
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Hypoplasia of penis, Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circulating creatine ... |
ORPHA:904 |
Sotos Syndrome |
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Hypospadias, Hypercalcemia, Phimosis, Cryptorchidism, Decreased fertility, Acute lymphoblastic le... |
ORPHA:821 |
Proteus Syndrome |
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Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Neoplasm of t... |
ORPHA:744 |
Williams-Beuren Syndrome |
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Diabetes mellitus, Hypercalcemia, Early onset of sexual maturation, Glucose intolerance, Micropen... |
OMIM:194050 |