| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Irritabili... |
OMIM:146200 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased proinsul... |
ORPHA:94086 |
| Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Increased bone mineral density, Confusion, Autoimmune hypoparathyroidism... |
ORPHA:36913 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... |
OMIM:601198 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudohypoparathyro... |
OMIM:612462 |
| Pseudohypoparathyroidism, Type Ia |
|
Osteoporosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormo... |
OMIM:103580 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagn... |
ORPHA:2239 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... |
OMIM:618883 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... |
OMIM:203330 |
| Calciphylaxis |
|
Stage 5 chronic kidney disease, Hyperphosphatemia, Secondary hyperparathyroidism, Cellulitis, Ect... |
ORPHA:280062 |
| Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypo... |
OMIM:603233 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Decreased response to growth hormone stimulation test... |
ORPHA:94089 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... |
OMIM:300555 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
| Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Hyperphosphatemia, Elevated circulating parathyroid hormone ... |
ORPHA:79445 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone... |
ORPHA:94090 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Hepatomegaly, Osteopenia, Hypocholesterolemia |
OMIM:610539 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Abnormal dental enamel morphology, Patchy osteosclerosis... |
ORPHA:2323 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par... |
OMIM:617994 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... |
ORPHA:79444 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
| Kennedy Disease |
|
Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Abnormal ... |
ORPHA:481 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H... |
ORPHA:99879 |
| Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Increased LDL cholesterol concent... |
OMIM:610947 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Oligozoospermi... |
OMIM:615703 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Osteopenia, Increased bone mineral density, Macular scar... |
OMIM:239000 |
| Squalene Synthase Deficiency |
|
Hypospadias, Increased circulating farnesol concentration, Bilateral cryptorchidism, Elbow flexio... |
OMIM:618156 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... |
OMIM:612526 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Osteomalacia, Bone cyst, Nephrolithiasis, Osteolysis, Abnormal adipose tissu... |
ORPHA:93160 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Cryptorchidism, Elevated circulating thyroid-stimulating hormone conce... |
OMIM:101800 |
| Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Abnormality of tumor nec... |
ORPHA:158061 |
| Autosomal Dominant Hypocalcemia |
|
Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Depression, Hyperphosphatemia, Hy... |
ORPHA:428 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypertriglyceridemia, Impaired gl... |
ORPHA:2088 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Waddling gait, Hyperphosphaturia, Osteomalacia, Decrease... |
ORPHA:157215 |
| Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Rickets, Hypophosphatemia, Rena... |
ORPHA:213 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Renal insufficiency, Proteinuria, Osteomalacia, Rickets, Hypercalciuria, Generalized ... |
OMIM:613388 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... |
OMIM:246700 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Ataxia, Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea... |
OMIM:266510 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Osteomalacia, Delayed epiphyseal ossification, Chronic ki... |
OMIM:300009 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, Hypoglycemia, Proteinuria, Rick... |
OMIM:616026 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulati... |
OMIM:235200 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... |
ORPHA:94093 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... |
OMIM:134600 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Osteomalacia, Delayed epiphyseal ossification, Chronic kidney disease, Ricke... |
OMIM:300554 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ata... |
ORPHA:96180 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Decreased LDL cholesterol ... |
OMIM:615558 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Abnormal circulating follicle-stimulating hormone concentration, Cortical thickening of long bone... |
ORPHA:93325 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Abnormality of tumor nec... |
ORPHA:540 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Decreased circulating parathyroid hormone level, Abnormal circulating ca... |
OMIM:241530 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
| Mccune-Albright Syndrome |
|
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Renal phosphate wasting,... |
ORPHA:562 |
| Spinocerebellar Ataxia 32 |
|
Ataxia, Azoospermia, Infertility, Cognitive impairment, Testicular atrophy |
OMIM:613909 |
| H Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Abnormality of the kidney, Osteolysis, En... |
ORPHA:168569 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Progressive cerebellar ataxia, Cognitive impairment, Testicular at... |
ORPHA:276183 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, Irritabili... |
OMIM:264700 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Renal phosphate wasting, Hypophosph... |
OMIM:612287 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hydrocele testis, Hypocholesterolemia, Neonatal death, Micropenis |
OMIM:618810 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Hypercalciuria, Nephrolithiasis, Renal phosphate was... |
OMIM:612286 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Pr... |
OMIM:227810 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia... |
OMIM:127000 |
| Fibrous Dysplasia Of Bone |
|
Thyroid carcinoma, Patchy reduction of bone mineral density, Cortical irregularity, Hyperthyroidi... |
ORPHA:249 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Delayed puberty, Decreased LDL cholesterol concentration... |
OMIM:616834 |
| Dent Disease |
|
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin... |
ORPHA:1652 |
| Linear Verrucous Nevus Syndrome |
|
Reduced bone mineral density, Mental deterioration, Abnormality of the kidney, Hypophosphatemia |
ORPHA:2611 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex... |
OMIM:608836 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoacidur... |
ORPHA:289157 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Xanthelas... |
OMIM:232200 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
| Immunodeficiency 19 |
|
T lymphocytopenia, Chronic diarrhea, Abnormal B cell morphology, Abnormal natural killer cell mor... |
OMIM:615617 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Ataxia... |
OMIM:212065 |
| Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemia, Oliguria, Hy... |
ORPHA:466650 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki... |
ORPHA:423 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Hypophosphatemia, Irritability, Spars... |
OMIM:277440 |
| Potocki-Lupski Syndrome |
|
Abnormal renal morphology, Hypothyroidism, Hypocholesterolemia |
OMIM:610883 |
| Immunodeficiency 104 |
|
Splenomegaly, Diarrhea, Gastroesophageal reflux, T lymphocytopenia |
OMIM:608971 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperca... |
ORPHA:251004 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Confusion, Chronic kidney disease, Hyperkalemia, Elevate... |
ORPHA:340 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Proteinuria, Splenomegaly, Hyperlipidemia, Osteo... |
OMIM:232220 |
| Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia |
OMIM:607765 |
| Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, True hermaphroditism, Nephrobla... |
OMIM:194080 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Waddling gait, Hip contracture, Hyperphosphaturia, Osteopenia, Hypercalcemia,... |
OMIM:156400 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Difficulty walkin... |
OMIM:600081 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Chronic diarrhea, Agammaglobulinemia,... |
OMIM:300400 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
| Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Perianal abscess, Diarrhea, Decreased circulating antibody level, T lymphocytopenia, I... |
OMIM:618108 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto... |
ORPHA:99880 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Diarrhea, T lym... |
OMIM:619313 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Hypothyroidism, Tubulointerstitial fibrosis,... |
ORPHA:79259 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto... |
ORPHA:143 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Cardiomegaly,... |
ORPHA:465508 |
| Meckel Syndrome, Type 8 |
|
Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... |
ORPHA:730 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Enamel hypomineralization, Rickets, Ren... |
OMIM:307800 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Rickets, Renal phosphate wasting, El... |
OMIM:612089 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Inguinal hernia, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Chronic diarrhea, T lymphocytopenia, Decreased circulating total... |
OMIM:619510 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
| Cystinosis, Nephropathic |
|
Progressive neurologic deterioration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight... |
OMIM:219800 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Alg12-Cdg |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, Abnormal... |
ORPHA:79324 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi... |
OMIM:619743 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, ... |
ORPHA:411629 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Broad-based gait, Hepatomegaly, Ataxia, Card... |
ORPHA:14 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
| Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Osteomalacia, Increased urinary pot... |
ORPHA:3337 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Overgrowth of external genit... |
ORPHA:508 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Glucose intolerance, Osteoporosis, Depression, Increased circulating cortisol level, Hyperaldoste... |
ORPHA:189427 |
| Adult Acute Respiratory Distress Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Inguinal hernia, Nephrogenic rest, Absent in utero ossification o... |
OMIM:608022 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Inability to walk, Splenomegaly, Flexion contracture, Nephrotic syndro... |
OMIM:617303 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... |
ORPHA:411634 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Diarrhea, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Un... |
OMIM:308750 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... |
ORPHA:178320 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Diarrhea, Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
ORPHA:277 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... |
OMIM:263200 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fet... |
OMIM:276700 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper... |
OMIM:239200 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
| Oncogenic Osteomalacia |
|
Hyperphosphaturia, Fibrous dysplasia of the bones, Renal phosphate wasting, Gait disturbance, Hyp... |
ORPHA:352540 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Chronic kidney disease, Hypermagnesemia... |
ORPHA:469 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Abnormal... |
ORPHA:3243 |
| Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... |
ORPHA:534 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomeg... |
OMIM:130650 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Diabetes mellitus, Ataxia, Diabetes insipidus, Hydroureter, Hypothyroidism, H... |
OMIM:222300 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Decreased skull ossification, Testicular atrophy, Congenital diaphragmatic hernia |
OMIM:601163 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Impaired neutrophil chemotaxis, Partial absence of... |
OMIM:618986 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Hydrocele testis, Multiple lipomas, Nephroblastoma, Ovarian serous cystadenoma, Enla... |
ORPHA:276280 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Vesicoureteral reflux, Nephr... |
ORPHA:116 |
| Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ... |
ORPHA:31824 |
| Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnorm... |
OMIM:137920 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Hyperparathyroidism, Inguinal hernia, Unilateral renal agenesis, Ovarian cyst, Subper... |
OMIM:618188 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Penos... |
OMIM:270400 |
| Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Renal insufficiency, Diabetes mellitus, Pancreatic fibrosis, De... |
ORPHA:699 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of renal excretion, Renal hyp... |
ORPHA:289176 |
| Dubowitz Syndrome |
|
Short attention span, Inguinal hernia, Hypospadias, Cryptorchidism, Hypocholesterolemia |
OMIM:223370 |
| Fructose Intolerance, Hereditary |
|
Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal ... |
OMIM:229600 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Inability to walk, Flexion contracture, Hepatosp... |
ORPHA:505248 |
| Alg9-Cdg |
|
Omphalocele, Hepatomegaly, Hypoplasia of the bladder, Lipodystrophy, Ureteral hypoplasia, Irritab... |
ORPHA:79328 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Pancreatic cysts, Splenomegaly, Ureteral ... |
OMIM:208540 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, D... |
ORPHA:572 |
| Raine Syndrome |
|
Increased bone mineral density, Hydroureter, Subperiosteal bone formation, Hypophosphatemia, Neon... |
OMIM:259775 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Craniosynostosis,... |
OMIM:252500 |
| Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig... |
OMIM:612651 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Stillbirth, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
| X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Rickets, Enthesitis, Renal phospha... |
ORPHA:89936 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
| Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Choreoathetosis, Nephrocalcinosis, Hyperuricemia, Testicular at... |
OMIM:300322 |
| Kaposiform Lymphangiomatosis |
|
Metrorrhagia, Pancreatic cysts, Splenomegaly, Osteolysis, Hepatosplenomegaly, Multiple renal cyst... |
ORPHA:464329 |
| Meacham Syndrome |
|
Aplasia of the right hemidiaphragm, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney,... |
OMIM:608978 |
| Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Cystic renal dysplasia, Enlarge... |
OMIM:200995 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, Di... |
ORPHA:79124 |
| Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Biliary hyperplasia, Pancr... |
ORPHA:731 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Inguinal hernia, Maternal diabetes, Cardiomegaly, Cryptorchidism, Hydr... |
OMIM:300855 |
| Kaufman Oculocerebrofacial Syndrome |
|
Hypoplastic labia majora, Clitoral hypertrophy, Hypocholesterolemia |
OMIM:244450 |
| Aarskog-Scott Syndrome |
|
Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto... |
OMIM:305400 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... |
OMIM:600802 |
| Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
| Tangier Disease |
|
Left ventricular hypertrophy, Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
| Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Diarrhea, T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, ... |
OMIM:242860 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Abnormal natural killer cell... |
OMIM:615966 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Chronic diarrhea, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T ... |
OMIM:242700 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Abnormality of connective tissue, Enlarged kidney |
ORPHA:79128 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Non-medullary thyroid carcinoma, Male hypo... |
ORPHA:273 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Immunodeficiency 40 |
|
Chronic diarrhea, Eosinophilic granuloma, T lymphocytopenia, Intermittent diarrhea, Focal active ... |
OMIM:616433 |
| Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto... |
OMIM:615873 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic diarrhea, Chro... |
OMIM:615607 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Hypocalcemia, Osteope... |
ORPHA:667 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorchidism, Enlarg... |
OMIM:618280 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Inability to walk, Unsteady gait, Osteoporosis, Abno... |
ORPHA:3063 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Acute colitis, Increased circulating interleukin 6 concentration... |
ORPHA:544482 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Inguinal hernia, Multicystic kidney dysplasia, Camptodactyly, Nephroblastoma, ... |
ORPHA:500095 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Neonatal hypoglycemia, Cardiomegaly |
OMIM:261740 |
| Agammaglobulinemia, X-Linked |
|
Chronic diarrhea, Agammaglobulinemia, T lymphocytopenia, Decreased circulating total IgM, B lymph... |
OMIM:300755 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Chronic diarrhea, Acute lympho... |
OMIM:208900 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Inguinal hernia, Hypospadias, Supernumerary nipple, Congenital diaphragmatic hernia... |
OMIM:312870 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney |
OMIM:306955 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Diarrhea, Neutropenia in presence of an... |
ORPHA:391487 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... |
ORPHA:508533 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Episodic vomiting, Gastroesophageal reflux, Microcytic anemia |
ORPHA:2959 |
| Vici Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Dysphagia, Leukopenia, T lymph... |
OMIM:242840 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Gastritis, Splenomegaly, Diarrhea, Decreased circulating t... |
OMIM:619381 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Diarrhea, T lymphocytopenia, Coombs... |
ORPHA:83471 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Dysgammaglobulinemia, Diarrhea, T lymphocytopenia, B lymphocytopenia... |
OMIM:251260 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia |
OMIM:607944 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus |
OMIM:618223 |
