Renal Glucosuria |
|
Polydipsia, Polyuria, Glycosuria, Polyphagia, Enuresis nocturna |
OMIM:233100 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyuria, Polyphagia, Diabetes mellitus, Hyperglycemia |
OMIM:222100 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Osteopenia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insuff... |
OMIM:613388 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... |
OMIM:308990 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Aminoaciduria, Glycosuria, Hypoglycemia, Large for gestational age, Proteinuria... |
OMIM:616026 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Infantile hypercalcemia, Parathyroid adenoma, Elevated circulating parathyroid ... |
ORPHA:99879 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Renal tubular acidosis, Osteopen... |
ORPHA:2088 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... |
OMIM:615605 |
Dent Disease 1 |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Delayed epiph... |
OMIM:300009 |
Fanconi-Bickel Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Reduced subcutaneous adipose tissue, Hypophosphatem... |
OMIM:227810 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Hypercalciu... |
OMIM:612286 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Increased s... |
OMIM:612287 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Osteomalacia... |
OMIM:134600 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Nephrolithiasis, Decreased circulating parathyroid hormone level, Hypophosphatemic rickets, Hypop... |
ORPHA:157215 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium... |
OMIM:613090 |
Senior-Loken Syndrome 4 |
|
Polyuria, Polydipsia, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:606996 |
Familial Renal Glucosuria |
|
Renal tubular dysfunction, Recurrent urinary tract infections, Nephropathy, Glycosuria |
ORPHA:69076 |
Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transaminase, Tubulointerstitial nephri... |
OMIM:614817 |
Dent Disease |
|
Renal hypophosphatemia, Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Proteinuria, Pr... |
ORPHA:1652 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Polyuria, Periglomerular fibrosis, Renal insufficiency, Tubular luminal dilatation, S... |
OMIM:619468 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, ... |
OMIM:602522 |
Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Renal tubular aci... |
OMIM:248250 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Precocious puberty, Congenital hypothyroidism, Hypoglycemia, Hyponatremia, Hyp... |
OMIM:614736 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting, Renal hypophosphatemia |
OMIM:241519 |
Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Failure to thrive, Polydipsia, Hypokalemia, Aminoaciduria, Decreased glomerular ... |
ORPHA:18 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... |
OMIM:618913 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... |
OMIM:616963 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Ketonuria, Hyperlipidemia, Ketotic hypoglycemia, G... |
ORPHA:2089 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal juxtaglomerular cell hypertro... |
OMIM:601678 |
Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Nephrogenic diabetes insipidus, Polydipsia, Hydroureter, Hyposthenuria, Hypern... |
ORPHA:223 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Ab... |
ORPHA:552 |
Primary Fanconi Renotubular Syndrome |
|
Hyperuricosuria, Glycosuria, Renal sodium wasting, Weight loss, Stage 5 chronic kidney disease, H... |
ORPHA:3337 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... |
ORPHA:263455 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Rickets |
OMIM:193100 |
Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Nephrogenic diabetes insipidus, Hypophosphatemia, H... |
ORPHA:213 |
Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Polydipsia, Hypophosphatemia, Hypokalemia, Aminoaci... |
ORPHA:411629 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassium, Polyuria, Hypocal... |
OMIM:607364 |
Hyperparathyroidism, Neonatal Severe |
|
Failure to thrive, Recurrent fractures, Hypophosphatemia, Polydipsia, Aminoaciduria, Elevated cir... |
OMIM:239200 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia, Osteomalacia, Hyperphosphaturia, Rickets |
ORPHA:89937 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... |
OMIM:300555 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Recurrent urinary... |
OMIM:248190 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Polydipsia, Renal juxtaglomerular c... |
OMIM:241200 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
Nephronophthisis 1 |
|
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial ... |
OMIM:256100 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Central diabetes insipidus, Polyuria, Hydronephrosis, Polydipsia |
OMIM:304900 |
Glucose/Galactose Malabsorption |
|
Abnormal oral glucose tolerance, Failure to thrive, Glycosuria |
OMIM:606824 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Cataract 47 |
|
Glycosuria |
OMIM:612018 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Polydipsia, Salt craving, Increased circulating renin level, Renal m... |
ORPHA:199343 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating renin level, Hyp... |
OMIM:613677 |
Nephronophthisis 4 |
|
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... |
OMIM:606966 |
Familial Hypocalciuric Hypercalcemia |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Lipoma, R... |
ORPHA:405 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Nephrogenic diabetes insipidus, Polydipsia, Polyuria, Hypernatremia, Megacystis |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Polydipsia, Polyuria, Hypernatremia, Megacystis, Diabetes insipidus |
OMIM:304800 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... |
ORPHA:564178 |
Nephronophthisis 3 |
|
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal... |
OMIM:604387 |
Glucose-Galactose Malabsorption |
|
Nephrolithiasis, Failure to thrive, Hematuria, Hypernatremia, Renal insufficiency, Hypercalcemia,... |
ORPHA:35710 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubu... |
ORPHA:411634 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Failure to thrive, Nephrogenic diabetes insipidus, Renal tubular acidosis, Aminoaciduria, Nephrop... |
OMIM:613404 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia |
OMIM:613312 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemic rickets, Hypop... |
OMIM:300554 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Failure to thrive, Polydipsia, Hypokalemia, Aminoaciduria, Reduced bone mineral ... |
ORPHA:47159 |
Cystinosis, Nephropathic |
|
Polydipsia, Glycosuria, Hematuria, Proteinuria, Weight loss, Failure to thrive in infancy, Stage ... |
OMIM:219800 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Hypophosphatemia, Osteopenia, Hypercalciuria, Pathologic fra... |
OMIM:156400 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff... |
OMIM:162000 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, F... |
OMIM:241530 |
Hypophosphatemic Rickets |
|
Elevated circulating parathyroid hormone level, Hypocalciuria, Enthesitis, Renal phosphate wastin... |
ORPHA:437 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Increased body weight, Elevated circulating thyroid-stimu... |
ORPHA:94086 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting |
OMIM:618314 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Chronic kidney disease, Hypomagnesemia, Polyuria, Hyperechogenic kidneys, Prot... |
OMIM:613845 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Increased circulating 18-hydroxycorti... |
OMIM:610600 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... |
ORPHA:324575 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Reduced bone mineral density, Hypercalciuria, Hypermagnesiuria, Hyp... |
ORPHA:428 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Elevated circulating parathy... |
OMIM:612089 |
Senior-Loken Syndrome 3 |
|
Polydipsia, Nephronophthisis, Polyuria, Renal corticomedullary cysts, Enuresis, Stage 5 chronic k... |
OMIM:606995 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia, Chondrocalcinosis, Hypocalciuria, Renal insufficiency, Renal magnesi... |
OMIM:154020 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hypophosphatemia, Fibrous dysplasia of the bones, Hypocalcemia, Patholog... |
ORPHA:352540 |
Lcat Deficiency |
|
Decreased glomerular filtration rate, Hypertriglyceridemia, Renal insufficiency, Proteinuria, Acu... |
ORPHA:650 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess |
OMIM:613148 |
Teratoma, Pineal |
|
Polyuria, Polydipsia |
OMIM:273120 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Polydipsia, Nephronophthisis, Polyuria, Tubulointerstitial ... |
OMIM:266900 |
Renal Hypoplasia |
|
Chronic kidney disease, Polydipsia, Abnormal renal tubule morphology, Unilateral renal agenesis, ... |
ORPHA:93101 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Failure to thrive, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, ... |
ORPHA:436271 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, A... |
OMIM:307800 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Inflammation of the large intestine, Hematochezia, Weight loss |
OMIM:191390 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Rickets of the lower limbs, Hypophosphatemic rickets, Abnormality of ren... |
ORPHA:289176 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight |
OMIM:613375 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Colitis |
ORPHA:88643 |
Immunodeficiency 61 |
|
Malabsorption, Frequent Giardia lamblia infestation, Arthritis, Recurrent sinusitis, Colon cancer... |
OMIM:300310 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Mccune-Albright Syndrome |
|
Renal phosphate wasting, Renal tubular dysfunction, Monostotic fibrous dysplasia, Hypophosphatemi... |
ORPHA:562 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Decreased glomerular filtration rate, Abnormal renal physiology, Abnormal... |
ORPHA:94088 |
Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Increased circulating renin level, Hy... |
OMIM:203400 |
Fructose Intolerance, Hereditary |
|
Failure to thrive, Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Hyperuricosuria... |
OMIM:229600 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Secondary hyperparathyroidism, Failure to thrive, Delayed epiphyseal ossification, Hypophosphatem... |
OMIM:264700 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Central Diabetes Insipidus |
|
Failure to thrive, Polydipsia, Nocturia, Hyponatremia, Weight loss, Diabetes insipidus |
ORPHA:178029 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudo... |
OMIM:264350 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, Failure to thrive, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, ... |
OMIM:220110 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... |
OMIM:600740 |
Gitelman Syndrome |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Polydipsia, Chondrocalcinosis, Polyuria, Hypocalc... |
OMIM:263800 |
Macrosomia With Microphthalmia, Lethal |
|
Large for gestational age, Median cleft palate |
OMIM:248110 |
Prader-Willi syndrome (Type 1) |
|
Feeding difficulties in infancy, Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Feeding difficulties in infancy, Truncal obesity |
DECIPHER:53 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Hyperinsulinemia, Hypoglycemia, Generalized aminoac... |
OMIM:606528 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Pollakisuria, Diabetes insipidus |
ORPHA:95626 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Recurrent fractures, Hypophosphatemic rickets, Precocious puberty, Osteopenia, Horseshoe kidney, ... |
OMIM:163200 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypercal... |
ORPHA:73224 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Polydipsia, Polyuria, Hypocalciuria, Salt craving, Increased circulating renin level, Hyperaldost... |
OMIM:612780 |
Myasthenia Gravis |
|
Systemic lupus erythematosus, Hyperthyroidism, Anti-muscle-specific tyrosine kinase antibody, Rhe... |
ORPHA:589 |
Isolated Osteopoikilosis |
|
Joint stiffness, Abnormality of the endocrine system, Abnormal bone ossification, Sclerosis of fo... |
ORPHA:166119 |
Wilson Disease |
|
Glycosuria, Proteinuria, Hypouricemia, Renal tubular dysfunction, Nephrolithiasis, Hypoparathyroi... |
OMIM:277900 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Obesity, Pseudoh... |
OMIM:603233 |
Ochoa Syndrome |
|
Polydipsia, Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obs... |
ORPHA:2704 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... |
ORPHA:556037 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Hyperlysinemia, Lacticaciduria, Hyperammonemia, Increased serum pyruvate, Hype... |
ORPHA:3008 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Abnormal intestine morphology, D... |
ORPHA:70482 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Decreased glomerular filtration rate |
OMIM:618182 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:361 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Hypernatremia, Hydronephrosis, Pituitary h... |
OMIM:615926 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Renal cortical cysts, Glycosuria, Elevated circulating glutaric acid concentration, Hypoglycemia,... |
OMIM:231680 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Recurrent fractures, Hypophosphatemia, Bone cyst, Hypocalcemia, Abnormal adipose... |
ORPHA:93160 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276580 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Decreased response to growth hormon... |
OMIM:606407 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Polyphagia, Cystinuria |
ORPHA:163690 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... |
OMIM:612567 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Incr... |
ORPHA:556030 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Polyuria, Hypercalciuria, Increased circulating renin level, Hyponatremia, Medullary... |
OMIM:300971 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Enterocolitis |
|
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia |
OMIM:226150 |
Leptin Deficiency Or Dysfunction |
|
Micropenis, Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hypogonadism |
OMIM:614962 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Abnormal enzyme/coenzyme activity, Macroscopic ... |
ORPHA:976 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Constipation, Abdominal distention, Enterocolitis, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Crohn's disease, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... |
OMIM:615767 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Secondary hyperparathyroidism, Failure to thrive, Delayed epiphyseal ossification, Hypophosphatem... |
ORPHA:289157 |
Nephronophthisis 11 |
|
Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Tubular basement membrane disinteg... |
OMIM:613550 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Recurrent fractures, Glycosuria, Renal Fanconi syndrome, Stage 5 chronic kidney disease, Rickets |
OMIM:268315 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney disease |
OMIM:618061 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Hereditary Coproporphyria |
|
Dark urine, Increased urinary porphobilinogen, Nephropathy, Elevated urinary delta-aminolevulinic... |
ORPHA:79273 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276575 |
Addison Disease |
|
Thymoma, Decreased circulating cortisol level, Increased circulating renin level, Androgen insuff... |
ORPHA:85138 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Osteopenia, Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Decreased circulating cortisol level,... |
ORPHA:95409 |
Adenocarcinoma Of The Esophagus |
|
Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Feeding difficulties in infancy... |
ORPHA:99976 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Asymptomatic hy... |
ORPHA:35878 |
Oligomeganephronia |
|
Polydipsia, Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesi... |
ORPHA:2260 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Myoglobinuria, Elevated circulating creatine kinase concentration, ... |
ORPHA:94093 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
OMIM:300200 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Decreased serum creatinine, Hyponatremia, Decreased circulating renin level |
OMIM:300539 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... |
ORPHA:276556 |
Saccharopinuria |
|
Elevated circulating sacchoropine concentration, Histidinuria, Citrullinuria, Hyperlysinuria, Sac... |
OMIM:268700 |
Bartter Syndrome Type 4 |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Chronic kidney disease, Impaired re... |
ORPHA:89938 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Failure to thrive, 3-Methylglutaconic aciduria |
ORPHA:67046 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Decreased circulating parathyroid hormone level, Decreased glomerular filtration... |
OMIM:601198 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... |
OMIM:241520 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Decreased response to growth ... |
ORPHA:94089 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Increased serum testosterone level, D... |
ORPHA:90791 |
Parathyroid Carcinoma |
|
Polydipsia, Elevated circulating parathyroid hormone level, Weight loss, Nephrolithiasis, Lipoma,... |
ORPHA:143 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Osteoporosis, Enamel hypoplasia, Hypothyroidism, ... |
OMIM:612462 |
Hyper-Beta-Alaninemia |
|
Hyperbeta-alaninemia, Failure to thrive, Increased urinary taurine |
OMIM:237400 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hyperammonemia, Hypoglycemia, Organic aciduria, Failu... |
ORPHA:6 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Failure to thrive, Recurrent fractures, Increased bone mineral density, Macula... |
OMIM:239000 |
Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Glucose intolerance, Unilateral renal agenesis, Maturity-onset diabetes of the y... |
OMIM:137920 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Renal tubular dysfunction, Failure to thrive, Ketonuria, Lower-limb joint contracture, Abnormalit... |
ORPHA:99885 |
Hyperprolinemia Type 1 |
|
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria |
ORPHA:419 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia, Hyperinsulinemia, Increased bone mineral density |
OMIM:618406 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... |
ORPHA:171706 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Urinary bladder sphincter dysfunction |
OMIM:615625 |
Insulin Autoimmune Syndrome |
|
Systemic lupus erythematosus, Hyperinsulinemic hypoglycemia, Insulin resistance, Autoimmune antib... |
ORPHA:411593 |
Linear Verrucous Nevus Syndrome |
|
Abnormality of the kidney, Hypophosphatemia, Reduced bone mineral density |
ORPHA:2611 |
Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Osteoporosis, Enamel hypoplasia, Hypothyroidism, ... |
OMIM:103580 |
Seckel Syndrome 10 |
|
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Gly... |
OMIM:617253 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrolithiasis, Abnormality of the parathyroid morphology, Polydipsia, Hypophosphatemia, Lipoma,... |
ORPHA:99880 |
5-Oxoprolinase Deficiency |
|
Vomiting, Diarrhea, Enterocolitis, Abdominal pain |
OMIM:260005 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Aminoaciduria, Joint contracture of the hand, Joint hypermobility, Proximal re... |
OMIM:309000 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis |
OMIM:613960 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypophosphatemic rickets, Hypoinsulinemia, Hypoglycemia, Urinary retention, Reduced C-peptide lev... |
ORPHA:2126 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance, Autoimmunity, Proteinuria, Glomerulopathy, Microscopic hematuria |
ORPHA:79087 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Abnormal circulating lipid concentration, Loss of truncal subcutaneous adipos... |
OMIM:608709 |
Helix Syndrome |
|
Nephrolithiasis, Polydipsia, Polyuria, Hypocalciuria, Renal insufficiency, Hyperparathyroidism |
OMIM:617671 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Proximal renal... |
ORPHA:427 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Increased cir... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Increased cir... |
ORPHA:289548 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... |
OMIM:617885 |
Stimmler Syndrome |
|
Type II diabetes mellitus, Aminoaciduria, Abnormal dental enamel morphology |
ORPHA:3199 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Polydipsia, Abnormality of circulating cortisol level, A... |
ORPHA:320 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Polyuria, Nephrocalcinosis, Hypercalciuria |
OMIM:143880 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
Spastic Paraplegia 83, Autosomal Recessive |
|
Dysphagia, Urinary urgency |
OMIM:619027 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Prolinuria, Hyperprolinemia, Hyperglycinuria |
OMIM:239510 |
Pseudohypoaldosteronism, Type Iib |
|
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Immunodeficiency 37 |
|
Colitis, Decreased circulating antibody level, Infectious encephalitis |
OMIM:616098 |
Preeclampsia |
|
Chronic kidney disease, Small for gestational age, Abnormality of the kidney, Increased body mass... |
ORPHA:275555 |
Spastic Paraplegia 41, Autosomal Dominant |
|
Urinary urgency |
OMIM:613364 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Renal insu... |
OMIM:614723 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Micropenis, Polyuria, Renal cyst, Hypogonadism, Stage 5 chronic kidney disease |
OMIM:615994 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Hyperinsulinemia |
ORPHA:329249 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Hypoglycemia, Adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Abnormal response to ... |
ORPHA:90794 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria |
OMIM:239350 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Hyperbilirubinemia, Decreased resp... |
OMIM:609734 |
Spastic Paraplegia 27, Autosomal Recessive |
|
Spastic/hyperactive bladder |
OMIM:609041 |
X-Linked Spastic Paraplegia Type 16 |
|
Functional abnormality of the bladder |
ORPHA:100997 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Increased bone mineral density, Autoimmune hypoparathyroidism, Autoimmune antibody ... |
ORPHA:36913 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Hypoglycemia, Hypogonadism |
ORPHA:163693 |
Pseudohypoaldosteronism, Type Iic |
|
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia |
OMIM:614492 |
Pseudohypoaldosteronism, Type Iie |
|
Pseudohypoaldosteronism, Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... |
ORPHA:293964 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Hypercalciuria, Hyperphosphatemia, P... |
ORPHA:2239 |
Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D... |
OMIM:618969 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Polydipsia, Renal insufficiency, Hyperglycemia |
OMIM:615986 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Urinary bladder sphincter dysfunction |
ORPHA:284282 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hyperlipidemia, Abnormality of the kidney, Osteopenia, Osteoporosis, Hypoglyce... |
ORPHA:369 |
Galactosemia Iii |
|
Hypergalactosemia, Failure to thrive, Aminoaciduria, Galactosuria |
OMIM:230350 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum pyruvate, Aminoaciduria, Increased ... |
OMIM:603358 |
Dicarboxylic Aminoaciduria |
|
Nephrolithiasis, Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria |
OMIM:222730 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Stage 3 chronic kidney disease, Mildl... |
OMIM:619743 |
Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Hypoglycemia, Adrenal hypoplasia, Hyponatremia, Hyperkalemia |
OMIM:240200 |
X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Hypophosphatemia, Cellulitis, Craniosynostosis, Reduced bone mineral den... |
ORPHA:89936 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Idiopathic Hypercalciuria |
|
Renal calcium wasting, Osteopenia, Calcium oxalate nephrolithiasis, Osteoporosis, Hypercalciuria |
ORPHA:2197 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Decreased... |
OMIM:618108 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Thyrotoxicosis with toxic multinodular goiter, Hypomagnesemia, Graves... |
ORPHA:79102 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... |
OMIM:104200 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Failure to thrive, Delayed epiphyseal ossification, Hypophosphatemia, Sparse bone trabeculae, Rec... |
OMIM:600081 |
Valinemia |
|
Failure to thrive, Hypervalinemia, Valinuria |
OMIM:277100 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Increased erythrocyte protoporphyrin concentration, Increased urinary porphobilinogen, Purple uri... |
ORPHA:100924 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal glomerular visceral epithelial cell ... |
ORPHA:567548 |
Primary Hyperoxaluria Type 1 |
|
Nephrolithiasis, Dysuria, Decreased glomerular filtration rate, Recurrent urinary tract infection... |
ORPHA:93598 |
Autosomal Dominant Spastic Paraplegia Type 4 |
|
Urinary bladder sphincter dysfunction, Urinary urgency |
ORPHA:100985 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypercalciuria, Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insen... |
ORPHA:251274 |
Spastic Paraplegia 31, Autosomal Dominant |
|
Dysphagia, Urinary urgency |
OMIM:610250 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Spastic/hyperactive bladder |
ORPHA:101007 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting |
OMIM:201710 |
Vitamin D-Dependent Rickets, Type 2A |
|
Secondary hyperparathyroidism, Failure to thrive, Delayed epiphyseal ossification, Hypophosphatem... |
OMIM:277440 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Increased blood urea nitrogen, Craniosynostosis, Macroscopic hematuria, Memb... |
ORPHA:251004 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Abnormal localization of kidney, Incr... |
ORPHA:446 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Aminoaciduria, Elevated circulating creatine kinase concentration, Hypogly... |
OMIM:619386 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Renal tubular dysfunction, Glucose intolerance, Failure to thrive, Elevated hemoglobin A1c, Glyco... |
OMIM:616539 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Hypokalemia, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis, ... |
OMIM:602722 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Failure to thrive, Aciduria, Hyperalaninemia |
OMIM:617950 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Decreased glomerular filtration rate, Enlarged kidney, Focal seg... |
OMIM:232200 |
Calciphylaxis |
|
Secondary hyperparathyroidism, Cellulitis, Ectopic ossification, Hyperphosphatemia, Stage 5 chron... |
ORPHA:280062 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... |
OMIM:300635 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Abnormal e... |
OMIM:614963 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Nephrotic syndrome, Decreased glomerular filtration rate, Tubulointerstit... |
ORPHA:488627 |
Panhypophysitis |
|
Adrenocorticotropic hormone deficiency, Polydipsia, Decreased serum testosterone concentration, R... |
ORPHA:95513 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... |
ORPHA:181393 |
Galactokinase Deficiency |
|
Increased level of galactitol in urine, Failure to thrive, Hyperinsulinemia, Small for gestationa... |
ORPHA:79237 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Osteoporosis, Gout, Impaired glucose tolerance, Hypertriglyc... |
OMIM:610947 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Polyphagia, Hyperinsulinemia |
ORPHA:369873 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Graves disease, Pi... |
ORPHA:199299 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased liver function, Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtrat... |
ORPHA:85450 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Glycosuria, Osteolytic defects of the phalanges of the hand, Abnormality of cir... |
ORPHA:79474 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Increased urinary glycerol, Osteoporosis, Patho... |
OMIM:307030 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, ... |
ORPHA:231580 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Craniosynostosis, Micropenis, Hypospadias,... |
OMIM:614732 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Connective tissue nevi, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
Camptodactyly 1 |
|
Camptodactyly of finger, Increased urinary taurine |
OMIM:114200 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decreased circulating ... |
OMIM:619281 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Aminoaciduria |
ORPHA:2278 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Weight... |
ORPHA:26790 |
Neonatal Severe Primary Hyperparathyroidism |
|
Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyr... |
ORPHA:417 |
Pearson Syndrome |
|
Hypoparathyroidism, Adrenal insufficiency, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocal... |
ORPHA:699 |
Adenohypophysitis |
|
Adrenocorticotropic hormone deficiency, Decreased serum testosterone concentration, Reduced circu... |
ORPHA:95512 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of the urinary system, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2204 |
Enamel-Renal Syndrome |
|
Impaired renal concentrating ability, Abnormal calcium-phosphate regulating hormone level, Hypoph... |
ORPHA:1031 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Functional abnormality of the bladder |
ORPHA:488594 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Dicarboxylic aciduria, Decreased plasma carnitine, Elevated circulating acy... |
ORPHA:79159 |
Sheehan Syndrome |
|
Adrenocorticotropic hormone deficiency, Central adrenal insufficiency, Reduced circulating prolac... |
ORPHA:91355 |
Dibasic Amino Aciduria I |
|
Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria |
OMIM:222690 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Methylmalonic aciduria, Hypoglycemia, Dicarboxylic aciduria, Methylmalonic aci... |
ORPHA:289504 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:145600 |
Propionic Acidemia |
|
Hypoglycemia, Organic aciduria, Hyperammonemia |
ORPHA:35 |
Short Stature Due To Ghsr Deficiency |
|
Decreased body weight, Hypoglycemia, Delayed puberty, Decreased serum insulin-like growth factor ... |
ORPHA:314811 |
Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of toe, Camptodactyly of finger, Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Osteoporosis, Autoimmune antibod... |
ORPHA:398063 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Increased serum pyruvate, Organic aciduria |
OMIM:614741 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Porphyria Variegata |
|
Chronic kidney disease, Inappropriate antidiuretic hormone secretion, Increased urinary porphobil... |
ORPHA:79473 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Osteomalacia, Rickets |
OMIM:146350 |
Majeed Syndrome |
|
Failure to thrive, Osteomyelitis, Increased bone mineral density, Flexion contracture, Cachexia, ... |
ORPHA:77297 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Decreased body weight, Hyperbilirubinemia, Hyperammonemia, Neonatal insul... |
ORPHA:1667 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
Hereditary Fructose Intolerance |
|
Chronic kidney disease, Hypophosphatemia, Reactive hypoglycemia, Renal insufficiency, Hyperuricem... |
ORPHA:469 |
Mirage Syndrome |
|
Adrenal insufficiency, Decreased body weight, Hypergonadotropic hypogonadism, Hypospadias, Radial... |
OMIM:617053 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphate... |
OMIM:146200 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Type I diabetes mellitus, Proximal tubulopathy |
OMIM:560000 |
Cholera |
|
Abnormality of renal excretion, Hypokalemia, Hypocalcemia, Hypoglycemia, Abnormal blood ion conce... |
ORPHA:173 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Hyponatremia, Ad... |
ORPHA:199296 |
Senior-Boichis Syndrome |
|
Renal atrophy, Chronic kidney disease, Polydipsia, Elevated circulating alkaline phosphatase conc... |
ORPHA:84081 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Failure to thrive, 3-Methylglutaconic aciduria |
ORPHA:67048 |
Fibrous Dysplasia Of Bone |
|
Abnormality of the endocrine system, Hypophosphatemia, Fibrous dysplasia of the bones, Precocious... |
ORPHA:249 |
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus |
|
Enamel hypoplasia, Alaninuria, Diabetes mellitus |
OMIM:202900 |
Riboflavin Deficiency |
|
Hypoglycemia, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration |
OMIM:615026 |
Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Prolinuria, Hyperprolinemia, Hyperglycinuria |
OMIM:239500 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Aminoaciduria, Hyperammonemia |
ORPHA:664 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Acute kidney inju... |
ORPHA:99845 |
Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Polyuria, Renal insufficiency, Enuresis, Nephrocalcinosis |
OMIM:204690 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Increased bone mineral density, Reduced circulating prolactin concentration, Decrea... |
ORPHA:79444 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Failure to thrive, Chronic gastritis, Colitis, Decreased circulating IgG level, Eczema, Diarrhea,... |
OMIM:608809 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hypokalemia, Hyponatremia, Hyperaldoster... |
OMIM:214700 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Increased blood urea nitrogen, Hemoglobinuria, Glycosuria, Decreased seru... |
ORPHA:447 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia, Renal agenesis, Hypospadias, Abnormality of endocrine pancreas physiology, Multicysti... |
ORPHA:93111 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Increased urine succinate level, Hypoglycemia, Decreased plasma free carnitine... |
OMIM:619048 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Acute kidney injury, Hyponatremia, Hypopituitarism |
ORPHA:449285 |
Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:143860 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Decreased glomerular filtration rate, Enlarged kidney, Focal seg... |
OMIM:232220 |
Autosomal Spastic Paraplegia Type 72 |
|
Urinary bladder sphincter dysfunction |
ORPHA:401849 |
Hartsfield Syndrome |
|
Craniosynostosis, Micropenis, Hypospadias, Hypernatremia, Gonadotropin deficiency, Diabetes insip... |
OMIM:615465 |
Macrosomia Adiposa Congenita |
|
Adrenocortical adenoma, Polyphagia |
OMIM:248100 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Nephritis, Arthritis |
OMIM:216950 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Oliguria, Abnormal blood ion concent... |
ORPHA:31824 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis, Aminoaciduria |
OMIM:204730 |
Acute Intermittent Porphyria |
|
Dark urine, Dysuria, Pseudobulbar paralysis, Increased urinary porphobilinogen, Elevated urinary ... |
ORPHA:79276 |
Iminoglycinuria |
|
Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
OMIM:242600 |
Iminoglycinuria |
|
Hydroxyprolinuria, Prolinuria, Hyperglycinuria |
ORPHA:42062 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... |
ORPHA:1306 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Hyperparathyroidism, Ne... |
OMIM:239199 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess, Renal salt wasting |
OMIM:613743 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... |
OMIM:606762 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... |
OMIM:232700 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, 3-Methylglutaco... |
OMIM:618120 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity, Osteoarthritis |
ORPHA:2206 |
3-Hydroxyisobutyric Aciduria |
|
Failure to thrive, Aminoaciduria |
OMIM:236795 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Adrenocorticotropic hormone deficiency, Precocious puberty, Decreased response to growth hormone ... |
ORPHA:91354 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating lipid concentration, Generalized lipodystrophy, Unicameral... |
ORPHA:79086 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, S... |
ORPHA:95427 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Decreased glomerular filtration rate, Macroscopic hematuria, Glomeru... |
ORPHA:93126 |
Axial Osteomalacia |
|
Renal cyst, Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mine... |
OMIM:109130 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Anti-GAD65 antibody, Osteoporosis, Joint laxity, Delayed thelarche... |
OMIM:616033 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus |
ORPHA:30925 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Increased bone mineral density, Reduced circulating prolactin concentration, Reduce... |
ORPHA:79443 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Enam... |
OMIM:211900 |
Cystinuria |
|
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... |
OMIM:220100 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Nephrolithiasis, Polydipsia, Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism |
ORPHA:369929 |
Glycogen Storage Disease Ic |
|
Hyperlipidemia, Decreased glomerular filtration rate, Hematuria, Focal segmental glomeruloscleros... |
OMIM:232240 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hematuria, Acute kidney injury, Proteinuria, Anuria, Stage 5 chronic kidney disease, Hemolytic-ur... |
OMIM:612925 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Multiple lipomas, Osteopoikilosis |
ORPHA:1879 |
Galactosemia I |
|
Increased level of galactitol in urine, Failure to thrive, Increased level of galactitol in red b... |
OMIM:230400 |
Uremic Pruritus |
|
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... |
ORPHA:94059 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Failure to thrive, Increased circulating renin level, Hyper... |
OMIM:177735 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Decreased circulating androgen concentration, Decreased response to growth hor... |
ORPHA:293978 |
Melorheostosis |
|
Failure to thrive, Joint stiffness, Increased bone mineral density, Arthritis, Atypical scarring ... |
ORPHA:2485 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Joint stiffness, Osteoporosis, Increased bone mineral... |
OMIM:136300 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:229100 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Hyperammonemia, Hyperisoleu... |
ORPHA:2394 |
Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Panhypogammaglobulinemia, Villous atr... |
OMIM:209920 |
Galactose Epimerase Deficiency |
|
Weight loss, Aminoaciduria |
ORPHA:79238 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal calcium-phosphate regulating hormone level, Hypoammonemia, Hematuria, Proteinuria, Umbil... |
ORPHA:534 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased cir... |
ORPHA:171876 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Legionnaires Disease |
|
Cellulitis, Hematuria, Renal insufficiency, Hyponatremia, Proteinuria |
ORPHA:549 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... |
OMIM:608612 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Failure to thrive, Hyponatremia |
OMIM:618426 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... |
ORPHA:90790 |
Esophagitis, Eosinophilic, 2 |
|
Dysphagia, Failure to thrive, Vomiting, Esophagitis |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Dysphagia, Failure to thrive, Vomiting, Esophagitis |
OMIM:610247 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Loss of gluteal... |
OMIM:604367 |
Mueller-Weiss Syndrome |
|
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... |
ORPHA:566943 |
Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, Hypocalcemia, Inguinal hernia, Stage 1 chronic kidney disease, Osteoporos... |
OMIM:218330 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Abnormal bone ossification, Oligosacchariduria, Delayed patellar ... |
ORPHA:163649 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... |
ORPHA:85188 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome |
OMIM:612926 |
Lysinuric Protein Intolerance |
|
Argininuria, Oroticaciduria, Decreased response to growth hormone stimulation test, Decreased glo... |
ORPHA:470 |
Gastroesophageal Reflux |
|
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus |
OMIM:109350 |
Shigellosis |
|
Urethritis, Arthritis, Hypoglycemia, Abnormal blood ion concentration, Acute kidney injury, Hypon... |
ORPHA:810 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hematuria, Acute kidney injury, Proteinuria, Anuria, Hemolytic-uremic syndrome |
OMIM:612922 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Generalized aminoaciduria |
ORPHA:882 |
Scorpion Envenomation |
|
Ketonuria, Hypokalemia, Increased circulating NT-proBNP concentration, Glycosuria, Acute kidney i... |
ORPHA:466677 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Primary Hyperoxaluria |
|
Failure to thrive, Chronic kidney disease, Recurrent fractures, Calcium oxalate nephrolithiasis, ... |
ORPHA:416 |
Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Bloody diarrhea, Colitis, Small for gestational age, Chronic hepatitis, Diarrh... |
OMIM:614602 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Nephrolithiasis, Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hype... |
OMIM:608594 |
Immunodeficiency 76 |
|
Colitis, Recurrent pneumonia, Chronic diarrhea |
OMIM:619164 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphatemia, Hypocalcemic se... |
OMIM:618883 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... |
OMIM:601820 |
Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Proximal renal tubular acidosis, Increased serum pyruvate, Hyperalaninemia |
OMIM:266150 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hyperphosphate... |
ORPHA:94090 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... |
OMIM:262190 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder, Small for gestational age |
OMIM:300076 |
Hypophosphatasia, Infantile |
|
Failure to thrive, Craniosynostosis, Elevated plasma pyrophosphate, Decreased calvarial ossificat... |
OMIM:241500 |
Familial Hyperaldosteronism Type I |
|
Polydipsia, Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, De... |
ORPHA:403 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis |
OMIM:261650 |
Saccharopinuria |
|
Citrullinuria, Hyperlysinemia, Cystinuria, Hyperammonemia, Hyperlysinuria, Abnormality of circula... |
ORPHA:3124 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Eosinophilic microabscess formation in the esophagus, Vomiting, Lactose intolerance, Feeding diff... |
ORPHA:411696 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Abnormal glucose homeostasis, Hyperglycemia |
ORPHA:391673 |
Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|