Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Uridine-Cytidineuria |
|
Elevated urinary uridine level, Elevated urinary cytidine |
OMIM:618477 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria |
OMIM:247950 |
Pentosuria |
|
Abnormality of urine homeostasis |
OMIM:260800 |
Threoninemia |
|
Hyperthreoninuria |
OMIM:273770 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:239510 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Neuroblastoma |
|
Elevated urinary catecholamine level |
ORPHA:635 |
Stimmler Syndrome |
|
Microdontia, Type II diabetes mellitus, Aminoaciduria, Abnormal dental enamel morphology |
ORPHA:3199 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Abnormality of the dentition |
ORPHA:2278 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Saccharopinuria |
|
Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria |
OMIM:268700 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... |
OMIM:300555 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Idiopathic Hypercalciuria |
|
Renal calcium wasting, Hypercalciuria, Parathormone-independent increased renal tubular calcium r... |
ORPHA:2197 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
ORPHA:42062 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:616963 |
Danubian Endemic Familial Nephropathy |
|
Nephropathy |
OMIM:124100 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Scolio... |
OMIM:611555 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Hyper-Beta-Alaninemia |
|
Increased urinary taurine |
OMIM:237400 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Cataract 47 |
|
Glycosuria |
OMIM:612018 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
Mercaptolactate-Cysteine Disulfiduria |
|
High, narrow palate, Aminoaciduria, High palate |
OMIM:249650 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Hypercalciuria, Hyperphosphaturia, Nephrolithiasis |
OMIM:612286 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria |
OMIM:204750 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Gastric Cancer |
|
Increased level of L-fucose in urine |
OMIM:613659 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Hyperphosphaturia, Medullary nephrocalcinosis, Hypoplasia of teeth |
OMIM:613312 |
Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Nephrocalcinosis, Aminoaciduria,... |
OMIM:616026 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria |
OMIM:612718 |
Pentosuria |
|
Abnormal urine carbohydrate level |
ORPHA:2843 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Aminoaciduria |
OMIM:603358 |
5-Oxoprolinase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis |
OMIM:260005 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria |
OMIM:606528 |
Well-Differentiated Liposarcoma |
|
Abnormal renal physiology |
ORPHA:99971 |
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity |
|
Homocystinuria |
OMIM:236250 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:143880 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis |
OMIM:612287 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Elevated urinary formiminoglutamic acid level |
OMIM:229100 |
Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:239500 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria |
OMIM:618857 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria |
OMIM:204730 |
Galactosemia Iii |
|
Aminoaciduria, Galactosuria |
OMIM:230350 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Hartnup Disorder |
|
Glossitis, Neutral hyperaminoaciduria |
OMIM:234500 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
Valinemia |
|
Valinuria |
OMIM:277100 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria |
ORPHA:417 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia |
ORPHA:99879 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Delayed eruption of p... |
ORPHA:839 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hypoglycemia |
OMIM:615158 |
Hyperlysinemia, Type I |
|
Hyperlysinuria |
OMIM:238700 |
Cystathioninuria |
|
Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypercalciuria, Generalized ami... |
ORPHA:2088 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria |
ORPHA:147 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Hereditary Renal Hypouricemia |
|
Back pain, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithi... |
ORPHA:94088 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
Galactose Epimerase Deficiency |
|
Aminoaciduria |
ORPHA:79238 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria |
OMIM:239199 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam... |
ORPHA:1031 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Argininemia |
|
Diaminoaciduria |
ORPHA:90 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria |
ORPHA:882 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketonuria, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Carnosinuria |
OMIM:309930 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria |
OMIM:242050 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... |
OMIM:600995 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Renal magnesium wasting, Nephrocalcinosis, Renal potassium wasting |
ORPHA:564178 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Distal renal tubular acidosis, Hypercalciuria |
OMIM:602722 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Renal tubular dy... |
ORPHA:69076 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperlysinuria |
OMIM:238750 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria, Thick vermilion border, Long philtrum |
ORPHA:833 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy |
OMIM:613404 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
Glucose/Galactose Malabsorption |
|
Abnormal oral glucose tolerance, Glycosuria |
OMIM:606824 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting |
OMIM:618314 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... |
OMIM:204690 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri... |
ORPHA:157215 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria |
OMIM:250900 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration |
OMIM:605850 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a... |
ORPHA:47159 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria |
ORPHA:33574 |
Familial Expansile Osteolysis |
|
Hydroxyprolinuria, Premature loss of teeth, Fragile teeth |
OMIM:174810 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Hypotonia-Cystinuria Syndrome |
|
Retrognathia, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... |
ORPHA:84090 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect |
|
Methylmalonic aciduria |
OMIM:613646 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul... |
OMIM:227810 |
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin... |
OMIM:618384 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hypoglycemia |
ORPHA:664 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Hyperparathyroidism, Neonatal Severe |
|
Polyuria, Aminoaciduria, Hyperphosphaturia, Hypercalciuria |
OMIM:239200 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Micrognathia, Lacticaciduria, Renal hypoplasia, Wide mouth, Aminoaciduria, 3-Methylglutaconic aci... |
OMIM:604273 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria, Hypoalbuminemia |
OMIM:614652 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:266130 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Histidinuria Due To A Renal Tubular Defect |
|
Impaired histidine renal tubular absorption, Thin upper lip vermilion, Histidinuria, Long philtru... |
OMIM:235830 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Increased circulating renin level, Decreased g... |
OMIM:601198 |
Hypertryptophanemia |
|
Tryptophanuria |
OMIM:600627 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... |
OMIM:619386 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Tooth abscess |
ORPHA:89937 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypercalciuria, Medullary nephrocalcinosis, Increased circulating renin level, Polyuria |
OMIM:300971 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyuria |
OMIM:222100 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury |
ORPHA:33111 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:160010 |
Saccharopinuria |
|
Citrullinuria, Hyperlysinuria, Abnormality of circulating enzyme level, Cystinuria |
ORPHA:3124 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia, Long philtrum |
ORPHA:2158 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic sy... |
OMIM:608709 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
D-2-Hydroxyglutaric Aciduria 2 |
|
D-2-hydroxyglutaric aciduria |
OMIM:613657 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... |
OMIM:300554 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy |
OMIM:612075 |
Mody |
|
Abnormality of the kidney, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Abnormality of dental color, Kyphoscoliosis, Horseshoe kidney |
OMIM:163200 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Micrognathia, Stage 5 chronic kidney disease, Nep... |
OMIM:301006 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine, Recurrent hypoglycemia, Increased proinsulin:insulin ratio |
ORPHA:94086 |
Blue Diaper Syndrome |
|
Nephrocalcinosis |
OMIM:211000 |
Dermotrichic Syndrome |
|
Aminoaciduria, Abnormal vertebral morphology |
ORPHA:99688 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... |
OMIM:614455 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Abnormality of the dentition, Nephrol... |
ORPHA:93598 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Micrognathia, Hypercalciuria, Nephrocalcinosis, Tooth malposition |
OMIM:156400 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Abnormality of the dentition, Vertebral clefting, Hypercalciuria, N... |
OMIM:241500 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Micropenis, Hypospadias, Hypercalciuria |
OMIM:614732 |
Myasthenic Syndrome, Congenital, 22 |
|
Tented upper lip vermilion, Cystinuria |
OMIM:616224 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Abnormality of the dentition, Chronic k... |
ORPHA:416 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... |
OMIM:231680 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria, Elevated circulating creatine kinase concentration |
OMIM:609560 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Glycine Encephalopathy 1 |
|
Hyperglycinuria |
OMIM:605899 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
Amyloidosis, Familial Visceral |
|
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria |
OMIM:105200 |
Glutathionuria |
|
Urinary incontinence, Glutathionuria |
OMIM:231950 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria, Abnormality of the vertebral column, Abnormal vertebral morphology |
OMIM:250620 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:603278 |
Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:612933 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Abnormality of the dentition |
OMIM:193100 |
Hypomagnesemia 2, Renal |
|
Renal magnesium wasting, Renal insufficiency, Hypocalciuria |
OMIM:154020 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Insulin resistance, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria, Abnormality of the dentition, Cleft upper lip |
OMIM:273400 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polyuria |
OMIM:613677 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... |
OMIM:619155 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Nephrolithiasis, Cystinuria |
ORPHA:163693 |
Sarcosinemia |
|
Hypersarcosinuria |
ORPHA:3129 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Sulfocysteinuria, Elevated circulating creatine kinase concentration, ... |
OMIM:272300 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Galloway-Mowat Syndrome 5 |
|
Mandibular prognathia, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... |
OMIM:617731 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Organic aciduria, Elevated circulating creatine kinase concentration, Scoliosis |
OMIM:255100 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Elevated... |
OMIM:220150 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Micrognathia, Cleft ... |
OMIM:616730 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalciuria, Hypocalciuria, Nephrolithiasis |
OMIM:145980 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Homocystinuria, Methylmalonic aciduria |
OMIM:309541 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Persistence of primary teeth, Hematuria |
ORPHA:375 |
Oculoskeletodental Syndrome |
|
Renal agenesis, Hypercalciuria, Macroglossia, Oligodontia, Mucopolysacchariduria, Thoracic kyphos... |
OMIM:618440 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechoge... |
OMIM:613845 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtrum, Hypercalciuria, Rena... |
OMIM:615398 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Galactosemia I |
|
Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine |
OMIM:230400 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria |
ORPHA:1933 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Hyperinsulinemia, Glycosuria, Renal Fanconi syndrome, Fasting hypoglycemia, Hyperins... |
ORPHA:263455 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Kyphosis, Hypercalciuria, Hydroxyprolinuria, Premature l... |
OMIM:239000 |
Oculoskeletodental Syndrome |
|
Hyperlordosis, Abnormality of the dentition, Nephrocalcinosis, Oligodontia, Thoracic kyphosis, Sc... |
ORPHA:557003 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria |
OMIM:268315 |
Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Hypersulfaturia |
|
Increased urinary sulfate, Nephrolithiasis |
OMIM:620372 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria |
ORPHA:2239 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria |
ORPHA:23 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Kypho... |
ORPHA:812 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Increased urinary disaccharide excretion, Irregular verteb... |
OMIM:271630 |
Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis, Kyphoscoliosis, Delayed eruption of teeth |
OMIM:617105 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Renal sodium wasting,... |
ORPHA:320 |
Orthostatic Intolerance |
|
Elevated urinary norepinephrine level |
OMIM:604715 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria, Ketotic hypoglycemia |
OMIM:616095 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Kyphosis, Chronic kidney disease, Narrow ... |
ORPHA:261222 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis |
OMIM:616833 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Neph... |
OMIM:211900 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Hyperlordosis, Nephrotic syndrome, Type I diabetes mellitus, Nephropathy |
ORPHA:1192 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Abnormal vertebral morphology |
ORPHA:352540 |
Lipoyltransferase 1 Deficiency |
|
Alaninuria, Hyperglutaminuria, Lacticaciduria |
OMIM:616299 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Micrognathia, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atrophy, Red... |
OMIM:208085 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria, Short philtrum |
OMIM:603585 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine |
OMIM:271980 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
ORPHA:2364 |
Variegate Porphyria |
|
Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Porphyrinuria |
OMIM:176200 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Type II diabetes mellitus |
ORPHA:225 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria |
ORPHA:30 |
Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... |
ORPHA:275555 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Polyuria |
OMIM:620152 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria, Abnormality of the dentition |
ORPHA:66631 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile |
ORPHA:391417 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Downturned corners of mouth, Nephrotic syndrome, Focal segmental glomerulosclerosis,... |
OMIM:618347 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
Tryptophanuria With Dwarfism |
|
Tryptophanuria |
OMIM:276100 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Kyphoscoliosis, Minimal change glomerulonephritis, Micr... |
OMIM:618348 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... |
OMIM:613090 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ... |
OMIM:229600 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Homocystinuria |
OMIM:250940 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Nephrolithiasis, Hypodontia |
ORPHA:1816 |
Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Diabetes mellitus, Stage 5 chronic... |
OMIM:219800 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lacticaciduria |
ORPHA:79246 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Micrognathia, Hypoplasia of the maxilla, Stage 5 chronic kidney... |
OMIM:166300 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Gyrate Atrophy Of Choroid And Retina |
|
Aminoaciduria |
ORPHA:414 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Hyperphosphaturia, Abnormality of renal excretion, Abnormal sacroiliac... |
ORPHA:289176 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury |
ORPHA:54057 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... |
ORPHA:567548 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Distal renal tubular acidosis, Nephrocalcinosis |
OMIM:611590 |
Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Type I diabetes melli... |
ORPHA:213 |
Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Sacral dimple, Ketonuria, Abnormality of circulating enzyme level |
ORPHA:35706 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Abnormal oral mucosa morphology, Chronic kidney disease, ... |
ORPHA:85445 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Diabetes mellitus |
OMIM:249270 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
Essential Fructosuria |
|
Abnormal urine carbohydrate level, Hyperglycemia |
ORPHA:2056 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Calcium nephrolithiasis, Renal tubular dysfunction, Hypercalciuria |
OMIM:241530 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Renal insufficiency, Proteinuria, Stage 5... |
ORPHA:650 |
Leber Congenital Amaurosis 1 |
|
Hyperthreoninuria |
OMIM:204000 |
Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Thick lower lip vermilion, Nephrocalcinosis, Wide mouth, Open mouth, Thick upper lip vermilion |
OMIM:611087 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis |
OMIM:615633 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... |
ORPHA:99885 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Hypoglycemia, Renal salt wasting |
OMIM:201910 |
Wilson Disease |
|
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Nephrolithiasi... |
OMIM:277900 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Tented upper lip vermilion, Methylmalonic aciduria, Eleva... |
OMIM:614105 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis, Open mouth, Tented upper lip vermilion, Wide mouth |
ORPHA:500533 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria, High palate |
OMIM:614520 |
Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting |
OMIM:619406 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Diabetes mellitus, Proteinuria, Renal artery stenosis |
OMIM:209010 |
Hypophosphatasia, Childhood |
|
Carious teeth, Elevated urine pyrophosphate, Phosphoethanolaminuria, Premature loss of primary teeth |
OMIM:241510 |
Bruck Syndrome 2 |
|
Hydroxyprolinuria, Platyspondyly |
OMIM:609220 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Increased circulating renin level, Renal s... |
OMIM:612780 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... |
OMIM:256300 |
Mccune-Albright Syndrome |
|
Hyperphosphaturia, Dental malocclusion, Abnormal facial skeleton morphology, Renal phosphate wast... |
ORPHA:562 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorp... |
OMIM:145981 |
Seckel Syndrome 10 |
|
Microretrognathia, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Insuli... |
OMIM:617253 |
Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Hypoglycemia |
ORPHA:6 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Homocystinuria, Methylmalonic aciduria |
OMIM:236270 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria |
OMIM:215250 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Short neck, Micrognathia, C... |
OMIM:300990 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction, Enamel hypomineralization, Spinal canal stenosis |
OMIM:307800 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Red-brown urine, Stage 5... |
ORPHA:228302 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Organic aciduria |
OMIM:617184 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... |
ORPHA:73224 |
Hartnup Disease |
|
Abnormal urinary color, Glossitis, Gingivitis, Neutral hyperaminoaciduria |
ORPHA:2116 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... |
OMIM:601678 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Tongue fasciculations, Lacticaciduria, Scoliosis |
OMIM:618811 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Neonatal hypoglyc... |
ORPHA:445038 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Scoliosis, Ves... |
OMIM:617271 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Kyphoscoliosis, Oligosacchariduria, Macroglossia, Hig... |
OMIM:616354 |
Hyperprolinemia Type 2 |
|
Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra... |
ORPHA:79101 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Thin upper lip vermilion, Organic aciduria, Hypoglycemia, Long philtrum |
OMIM:614741 |
Helix Syndrome |
|
Nephrolithiasis, Renal insufficiency, Hypocalciuria, Polyuria |
OMIM:617671 |
Familial Hyperaldosteronism Type Iii |
|
Hypercalciuria |
ORPHA:251274 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Proteinuria, Micrognathia, Hematuria, Tubulointerstitial nephritis |
OMIM:616901 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Oligosaccharidur... |
ORPHA:534 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria, Microdontia |
ORPHA:1765 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Beta-aminoisobutyric aciduria, Retrognathia, High palate |
OMIM:615330 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Medium chain dicarboxylic aciduria, Hyperglycinuria, Hypoglycemia |
OMIM:201450 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria |
OMIM:616084 |
Insulin-Resistance Syndrome Type B |
|
Proteinuria, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, H... |
ORPHA:2298 |
Hypotonia-Cystinuria Syndrome |
|
Tented upper lip vermilion, Nephrolithiasis, Cystinuria, Cystine crystalluria, Neonatal hypoglycemia |
OMIM:606407 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Macroglossia, Highly elevated creatine kinase, Exercise-induced myoglobinuria |
ORPHA:352479 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Micrognathia, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High palate, Renal artery stenos... |
OMIM:617913 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abnormal renal physiology |
ORPHA:2290 |
Bartter Syndrome Type 4 |
|
Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki... |
ORPHA:89938 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Proximal tubulopathy, Polyuria |
OMIM:560000 |
Propionic Acidemia |
|
Organic aciduria, Hypoglycemia |
ORPHA:35 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Glomerulopathy, Renal insufficiency, Proteinuria, Malar prominence, Wide m... |
ORPHA:2715 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Micrognathia, Abnorm... |
ORPHA:2260 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolit... |
ORPHA:405 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Hypoglycemia, Mesangial hypercellularity, Stage 5 chron... |
OMIM:617575 |
Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Proteinuria, Nephritis |
ORPHA:182050 |
Autism, Susceptibility To, 3 |
|
Ketonuria |
OMIM:608049 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri... |
OMIM:252150 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Renal tubular dysfunction, Glucose intolerance, Glycosuria, Narrow mouth |
OMIM:616539 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Mandibular prognathia, Glomerulonephritis, Chronic kidney disease, High palate, Thoracic kyphosis |
ORPHA:2172 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Lacticaciduria |
OMIM:619063 |
Urocanase Deficiency |
|
Urocanic aciduria |
OMIM:276880 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, High, narrow palate, Hypercalc... |
ORPHA:369837 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
Isovaleric Acidemia |
|
Hyperglycinuria |
OMIM:243500 |
Paroxysmal Cold Hemoglobinuria |
|
Back pain, Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria |
OMIM:300322 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Enuresis, Ren... |
OMIM:619743 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Kyphoscoliosis, Organic aciduria, Tongue fasciculations, Scoliosis |
OMIM:614707 |
Hawkinsinuria |
|
4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria |
ORPHA:2118 |
Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia, Retrognathia |
OMIM:191830 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis |
OMIM:146200 |
Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria |
ORPHA:100024 |
Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Canavan Disease |
|
Elevated urinary N-acetylaspartic acid level |
OMIM:271900 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Downturned corners of mouth, Nephropathy, Proteinuria, Micrognathia |
ORPHA:2774 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Renal insufficiency, Proteinuria, Hypoplasia of the maxilla, Renal hypoplasia,... |
ORPHA:1307 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Methylmalonic aciduria |
OMIM:251120 |
Ohdo Syndrome |
|
Proteinuria, Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narro... |
OMIM:249620 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuria, Hype... |
OMIM:241200 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Ketotic hypoglycemia |
ORPHA:79159 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Autoinflammatory-Pancytopenia Syndrome |
|
Type I diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:619858 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Sandwich appearance of vertebral bodies, Vertebral compression fracture, Prema... |
OMIM:602080 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:615994 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Megacystis, Polyuria |
OMIM:125800 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Wide mouth, Renal corticomedull... |
OMIM:243910 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Megacystis, Polyuria |
OMIM:304800 |
Combined Malonic And Methylmalonic Aciduria |
|
Methylmalonic aciduria |
OMIM:614265 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Pancreatic Cancer |
|
Increased level of L-fucose in urine |
OMIM:260350 |
Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Hypermagnesiuria, Hypercalciuria |
ORPHA:428 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Kyphosis, Thick lower lip vermilion, Widely spaced teeth, Scoliosis, H... |
OMIM:619797 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Abnormality of the kidney, Hypoglycemia |
ORPHA:369 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Gingival overgrowth, Nephrotic syndrome, Long philt... |
OMIM:619428 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Thin upper lip vermilion, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concen... |
OMIM:614376 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Dental crowding, Kyphoscoliosis, Methioninuria, High palate, Scoliosis, Biconcave vertebral bodie... |
OMIM:236200 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:99880 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria |
OMIM:612073 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
Gitelman Syndrome |
|
Polyuria, Renal magnesium wasting, Enuresis, Hypocalciuria, Increased circulating renin level, No... |
OMIM:263800 |
Myasthenia Gravis |
|
Glycosuria |
ORPHA:589 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Aciduria |
OMIM:617950 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Kyphoscoliosis, Elevated urinary norepinephrine level, Hype... |
ORPHA:653 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria, Hypoglycemic seizures, Hypoketotic hypoglycemia |
OMIM:231530 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Supernumerary tooth, Thin vermilion border, Thi... |
ORPHA:86818 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... |
ORPHA:368 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Exercise-ind... |
OMIM:607155 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:143 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hyperlordosis, Micrognathia, Hypophosphaturia, Dental malocclusion, Localized hypoplasia of denta... |
ORPHA:73223 |
D-Lactic Aciduria With Gout |
|
Lacticaciduria |
OMIM:245450 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Nephropathy, Abnormal dental enamel morphology |
ORPHA:2238 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormality ... |
ORPHA:1133 |
Seckel Syndrome 8 |
|
Micrognathia, Kyphoscoliosis, Ectopic kidney |
OMIM:615807 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine, Hypernatriuria, Hyposthenuria, Decreased circulating renin level |
OMIM:300539 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Hypospadias, Scoliosis, Abnormality of the dentition |
ORPHA:1548 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia,... |
OMIM:619055 |
Xanthinuria, Type Ii |
|
Nephrolithiasis, Renal insufficiency, Increased urinary hypoxanthine level, Xanthinuria |
OMIM:603592 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
D-Glyceric Aciduria |
|
Hyperglycinuria |
ORPHA:941 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypoglycemia, Kyphoscoliosis, Nephrocalcinosis, High palate, Retrognathia |
OMIM:618005 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Renal hypoplasia/aplasia, T... |
ORPHA:2863 |
Galloway-Mowat Syndrome |
|
Abnormal intervertebral disk morphology, Proteinuria, Micrognathia, Abnormality of the dentition,... |
ORPHA:2065 |
D-Glyceric Aciduria |
|
Aminoaciduria, Hypoglycemia, Micropenis |
OMIM:220120 |
Citrullinemia, Type Ii, Adult-Onset |
|
Argininosuccinic aciduria |
OMIM:603471 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Urocanic Aciduria |
|
Urocanic aciduria |
ORPHA:210128 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:119 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Proteinuria |
ORPHA:834 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Lacticaciduria, Hy... |
OMIM:605711 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Multiple bladder diverticula... |
ORPHA:2728 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Dentinogenesis imperfecta, Retrognathia, Platyspondyly, Delayed eruption of permanent teeth, Peri... |
OMIM:619269 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Aapoaiv Amyloidosis |
|
Back pain, Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial ... |
ORPHA:439232 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Papa Syndrome |
|
Type I diabetes mellitus, Proteinuria |
ORPHA:69126 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cleft palate, Aminoaciduria, Polycystic kidney dysplasia, Micrognathia |
OMIM:214110 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting |
OMIM:612089 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Impaired glucose tolerance, Abnormality of the dentition,... |
ORPHA:769 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology |
OMIM:609886 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Nephrotic syndrome |
ORPHA:69061 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Homocitrullinuria |
OMIM:238970 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:276700 |
Familial Tumoral Calcinosis |
|
Abnormality of the dentition, Abnormality of the gingiva, Gingivitis, Nephrocalcinosis, Abnormal ... |
ORPHA:53715 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, High palate, Renal hypoplasia |
OMIM:619053 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Increased circulating renin level, Abnorma... |
ORPHA:199343 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Nephrocalci... |
OMIM:268310 |
Riboflavin Deficiency |
|
Dicarboxylic aciduria, Hypoglycemia |
OMIM:615026 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... |
OMIM:277400 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Elevated circulating C-reactive protein concentration, Increased circulating ferriti... |
OMIM:614034 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury |
ORPHA:57 |
Corticosterone Methyloxidase Type I Deficiency |
|
Increased circulating renin level, Renal salt wasting |
OMIM:203400 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Richards-Rundle Syndrome |
|
Ketonuria |
ORPHA:1399 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating renin level, Renal salt wasting |
OMIM:610600 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria |
OMIM:619003 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Increased urinary taurine |
OMIM:615501 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine... |
OMIM:252160 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria |
OMIM:614946 |
Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish enamel, Abnormali... |
ORPHA:582 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Methylmalonic aciduria, Micrognathia |
OMIM:614857 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Micrognathia, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, High palate, Al... |
OMIM:620089 |
Tyrosinemia, Type Iii |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria |
OMIM:276710 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria |
OMIM:618886 |
Opsismodysplasia |
|
Short neck, Hypoplasia of the odontoid process, Renal phosphate wasting, Hypoplastic vertebral bo... |
OMIM:258480 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsuli... |
OMIM:262190 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ... |
ORPHA:447 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Kyphosis, Nephrotic syndrome, Hypoalbuminemia, Sc... |
ORPHA:79327 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odont... |
OMIM:253000 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... |
ORPHA:99845 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia, Generalized aminoaciduria |
OMIM:264700 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Malar... |
ORPHA:2522 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Hypospadias, Dental crowding, Hyperlordosis, Micrognathi... |
OMIM:615761 |
Pearson Marrow-Pancreas Syndrome |
|
Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Type... |
OMIM:557000 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, High palate, Scoliosis |
OMIM:611225 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:713 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Micrognathia, Cleft palate, Downturned corners of mouth, Wide mouth, Amino... |
ORPHA:85276 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, 2-ethylhydracylic aciduria |
OMIM:610006 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Ketonuria, Hypoglycemia, Hyperglycinuria, Organic aciduria |
OMIM:210210 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Proteinuria, Hypoglycemia, Carious teeth, Nephrolithiasis, Stage 5 chronic kidney disease, Oral u... |
ORPHA:79259 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hyperlysinuria |
OMIM:616034 |
Neuraminidase Deficiency |
|
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... |
OMIM:256550 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Sacroiliac joint synovitis, Tooth abscess, Renal phosphate wasting, Hypocalciuri... |
ORPHA:89936 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Renal insufficiency, Proteinuria, Renal i... |
ORPHA:85450 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Methylmalonic aciduria |
OMIM:277410 |
Leprechaunism |
|
Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Nephrocalcinosis, Thick vermili... |
ORPHA:508 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine level |
OMIM:171420 |
Cryoglobulinemic Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:91138 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Renal salt wasting |
OMIM:264350 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Thick lower lip verm... |
OMIM:609242 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Macrosc... |
ORPHA:251004 |
Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
Baralle-Macken Syndrome |
|
Kyphosis, Urinary incontinence, High, narrow palate |
OMIM:619255 |
Familial Mediterranean Fever |
|
Proteinuria, Nephrocalcinosis, Nephrotic syndrome, Nephropathy, Oral leukoplakia |
ORPHA:342 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis |
OMIM:614473 |
Wild Type Attr Amyloidosis |
|
Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria |
ORPHA:330001 |
Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Micrognathia, Short neck, Abnormality of the dentition, Wide mouth, High palate, Thi... |
ORPHA:363528 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia, Low urinary cyclic AMP response to PTH administrati... |
OMIM:612462 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Chronic kidney disease, Acute kidney injury, Exercise-in... |
ORPHA:284426 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisovaleric aciduria, Hypoglyc... |
OMIM:210200 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Microscopi... |
OMIM:274150 |
Hawkinsinuria |
|
Hypertyrosinemia, Hawkinsinuria, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria |
OMIM:140350 |
Martin-Probst Syndrome |
|
Renal insufficiency, Proteinuria, Micrognathia, Thick lower lip vermilion, Dental malocclusion, W... |
OMIM:300519 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Renal salt wasting |
OMIM:614736 |
Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Cleft upper l... |
ORPHA:33001 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Biconvex vertebral bodies, Coronal cleft vertebrae, Platyspondyly, Sco... |
OMIM:184260 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Hypoglycemia, Renal steatosis, Fasting hypoglycemia, Impaired gluconeogenesis |
OMIM:261680 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria |
OMIM:207900 |
Codas Syndrome |
|
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Abnormal dental enamel morpho... |
ORPHA:1458 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Cleft palate, High palate, Ever... |
OMIM:619736 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Glossitis, Thin upper lip vermilion, Cystathioninuria, Methylmalonic aciduria, High palate, Stoma... |
OMIM:277380 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Nephrot... |
OMIM:607426 |
Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
Propionic Acidemia |
|
Increased level of hippuric acid in urine, Hyperglycinuria, Hypoglycemia |
OMIM:606054 |
Argininemia |
|
Diaminoaciduria, Oroticaciduria |
OMIM:207800 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Short neck, Stage... |
OMIM:242900 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Minimal change glomerulonephritis, Sho... |
ORPHA:1830 |
Alkaptonuria |
|
Intervertebral disk calcification, Aminoaciduria, Nephrolithiasis |
ORPHA:56 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Micrognathia, Protruding tongue, High, narrow palate, Macroglossia, Albuminuria, Ami... |
OMIM:214100 |
Wagro Syndrome |
|
Mandibular prognathia, Proteinuria, Dental crowding, Micrognathia, Malar flattening, Nephroblastoma |
OMIM:612469 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia, Low urinary cyclic AMP response to PTH administrati... |
OMIM:103580 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Hypoalbuminemia, Scoliosis, Premature loss of teeth, Enamel hyp... |
OMIM:610965 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati... |
OMIM:162000 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Micrognathia, Kyphosis, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Tyrosinemia, Type Ii |
|
Hypertyrosinemia, 4-Hydroxyphenylpyruvic aciduria |
OMIM:276600 |
Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enamel hypoplasia, Generalized aminoaciduria |
ORPHA:289157 |
Ruvalcaba Syndrome |
|
Dental crowding, Kyphosis, Abnormal localization of kidney, Hematuria, Thin vermilion border, Sco... |
ORPHA:3121 |
Harderoporphyria |
|
Increased urinary porphobilinogen, Red urine, Increased circulating ferritin concentration, Incre... |
OMIM:618892 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Increase... |
ORPHA:79644 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Hypoplasia of penis, Abnormal dental enamel morphology, Ope... |
ORPHA:10 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nephrocalcinosis, Enamel hypoplasia, Type I diabetes mellitus |
OMIM:240300 |
Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Increased urine succinate level, Elevated urine fumaric acid level, ... |
OMIM:606812 |
Alkaptonuria |
|
Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, D... |
OMIM:203500 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Ovoid vertebral bodies, Short neck, Kyphosis, Thick lower lip vermilion, Macroglossia,... |
ORPHA:583 |
Pearson Syndrome |
|
Renal insufficiency, Diabetes mellitus, Proteinuria, Lacticaciduria, Renal cyst, Glycosuria, Medi... |
ORPHA:699 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Elevated circulating creatine kinase concentration, Macroglossia, Highly elevated crea... |
OMIM:251900 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami |
OMIM:141300 |
Laron Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypoglycemia, Micrognathia, Tooth agenesis, Micro... |
ORPHA:633 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Scoliosis, Micropenis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis |
OMIM:301900 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Cervical kyphosis, Abnormal dental enamel... |
ORPHA:666 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria |
OMIM:267430 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Stage 5 chronic kidney disease, Intraalveolar phosp... |
OMIM:222700 |
Gaisböck Syndrome |
|
Diabetes mellitus, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circulating reni... |
ORPHA:90041 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Lacticaciduria |
OMIM:618247 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased urinary potassium |
OMIM:611489 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ... |
OMIM:616367 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, 3-Methylglutaric acid... |
OMIM:246450 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Uric acid nephrolithiasi... |
ORPHA:411536 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:488627 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Delayed eruption of... |
OMIM:113000 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:90060 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Hypoalbuminemia, Renal dysplasia, Micrognathia |
OMIM:618183 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Short neck, Heparan sulfate excretion in urine, Kyphosis, Thick lower ... |
OMIM:309900 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Recurrent myoglobinuria, Elevated ci... |
OMIM:620300 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Scorpion Envenomation |
|
Ketonuria, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase M... |
ORPHA:466677 |
Doors Syndrome |
|
Short lingual frenulum, Hemivertebrae, Nephrocalcinosis, Downturned corners of mouth, Widely spac... |
ORPHA:79500 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine, Elevated circulating creatine kinase concentration, Hypoketotic h... |
ORPHA:228305 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Scoliosis, Vesicoureteral ref... |
ORPHA:2484 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Micrognathia, Abnormal t... |
ORPHA:904 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia of the o... |
OMIM:253010 |
Glycogen Storage Disease Vii |
|
Hematuria, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:232800 |
Pure Mitochondrial Myopathy |
|
Lumbar hyperlordosis, Recurrent myoglobinuria, Scoliosis |
ORPHA:254854 |
Nail-Patella Syndrome |
|
Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Glomerulonephritis, Cleft uppe... |
OMIM:161200 |
Sialidosis Type 2 |
|
Nephropathy, Kyphosis |
ORPHA:87876 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:276621 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypoglycemia, Generalized aminoaciduria, Elevated circulating alpha-fetoprotein ... |
OMIM:251880 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Narrow mouth, Renal insufficiency, Long philtrum, Mild proteinuria |
OMIM:619147 |
Pseudoxanthoma Elasticum |
|
Nephrocalcinosis, High palate, Scoliosis |
ORPHA:758 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Hurler-Scheie Syndrome |
|
Micrognathia, Heparan sulfate excretion in urine, Kyphosis, Dermatan sulfate excretion in urine, ... |
OMIM:607015 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Abnormal... |
ORPHA:2916 |
Zttk Syndrome |
|
Polyuria, Unilateral renal agenesis, Abnormality of the dentition, Hypoplasia of the maxilla, Kyp... |
OMIM:617140 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Proteinuria, Kyphosis, Chronic kidney disease, Dental malocclusion, He... |
ORPHA:1855 |
Gaucher Disease Type 1 |
|
Proteinuria, Kyphosis, Hematuria, Gingival bleeding, Vertebral compression fracture |
ORPHA:77259 |
Fabry Disease |
|
Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria |
OMIM:301500 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Abnor... |
ORPHA:90321 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Intraalveolar phospholipid accumulation |
OMIM:615486 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
Williams-Beuren Syndrome |
|
Nephrocalcinosis, Glucose intolerance, Vesicoureteral reflux, Microdontia, Micropenis, Pelvic kid... |
OMIM:194050 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Kyphoscoliosis, Short neck, Hypoplasia of the maxilla, Persistence o... |
ORPHA:2044 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Oliguria, Fasting hypoglycemia, Elevated creatine kinase after exercise, H... |
ORPHA:159 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Oral ulcer, Hematuria, Nephrotic syndrome, Abnormal... |
ORPHA:93552 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Ureteral duplication, Hypoglycemia, Neonatal hypoglycemia, Elevated circul... |
ORPHA:116 |
Glycogen Storage Disease Ia |
|
Proteinuria, Hypoglycemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Fasting hypoglyce... |
OMIM:232200 |
Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Abnormality of the tongue, Urinary urgency, H... |
ORPHA:556 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormal dental morphology, Hyperlordosis, R... |
ORPHA:568 |
Familial Hypoaldosteronism |
|
Decreased urinary potassium, Increased circulating renin level, Proximal renal tubular acidosis, ... |
ORPHA:427 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Late-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Increased circulating renin level |
ORPHA:556037 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a... |
OMIM:619355 |
Nail-Patella Syndrome |
|
Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Abnormality of the kidney, Thi... |
ORPHA:2614 |
Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level |
OMIM:171300 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Lacticaciduria, Elevated urine a... |
OMIM:615751 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, H... |
ORPHA:228308 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Red-brown urine, Stage 5 chronic kidney disea... |
ORPHA:157 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Short neck, Nephrotic syndrome, Focal segmental glomerulosclerosis, Macroglossia, Th... |
OMIM:617303 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Dicarboxylic aciduria, Elevated circulating creatine kinase concentratio... |
OMIM:201475 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... |
OMIM:300718 |
Leigh Syndrome |
|
Hypoglycemia, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubular dy... |
ORPHA:506 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Spinal rigidi... |
ORPHA:352447 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... |
ORPHA:567546 |
Beckwith-Wiedemann Syndrome |
|
Neonatal hypoglycemia, Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Macroglossia, Ves... |
OMIM:130650 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Urinary incontinence, Scoliosis |
OMIM:614409 |
Orotic Aciduria |
|
Hematuria, Oroticaciduria, Orotic acid crystalluria |
OMIM:258900 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Micrognathia, Stage 5 chronic kidney disease, Nephrotic... |
OMIM:617729 |
Early-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Increased circulating renin level |
ORPHA:556030 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Thin upper lip vermilion, Carious teeth, Organic aciduria, High palate, Long philtrum, Smooth phi... |
OMIM:620191 |
Hypocomplementemic Urticarial Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:36412 |
Shwachman-Diamond Syndrome 1 |
|
Nephrocalcinosis, Ovoid vertebral bodies |
OMIM:260400 |
Cystic Fibrosis |
|
Chronic sinusitis, Hypercalciuria |
OMIM:219700 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Majeed Syndrome |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:77297 |
Al Amyloidosis |
|
Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t... |
ORPHA:85443 |
Renal Nutcracker Syndrome |
|
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis |
ORPHA:71273 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglyc... |
ORPHA:71212 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Mild proteinuria |
OMIM:619685 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Renal insufficiency, Hypos... |
ORPHA:261494 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel mor... |
ORPHA:96263 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Abnormality of the philtrum, Micrognathia, Short neck, Kyphosis, Abnormality... |
ORPHA:3409 |
Joubert Syndrome 18 |
|
Kyphoscoliosis, Renal cyst, Horseshoe kidney, Cleft palate, Lobulated tongue, Retrognathia |
OMIM:614815 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Aspartylglucosaminuria, Abnormality of the dentition, Carious teeth, Gingi... |
ORPHA:93 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel mor... |
ORPHA:96264 |
Glycogen Storage Disease Ib |
|
Proteinuria, Hypoglycemia, Nephrolithiasis, Oral ulcer, Focal segmental glomerulosclerosis, Decre... |
OMIM:232220 |
Fucosidosis |
|
Kyphosis, Mucopolysacchariduria, Anterior beaking of lumbar vertebrae, Abnormality of the dentition |
ORPHA:349 |
Hyperlysinemia |
|
Argininuria, Cystinuria, Decreased urine alpha-ketoglutarate concentration, Hyperlysinuria, High ... |
ORPHA:2203 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... |
OMIM:619487 |
Arthrogryposis Multiplex Congenita 5 |
|
Kyphoscoliosis, Micrognathia, Short neck, Scoliosis, Long philtrum, Medullary nephrocalcinosis |
OMIM:618947 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Hyperglycemia, Diabetes mellitus, Glycosuria |
OMIM:600001 |
Glutaric Aciduria Iii |
|
Glutaric aciduria |
OMIM:231690 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Kyphosis, Dental malocclusion, High palate, Scoliosis,... |
ORPHA:2115 |
Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Nephrocalcinosis, Fused cervical vertebrae, Cortical nephrocalcinosis, Medulla... |
ORPHA:51608 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Kyphosis, Premature loss of teeth, Gingival ove... |
ORPHA:137834 |
Adrenal Hypoplasia, Congenital |
|
Renal salt wasting |
OMIM:300200 |
Atypical Werner Syndrome |
|
Renal neoplasm, Diabetes mellitus, Micrognathia, Insulin-resistant diabetes mellitus, Fasting hyp... |
ORPHA:79474 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Downturned corners of mouth, Kyphosis, Urinary incontinence, Scoliosis |
ORPHA:464282 |
Emanuel Syndrome |
|
Broad jaw, Recurrent urinary tract infections, Sacral dimple, Dental crowding, Unilateral renal a... |
OMIM:609029 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria, Kyphosis, Thick lower lip vermilion, Hypoplastic frontal sinuses, Wide mo... |
OMIM:208400 |
Trisomy 8P |
|
Sacral dimple, Short neck, Fetal pyelectasis, Cleft palate, Nephrocalcinosis, Bifid uvula, Thin v... |
ORPHA:264450 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:29072 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Proteinuria, Short neck, Heparan sulfate excretion in urine, Lumbar kyphosi... |
ORPHA:505248 |
Hellp Syndrome |
|
Back pain, Hemoglobinuria, Acute kidney injury, Proteinuria |
ORPHA:244242 |
Hall-Riggs Syndrome |
|
Kyphosis, Thick lower lip vermilion, Microdontia of primary teeth, Irregular vertebral endplates,... |
OMIM:234250 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Everted lower lip vermilio... |
ORPHA:2429 |
3M Syndrome |
|
Delayed eruption of teeth, Hypospadias, Abnormal dental enamel morphology, Hyperlordosis, Short n... |
ORPHA:2616 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Oligodontia, Everted lower lip vermilion, Scoliosis, Anodontia |
ORPHA:276630 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco... |
OMIM:617404 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Kyphoscoliosis, Hypoplasia of the maxilla, Nephrocalcinos... |
OMIM:617402 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Kyphosis, Narrow palate, Short upper lip, Short philtrum, Thick vermilion ... |
ORPHA:364028 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria, Increased circulating ferritin concentration |
OMIM:194380 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp... |
OMIM:618761 |
Diffuse Cutaneous Systemic Sclerosis |
|
Carious teeth, Renal insufficiency, Oliguria |
ORPHA:220393 |
8P Inverted Duplication/Deletion Syndrome |
|
Short neck, Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Abnorm... |
ORPHA:96092 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Vertebral fusion, Hypospadias, Abnormal dental enamel morphology, Abnormali... |
ORPHA:96169 |
Bethlem Myopathy 2 |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis |
OMIM:616471 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Abnormal dental enamel morphology... |
ORPHA:2750 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria, Malar flattening |
OMIM:222448 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Oliguria, Abnormal renal tubule morphology |
ORPHA:188 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Ketonuria, Hypoglycemia |
OMIM:615453 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Sacral dimple, Dental crowding, Unilateral renal agenesis, ... |
ORPHA:96170 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Renal hypop... |
ORPHA:819 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Short neck, Kyphosis, Downturned corners of mouth, Thin vermilion border, Sh... |
ORPHA:2983 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ... |
OMIM:618342 |
Legionnaires Disease |
|
Hematuria, Renal insufficiency, Proteinuria |
ORPHA:549 |
Ck Syndrome |
|
Dental crowding, Micrognathia, Hyperlordosis, Kyphosis, High palate, Scoliosis, Malar flattening,... |
OMIM:300831 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Abnormality of th... |
ORPHA:2315 |
Simple Cryoglobulinemia |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... |
ORPHA:91139 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Hypoglycemia, Hematuria, Focal segmental glomerulosclerosis, St... |
OMIM:232240 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Ectopic kidney, Gingival overgrowth, Horseshoe kidney, Retrognathia, N... |
OMIM:235510 |
Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Hydroureter, Selective tooth agenesis, Persistence of primary teeth, A... |
OMIM:305620 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration, Hypoketotic hypoglycemia |
OMIM:609015 |
Lysinuric Protein Intolerance |
|
Proteinuria, Glomerulonephritis, Ornithinuria, Increased circulating ferritin concentration, Argi... |
ORPHA:470 |
Glutaric Acidemia I |
|
Glutaric aciduria, Ketonuria, Hypoglycemia |
OMIM:231670 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase level in blood |
OMIM:300908 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
OMIM:600175 |
Microscopic Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Sinusitis, Oliguria, Hematuria |
ORPHA:727 |
Floating-Harbor Syndrome |
|
Thin upper lip vermilion, Hypospadias, Kyphoscoliosis, Short neck, Carious teeth, Glandular hypos... |
OMIM:136140 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Dental malocclusion, High palate, Malar flattening, Retrognathia, Homocystinuria, Bifid uvula |
OMIM:601552 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, U-Shaped upper lip vermilion, Natal tooth, Hypospadias, Persistence of pri... |
OMIM:610253 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Urinary incontinence, Micrognathia, Abnormality of the dentition, Kyphosis, Erup... |
ORPHA:476126 |
Imerslund-Gräsbeck Syndrome |
|
Glossitis, Proteinuria, Angular cheilitis |
ORPHA:35858 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Hypoglycemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Recu... |
OMIM:124000 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Kyphosis, Non-midline cleft lip, Cleft p... |
ORPHA:2075 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:255125 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Micropenis, High palate, Short philtrum |
OMIM:615433 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Hypoalbuminemia, Lacticaciduria |
OMIM:613070 |
Fetal Akinesia Deformation Sequence 4 |
|
Micrognathia, Short neck, Kyphosis, High palate, Retrognathia |
OMIM:618393 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Hypospadias, Short neck, Kyphosis, Abnormality of the ur... |
ORPHA:2311 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis |
OMIM:112350 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Sinusitis, Proteinuria, Hematuria, Tubulointerstitial nephritis |
ORPHA:183 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Urinary incontinence, Short neck, Kyphosis, Cleft palate, Downturned corners o... |
OMIM:301041 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Kyphosis, Wide mouth, Polycystic kidney dysplasia, Long philtrum |
OMIM:608776 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Proteinuria, Ectopic kidney, Sh... |
OMIM:122470 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output |
ORPHA:542323 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Proteinuria, Hamartoma of tongue, Cleft upper lip, Carious t... |
OMIM:311200 |
Amish Lethal Microcephaly |
|
Organic aciduria, Cleft soft palate, Micrognathia |
ORPHA:99742 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Elevated circulating creatinine concentration, Acute kidney in... |
OMIM:235400 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Mcdonough Syndrome |
|
Mandibular prognathia, Micrognathia, Open bite, Kyphosis, Dental malocclusion, Short philtrum, Sc... |
ORPHA:2471 |
Winchester Syndrome |
|
Kyphosis, Gingival overgrowth |
OMIM:277950 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Heparan sulfate excretion in urine, Hyp... |
OMIM:253220 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Hypercalciuria |
OMIM:181000 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Short neck, Open bite, Kyphosis, Dental maloccl... |
ORPHA:61 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Increased urinary potassium |
ORPHA:231580 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Glomerular sclerosis, Nephropathy, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:247691 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Proteinuria |
ORPHA:79086 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Lacticaciduria |
OMIM:618250 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Unilateral renal agenesis, Micrognathia, Kyphosis, Deep philtrum, Sh... |
OMIM:619951 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Thin upper lip vermilion |
OMIM:609384 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Platyspondyly, Short philtrum, Dentinogenesis imperfecta |
ORPHA:71267 |
Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, Kyphosis, High, narrow palate, Abnormality of the... |
ORPHA:3378 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thin upper lip vermilion, Proteinuria, Kyphosis, Renal cyst, Nephrotic syndrome, Proximal tubulop... |
OMIM:212065 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy |
ORPHA:1018 |
Hyperoxaluria, Primary, Type Iii |
|
Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
Lassa Fever |
|
Back pain, Oliguria |
ORPHA:99824 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Sacral dimple, Open bite, Abnormality of dental eruption, Dental malocclus... |
ORPHA:1327 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Abnormality of the dentition, Kyphosis, Dental malocclusion, Scoliosis |
ORPHA:1858 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth, Increased insulin like growth factor binding protein acid labile subun... |
OMIM:619489 |
Holocarboxylase Synthetase Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria |
OMIM:253270 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Micrognathia, Wide mouth, Nephroti... |
OMIM:251300 |
Agel Amyloidosis |
|
Tongue atrophy, Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
Holocarboxylase Synthetase Deficiency |
|
Organic aciduria |
ORPHA:79242 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Narrow mouth, Nephrotic syndrome, Focal segmental glomeruloscle... |
OMIM:614748 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Enamel hypoplasia, Low urinary cyclic AMP response to PTH administrati... |
ORPHA:94089 |
Ramon Syndrome |
|
Delayed eruption of teeth, Diabetes mellitus, Abnormal dental enamel morphology, Gingival fibroma... |
ORPHA:3019 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Lacticaciduria |
OMIM:619167 |
Multiple Endocrine Neoplasia, Type Iib |
|
Hyperlordosis, High, narrow palate, Kyphosis, Thick lower lip vermilion, Elevated urinary epineph... |
OMIM:162300 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypospadias, Diastema, Kyphosis, Supernumerary tooth, Agenesis of molar, Scoliosis, Microdontia, ... |
OMIM:619718 |
Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Nephrolithiasis, Abnormal form of... |
ORPHA:2067 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Deep philtrum, Everted lower lip vermilion, Thick vermilion border, Scoliosis |
ORPHA:505652 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Renal tubular acidosis, Organic aciduria |
ORPHA:431361 |
Multiple Endocrine Neoplasia, Type Iia |
|
Elevated urinary vanillylmandelic acid, Elevated urinary epinephrine level, Elevated urinary dopa... |
OMIM:171400 |
Trisomy 20P |
|
Short neck, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners of mouth, Ver... |
ORPHA:261318 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:206549 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Increased urinary potassium |
ORPHA:231625 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology |
OMIM:614227 |
Xeroderma Pigmentosum |
|
Craniofacial hyperostosis, Aminoaciduria, Abnormality of the dentition |
ORPHA:910 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum |
ORPHA:2598 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux |
OMIM:619377 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Homocystinuria |
ORPHA:395 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Oral ulcer, Cheilitis, Hematuria, Abnormal pigmentation of ... |
ORPHA:536 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating ... |
ORPHA:340 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Micrognathia, High palate, Scoliosis, Narrow mouth, Malar flattening, ... |
OMIM:613849 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Micrognathia, Short neck, Kyphosis, Abnormal palate m... |
ORPHA:3082 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mandibular prognathia, Hypospadias, Kyphosis, Thick lower lip vermilion, Wide mouth, Macroglossia... |
OMIM:300354 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... |
ORPHA:2035 |
Sarcoidosis |
|
Renal insufficiency, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Tubulointerstitial nephri... |
ORPHA:797 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury |
ORPHA:423 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Micrognathia, Short neck, Kyphosis, High palate, Scoliosis, Retrognathia |
OMIM:611890 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Tongue fasciculations, Narrow mouth |
OMIM:620007 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Short neck, Hypoplasia of the maxilla, Cleft upper lip, Abnormality of... |
ORPHA:915 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Abnormality of the philtrum, Kyphosis, Scoliosis, Micropenis, Retrognathia... |
OMIM:615547 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Kyphoscoliosis, Dental malocclusion, Irregular vertebral endplates, Pl... |
OMIM:612350 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Myoglobinuria, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:616878 |
Familial Glucocorticoid Deficiency |
|
Recurrent urinary tract infections, Ketotic hypoglycemia, Renal salt wasting, Hypoglycemic seizur... |
ORPHA:361 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ... |
ORPHA:2036 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Kyphosis, Cleft palate, Short philtrum, Scoliosis |
ORPHA:85317 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Micrognathia, Kyphosis, Dilatation of the renal pelvis, Horseshoe kidn... |
ORPHA:314588 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Kyphoscoliosis, Micrognathia, Carious teeth, Insulin resistance, Thin ... |
OMIM:214150 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis |
ORPHA:85288 |
Methylmalonic Aciduria, Cbla Type |
|
Elevated urine 2-methylcitric acid level, Ketonuria, Elevated urine 3-hydroxypropionic acid level... |
OMIM:251100 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Unilateral renal agenesis, Hypoplasia of the ma... |
OMIM:101800 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior... |
OMIM:253200 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Scoliosis, Long philtrum |
OMIM:618825 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis |
OMIM:208500 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Lacticaciduria |
OMIM:615595 |
Marden-Walker Syndrome |
|
Hypospadias, Short neck, Micrognathia, Kyphosis, High, narrow palate, Renal hypoplasia, Cleft pal... |
OMIM:248700 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Abnormality of the kidney, Abnormality of the dentition, Thick lower lip vermilion, ... |
ORPHA:261652 |
Hurler Syndrome |
|
Short neck, Heparan sulfate excretion in urine, Hypoplasia of the odontoid process, Kyphosis, Gin... |
OMIM:607014 |
Glycogen Storage Disease Xii |
|
Hemoglobinuria, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Sh... |
OMIM:611881 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Short neck, Deep philtrum, Uraciluria, High palate, Open mouth, Retrog... |
ORPHA:1675 |
Methylmalonic Aciduria, Cblb Type |
|
Ketonuria, Methylmalonic aciduria |
OMIM:251110 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Abnormality of the kidney, Nephrolithiasis, De... |
ORPHA:521445 |
Carpenter Syndrome 1 |
|
Sacral dimple, Hydroureter, Short neck, Micrognathia, Hypoplasia of the maxilla, Persistence of p... |
OMIM:201000 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Type I diabe... |
ORPHA:181 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Malar prominence, Micrognathia, Kyphosis, Scoliosis, Abnormality of the cervical spine |
ORPHA:48431 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria |
ORPHA:514 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Micrognathia, Open bite, Kyphosis, Carious teeth, Vertebral segmentation defect, Scoliosis, Abnor... |
ORPHA:2617 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Abnormality of the dentition, Kyphosis, Thick lower lip vermilion, Abnormal palate m... |
ORPHA:94065 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Platyspondyly, Scoliosis, Retrognathia, Dentinogenesis imperfecta |
ORPHA:166272 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, Renal tubular acidosis,... |
ORPHA:79240 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Thick lower lip vermilion, Gingival overgrowth, High palate, Bifid uvula |
OMIM:618658 |
Immunoglobulin A Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:761 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Abnormality of the kidney, Micrognathia, Kyphosis, Cleft lip, Spinal canal sten... |
ORPHA:1724 |
Cholera |
|
Decreased urine output, Abnormality of renal excretion, Hypoglycemia, Acute kidney injury |
ORPHA:173 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlordosis, Glutaric aciduri... |
ORPHA:26791 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow |
OMIM:618506 |
Pycnodysostosis |
|
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, Persistence of primary t... |
OMIM:265800 |
Multiple Endocrine Neoplasia Type 1 |
|
Gingival fibromatosis, Hypercalciuria, Nephrolithiasis |
ORPHA:652 |
Pycnodysostosis |
|
Obtuse angle of mandible, Delayed eruption of primary teeth, Hyperlordosis, Micrognathia, Kyphosi... |
ORPHA:763 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Hypoglycemia, Unilateral renal agenesis, Kyphosis, Scoliosis, Cervical ... |
OMIM:617190 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Bladder diverticulum, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Micrognathia, Kyphosis, Shor... |
ORPHA:75840 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Kyphosis, Nephrolithiasis, Glucose intolerance, Biconcave vertebral b... |
OMIM:219090 |
Bardet-Biedl Syndrome 20 |
|
Micropenis, Proteinuria |
OMIM:619471 |
Systemic Sclerosis |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Elevated circula... |
ORPHA:90291 |
Sotos Syndrome |
|
Mandibular prognathia, Abnormality of the kidney, High, narrow palate, Narrow jaw, Narrow palate,... |
OMIM:117550 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:63442 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Micrognathia, Kyphosis, Deep philtrum, Wide mouth, Short philtrum, Thick vermilion border, Scolio... |
OMIM:615834 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth, Glomerulopathy, Insulin resistance, Diabetes mellitus |
ORPHA:2348 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis |
OMIM:615290 |
Coffin-Siris Syndrome 3 |
|
Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick vermilion bord... |
OMIM:614608 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormality of the kidney, Abnormal oral muc... |
ORPHA:289 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Delayed eruption of teeth, Long penis, Nephrolithiasis, Gingival overgrowt... |
OMIM:135500 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Kyphosis |
OMIM:610489 |
Alstrom Syndrome |
|
Renal insufficiency, Abnormality of the dentition, Kyphosis, Insulin-resistant diabetes mellitus,... |
OMIM:203800 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Hydroureter, Micrognathia, Short neck, Protruding tongue, Gin... |
OMIM:259775 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, U-Shaped upper lip vermilion, Renal agenesis, Hypospadias, Kyphoscoliosis,... |
OMIM:301040 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Hypospadias, Kyphosis, Cleft palate, Furrowed tongue, High palate, Sh... |
OMIM:616449 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Renal malrotation, Thick vermilion border, High palate, Short philtrum... |
OMIM:615866 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Webbed penis, Micropenis, Fused th... |
ORPHA:97360 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short neck, Abnormal soft palate morphology,... |
ORPHA:884 |
Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Horseshoe kidney, Cleft palate, Hi... |
OMIM:300867 |
Cockayne Syndrome A |
|
Mandibular prognathia, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Cario... |
OMIM:216400 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the odontoid process,... |
OMIM:272460 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Long penis, Increased urinary 11-deoxycorticosterone level, Re... |
ORPHA:90795 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Short neck, Renal hypoplasia/aplasia, Kyphosis, Micrognathia, H... |
ORPHA:958 |
Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Insulin resist... |
ORPHA:358 |
Micro Syndrome |
|
Hypoplasia of penis, Micrognathia, Kyphosis, Abnormal localization of kidney, High palate, Short ... |
ORPHA:2510 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Dec... |
ORPHA:31826 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Lipodystrophy, Familial Partial, Type 7 |
|
Impaired glucose tolerance, Polyuria, Insulin resistance, Glucose intolerance, Narrow mouth, Type... |
OMIM:606721 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Penoscrotal hypospadias, Hypospadias, Renal salt wasting, Increased circulating renin level, Neon... |
ORPHA:90791 |
Trisomy 9P |
|
Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Impacted tooth, Down... |
ORPHA:236 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Abnormality of the kidney |
ORPHA:2655 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
Developmental And Epileptic Encephalopathy 50 |
|
Renal tubular acidosis, Oroticaciduria |
OMIM:616457 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
Marden-Walker Syndrome |
|
Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Bifid uvula, Abnormal penis morp... |
ORPHA:2461 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Recurrent urinary tract infections, Carious teeth, Widely spaced teeth... |
OMIM:619229 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Hypospadias, Microgna... |
OMIM:619148 |
Lowry-Maclean Syndrome |
|
Hypospadias, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, na... |
ORPHA:2409 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Macroglossia, Thi... |
OMIM:614607 |
Holoprosencephaly |
|
Hypoplasia of penis, Median cleft lip, Proteinuria, Bilateral cleft lip, Hypoglycemia, Short neck... |
ORPHA:2162 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Lumbar hyperlordosis, Hyperlordosis, Short neck, Dental malocclusion, ... |
OMIM:612921 |
Cockayne Syndrome B |
|
Mandibular prognathia, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Cario... |
OMIM:133540 |
Lead Poisoning |
|
Renal tubular dysfunction, Tubulointerstitial nephritis, Chronic kidney disease, Delayed eruption... |
ORPHA:330015 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Renal tubular acidosis, Fasting... |
ORPHA:264580 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hemoglobinuria, Anuria, Elevated circulating creatinine concentration, Acute kidney injury |
ORPHA:90038 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... |
ORPHA:1452 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Short neck, Micrognathia, Kyphosis, Cleft lip, Dental malocclusion, Gingival overg... |
OMIM:616894 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... |
ORPHA:2107 |
Kleefstra Syndrome 2 |
|
Kyphosis, Everted lower lip vermilion, Bifid uvula, Scoliosis |
OMIM:617768 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Neurogenic bladder, Dental crowding, Short neck, Micrognathia, Kyphosis, Cleft ... |
OMIM:130720 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr... |
ORPHA:50814 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Multicystic kidney dysplasia, Micrognathia, Long philtrum, Hydronephrosis |
ORPHA:85201 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Prominent median palatal r... |
OMIM:300602 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... |
OMIM:225500 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over... |
ORPHA:420561 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Micrognathia, Persistence of primary teeth, A... |
ORPHA:2785 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Micrognathia, Kyphosis, Short philtrum, Scoliosis, Narrow mouth, Retrognathia |
ORPHA:352490 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... |
ORPHA:192 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Short neck, Micrognathia, Kyphosis, High, narrow palate, Hemive... |
ORPHA:7 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly, Abnormality of the kidney |
ORPHA:93274 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Aneurysm Of Sinus Of Valsalva |
|
Oliguria |
ORPHA:1054 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia, Short neck |
OMIM:612463 |
Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Gingival overgrowth, Hypoplastic vertebral bodies, Abnormality of the urina... |
OMIM:230500 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Proteinuria, Cleft palate, Oligodontia, Scoliosis, Narrow mouth, Long p... |
ORPHA:1272 |
Melas |
|
Diabetes mellitus, Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Type II... |
ORPHA:550 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat... |
ORPHA:2712 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Generalized aminoaciduria, Scoliosis |
ORPHA:404454 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Elevated circulat... |
ORPHA:900 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Dental crowding, Carious teeth, Kyphosis, Downturned corners of mouth, Thin vermilio... |
OMIM:617602 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Proteinuria, Elevated hemoglobin A1c, Micrognathia, Intra-oral hyperpigmentation, Focal segmental... |
OMIM:619127 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Urinary incontinence, Scoliosis |
ORPHA:88644 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Short neck, Kyphosis, Narrow mouth... |
ORPHA:77301 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Hyperlordosis, Carious teeth, ... |
OMIM:190350 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis |
OMIM:300676 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Kyphoscoliosis, Micrognathia, Grayish enamel, High, narrow palate, Sup... |
ORPHA:2980 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated circulating creatine kinase concentration, Kyphoscoliosis, Kyphosis, Thick vermilion bor... |
OMIM:300280 |
Acute Adrenal Insufficiency |
|
Renal insufficiency, Hypoglycemia, Decreased urinary potassium, Renal salt wasting, Increased cir... |
ORPHA:95409 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom... |
OMIM:200990 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
High palate, Scoliosis, Persistence of primary teeth |
OMIM:147060 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Abnormal dental enamel morphology, Scoliosis |
ORPHA:816 |
Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Recurrent aphthous stomatitis |
ORPHA:728 |
Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Thick lower lip vermilion, Hematuria, Nephrotic... |
ORPHA:324 |
Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
Zimmermann-Laband Syndrome 2 |
|
Short neck, Kyphosis, Deep philtrum, Gingival overgrowth, Macroglossia, Thick vermilion border |
OMIM:616455 |
Hypomelanosis Of Ito |
|
Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Scoliosis |
OMIM:300337 |
Gaucher Disease Type 3 |
|
Hematuria, Proteinuria |
ORPHA:77261 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Scoliosis, Hypoplastic philtrum |
OMIM:616682 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Recurrent urinary tract infections, Sacral dimple, Cleft upper lip, Kyphosis, C... |
OMIM:610443 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Diabetes mellitus, Oliguria, Acute kidney injury, Nephrotic range proteinuria, Decreased ... |
ORPHA:544482 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Hypospadias, Micrognathia, Kyphosis, High palate, Short philtrum, Malar flattening |
OMIM:609944 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Abnormality of the urinary system, Scoliosis |
ORPHA:702 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Kyphoscoliosis, Abnormal form of the vertebral bodies, Scoliosis, Long... |
ORPHA:263463 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Enamel hypoplasia, Low urinary cyclic AMP response to PTH administrati... |
ORPHA:79444 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Micrognathia, Cleft palate, P... |
OMIM:247200 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Kyphosis, Widely spaced primary teeth, ... |
ORPHA:90322 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Micrognathia, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cleft of the upper lip |
ORPHA:77300 |
Citrullinemia, Classic |
|
Oroticaciduria |
OMIM:215700 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity |
OMIM:619351 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Hypoplas... |
OMIM:211380 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Dental crowding, Micrognat... |
OMIM:300373 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Natal tooth, Hydroureter, Distal urethral duplication, Ectopic kidney, Cleft upp... |
OMIM:146510 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition |
ORPHA:289494 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth |
OMIM:619356 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Cleft p... |
ORPHA:2635 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Neuroleptic Malignant Syndrome |
|
Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentration, Myoglobinu... |
ORPHA:94093 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Short neck, Micrognathia, Orofacial cleft, Downturned co... |
OMIM:180700 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Ureteral stenosis, Anterior concavity of tho... |
OMIM:309350 |
Osteoglosphonic Dysplasia |
|
Micrognathia, Abnormal form of the vertebral bodies, Tooth agenesis, Multiple unerupted teeth, Sc... |
ORPHA:2645 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, Hyperlordosis, High, narrow palate, Submucous cleft hard... |
ORPHA:2780 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Exaggerated cupid's bow, Kyphosis, Narrow mouth, Abnormal mandible morphology, Cleft palate, Down... |
ORPHA:2215 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Dentinogenesis imperfecta, Scoliosis |
OMIM:259440 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... |
OMIM:233450 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis |
OMIM:618392 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Kyphosis, Scoliosis |
OMIM:300861 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... |
OMIM:269300 |
19P13.12 Microdeletion Syndrome |
|
Hypospadias, Short neck, Kyphosis, Cleft palate, Thin vermilion border, Hypodontia, Scoliosis, Lo... |
ORPHA:254346 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis |
OMIM:313420 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Hypoplas... |
ORPHA:1782 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Kyphosis, Abnormal fo... |
ORPHA:2050 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia |
OMIM:614450 |
Beta-Ketothiolase Deficiency |
|
Hyperglycemia, Ketonuria, Hypoglycemia |
ORPHA:134 |
Cranioectodermal Dysplasia 1 |
|
Renal magnesium wasting, High, narrow palate, Chronic kidney disease, Stage 5 chronic kidney dise... |
OMIM:218330 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Renal hypoplasia, Renal cyst, Cle... |
OMIM:616300 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Micrognathia, Hyperlordosis, Kyphosis, High, narrow palate, Scoliosis, Mildly ele... |
ORPHA:536516 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ketonuria, Hypoglycemia, Elevated circulating creatine kinase concentration, Hypoglycemic seizures |
ORPHA:480864 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
Myofibrillar Myopathy 10 |
|
Mandibular prognathia, Kyphosis, Elevated circulating creatine kinase concentration |
OMIM:619040 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Short neck, Open bite, Kyphosis, Thick lower lip vermilion, Wide mouth, High... |
ORPHA:85293 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Ectopic k... |
ORPHA:2136 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... |
OMIM:170390 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Hyperlordosis, Carious teeth, Kyphosis, Craniofacial osteosclerosis, A... |
ORPHA:1328 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ma... |
OMIM:606612 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... |
ORPHA:90068 |
Subaortic Stenosis-Short Stature Syndrome |
|
Micrognathia, Short neck, Kyphosis, Type II diabetes mellitus, Scoliosis, Microdontia |
ORPHA:3191 |
Liver Disease, Severe Congenital |
|
Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetoprotein concentra... |
OMIM:619991 |
Momo Syndrome |
|
Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Taurodonti... |
OMIM:157980 |
Rhizomelic Syndrome, Urbach Type |
|
Micrognathia, Short neck, Kyphosis, Abnormality of the tongue, Abnormal form of the vertebral bod... |
ORPHA:3098 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Advanced er... |
ORPHA:818 |
Crisponi Syndrome |
|
Micrognathia, Kyphosis, High palate, Scoliosis, Narrow mouth, Long philtrum |
ORPHA:1545 |
Wieacker-Wolff Syndrome |
|
Hyperlordosis, Micrognathia, Kyphosis, Short neck, High palate, Broad alveolar ridges, Scoliosis,... |
OMIM:314580 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Hyperlordosis, Hypoplasia of the maxilla, Kyphosis, Short neck... |
ORPHA:1798 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Lujo Hemorrhagic Fever |
|
Renal insufficiency, Microscopic hematuria, Oliguria, Elevated circulating C-reactive protein con... |
ORPHA:319213 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downt... |
ORPHA:1507 |
Gapo Syndrome |
|
Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Scoliosis, Long p... |
OMIM:230740 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, High palate, Scoliosis, Short neck |
ORPHA:178148 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Micrognathia, Microphallus, Hype... |
OMIM:612651 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... |
ORPHA:369950 |
Kawasaki Disease |
|
Glossitis, Proteinuria, Cheilitis, Sterile pyuria |
ORPHA:2331 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Membranoproliferative glomerulonephritis, Proteinuria... |
ORPHA:48435 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis |
ORPHA:1875 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Scoliosis |
OMIM:252605 |
Flynn-Aird Syndrome |
|
Carious teeth, Kyphosis, Type II diabetes mellitus, Scoliosis |
ORPHA:2047 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Abnormal form of ... |
ORPHA:3238 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis |
OMIM:618237 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short neck, Micrognathia, Kyphosis, Cleft palate, Scoliosis, ... |
ORPHA:140 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal dental morphology, Hypospadias, Abnormal dental enamel morphology, Micrognathia, Kyphosi... |
ORPHA:85199 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Renal salt wasting, Abnormal urine potassium concentration, Hypernatriuria... |
ORPHA:168558 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Hypospadias, Exaggerated cupid's bow, Kyphosis... |
ORPHA:464738 |
Opitz Gbbb Syndrome |
|
Natal tooth, Hypospadias, Micrognathia, Cleft lip, Cleft palate, Vertebral segmentation defect, A... |
ORPHA:2745 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Neonatal hypoglycemia, Renal salt wasting, Abnormal urine potassium concentration, Hypernatriuria... |
ORPHA:289548 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Oroticaciduria |
OMIM:620358 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Increased intervertebral space, Absent fron... |
OMIM:224300 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Abnormal circulating creatine kinase concentration, Scoliosis |
OMIM:618484 |
4Q21 Microdeletion Syndrome |
|
Short neck, Abnormality of the dentition, Kyphosis, Downturned corners of mouth, Thin vermilion b... |
ORPHA:238750 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Oliguria, Reversible renal failure |
ORPHA:90051 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Spinal ca... |
ORPHA:950 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, High, narrow palate, Scoliosis |
OMIM:618124 |
Short Syndrome |
|
Delayed eruption of teeth, Micrognathia, Insulin resistance, Insulin-resistant diabetes mellitus,... |
OMIM:269880 |
Colchicine Poisoning |
|
Renal insufficiency, Oliguria |
ORPHA:31824 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Oroticaciduria |
OMIM:311250 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Sacrococcygeal teratoma, Hypospadias, Kyphoscoliosis, Short neck, Micr... |
ORPHA:798 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Malar flattening, Scoliosis |
OMIM:130060 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Short neck, Micrognathia, High palate, Pursed... |
ORPHA:800 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... |
OMIM:156530 |
Biotinidase Deficiency |
|
Organic aciduria |
OMIM:253260 |
Char Syndrome |
|
Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v... |
ORPHA:46627 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperinsulinemia, Type II diabetes mellitus, Hyperlordosis |
ORPHA:3085 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Diabetes mellitus, Dental crowding, Micrognathia, Kyphosis, Insulin resistance, Scoliosis, Narrow... |
OMIM:615381 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Thin upper lip vermilion, Hydroureter, Unilateral renal agenesis, Short neck, Kyphosis, Deep phil... |
OMIM:619194 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Kyphosis, High palate, Everted lower lip vermilion, Scoliosis, Narr... |
ORPHA:261349 |
Helsmoortel-Van Der Aa Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Recurrent urinary tract infections, Hyperlordosis, Car... |
OMIM:615873 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Sacral dimple, Hypospadias, Micrognathia, Abnormality of the dentition... |
ORPHA:235 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Tented upper lip vermilion, Diabetes mellitus, Gingival overgrowth, High palate, Moderate albumin... |
OMIM:614231 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Micrognathia, Increased intervertebral space, Hypoplasia of ... |
ORPHA:508533 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Hypospadias, Short neck, Hypoplasia of the maxi... |
OMIM:166250 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Cervical C5/C6 vertebrae f... |
OMIM:101200 |
Momo Syndrome |
|
Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Taurodonti... |
ORPHA:2563 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, High palate, Scoliosis, Hyperlordosis |
OMIM:255200 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Abnormality of the kidney |
ORPHA:1860 |
Stickler Syndrome, Type I |
|
Micrognathia, Kyphosis, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, Platysp... |
OMIM:108300 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Hypoglycemia, Hemolytic-uremic syndrome, Methylma... |
ORPHA:79282 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Posterior wedging of vertebra... |
OMIM:607812 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis |
OMIM:618234 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia, Low urinary cyclic AMP response to PTH administrati... |
ORPHA:79443 |
Marbach-Rustad Progeroid Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Insulin resistance, Eruption failure, Hypodontia... |
OMIM:619322 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Recurrent urinary tract infections, Hypospadias, Dental crowding, Carious teeth, Sup... |
ORPHA:353281 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Sacral dimple, Hypospadias, Micrognathia, Carious teeth, Velopharyngea... |
OMIM:223370 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Supernumerary tooth, High palate, Scoliosis, Persistence of primary teeth |
OMIM:619752 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Increased circulating ferritin concentration, Dilatation of the ... |
OMIM:619534 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis |
ORPHA:319199 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Micrognathia, Kyphosis, Cleft palate, Glossoptosis, Short hard palate |
ORPHA:1393 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Platyspondyly, Lumbar hyperlordosis, Urinary incontinence |
OMIM:616482 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Thick lower lip vermilion, Hors... |
ORPHA:1465 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Insulin resistance, Hypoglycemia, Micrognathia |
ORPHA:73272 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Hypospadias, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar fl... |
OMIM:123790 |
Cdags Syndrome |
|
Hypospadias, Rectourethral fistula, Kyphosis, Cleft palate, Malar flattening |
OMIM:603116 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Kyphosis, Scoliosis |
ORPHA:1883 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Micrognathia, Hyperlordosis, Kyph... |
OMIM:618443 |
Diastrophic Dysplasia |
|
Micrognathia, Kyphosis, Abnormal form of the vertebral bodies, Cleft palate, Scoliosis, Hypoplast... |
ORPHA:628 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Elevated circulating creatine kinase concentration, Spi... |
OMIM:615084 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Short neck, Renal hypoplasia, Lobulated tongu... |
OMIM:269860 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Micrognathia, Oliguria, Stage 5 chronic ... |
ORPHA:731 |
Typical Nemaline Myopathy |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho... |
ORPHA:171436 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia |
ORPHA:447896 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Dental crowding, Micrognathia, Kyphosis, Oligodontia, High palate, Shor... |
OMIM:617061 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Pitt-Hopkins Syndrome |
|
Short neck, Tooth malposition, Wide mouth, Thick vermilion border, Short philtrum, Scoliosis, Fai... |
ORPHA:2896 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Micrognathia, Kyphosis, Deep philtrum, Cleft palate, Downturned corners... |
ORPHA:404440 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, 3-Methylglutaric aciduria, Ketonuria, Recurrent hypoglycemia |
ORPHA:20 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Kyphosis, Thick lower lip vermilion, Gingival overgrowth, Abnormal for... |
ORPHA:3219 |
15Q14 Microdeletion Syndrome |
|
Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, Long philtrum, S... |
ORPHA:261190 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Hypospadias, Thoracolumbar scoliosis, Short neck, Micrognathia, Kyphosis, Dental malocclusion, Cl... |
OMIM:265000 |
Addison Disease |
|
Hypoglycemia, Decreased urinary potassium, Renal salt wasting, Increased circulating renin level,... |
ORPHA:85138 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Cleft palate, Short philtrum, Advanced erupt... |
ORPHA:949 |
Cleidocranial Dysplasia 1 |
|
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, Kyphosis, High, narrow p... |
OMIM:119600 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia |
OMIM:614381 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Microscopic hematuria, Micrognathia, Supernumerary toot... |
OMIM:619525 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth... |
ORPHA:2063 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent ... |
ORPHA:2250 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Urinary retention, Mildly elevated creatine kinase, Decreased urinary... |
ORPHA:79102 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Kyphosis, Abnormal ... |
ORPHA:2769 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:3454 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Absent frontal sinuses, Open... |
ORPHA:955 |
Lysosomal Acid Lipase Deficiency |
|
Hypernatriuria, Abnormal urine potassium concentration, Renal salt wasting |
ORPHA:275761 |
Eiken Syndrome |
|
Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee... |
OMIM:600002 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Hypospadias, Dental crowding, Kyphoscoliosis, Ectopic kidney, Kyphosis, Th... |
ORPHA:3063 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, High, narrow palate, Scoliosis |
ORPHA:2181 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Carious teeth, K... |
ORPHA:90324 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Delayed eruption of teeth, Cleft lip, Thick lower lip vermilion, Cl... |
OMIM:280000 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Dental crowding, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Hi... |
ORPHA:2789 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
Ruvalcaba Syndrome |
|
Kyphosis, Dental crowding, Scoliosis |
OMIM:180870 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth |
ORPHA:99811 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ... |
OMIM:617865 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Widely spaced teeth, Urinary retention, Dental crowding, Delayed eruption of primary teeth |
OMIM:617799 |
Desbuquois Dysplasia 1 |
|
Microretrognathia, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Narrow mouth, M... |
OMIM:251450 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ... |
ORPHA:3353 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elevated circulating creatine kinase concentration |
OMIM:618138 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
3-Methylglutaconic aciduria, Scoliosis, Ethylmalonic aciduria, Aciduria |
OMIM:203700 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Pollakisuria, Kyphosis, Urinary incontinence, Enuresis nocturna |
ORPHA:171629 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Tented upper lip vermilion, Kyphosis, Macroglossia, Everted lower lip verm... |
ORPHA:261144 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Dental crowding, Spinal rigidity, Micrognathia, Kyphosis, High palate, Scolio... |
OMIM:620351 |
Poland Syndrome |
|
Duplicated collecting system, Diabetes mellitus, Hypospadias, Renal hypoplasia/aplasia, Short nec... |
ORPHA:2911 |
Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Hydroureter, Hypospadias, Ect... |
OMIM:135900 |
Arthrogryposis, Distal, Type 5 |
|
Kyphosis, High palate, Scoliosis |
OMIM:108145 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Micrognathia, Hyperlordosis, High, narrow palate, Supernum... |
OMIM:234100 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Cleft palate, Gingivitis, Scoliosis |
ORPHA:2314 |
Gaucher Disease |
|
Hematuria, Proteinuria, Gingival bleeding, Elevated circulating C-reactive protein concentration |
ORPHA:355 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Micrognathia, Kyphosis, Hemivertebrae, ... |
ORPHA:2062 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Epispadias, Supernumerary toot... |
OMIM:615948 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Dental crowding, Micrognathia, Kyphosis, High palate, Thick vermilion border, Scoliosis, Micropenis |
OMIM:619005 |
Meckel Syndrome, Type 1 |
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Hypoplasia of the bladder, Thin upper lip vermilion, Natal tooth, Renal agenesis, Short neck, Mic... |
OMIM:249000 |
Orofaciodigital Syndrome Iii |
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Kyphosis, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Lenz-Majewski Hyperostotic Dwarfism |
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Abnormal penis morphology, Mandibular prognathia, Hypospadias, Abnormal dental enamel morphology,... |
ORPHA:2658 |
Osteogenesis Imperfecta, Type Iii |
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Micrognathia, Kyphosis, Scoliosis, Biconcave vertebral bodies, Dentinogenesis imperfecta |
OMIM:259420 |
Yellow Fever |
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Low back pain, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, E... |
ORPHA:99829 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... |
OMIM:618727 |
Smith-Mccort Dysplasia 1 |
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Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Hypoplastic f... |
OMIM:607326 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypertyrosinemia, Increased urinary glycerol, Ketonuria, Elevated circulating alpha-fetoprotein c... |
ORPHA:247598 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
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Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r... |
OMIM:218400 |
Specc1L-Related Hypertelorism Syndrome |
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Ectopic kidney, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtru... |
ORPHA:1519 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o... |
ORPHA:93314 |
Wolf-Hirschhorn Syndrome |
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Sacral dimple, Hypospadias, Abnormality of the kidney, Abnormality of the philtrum, Cleft upper l... |
ORPHA:280 |
Adnp Syndrome |
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Thin upper lip vermilion, Recurrent urinary tract infections, Urinary incontinence, Thick lower l... |
ORPHA:404448 |
Mend Syndrome |
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Microretrognathia, Sacral dimple, Micrognathia, Kyphosis, High palate, Crossed fused renal ectopi... |
OMIM:300960 |
Spastic Paraplegia 53, Autosomal Recessive |
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Kyphosis |
OMIM:614898 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Kyphosis, Dilatation of the renal pelvis, Absent uvula, Micrognathia |
OMIM:619708 |
Otopalatodigital Syndrome, Type I |
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Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted teeth, Scoliosi... |
OMIM:311300 |
Apert Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte... |
ORPHA:87 |
Charge Syndrome |
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Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Hemivertebrae, Horse... |
ORPHA:138 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
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Sacral dimple, Micrognathia, Kyphosis, Scoliosis, Spina bifida occulta |
OMIM:618291 |
Osteopetrosis, Autosomal Recessive 2 |
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Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth |
OMIM:259710 |
Sponastrime Dysplasia |
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Mandibular prognathia, Obtuse angle of mandible, Lumbar hyperlordosis, Hypospadias, Kyphoscoliosi... |
ORPHA:93357 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Hypospadias, Unilateral renal agenesis, Kyphosis, Renal cyst, Scoliosis, Micropenis, Pelvic kidne... |
ORPHA:464311 |
Acromegaly |
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Mandibular prognathia, Broad jaw, Diabetes mellitus, Dysuria, Abnormality of the dentition, Kypho... |
ORPHA:963 |
Bent Bone Dysplasia Syndrome 1 |
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Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia |
OMIM:614592 |
Cleft Palate, Deafness, And Oligodontia |
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No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Natal tooth, Hamartoma of tongue, Micrognathia, Short neck, Cleft lip, Cleft palate, Micropenis |
OMIM:617925 |
Ullrich Congenital Muscular Dystrophy 1 |
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Spinal rigidity, Kyphosis, High palate, Scoliosis, Mildly elevated creatine kinase |
OMIM:254090 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Back pain, Elevated circulating creatine kinase concentration, Hyperlordosis, Short neck, Kyphosi... |
ORPHA:98863 |
Vitamin D-Dependent Rickets, Type 2A |
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Delayed eruption of teeth, Enamel hypoplasia, Carious teeth |
OMIM:277440 |
Occipital Horn Syndrome |
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Decreased circulating ceruloplasmin concentration, Ureteral obstruction, Kyphosis, Bladder divert... |
OMIM:304150 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Back pain, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Ky... |
ORPHA:98855 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Neonatal hypoglycemia, Renal salt wasting, Long penis, Elevated urinary epinephrine level, Hypern... |
ORPHA:90794 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Natal tooth, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Dental c... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Natal tooth, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Dental c... |
ORPHA:353277 |
Bruck Syndrome 1 |
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Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging |
OMIM:259450 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
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Natal tooth, Micrognathia |
OMIM:617802 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
Microphthalmia, Syndromic 2 |
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Delayed eruption of teeth, Hypospadias, Persistence of primary teeth, Supernumerary tooth, Submuc... |
OMIM:300166 |
Ameloonychohypohidrotic Syndrome |
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Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Trichothiodystrophy 3, Photosensitive |
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Carious teeth, Natal tooth, Eclabion |
OMIM:616395 |
Srd5A3-Cdg |
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Kyphosis, Abnormal sacrum morphology, Oligodontia |
ORPHA:324737 |
Developmental Malformations-Deafness-Dystonia Syndrome |
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Macroglossia, Kyphosis, Orofacial cleft, Scoliosis |
ORPHA:79107 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Kyphosis, Urinary incontinence, Scoliosis |
OMIM:619482 |
Cohen Syndrome |
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Macrodontia, Aplasia/Hypoplasia of the tongue, Micrognathia, Hypoplasia of the maxilla, Kyphosis,... |
ORPHA:193 |
Rothmund-Thomson Syndrome, Type 2 |
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Mandibular prognathia, Delayed eruption of teeth, Kyphoscoliosis, Micrognathia, Supernumerary too... |
OMIM:268400 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
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Delayed eruption of teeth, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Gingival over... |
OMIM:259600 |
Pelger-Huet Anomaly |
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Kyphosis, Abnormality of the dentition, Median cleft palate, Gingival overgrowth |
OMIM:169400 |
Stickler Syndrome |
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Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Cleft upper... |
ORPHA:828 |
Prader-Willi Syndrome |
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Thin upper lip vermilion, Carious teeth, Kyphosis, Hyperinsulinemia, Downturned corners of mouth,... |
OMIM:176270 |
Atypical Rett Syndrome |
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Kyphosis, Scoliosis |
ORPHA:3095 |
Cole-Carpenter Syndrome 2 |
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Microretrognathia, Kyphosis, Platyspondyly, High palate, Dentinogenesis imperfecta |
OMIM:616294 |
Cornelia De Lange Syndrome |
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Delayed eruption of teeth, Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia... |
ORPHA:199 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
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Kyphosis, Micropenis, Scoliosis |
ORPHA:500055 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Hypospadias, Unilateral renal agenesis, Kyphosis, Renal cyst, Scoliosis, Micropenis, Pelvic kidne... |
ORPHA:464306 |
Emery-Dreifuss Muscular Dystrophy |
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Back pain, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Ky... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Back pain, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Ky... |
ORPHA:98853 |
Gm1 Gangliosidosis |
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Mandibular prognathia, Hyperlordosis, Kyphosis, Gingival overgrowth, Abnormal form of the vertebr... |
ORPHA:354 |
Orofaciodigital Syndrome Type 2 |
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Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Teebi Hypertelorism Syndrome 1 |
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Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Long philtrum |
OMIM:145420 |
Pachyonychia Congenita |
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Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia |
ORPHA:2309 |
Brachyolmia Type 3 |
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Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Premature Aging Syndrome, Penttinen Type |
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Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Thin vermili... |
OMIM:601812 |
Somatomammotropinoma |
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Mandibular prognathia, Broad jaw, Diabetes mellitus, Dysuria, Abnormality of the dentition, Kypho... |
ORPHA:314769 |
Marfanoid Habitus With Situs Inversus |
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Mandibular prognathia, Kyphosis, Scoliosis |
OMIM:609008 |
Marinesco-Sjogren Syndrome |
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Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis |
OMIM:248800 |
Focal Dermal Hypoplasia |
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Delayed eruption of teeth, Ureteral duplication, Cleft upper lip, Spina bifida occulta, Dental ma... |
OMIM:305600 |
Sotos Syndrome |
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Ureteral duplication, Renal insufficiency, Sacrococcygeal teratoma, Hypospadias, Abnormality of t... |
ORPHA:821 |
Barber-Say Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... |
OMIM:209885 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Mandibular prognathia, Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, High palate, Malar flatten... |
ORPHA:457359 |
Crimean-Congo Hemorrhagic Fever |
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Proteinuria, Elevated circulating creatine kinase concentration, Hematuria, Gingival bleeding, Pa... |
ORPHA:99827 |
16Q24.3 Microdeletion Syndrome |
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Micrognathia, Kyphosis, Wide mouth, Thick vermilion border, High palate, Scoliosis, Long philtrum... |
ORPHA:261250 |
Pmm2-Cdg |
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Mandibular prognathia, Thin upper lip vermilion, Proteinuria, Kyphoscoliosis, Insulin resistance,... |
ORPHA:79318 |
Restrictive Dermopathy 1 |
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Ureteral duplication, Natal tooth, Hypospadias, Kyphoscoliosis, Micrognathia, Submucous cleft har... |
OMIM:275210 |
Cowden Syndrome 5 |
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Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scoliosis, Narro... |
OMIM:615108 |
Megalocornea-Intellectual Disability Syndrome |
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Micrognathia, Kyphosis, High palate, Short philtrum, Scoliosis, Everted lower lip vermilion, Open... |
ORPHA:2479 |
Wiedemann-Rautenstrauch Syndrome |
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Wide penis, Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum, Vesicouret... |
ORPHA:3455 |
Recon Progeroid Syndrome |
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Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio... |
OMIM:620370 |
Exercise-Induced Malignant Hyperthermia |
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Acute kidney injury, Oliguria, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Delayed eruption of teeth, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular ... |
OMIM:143095 |
Magel2-Related Prader-Willi-Like Syndrome |
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Thin upper lip vermilion, Kyphosis, Downturned corners of mouth, Type II diabetes mellitus, Scoli... |
ORPHA:398069 |
Weismann-Netter Syndrome |
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Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Rothmund-Thomson Syndrome |
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Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali... |
ORPHA:2909 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
Codas Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the odontoid process, Coronal cleft vertebrae, Lumbar sc... |
OMIM:600373 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
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Natal tooth, Oligodontia, Hypodontia |
OMIM:601345 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Cowden Syndrome 6 |
|
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scoliosis, Narro... |
OMIM:615109 |
Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyph... |
OMIM:223800 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Abnormal dental enamel morphology, Scoliosis |
ORPHA:1005 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Sacral dimple, Hypospadias, Abnormal dental morphology, Hyper... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Sacral dimple, Hypospadias, Abnormal dental morphology, Hyper... |
ORPHA:363958 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Thin upper lip vermilion, Sacral dimple, Delayed eruption of teeth, Dental... |
OMIM:619503 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Orofaci... |
ORPHA:464 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Long uvula, Diabetes mellitus, Kyphoscoliosis, Micrognathia, K... |
ORPHA:536532 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Recurrent urinary tract infections, Sacral dimple, Hypospadias, Cleft soft palate, Unilateral ren... |
ORPHA:268261 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Kyphoscoliosis, Narrow mouth, High palate, Small, conical teeth |
ORPHA:2962 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Kyphosis, High palate, Short philtrum, Long... |
OMIM:619244 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Short neck, Micrognathia, Long penis, Hypopl... |
OMIM:264090 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Immunodeficiency 49 |
|
Natal tooth, Short philtrum, Micrognathia |
OMIM:617237 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Kyphoscoliosis, Conical tooth, Hemivertebrae, Oligodontia, Hypodontia |
OMIM:308300 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... |
ORPHA:15 |
Restrictive Dermopathy |
|
Ureteral duplication, Thoracic kyphoscoliosis, Natal tooth, Hypospadias, Micrognathia, Submucous ... |
ORPHA:1662 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... |
OMIM:177170 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Insulin resistance |
ORPHA:199276 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Gingival overgrowth, Alveolar ridge overgrowth, Widely spaced teeth, S... |
OMIM:301072 |
Cowden Syndrome |
|
Abnormal penis morphology, Abnormality of the kidney, Kyphosis, Furrowed tongue, Macroglossia, Re... |
ORPHA:201 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Oral mucosal blisters, Renal tubular epithelial necrosis, Hem... |
ORPHA:95455 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Kyphosis, Short neck, ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Kyphosis, Short neck, ... |
ORPHA:99228 |
Monosomy X |
|
High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Kyphosis, Short neck, ... |
ORPHA:99226 |
Turner Syndrome |
|
High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney, Kyphosis, Short neck, ... |
ORPHA:881 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... |
ORPHA:93360 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Advanced eruption of teeth, Insulin resistance, Diabetes mellitus, Micrognathia |
ORPHA:280365 |
Marshall-Smith Syndrome |
|
Microretrognathia, Eclabion, Thoracic scoliosis, Prominence of the premaxilla, Irregular dentitio... |
OMIM:602535 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Multicystic kidney dysplasia, Micrognathia, Scoliosis, Micropenis, Hyd... |
OMIM:606170 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Persistence of primary teeth |
OMIM:619769 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Short philtrum, Cleft palate |
OMIM:617337 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Cowden Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scoliosis, Narro... |
OMIM:158350 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Kyphosis, Deep philtrum, Cleft palate, Downturned corners of mouth, Ver... |
ORPHA:251014 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Kyphosis |
OMIM:619909 |
Rett Syndrome |
|
Kyphosis, Scoliosis, Abnormality of the dentition |
OMIM:312750 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ... |
ORPHA:261537 |
Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Sinusitis, Diabetes mellitus, Carious teeth, Oral ulcer, Hypoamylasemi... |
ORPHA:811 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Lumbar scoliosis, Scoliosis |
OMIM:609128 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Widely spaced te... |
ORPHA:2152 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Sclerotic vertebral body, Kyphosis, Craniofacial osteosclerosis, Plat... |
OMIM:618476 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Triangular mouth, Scoliosis |
OMIM:617988 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Renal agenesis, Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the paroti... |
OMIM:149730 |
Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario... |
ORPHA:221016 |
Atelis Syndrome 2 |
|
Sacral dimple, Micrognathia, Diastema, Kyphosis, Thick lower lip vermilion, Hyperinsulinemia, Dow... |
OMIM:620185 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth... |
ORPHA:2108 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Tongue atrophy, Tongue fasciculations, Scoliosis |
OMIM:211530 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Microretrognathia, Thin upper lip vermilion, Sacral dimple, Short neck, Kyphosis, High, narrow pa... |
OMIM:300966 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Thin upper lip vermilion, Hypospadias, Kyphosis, High, narrow palate, Short uvula, Abn... |
OMIM:619475 |
Ramon Syndrome |
|
Delayed eruption of teeth, Kyphosis, Gingival fibromatosis, Narrow palate, Scoliosis |
OMIM:266270 |
Noonan Syndrome 14 |
|
Short neck, Kyphosis, High, narrow palate, Wide mouth, Thick vermilion border, Long philtrum |
OMIM:619745 |
Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Angular cheilitis |
OMIM:167210 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Mandibular prognathia, Kyphosis, Thick vermilion border, Scoliosis |
OMIM:618493 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly, Malar... |
OMIM:271700 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario... |
ORPHA:221008 |
Postencephalitic Parkinsonism |
|
Kyphosis, Open mouth, Camptocormia |
ORPHA:97349 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Micrognathia,... |
OMIM:249420 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Scoliosis |
OMIM:609541 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ... |
ORPHA:261552 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Hypoglycemia, Micrognathia, Malar flattening, Hyperglycemia |
OMIM:220111 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Hypospadias, Cleft upper lip, Micrognathia, Kyphosis, Abnormal f... |
OMIM:194190 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormal dental e... |
ORPHA:2273 |
Pallister-Hall Syndrome |
|
Microretrognathia, Natal tooth, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Accessory... |
ORPHA:672 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Kyphosis, High, narrow palate, Bladder diverticulum, Platyspo... |
ORPHA:198 |
Odontomicronychial Dysplasia |
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Premature eruption of permanent teeth |
OMIM:601319 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
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Kyphosis, Thoracic scoliosis |
OMIM:603387 |
Blomstrand Lethal Chondrodysplasia |
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Natal tooth, Protruding tongue, Micrognathia, Platyspondyly, Long philtrum, Malar flattening |
ORPHA:50945 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
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Kyphosis, Scoliosis |
OMIM:617143 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Kyphosis, High palate, High, narrow palate, Scoliosis |
OMIM:177850 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Tented upper lip vermilion, Micrognathia, Kyphosis, High palate, Long philtrum, Smooth philtrum |
OMIM:617527 |
Osteogenesis Imperfecta, Type Viii |
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Kyphosis, Platyspondyly, Scoliosis, Vertebral compression fracture, Dentinogenesis imperfecta |
OMIM:610915 |
Plaa-Associated Neurodevelopmental Disorder |
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Tented upper lip vermilion, Micrognathia, Kyphosis, High palate, Long philtrum, Smooth philtrum |
ORPHA:521426 |
Chromosome Xq26.3 Duplication Syndrome |
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Kyphosis, Widely spaced teeth |
OMIM:300942 |
Holt-Oram Syndrome |
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Kyphosis, Scoliosis |
ORPHA:392 |
Branchiooculofacial Syndrome |
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Renal agenesis, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Cleft upper lip, ... |
OMIM:113620 |
Barber-Say Syndrome |
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Delayed eruption of teeth, Wide mouth |
ORPHA:1231 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Branchial cyst, Thin upper lip vermilion, Thoracic scoliosis, Natal tooth, Micrognathia, Carious ... |
OMIM:620186 |
Alexander Disease |
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Diabetes mellitus, Hyperlordosis, Short neck, Kyphosis, High palate, Scoliosis |
ORPHA:58 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Hypospadias, Abnormality of the kidney, Submucous cleft hard palate, C... |
OMIM:235730 |
1P36 Deletion Syndrome |
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Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Kyphosis, Spinal canal stenosis, Ren... |
ORPHA:1606 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
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Kyphosis, Retrognathia, High palate, High, narrow palate |
OMIM:616914 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Kyphosis, Scoliosis |
ORPHA:88628 |
Weaver Syndrome |
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Mandibular prognathia, Kyphosis, Scoliosis, Long philtrum, Retrognathia |
OMIM:277590 |
Cleidocranial Dysplasia 2 |
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Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Wrinkly Skin Syndrome |
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Microretrognathia, Delayed eruption of teeth, Carious teeth, Kyphosis, High palate, Scoliosis, Lo... |
OMIM:278250 |
Cardiofacioneurodevelopmental Syndrome |
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Kyphosis, Cleft lip, Cleft palate, Micrognathia |
OMIM:619123 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Short neck, Kyphosis, Cleft lip, Hemivertebrae, Narrow palate, Cleft palate, Scoliosis |
OMIM:618223 |
Hutchinson-Gilford Progeria Syndrome |
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Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... |
ORPHA:740 |
Epidermolysis Bullosa, Lethal Acantholytic |
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Natal tooth |
OMIM:609638 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
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Downturned corners of mouth, Kyphosis, Thin upper lip vermilion, Scoliosis |
OMIM:619557 |
Familial Adenomatous Polyposis 1 |
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Eruption failure, Supernumerary tooth, Carious teeth, Odontoma |
OMIM:175100 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Dental crowding, Kyphoscoliosis, High, narrow palate, Kyphosis, Wide mouth, Short philtrum, Widel... |
OMIM:300967 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
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Thin upper lip vermilion, Kyphosis, High palate, Scoliosis, Narrow mouth |
OMIM:618050 |
Fgfr2-Related Bent Bone Dysplasia |
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Natal tooth, Gingival overgrowth, Micrognathia |
ORPHA:313855 |
Lethal Acantholytic Erosive Disorder |
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Natal tooth, Cleft palate |
ORPHA:158687 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Mandibular prognathia, Hyperlordosis, Kyphosis, High palate, Scoliosis, Malar flattening |
OMIM:617011 |
Mgat2-Cdg |
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Kyphosis, Open mouth, Dental crowding, Scoliosis |
ORPHA:79329 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Rett Syndrome, Congenital Variant |
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Kyphosis, Thin upper lip vermilion, Scoliosis |
OMIM:613454 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Delayed eruption of teeth, Gingival overgrowth |
ORPHA:508542 |
Cono-Spondylar Dysplasia |
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Kyphosis, Scoliosis, Short neck |
ORPHA:420794 |
Coffin-Lowry Syndrome |
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Mandibular prognathia, Kyphosis, Thick lower lip vermilion, Dental malocclusion, Narrow palate, L... |
OMIM:303600 |
Pallister-Killian Syndrome |
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Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Tented upper lip vermilion, H... |
OMIM:601803 |
Proteus Syndrome |
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Abnormal dental enamel morphology, Carious teeth, Kyphosis, Long penis, Renal cyst, Abnormal form... |
ORPHA:744 |
Wrinkly Skin Syndrome |
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Delayed eruption of teeth, Kyphoscoliosis, Carious teeth, High palate, Small, conical teeth, Smoo... |
ORPHA:2834 |
17Q11 Microdeletion Syndrome |
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Kyphosis, Renovascular hypertension, Abnormality of the sphenoid sinus, Abnormality of the verteb... |
ORPHA:97685 |
Acth-Independent Macronodular Adrenal Hyperplasia |
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Kyphosis |
OMIM:219080 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Kyphosis |
OMIM:610475 |
Gardner Syndrome |
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Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition |
ORPHA:79665 |
Familial Adenomatous Polyposis |
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Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Abnormal cementum ... |
ORPHA:733 |
Marfan Syndrome |
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Dental crowding, Micrognathia, Open bite, Kyphosis, High, narrow palate, Abnormal zygomatic bone ... |
ORPHA:558 |
Lymphedema-Distichiasis Syndrome |
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Kyphosis, Cleft palate, Cleft upper lip, Micrognathia |
OMIM:153400 |
Craniosynostosis And Dental Anomalies |
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Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
Neurofibromatosis Type 1 |
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Kyphosis, Scoliosis, Abnormality of the upper urinary tract |
ORPHA:636 |
Classic Homocystinuria |
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Kyphosis, High palate, Dental crowding, Scoliosis |
ORPHA:394 |
Osteoporosis-Pseudoglioma Syndrome |
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Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
Mend Syndrome |
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Sacral dimple, Asymmetry of the mouth, Micrognathia, Kyphosis, Cleft palate, High palate |
ORPHA:401973 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Delayed eruption of primary teeth |
OMIM:300952 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Kyphosis, Short hard palate, Scoliosis |
ORPHA:1969 |
Viss Syndrome |
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Microretrognathia, Cleft soft palate, Micrognathia, Kyphosis, High, narrow palate, Retrognathia, ... |
OMIM:619472 |
Singleton-Merten Syndrome 1 |
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Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Scoliosis, ... |
OMIM:182250 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Carious teeth, Calvarial osteosclerosis, Persistence of primary teeth |
ORPHA:93325 |
Spondyloarthropathy, Susceptibility To, 1 |
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Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Alström Syndrome |
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Thoracic scoliosis, Abnormality of dental color, Urinary incontinence, Functional abnormality of ... |
ORPHA:64 |
Shprintzen Omphalocele Syndrome |
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Kyphosis, Thin vermilion border, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
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Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop... |
ORPHA:3042 |
Autosomal Recessive Malignant Osteopetrosis |
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Delayed eruption of teeth, Premature loss of primary teeth |
ORPHA:667 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Kyphosis, Lumbar hyperlordosis, Thin upper lip vermilion |
ORPHA:2232 |
Triosephosphate Isomerase Deficiency |
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Kyphosis |
OMIM:615512 |
Primrose Syndrome |
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Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Hypoplasia of the maxill... |
OMIM:259050 |
Mucolipidosis Type Ii |
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Kyphosis, Gingival overgrowth |
ORPHA:576 |
Yunis-Varon Syndrome |
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Thin upper lip vermilion, Hypospadias, Anterior concavity of thoracic vertebrae, Premature loss o... |
OMIM:216340 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of the odontoid process, Kyphosis, An... |
OMIM:300106 |