Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... |
OMIM:161900 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hypercholesterolemia |
OMIM:232700 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... |
OMIM:614196 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Coma, Hepatomegaly, Hyperammonemia, Renal insufficiency, Anemia, Nausea and vomiting, Lethargy |
ORPHA:28 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Hemiplegia/hemiparesis, Coma, Pancreatitis, Hyperammonemia, Hepatomega... |
ORPHA:289916 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Coma, Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Feeding difficulties, Abdominal p... |
ORPHA:79312 |
Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Paraparesis, Ataxia, Coma, Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Macrocytic ane... |
ORPHA:27 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Isolated Polycystic Liver Disease |
|
Gastroesophageal reflux, Hepatomegaly, Abdominal pain, Abdominal distention, Multiple renal cysts... |
ORPHA:2924 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:613944 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Gout, Renal ... |
OMIM:162000 |
Nephronophthisis 16 |
|
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... |
OMIM:615382 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Systemic Lupus Erythematosus 16 |
|
Nephritis |
OMIM:614420 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Confusion, Hemiparesis, Paroxysmal lethargy, Choreoathetosis, S... |
OMIM:606777 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... |
OMIM:612925 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia, Occipital encephalocele |
OMIM:617562 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Elevated circulating creatine kinase concentration, Tremor, Incoordination, Spasti... |
OMIM:160120 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Proteinu... |
OMIM:612926 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Confusion, Hemiparesis, Chorea, Choreoa... |
ORPHA:71277 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin, Abdominal distention |
OMIM:174050 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... |
OMIM:256100 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abdominal pain, Abnormality of the kidn... |
ORPHA:85445 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Neonatal death, Tu... |
OMIM:263200 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Hyperlysinuria With Hyperammonemia |
|
Hyperlysinemia, Coma, Hyperammonemia, Hyperlysinuria, Lethargy, Dibasicaminoaciduria |
OMIM:238750 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... |
OMIM:606966 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Abnormal renal physiology, Confusion, Schistocytosis, Tremor, Elev... |
OMIM:274150 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis, Renal cyst, Vascul... |
OMIM:617056 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Hypokalemia, Anorexia, Hepatosplenomegaly, Hemolytic anemia, D... |
OMIM:611590 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Motor stereotypy, Ataxia, Acute hyperammonemia, Coma, Hepatomegaly, Feeding difficulties, Hyperam... |
ORPHA:927 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency, Recu... |
OMIM:615993 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... |
OMIM:619902 |
Encephalopathy, Recurrent, Of Childhood |
|
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordinati... |
OMIM:130950 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Elevated urinary 7-biopterin level, Tremor, Transient hyperphenylalaninemia, Hyperphe... |
OMIM:264070 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Coma, Diarrhea, Hemiparesis, Schistocytosis, Eleva... |
OMIM:235400 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:161950 |
Alport Syndrome |
|
Nephrotic syndrome, Renal glomerular foam cells, Nephritis, Mesangial hypercellularity, Thickenin... |
ORPHA:63 |
Genitopalatocardiac Syndrome |
|
Cleft upper lip, Double outlet right ventricle, Cleft palate, Micrognathia, Hypospadias, Renal cy... |
OMIM:231060 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... |
OMIM:604387 |
Thyrocerebrorenal Syndrome |
|
Nephritis, Myoclonus, Nonprogressive cerebellar ataxia, Renal insufficiency, Thrombocytopenia, Sl... |
ORPHA:3327 |
Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Aredyld Syndrome |
|
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Hepatomegaly, Splenom... |
ORPHA:1133 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Hepatomegaly, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Dyst... |
OMIM:618224 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Ataxia, Bradykinesia, Constipation, Feeding difficulties, Oculogyric crisis, Babinski sign, Parki... |
ORPHA:101150 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Gout, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small m... |
OMIM:603860 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... |
OMIM:266900 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... |
OMIM:145001 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... |
OMIM:618913 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Feeding difficulties, Myoclonus, Spasticity, Dystonia, Lethargy |
OMIM:617829 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Abnormal renal tubule morphology, Proteinuria, Delayed eruption of permanent ... |
ORPHA:839 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Hepatomegaly |
OMIM:614859 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypertonia, Feeding difficulties, Increased lev... |
ORPHA:26792 |
Beaulieu-Boycott-Innes Syndrome |
|
Dental malocclusion, Velopharyngeal insufficiency, Unilateral renal agenesis, Micrognathia, Recur... |
OMIM:613680 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Chronic kidney disease, Nephropathy |
OMIM:602114 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Hepatomegaly, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multip... |
OMIM:613095 |
Citrullinemia Type I |
|
Torticollis, Ataxia, Coma, Gastroesophageal reflux, Feeding difficulties, Hyperammonemia, Hepatic... |
ORPHA:247525 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... |
OMIM:600995 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Action tremor, Nephrotic syndrome, Intention tremor, Myoclonus, Nephropathy, Focal segmental glom... |
OMIM:254900 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Fluctuations in consciousness, Constipation, Abdominal distention, Abdominal pain, Increased eryt... |
ORPHA:100924 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:615703 |
Severe Canavan Disease |
|
Gastroesophageal reflux, Feeding difficulties, Poor suck, Decerebrate rigidity, Babinski sign, Vo... |
ORPHA:314911 |
Lethal Infantile Mitochondrial Myopathy |
|
Fatal liver failure in infancy, Renal insufficiency, Lethargy |
ORPHA:254857 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... |
ORPHA:83451 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Hyperornithinemia, Coma, Hepatomegaly, Spastic paraparesis, Poor coordi... |
OMIM:238970 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Stroke, Nephropathy, Hematuria, Renal cyst, Vascular dilatation, Renal insufficiency, Retinal art... |
OMIM:611773 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Abnormal palate morphology, Abnormality of the dentition, Multicystic kidney dysplasia, Carious t... |
ORPHA:3270 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... |
OMIM:619868 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Nephrolithiasis, Hypoplasia of penis, Hypodontia, Hypospadias, Delayed eruption of teeth |
ORPHA:1816 |
Congenital Sucrase-Isomaltase Deficiency |
|
Diarrhea, Abdominal distention, Vomiting, Abdominal colic |
ORPHA:35122 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... |
ORPHA:477781 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Acute kidney injury, R... |
ORPHA:673 |
Glycine Encephalopathy |
|
Lethargy, Hyperglycinemia, Hyperglycinuria, Myoclonus |
OMIM:605899 |
Developmental And Epileptic Encephalopathy 40 |
|
Feeding difficulties, Myoclonus, Choreoathetosis, Spasticity, Spastic tetraparesis, Lethargy |
OMIM:617065 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Coma, Hyperammonemia, Anorexia, Eczema, Keratoconjunctivitis, Perioral eczema, Organic ac... |
ORPHA:79242 |
Galactosemia |
|
Ataxia, Action tremor, Hepatomegaly, Feeding difficulties, Hepatic failure, Increased level of ga... |
ORPHA:352 |
Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Renal Tubular Dysgenesis |
|
Nephropathy, Renotubular dysgenesis, Multiple renal cysts, Tetralogy of Fallot, Proximal tubulopathy |
ORPHA:3033 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Methylmalonic Aciduria, Cbla Type |
|
Ketonuria, Neutropenia, Coma, Hepatomegaly, Hyperammonemia, Methylmalonic aciduria, Vomiting, Fee... |
OMIM:251100 |
Thomas Syndrome |
|
Cleft upper lip, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Cleft palate |
ORPHA:3316 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
Xanthinuria, Type I |
|
Xanthinuria, Hyperxanthinemia, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis |
OMIM:278300 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Abn... |
ORPHA:567548 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Propionic Acidemia |
|
Neutropenia, Coma, Pancreatitis, Hyperglycinuria, Hyperammonemia, Hepatomegaly, Constipation, Lim... |
OMIM:606054 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Aminoaciduria, Non-acidotic pro... |
ORPHA:1652 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Pancreatitis, Abdominal pain, Anorexia, Vomiting |
ORPHA:313906 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Aminoaciduria, Lacticaciduria, Anorexia, Elevated circulating creatine kinase conce... |
OMIM:619386 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Macroglossia, Everted lower lip vermilion, Malar flattening, Micropenis, Hyp... |
ORPHA:261494 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative glomerulonephritis, E... |
ORPHA:251004 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Ataxia, Hepatomegaly, Feeding difficulties, Hy... |
ORPHA:2394 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glomerular filtration rate, Re... |
ORPHA:85450 |
Lesch-Nyhan Syndrome |
|
Hemiplegia/hemiparesis, Hematuria, Gout, Spasticity, Hyperuricemia, Renal insufficiency, Anemia |
ORPHA:510 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Trehalase Deficiency |
|
Diarrhea, Abdominal distention, Vomiting, Abdominal pain |
ORPHA:103909 |
Typhoid |
|
Hypertonia, Ataxia, Coma, Hepatomegaly, Skin rash, Splenomegaly, Constipation, Abdominal pain, Di... |
ORPHA:99745 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the dentition, Renal cyst, Abnormality of the kidney |
OMIM:615982 |
Early Myoclonic Encephalopathy |
|
Feeding difficulties, Poor suck, Myoclonus, Dysphagia, Lethargy |
ORPHA:1935 |
N-Acetylglutamate Synthase Deficiency |
|
Coma, Hyperammonemia, Confusion, Vomiting, Increased level of L-glutamic acid in blood, Lethargy |
OMIM:237310 |
Carnitine Palmitoyltransferase I Deficiency |
|
Coma, Renal tubular acidosis, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase ... |
OMIM:255120 |
Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Pancreatic cysts |
OMIM:211890 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Kleefstra Syndrome 1 |
|
U-Shaped upper lip vermilion, Persistence of primary teeth, Macroglossia, Everted lower lip vermi... |
OMIM:610253 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Coma, Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Methylmalonic aciduria, Vomiting, H... |
OMIM:251000 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Coma, Confusion, Hemiparesis, Tremor, Drowsiness |
OMIM:141500 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... |
ORPHA:1028 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Herpes simplex encephalitis, Confusion, Hemiparesis, Lethargy |
OMIM:617900 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Renal tubular acidosis, Hepatomegaly, Feeding difficulties, Myoclonus, ... |
OMIM:614922 |
Homocystinuria Without Methylmalonic Aciduria |
|
Ataxia, Vomiting, Lethargy |
ORPHA:622 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine |
OMIM:616868 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Micrognathia, Renal cyst, Renal hypoplasia, Truncus arteriosus |
OMIM:228940 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Nephritis, Myoclonus, Thrombocytopenia, Slurred speech |
OMIM:274240 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... |
OMIM:614669 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hypertonia, Uraciluria, Tetraplegia, Lethargy |
OMIM:274270 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Hyperphenylalaninemia... |
OMIM:233910 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
High palate, Mandibular prognathia, Advanced eruption of teeth, Long penis |
OMIM:262190 |
Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
Central Diabetes Insipidus |
|
Anorexia, Diarrhea, Nocturia, Hyponatremia, Excessive daytime somnolence, Nausea and vomiting, Le... |
ORPHA:178029 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Polycystic ovaries, Advanced eruption of teeth, Hypertr... |
ORPHA:2348 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Dental malocclusion, Wide mouth, Hypoplasia of penis, Malar flattening, Everted lower lip vermili... |
ORPHA:85321 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology |
OMIM:612529 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Hyperlipidemia, Gastroesophageal reflux, Renal tubular atrophy, Hy... |
OMIM:256300 |
Maple Syrup Urine Disease |
|
Hypertonia, Ataxia, Coma, Pancreatitis, Vomiting, Feeding difficulties in infancy, Elevated plasm... |
OMIM:248600 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... |
OMIM:602522 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
Alport Syndrome 3, Autosomal Dominant |
|
Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... |
OMIM:104200 |
Dopa-Responsive Dystonia |
|
Leg dystonia, Constipation, Poor coordination, Abnormality of extrapyramidal motor function, Ocul... |
ORPHA:255 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Lethargy, Poor suck |
OMIM:615026 |
Methylmalonic Aciduria, Cblb Type |
|
Ketonuria, Neutropenia, Coma, Hepatomegaly, Hyperammonemia, Methylmalonic aciduria, Vomiting, Fee... |
OMIM:251110 |
Glucose-Galactose Malabsorption |
|
Nephrolithiasis, Abdominal distention, Diarrhea, Hematuria, Hypernatremia, Vomiting, Renal insuff... |
ORPHA:35710 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Feeding difficulties, Splenomegaly, Rigidity, Recurrent aspiration pneumonia, Spast... |
OMIM:230900 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Decreased liver function, Ataxia, Hepatomegaly, Feeding difficulties, Dystonia, Lethargy |
OMIM:246900 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Thickened glomerular basement membrane, Glomerular basement membrane disruption, Nephritis, Stage... |
OMIM:609057 |
Hereditary Fructose Intolerance |
|
Chronic kidney disease, Hypophosphatemia, Coma, Hepatomegaly, Constipation, Abdominal pain, Abdom... |
ORPHA:469 |
Pediatric Systemic Lupus Erythematosus |
|
Hemiplegia, Discoid lupus rash, Diarrhea, Hematuria, Vomiting, Proteinuria, Microangiopathic hemo... |
ORPHA:93552 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Megaloblastic anemia, Hypomethioninemia, Homocystinuria, Hyperhomocystinemia, Lethargy |
OMIM:236270 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tooth agenesis, Renal hypoplasia/aplasia, Cleft palate, Abnormality of lower lip, Micrognathia, M... |
ORPHA:1166 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Feeding difficulties in infancy, Decreased liver function, Renal cyst, Hepatomegaly |
OMIM:614870 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Dental malocclusion, Velopharyngeal insufficiency, Micropenis, Retrogn... |
ORPHA:363444 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Ataxia, Bradykinesia, Chorea |
OMIM:618683 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Constipation, Rheumatoid arthritis, Hematu... |
ORPHA:49041 |
Multiple Carboxylase Deficiency |
|
Ataxia, Coma, Spastic paraparesis, Hyperammonemia, Skin rash, Feeding difficulties, Organic acidu... |
ORPHA:148 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... |
OMIM:612526 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Tooth agenesis, Midshaft hypospadias, Renal hypoplasia/aplasia, Micrognathia, Delaye... |
ORPHA:2863 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Widely spaced teeth, Dental malocclusion, Malar flattening |
OMIM:616108 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Polyuria, Vomiting, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis, L... |
OMIM:143880 |
Scrub Typhus |
|
Skin rash, Splenomegaly, Abdominal pain, Myocarditis, Anterior uveitis, Tremor, Renal insufficien... |
ORPHA:83317 |
Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency |
ORPHA:1909 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Lower limb hypertonia, Feeding difficulties, Hypo... |
ORPHA:2169 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Nephronophthisis 18 |
|
Hydrocephalus, Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, T... |
OMIM:615862 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Coma, Opisthotonus, Babinski sign, Ab... |
OMIM:607483 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Feeding difficulties, Chorea, Frequent falls, Tremor, Hemiballismus, Nasogastric tube feeding in ... |
ORPHA:494526 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Herpes simplex encephalitis, Confusion, Hemiparesis, Lethargy |
OMIM:613002 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pancreatitis, Hepatomegaly, Gout, Carious teeth, Enlarged kidney, Proteinuria, Hyperuricemia, Pol... |
ORPHA:79259 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hemiplegia/hemiparesis, Coma, Renal tubular acidosis, Hepatomegaly, Hepatic failure, Transient hy... |
ORPHA:156 |
Holocarboxylase Synthetase Deficiency |
|
Hypertonia, Coma, Skin rash, Hyperammonemia, Vomiting, Organic aciduria, Feeding difficulties in ... |
OMIM:253270 |
Mental Retardation, Buenos Aires Type |
|
High palate, Wide mouth, Dental malocclusion, Hypospadias, Abnormality of the urinary system, Car... |
OMIM:249630 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic anemia, Thickened glomerular basement membrane, Proteinuria, Acute ... |
OMIM:615008 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia |
OMIM:609886 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Ataxia, Coma, Hyperammonemia, Episodic ammonia intoxication, Low plasma citrulline, Hypoargininem... |
OMIM:237300 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyc... |
OMIM:207750 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Abdominal distention, Spastic diplegia, Vomiting, Increased mean platelet volume, Feeding difficu... |
OMIM:300048 |
Methylmalonic Acidemia With Homocystinuria |
|
Skin rash, Feeding difficulties, Lethargy |
ORPHA:26 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Cystic renal dysplasia, Hepatomegaly, Truncus arteriosus, Enlarged kidney |
OMIM:615415 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hyperlipidemia, Hepatomegaly, El... |
ORPHA:157 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated... |
OMIM:616828 |
Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth, Hematuria, Vasculitis, Arthritis, Renal insufficiency, Proteinuria,... |
ORPHA:375 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Anorexia, Lethargy |
ORPHA:79283 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Acute hyperammonemia, Coma, Elevated urinary 3-methylcrotonylglycine level, Opisthoton... |
OMIM:210200 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Rubinstein-Taybi Syndrome 2 |
|
High palate, Dental malocclusion, Narrow palate, Retrognathia, Micrognathia, Carious teeth, Incre... |
OMIM:613684 |
Citrullinemia Type Ii |
|
Fluctuations in consciousness, Acute hyperammonemia, Hyperlipidemia, Coma, Pancreatitis, Hypoprot... |
ORPHA:247585 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative ... |
OMIM:619398 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Feeding difficulties in infancy, Ethylmalonic aciduria, Lethargy |
OMIM:201470 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Fechtner syndrome |
|
Nephritis, Neutrophil inclusion bodies, Hematuria, Leukocyte inclusion bodies, Proteinuria, Giant... |
OMIM:153640 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Polycystic kidney dysplasia |
OMIM:263100 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Ataxia, Coma, Hepatomegaly, Hyperammonemia, Elevated circulating creati... |
ORPHA:42 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hyperlipidemia, Hepatomegaly, Hy... |
ORPHA:228308 |
Harrod Syndrome |
|
High palate, Dental malocclusion, Narrow mouth, High, narrow palate, Hypospadias, Renal cortical ... |
OMIM:601095 |
46,Xy Sex Reversal 4 |
|
High palate, Increased blood urea nitrogen, Cleft palate, Micrognathia, Long philtrum, Renal dysp... |
OMIM:154230 |
Endocrine-Cerebroosteodysplasia |
|
Cleft upper lip, Malar flattening, Cleft palate, Micropenis, Micrognathia, Hypospadias, Hyperecho... |
OMIM:612651 |
Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Gingival overgrowth, Dagger-shaped pulp calcifications, Pol... |
OMIM:204690 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Odynophagia, Hemoglobinuria, Glycosuria, Proteinuria, Reduced haptoglobin level, Pancytopenia, He... |
ORPHA:447 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... |
ORPHA:567544 |
Nephronophthisis |
|
Anemia, Renal insufficiency |
ORPHA:655 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Delirium, Hematuria, Tremor, Cystathioninemia, Proteinuria, Hemolytic-uremic syndrome, Hypomethio... |
OMIM:277400 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Kabuki Syndrome 2 |
|
High palate, Dental malocclusion, Hypodontia, Cleft palate, Micrognathia, Coarctation of aorta, L... |
OMIM:300867 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long-chain dicarboxylic aciduria, Hepatomegaly, Elevated circulating long chain fatty acid concen... |
OMIM:608836 |
Glycogen Storage Disease Iv |
|
Hepatosplenomegaly, Tubulointerstitial fibrosis |
OMIM:232500 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia |
OMIM:301200 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Coma, Hyperglycinuria, Opisthotonus, Hyperammonemia, Feeding dif... |
OMIM:210210 |
Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Anterior uveitis, Reversible renal failure, Elevated circulating creatinine concentra... |
OMIM:607665 |
Intestinal Dysmotility Syndrome |
|
Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased intestinal t... |
OMIM:620045 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Transposition of the great arteries, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chronic... |
OMIM:603278 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Dystonia, Abnormality of extrapy... |
OMIM:614561 |
Say Syndrome |
|
Micrognathia, Cystic renal dysplasia, Proximal renal tubular acidosis, Cleft palate |
OMIM:181180 |
Isovaleric Acidemia |
|
Coma, Hyperglycinuria, Leukopenia, Vomiting, Pancytopenia, Thrombocytopenia, Lethargy |
OMIM:243500 |
Systemic Lupus Erythematosus |
|
Nephritis, Leukopenia, Arthritis, Hemolytic anemia, Lupus nephritis, Malar rash, Pericarditis, Th... |
OMIM:152700 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232200 |
Growth Hormone Insensitivity Syndrome |
|
Hypoplasia of penis, Hypercholesterolemia |
ORPHA:181393 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal circulating calcium concentration, Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal ... |
OMIM:213600 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Cleft palate, Bifid tongue, Lobulated tongue, Cleft lip, Renal cyst, Renal hyp... |
OMIM:616300 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... |
ORPHA:449395 |
Hereditary Spherocytosis |
|
Ataxia, Hepatomegaly, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hematopoies... |
ORPHA:822 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane... |
OMIM:205950 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... |
OMIM:125500 |
Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Pyelonephritis, Recurrent urinary tr... |
ORPHA:93110 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Macroglossia, Renal tubular atrophy, Splenomegaly, E... |
OMIM:617303 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Hepatomegaly, Myoclonus, Vomiting, Spasticity, Abnormality of extrapyramidal motor functi... |
OMIM:614299 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Renal cortical cysts, Hepatomegaly, Glycosuria, Neonatal death, Elevated circulating glutaric aci... |
OMIM:231680 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232220 |
Developmental And Epileptic Encephalopathy 41 |
|
Feeding difficulties, Spasticity, Lethargy |
OMIM:617105 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Spastic ataxia, Hypomethioninemia, Methy... |
OMIM:277410 |
Arima Syndrome |
|
Occipital meningocele, Wide mouth, Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Tubuloi... |
OMIM:243910 |
Gapo Syndrome |
|
Eruption failure, Hepatomegaly, High, narrow palate, Prominent scalp veins, Abnormality of the de... |
OMIM:230740 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Natal tooth |
ORPHA:99811 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Neutropenia, Skin rash, Methylmalonic aciduria, Homocystinuria, Hyperhomocy... |
OMIM:277380 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
Acrofacial Dysostosis, Weyers Type |
|
Hypodontia, Abnormality of the dentition, Advanced eruption of teeth, Conical tooth, Solitary med... |
ORPHA:952 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
High palate, Gingival overgrowth, Micrognathia, Short philtrum, Hypospadias, Left ventricular hyp... |
OMIM:619148 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... |
OMIM:617609 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Thick vermilion border, Dental malocclusion, Mandibular prognathia, Natal tooth |
OMIM:601957 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Ataxia, Vomiting, Myoclonus |
OMIM:618225 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Abdominal distention, Hepatomegaly, Feeding difficulties, Hepatic failure, Increased total bilirubin |
OMIM:618528 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Loss of consciousness, Hepatomegaly, Feeding difficulties, Increased C-peptide level, Hypoglycemi... |
ORPHA:276556 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Alpha-Mannosidosis |
|
Dental malocclusion, Gingival overgrowth, Narrow palate, Hepatomegaly, Macroglossia, Open bite, S... |
ORPHA:61 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Feeding difficulties, Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus |
OMIM:616921 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Lead Poisoning |
|
Renal tubular dysfunction, Abdominal cramps, Poor gross motor coordination, Chronic kidney diseas... |
ORPHA:330015 |
Carnitine Deficiency, Systemic Primary |
|
Coma, Hepatomegaly, Hyperammonemia, Confusion, Vomiting, Decreased plasma carnitine, Excessive da... |
OMIM:212140 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Urinary bladder sphincter dysfunction, Babinski sign, Urinary urgency, Spastic paraplegia, Tremor... |
OMIM:600363 |
Wilson Disease |
|
Parkinsonism with favorable response to dopaminergic medication, Hepatomegaly, Hepatic failure, G... |
OMIM:277900 |
Coach Syndrome 3 |
|
Ataxia, Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstit... |
OMIM:619113 |
Citrullinemia, Classic |
|
Ataxia, Oroticaciduria, Coma, Hepatomegaly, Hyperammonemia, Episodic ammonia intoxication, Hypoar... |
OMIM:215700 |
Acute Intermittent Porphyria |
|
Constipation, Diarrhea, Tremor, Urinary retention, Excessive daytime somnolence, Dark urine, Hypo... |
ORPHA:79276 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Nephrolithiasis, Abdominal distention, Recurrent urinary tract infections, Hypoperistalsis, Fetal... |
OMIM:619365 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis, Lethargy |
OMIM:613710 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Joubert Syndrome 16 |
|
Renal cyst, Encephalocele, Nephronophthisis |
OMIM:614465 |
Potocki-Lupski Syndrome |
|
High palate, Wide mouth, Dental malocclusion, Micrognathia, Abnormal renal morphology, Hypocholes... |
OMIM:610883 |
Classic Galactosemia |
|
Ataxia, Action tremor, Clumsiness, Hepatomegaly, Feeding difficulties, Hepatic failure, Diarrhea,... |
ORPHA:79239 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Nephrolithiasis, Hydroureter, Vesicoureteral reflux, Vascular dilatation |
OMIM:617219 |
Tyrosinemia, Type I |
|
Melena, Hypophosphatemic rickets, Paralytic ileus, Hepatomegaly, Splenomegaly, Elevated alpha-fet... |
OMIM:276700 |
Cystathioninuria |
|
Nephrolithiasis, Tremor, Cystathioninemia, Cystathioninuria |
ORPHA:212 |
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss |
|
Dental malocclusion, Malar flattening, Everted lower lip vermilion, Hypospadias, Thick vermilion ... |
OMIM:603463 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Complement Factor I Deficiency |
|
Recurrent skin infections, Recurrent urinary tract infections, Vasculitis, Recurrent sinusitis, R... |
OMIM:610984 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Abnormality of the kidney, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Mulibrey Nanism |
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Dental malocclusion, Hepatomegaly, Hypodontia, Nephroblastoma, Enamel hypoplasia, Hypoplastic fro... |
OMIM:253250 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Poor suck, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Hyp... |
OMIM:261640 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
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Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Acrocephalopolydactyly |
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Hepatosplenomegaly, Protuberant abdomen, Abnormal renal morphology |
ORPHA:221054 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Ataxia, Oroticaciduria, Coma, Abdominal pain, Hyperammonemia, Episodic ammonia intoxication, Low ... |
OMIM:311250 |
Enamel-Renal Syndrome |
|
Abnormal dental enamel morphology, Impaired renal concentrating ability, Gingival overgrowth, Hyp... |
ORPHA:1031 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
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Delayed eruption of teeth, Widely spaced teeth, Patent ductus arteriosus, Hydronephrosis, Thick l... |
OMIM:619797 |
Holzgreve Syndrome |
|
Cleft upper lip, Renal hypoplasia, Cleft palate, Renal agenesis |
OMIM:236110 |
Transcobalamin Ii Deficiency |
|
Ataxia, Methylmalonic aciduria, Diarrhea, Vomiting, Macrocytic anemia, Pancytopenia, Lethargy, Ne... |
OMIM:275350 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abdominal distention, Abdominal pain, Vomiting, Nausea, Chronic diarrhea |
ORPHA:103907 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Urinary urgency, Dystonia |
OMIM:605909 |
Harrod Syndrome |
|
High palate, Dental malocclusion, Narrow mouth, Hypospadias, Multicystic kidney dysplasia |
ORPHA:2115 |
Glycerol Kinase Deficiency |
|
Coma, Episodic vomiting, Increased urinary glycerol, Hypertriglyceridemia, Lethargy, Loss of cons... |
OMIM:307030 |
Uremic Pruritus |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Increased blood urea nitrogen, Rena... |
ORPHA:94059 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Hepatomegaly, Abdominal dis... |
OMIM:619423 |
Immunodeficiency 49 |
|
Inflammatory abnormality of the skin, Micrognathia, Short philtrum, Natal tooth, Pulmonary artery... |
OMIM:617237 |
Hemochromatosis, Type 2A |
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Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Arthritis, Increased se... |
OMIM:602390 |
Spinocerebellar Ataxia Type 20 |
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Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Loss of consciousness, Hepatomegaly, Feeding difficulties, Increased C-peptide level, Hypoglycemi... |
ORPHA:276575 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Dental malocclusion, Microretrognathia, Carious teeth, Renal cyst, Conjunctivitis |
OMIM:615560 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Gastroesophageal reflux, Feeding difficulties, Elevated circulating propionylcarnitine concentrat... |
OMIM:614857 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Constipation, Abdominal distention, Abdominal pain, Malnutrition, Intestinal pseudo-obstr... |
OMIM:613662 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Progressive cerebellar ataxia, Hepatomegaly, Hepatic failure, Feeding difficulties, Poor coordina... |
ORPHA:415 |
Cyclic Vomiting Syndrome |
|
Ataxia, Abdominal pain, Anorexia, Vomiting, Nausea, Gastrointestinal dysmotility, Lethargy |
OMIM:500007 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
Xanthinuria, Type Ii |
|
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... |
OMIM:603592 |
Intellectual Disability, Buenos-Aires Type |
|
High palate, Dental malocclusion, Open bite, Abnormality of dental morphology, Hydronephrosis, Ma... |
ORPHA:3079 |
Rabson-Mendenhall Syndrome |
|
High palate, Gingival overgrowth, Hypokalemia, Macroglossia, Increased C-peptide level, Abnormali... |
ORPHA:769 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Coma, Abnormal circulating fatty-acid concentration, Hepatomegaly, Diar... |
ORPHA:263455 |
Raine Syndrome |
|
High palate, Wide mouth, Gingival overgrowth, Hypophosphatemia, Narrow mouth, Cleft palate, Malar... |
OMIM:259775 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:614034 |
Kleefstra Syndrome Due To A Point Mutation |
|
Abnormality of the dentition, Abnormality of the kidney, Natal tooth, Vesicoureteral reflux, Thic... |
ORPHA:261652 |
Wolman Disease |
|
Abdominal distention, Hepatomegaly, Splenomegaly, Hepatic failure, Malnutrition, Anemia, Bone-mar... |
ORPHA:75233 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, He... |
OMIM:616307 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Vomiting, Letha... |
OMIM:600649 |
Glucose/Galactose Malabsorption |
|
Abdominal distention, Glycosuria, Hyperactive bowel sounds, Chronic diarrhea |
OMIM:606824 |
Colonic Atresia |
|
Abdominal distention |
OMIM:303650 |
Myh9-Related Disease |
|
Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital thrombocytopenia, Increased mean ... |
ORPHA:182050 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Hepatomegaly, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Hypertriglyceridemia, Tre... |
OMIM:615924 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Abdominal distention, Decerebrate rigidity, Babinski sign, Vegetative state, Cholecys... |
ORPHA:309256 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Hyperlipidemia, Abdominal distention, Hepatomegaly, Abnormality of the kidney, Proteinuria |
ORPHA:369 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Abdominal distention, Intention tremor, Decerebrate rigidity, Babinski sign, Vegetati... |
ORPHA:309263 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Otodental Dysplasia |
|
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... |
OMIM:166750 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Dysphagia |
OMIM:615945 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... |
OMIM:203780 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Dental malocclusion, Wide mouth, Enuresis, Hypospadias, Short philtrum, Recurrent urinary tract i... |
OMIM:619293 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... |
ORPHA:2228 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Loss of consciousness, Hepatomegaly, Feeding difficulties, Increased C-peptide level, Hypoglycemi... |
ORPHA:324575 |
Primary Peritoneal Carcinoma |
|
Abdominal distention, Constipation, Abdominal pain, Peritonitis, Nausea and vomiting |
ORPHA:168829 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Constipation, Feeding difficulties, Gastroesoph... |
OMIM:613135 |
Saccharopinuria |
|
Citrullinuria, Hyperlysinemia, Cystinuria, Hyperammonemia, Spastic diplegia, Tremor, Hyperlysinur... |
ORPHA:3124 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Splenomegaly, Hemolytic anemia, Tremor, Choreoathetosis, Reduced haptoglobin level, Retic... |
OMIM:612126 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Choreoathetosis, Hyperalaninemia, Dystonia, Lethargy, Episodic ataxia |
OMIM:312170 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Cleft palate, Micrognathia, Cystic renal dysplasia, Enlarged kidney, Nephroblas... |
OMIM:608022 |
Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hematuria, Tetralogy of Fallot, Ren... |
OMIM:610205 |
Verheij Syndrome |
|
Renal agenesis, Long philtrum, Renal cyst, Renal hypoplasia, Thin upper lip vermilion |
OMIM:615583 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
Dengue Fever |
|
Hepatomegaly, Hypoproteinemia, Skin rash, Abdominal pain, Leukopenia, Diarrhea, Gastrointestinal ... |
ORPHA:99828 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia, Nephropathy, Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
Biotinidase Deficiency |
|
Ataxia, Hepatomegaly, Skin rash, Recurrent skin infections, Splenomegaly, Hyperammonemia, Diarrhe... |
OMIM:253260 |
Fanconi-Bickel Syndrome |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Abdominal distention, Glycosuria, Gener... |
OMIM:227810 |
Glutaric Acidemia Type 3 |
|
Ketonuria, Elevated circulating glutaric acid concentration, Abnormality of circulating enzyme le... |
ORPHA:35706 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... |
ORPHA:2972 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
High palate, Mandibular prognathia, Dental malocclusion |
OMIM:618292 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis, Varicose veins |
OMIM:314300 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Ataxia, Babinski sign, Vomiting, Dysphagia, Dystonia, Lethargy |
OMIM:618226 |
Central Neurocytoma |
|
Ataxia, Coma, Babinski sign, Nausea and vomiting, Lethargy |
ORPHA:73256 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Feeding difficulties, Increased C-peptide level, Hypoglycemic coma, Drowsiness, Let... |
ORPHA:276580 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney, Vascular dilatation |
OMIM:602200 |
Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Bradykinesia, Constipation, Resting tremor |
OMIM:616710 |
Mcdonough Syndrome |
|
Dental malocclusion, Open bite, Micrognathia, Short philtrum, Abnormal palate morphology, Mandibu... |
ORPHA:2471 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation |
OMIM:103200 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Diarrhea 12, With Microvillus Atrophy |
|
Abdominal distention, Vomiting, Dependency on parenteral nutrition, Bronchiectasis, Secretory dia... |
OMIM:619445 |
C3 Glomerulopathy 3 |
|
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:614809 |
Laron Syndrome |
|
Tooth agenesis, Hypoplasia of penis, Micrognathia, Osteoarthritis, Delayed eruption of teeth, Mic... |
ORPHA:633 |
Pallister-Hall Syndrome |
|
Cleft upper lip, Distal urethral duplication, Cleft palate, Micropenis, Hydroureter, Renal dyspla... |
OMIM:146510 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Coma, Hepatomegaly, Vomiting, Decreased plasma carnitine, Medium chain dicarboxy... |
OMIM:201450 |
Fibromatosis, Gingival, With Distinctive Facies |
|
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... |
OMIM:228560 |
Galloway-Mowat Syndrome 7 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:618348 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Hypermanganesemia With Dystonia 1 |
|
Decreased liver function, Bradykinesia, Poor fine motor coordination, Spastic paraparesis, Hepato... |
OMIM:613280 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Constipation, Gastroesophageal reflux, Abnormal renal physiology, ... |
OMIM:223900 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Malan Syndrome |
|
Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o... |
OMIM:614753 |
Auriculocondylar Syndrome 1 |
|
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Anterior open-bite m... |
OMIM:602483 |
Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... |
ORPHA:49042 |
Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... |
OMIM:204650 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis |
ORPHA:1988 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Sulfite Oxidase Deficiency, Isolated |
|
Eczema, Elevated circulating creatine kinase concentration, Delayed eruption of teeth, Decreased ... |
OMIM:272300 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Anorexia, Diarrhea, Thrombocytopenia, Lethargy |
ORPHA:49827 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, 3-Methylglutaconic aciduria, Lethargy, Hypera... |
OMIM:618120 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Bradykinesia, Ankle clonus, Babinski sign, Parkinsonism, Tremor, Spastici... |
ORPHA:521406 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Skin rash, Feeding difficulties, Unilateral renal agenesis, Elevated circul... |
ORPHA:79284 |
Plasminogen Deficiency, Type I |
|
Nephrolithiasis, Gingival overgrowth, Periodontitis, Nephritis, Gingivitis, Decreased level of pl... |
OMIM:217090 |
Argininosuccinic Aciduria |
|
Ataxia, Oroticaciduria, Coma, Aminoaciduria, Hepatomegaly, Hyperammonemia, Episodic ammonia intox... |
OMIM:207900 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Coma, Hepatomegaly, 3-Methylglutaric aciduria, Hyperammonemia, Myoclonus, Vomiting, Organic acidu... |
OMIM:246450 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
Amelogenesis Imperfecta, Type Ih |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... |
OMIM:616221 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Decre... |
ORPHA:470 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Drowsiness, Coma, Lethargy |
ORPHA:276608 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Gastroesophageal reflux, Hyperammonemia, Necrotizing enterocolitis, Elevated circul... |
OMIM:201475 |
Helsmoortel-Van Der Aa Syndrome |
|
Wide mouth, Everted lower lip vermilion, Long philtrum, Advanced eruption of teeth, Widely spaced... |
OMIM:615873 |
Sotos Syndrome |
|
High palate, Narrow palate, High, narrow palate, Otitis media, Abnormality of the kidney, Advance... |
OMIM:117550 |
Opitz Gbbb Syndrome |
|
High palate, Hypodontia, Cleft palate, Micrognathia, Hypospadias, Abnormality of the urinary syst... |
ORPHA:2745 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Micrognathia, Polycystic ovaries, Decreased HDL cholest... |
ORPHA:280365 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Micropenis, Multicystic kidn... |
OMIM:300209 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Dental malocclusion, High, narrow palate |
OMIM:619692 |
Ellis-Van Creveld Syndrome |
|
Cleft upper lip, Abnormality of the alveolar ridges, Hypodontia, Hypospadias, Delayed eruption of... |
OMIM:225500 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Constipation, Vomiting, Abdominal distention, Enterocolitis |
OMIM:142623 |
Meningococcal Meningitis |
|
Elevated circulating C-reactive protein concentration, Skin rash, Projectile vomiting, Anorexia, ... |
ORPHA:33475 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Hepatomegaly |
OMIM:608776 |
Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Feeding difficulties, Episodic vomiting, Renal cyst, ... |
ORPHA:255249 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Micropenis, Elevated circulating creatine kinase concentration, Anencephaly, Renal... |
OMIM:615287 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Hydranencephaly... |
OMIM:236500 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Multiple renal cysts, Cleft palate |
ORPHA:66637 |
Trisomy X |
|
Tremor, Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Constipation, Gastroesophageal reflux, ... |
OMIM:608643 |
Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Abnormal renal collecting system morphology, Branchial fistula, Renal ... |
OMIM:113650 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Hepatomegaly, 3-Methylglutaric aciduria, Diarrhea, Spasticity, Hyperuricemia, Episodic vo... |
ORPHA:20 |
Osteopathia Striata With Cranial Sclerosis |
|
High palate, Cleft upper lip, Dental malocclusion, Paranasal sinus hypoplasia, Cleft palate, Micr... |
OMIM:300373 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... |
ORPHA:2025 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Abdominal distention, Diarrhea, Vomiting, Elevated circul... |
OMIM:608104 |
Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Otitis media with effusion... |
ORPHA:2791 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Intellectual Disability And Myopathy Syndrome |
|
Dental malocclusion, Atopic dermatitis, Incisor macrodontia, Widely-spaced maxillary central inci... |
OMIM:619719 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Neonatal death, Renal dysplasia, Enlarged kidney, Hepatic cysts, Poly... |
OMIM:208540 |
Meckel Syndrome, Type 8 |
|
Abdominal distention, Hyperechogenic kidneys |
OMIM:613885 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
Cockayne Syndrome Type 1 |
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Widely spaced primary teeth, Anodontia, Increased blood urea nitrogen, Hypoplasia of the primary ... |
ORPHA:90321 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Neutropenia in presence of anti-neutropil antibodies, Nephrotic syndrome, Coombs-positive hemolyt... |
OMIM:603909 |
Metachromatic Leukodystrophy, Adult Form |
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Clumsiness, Abdominal distention, Intention tremor, Decerebrate rigidity, Babinski sign, Vegetati... |
ORPHA:309271 |
Paralysis Agitans, Juvenile, Of Hunt |
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Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:168100 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
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High palate, Mandibular prognathia, Dental malocclusion |
OMIM:608931 |
Spinal Muscular Atrophy, Jokela Type |
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Tremor, Fasciculations, Elevated circulating creatine kinase concentration |
OMIM:615048 |
Visceral Myopathy 1 |
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Pancreatitis, Constipation, Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Urinary ret... |
OMIM:155310 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
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