Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
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 |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
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Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hepatomegaly |
OMIM:232700 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Ane... |
OMIM:615285 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Hemiplegia/hemiparesis, Chorea, Thrombocy... |
ORPHA:289916 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Hyperammonemia, Lethargy, Anemia |
ORPHA:28 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Feeding difficulties in infancy, Abdom... |
ORPHA:2924 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... |
OMIM:162000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Anorexia, Abdominal pain, Splenomegaly, T... |
ORPHA:79312 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Macrocytic anemia, Ataxia, Paraparesis, T... |
ORPHA:27 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ataxia, Abnormal pyramidal sign, Feeding difficulties, Abnormality of extrapyramida... |
OMIM:618224 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres... |
OMIM:619491 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ... |
OMIM:606777 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:617562 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Abdominal distention, Renal cyst, Increased total bilirubin |
OMIM:174050 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... |
OMIM:617056 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612926 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Feed... |
OMIM:222748 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Acute hepatitis, Clonus, Protein avoidance, Poor coordination, Abnormal pyramidal s... |
OMIM:238970 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Abdominal pain, Chronic diarrhea, Malnutrit... |
ORPHA:85445 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesi... |
ORPHA:71277 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Elevated urinary 7-biopterin level, Hypertonia, Transient hyperphenylalaninemia, Hyperphe... |
OMIM:264070 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia, Nephritis, Thro... |
ORPHA:3327 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Cleft upper lip, Micrognathia, Renal cyst, Cleft palate, Right aortic arch, Transpos... |
OMIM:231060 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Abnormal dental enamel morphology... |
ORPHA:1133 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enla... |
OMIM:613885 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Distal renal tubular acidosis, Hepatosp... |
OMIM:611590 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Feeding difficulties, Myoclonus, Dystonia, Lethargy, Spasticity |
OMIM:617829 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Delayed eruption of p... |
ORPHA:839 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia |
OMIM:238750 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatitis, Polycysti... |
OMIM:145001 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Megaloblastic anemia, Methylmalonic... |
OMIM:236270 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... |
OMIM:613095 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... |
OMIM:613845 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiati... |
OMIM:263200 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Recurrent otitis... |
OMIM:615993 |
Developmental And Epileptic Encephalopathy 40 |
|
Spastic tetraparesis, Feeding difficulties, Choreoathetosis, Myoclonus, Lethargy, Spasticity |
OMIM:617065 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia, Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Vomiting, Lethargy, M... |
OMIM:143880 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Micrognathia, Carious teeth, Paten... |
OMIM:613680 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dystonia, Elevated circulating acylcarnitine concentration, Feeding difficulties, Hypertonia, Eth... |
ORPHA:26792 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Severe Canavan Disease |
|
Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Babinski sign, Feeding difficulti... |
ORPHA:314911 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... |
OMIM:619868 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob... |
ORPHA:90039 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Multicystic kidney dysplasia, Abnormal palate morphology, Abnormality of the denti... |
ORPHA:3270 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Tremor, Thrombocytopenia, Schistocytosis... |
OMIM:274150 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Fatal liver failure in infancy, Renal insufficiency |
ORPHA:254857 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis |
ORPHA:3033 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Thomas Syndrome |
|
Cleft upper lip, Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia |
ORPHA:3316 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney, Micrognathia |
OMIM:618272 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulatin... |
OMIM:235400 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid conce... |
OMIM:614859 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Nephrolithiasis, Hypodontia |
ORPHA:1816 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation, Depression |
OMIM:103200 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Glycine Encephalopathy 1 |
|
Lethargy, Hyperglycinuria, Hyperglycinemia, Myoclonus |
OMIM:605899 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Proteinuria, Micrognathia, Hematuria, Tubulointerstitial nephritis |
OMIM:616901 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated circulating branched ch... |
ORPHA:2394 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Purple urine, Abdominal pain, Abnormal erythrocyte enzyme level, Abnormal circulati... |
ORPHA:100924 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Renal insufficiency, Hypos... |
ORPHA:261494 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst, Abnormality of the dentition |
OMIM:615982 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Fee... |
OMIM:613135 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Lesch-Nyhan Syndrome |
|
Renal insufficiency, Hemiplegia/hemiparesis, Gout, Hematuria, Hyperuricemia, Spasticity, Anemia |
ORPHA:510 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Urinary urgency, Dystonia |
OMIM:605909 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Abdominal distention, Vomiting, Pancreatitis |
ORPHA:313906 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Feeding difficulties, Aminoaciduria, Myoclonus, Tru... |
OMIM:250620 |
Early Myoclonic Encephalopathy |
|
Feeding difficulties, Myoclonus, Dysphagia, Lethargy, Poor suck |
ORPHA:1935 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Poor appetite, Fee... |
OMIM:606054 |
Trehalase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:103909 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp... |
ORPHA:251004 |
Central Diabetes Insipidus |
|
Hyponatremia, Nausea and vomiting, Anorexia, Diarrhea, Depression, Lethargy, Nocturia |
ORPHA:178029 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Retinal arteriolar tortu... |
OMIM:611773 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... |
OMIM:619386 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, U-Shaped upper lip vermilion, Natal tooth, Hypospadias, Persistence of pri... |
OMIM:610253 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Thyrocerebroretinal Syndrome |
|
Ataxia, Slurred speech, Myoclonus, Nephritis, Thrombocytopenia |
OMIM:274240 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Vomiting, Ataxia |
ORPHA:622 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Vomiting, Increased bl... |
OMIM:617872 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dysph... |
OMIM:233910 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Uraciluria, Hypertonia, Tetraplegia |
OMIM:274270 |
Sandhoff Disease, Adult Form |
|
Dystonia, Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia... |
ORPHA:309169 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries |
ORPHA:90301 |
Meckel Syndrome, Type 9 |
|
Occipital encephalocele, Multicystic kidney dysplasia |
OMIM:614209 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Ataxia, Feeding difficulties, Decreased liver function, D... |
OMIM:246900 |
Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Ataxia, Eczema, Anorexia, Hyperammonemia, Keratoconjunctivitis, Organic acid... |
ORPHA:79242 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Advanced er... |
ORPHA:2348 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Fe... |
ORPHA:97362 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Micrognathia, Abnormality of the dentition, Thick lower... |
ORPHA:85321 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Abd... |
OMIM:256300 |
Citrullinemia Type I |
|
Torticollis, Ataxia, Slurred speech, Hyperammonemia, Feeding difficulties, Ankle clonus, Gastroes... |
ORPHA:247525 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Advanced eruption of teeth, Long penis, High palate |
OMIM:262190 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Urinary incontinence, Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, R... |
OMIM:213600 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bow... |
ORPHA:35710 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Micrognathia, Cleft palate, Tooth agenesis, Abnormal aortic morphology,... |
ORPHA:1166 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly |
ORPHA:75234 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Dystonia, Upper motor neur... |
ORPHA:401901 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Skin rash, Abdominal pain, Tremor, Splenomegal... |
ORPHA:99745 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus |
OMIM:159900 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Anorexia, Elevated circulating C-reactive protein concentration, Hashimoto thy... |
ORPHA:49041 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria, Poor suck |
OMIM:615026 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... |
OMIM:251000 |
Joubert Syndrome 15 |
|
Micropenis, Exencephaly, Nephronophthisis |
OMIM:614464 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Increased mean platelet volume, Feeding difficulties in infancy, A... |
OMIM:300048 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tub... |
ORPHA:79259 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Renal hypoplasia/aplasia, P... |
ORPHA:2863 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Acute hyperammonemia, Ataxia, Poor appetite, Reye syndrome-like episodes, Hyperglut... |
ORPHA:927 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Persistence of primary teeth, Vasculitis, Hemat... |
ORPHA:375 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Skin rash, Feeding difficulties |
ORPHA:26 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... |
OMIM:251100 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Nephronophthisis |
|
Renal insufficiency, Anemia |
ORPHA:655 |
Maple Syrup Urine Disease |
|
Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in... |
OMIM:248600 |
Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Tremor, Depression |
ORPHA:3375 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... |
OMIM:204690 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... |
OMIM:619398 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney... |
ORPHA:469 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:255120 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Oromandibular dys... |
ORPHA:216873 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Feeding difficulties in infancy, Hepatomegaly, Decreased liver function, Renal cyst |
OMIM:614870 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Horseshoe kidney, Coarctation of a... |
OMIM:300867 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
46,Xy Sex Reversal 4 |
|
Micrognathia, Elevated circulating creatinine concentration, Cleft palate, Hydronephrosis, High p... |
OMIM:154230 |
Classic Galactosemia |
|
Speech apraxia, Hepatomegaly, Incoordination, Ataxia, Postural tremor, Abnormal erythrocyte enzym... |
ORPHA:79239 |
Glycogen Storage Disease Iv |
|
Hepatosplenomegaly, Tubulointerstitial fibrosis |
OMIM:232500 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Dental crowding, Micrognathia, Abnormal renal morphology, Dental malocclus... |
OMIM:610883 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Odynophagia, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Lethargy,... |
ORPHA:447 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Depression, Neutropenia, Anemia |
OMIM:602079 |
Malaria |
|
Nausea and vomiting, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubi... |
ORPHA:673 |
Spinocerebellar Ataxia 48 |
|
Dystonia, Ataxia, Urinary incontinence, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, D... |
OMIM:618093 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Feeding difficulties in infancy, T... |
OMIM:251110 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Elevated circulating cr... |
OMIM:608836 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Leukopenia, Vomiting, Nephritis, Abdominal pain, Nephrotic syndrome, Microangiopathic h... |
ORPHA:93552 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... |
OMIM:152700 |
Say Syndrome |
|
Micrognathia, Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia |
OMIM:181180 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubati... |
OMIM:607483 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclero... |
OMIM:232200 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Hemiparesis, Lethargy, Herpes simplex encephalitis |
OMIM:617900 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Feeding difficulties in infancy, Elevated urinary 3-methylcroton... |
OMIM:210200 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Scrub Typhus |
|
Nausea and vomiting, Anterior uveitis, Renal insufficiency, Skin rash, Abdominal pain, Tremor, Sp... |
ORPHA:83317 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Ataxia, Maculopapular exanthema, Spo... |
ORPHA:822 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Nasogastric tube feeding in infancy, Chorea, Feeding difficulties, Hemiballismus, Frequen... |
ORPHA:494526 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Anorexia |
ORPHA:79283 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding difficulties, Renal tubu... |
OMIM:614922 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Hyperglutamatemia, Vomiting, Hyperammonemia |
OMIM:237310 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Ataxia, Protein avoidance, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, ... |
OMIM:237300 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Patent ductus arteriosus |
ORPHA:99811 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental g... |
OMIM:232220 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hypertyrosinemia, Gastrointestinal hemorrhage, Hepatomegaly, Renal insuffi... |
OMIM:276700 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Skin rash, Anorexia, Abdominal pain, Abdominal distentio... |
ORPHA:330015 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Joubert Syndrome 16 |
|
Encephalocele, Renal cyst, Nephronophthisis |
OMIM:614465 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... |
OMIM:231680 |
Coach Syndrome 3 |
|
Renal insufficiency, Ataxia, Oculomotor apraxia, Stage 5 chronic kidney disease, Renal interstiti... |
OMIM:619113 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Feeding difficulties, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Open bite, Splenomegaly, Dental m... |
ORPHA:61 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Nephrotic... |
OMIM:617303 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Patent ductus arteriosus, Thick lower lip vermilion, Widely spaced tee... |
OMIM:619797 |
Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Hemolytic anemia, Chilblains, Rigidity, Splenomegaly, Tremor, Feeding difficulties,... |
OMIM:615010 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Nephroblastoma, Cardiomegaly, Absent frontal sinuses, Hypoplastic ... |
OMIM:253250 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Babinski sign, U... |
OMIM:600363 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Developmental And Epileptic Encephalopathy 41 |
|
Babinski sign, Feeding difficulties, Nephrocalcinosis, Tetraparesis, Lethargy, Spasticity |
OMIM:617105 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Hypospadias, Microgna... |
OMIM:619148 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg... |
OMIM:619365 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Methylmalonic ac... |
OMIM:277410 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Ataxia, Vomiting, Myoclonus, Lethargy, Spasticity |
OMIM:618225 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis, Vascular dilatation |
OMIM:617219 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Ataxia, Elevated cir... |
ORPHA:42 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Cerebral palsy, Seborrheic dermatitis, Hyperglycinuria, Hyperamm... |
OMIM:210210 |
Cystathioninuria |
|
Cystathioninemia, Cystathioninuria, Tremor, Nephrolithiasis |
ORPHA:212 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Holocarboxylase Synthetase Deficiency |
|
Skin rash, Feeding difficulties in infancy, Elevated urinary 3-methylcrotonylglycine level, Hyper... |
OMIM:253270 |
Nephronophthisis 18 |
|
Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointe... |
OMIM:615862 |
Acrocephalopolydactyly |
|
Abnormal renal morphology, Protuberant abdomen, Hepatosplenomegaly |
ORPHA:221054 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy, Paralysis |
OMIM:613710 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Lethargy, Herpes simplex encephalitis |
OMIM:613002 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion, Renal cyst, Conjunctivitis |
OMIM:615560 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam... |
ORPHA:1031 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Dental malocclusion, High palate, Narrow mouth |
ORPHA:2115 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Spastic tetrapares... |
OMIM:605711 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Ataxia, Spastic paraplegia, Renal hypoplasia, Hyperammonemia, Tetraplegia, 3-Methyl... |
ORPHA:254913 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Abdominal dis... |
OMIM:619423 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Fe... |
ORPHA:2169 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea |
ORPHA:103907 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Ataxia, Abdominal pain, Abdominal distention, Gastrointestinal dys... |
OMIM:613662 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Isovaleric Acidemia |
|
Pancytopenia, Hyperglycinuria, Leukopenia, Vomiting, Lethargy, Thrombocytopenia |
OMIM:243500 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se... |
OMIM:602390 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, High palate, H... |
ORPHA:3079 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Diarrhea, Reticulocy... |
OMIM:275350 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Myh9-Related Disease |
|
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Patent ductus arteriosus, Renal h... |
OMIM:616300 |
Saccharopinuria |
|
Citrullinuria, Tremor, Hypercystinemia, Hyperammonemia, Cystinuria, Spastic diplegia, Gait ataxia... |
ORPHA:3124 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, V... |
OMIM:600649 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Glycosuria |
OMIM:606824 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Proteinuria, Elevated circulating C-reactive protein concentratio... |
OMIM:614034 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis,... |
OMIM:277900 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetrapare... |
OMIM:615924 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Feeding d... |
OMIM:614857 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Thin upper lip vermilion, Recurrent urinary tract infections, Hypospadias, Exaggerated cupid's bo... |
OMIM:619293 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... |
OMIM:277400 |
Wolman Disease |
|
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Abdominal distention, Splenomegaly, Ma... |
ORPHA:75233 |
Citrullinemia, Classic |
|
Hepatomegaly, Ataxia, Protein avoidance, Hyperglutaminemia, Hyperammonemia, Episodic ammonia into... |
OMIM:215700 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr... |
OMIM:616307 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Abnormality of the kidney, Abnormality of the dentition, Thick lower lip vermilion, ... |
ORPHA:261652 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Spina Bifida-Hypospadias Syndrome |
|
Hypospadias, Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Hydroureter, Micrognathia, Protruding tongue, Narrow mouth, G... |
OMIM:259775 |
Dystonia 12 |
|
Torticollis, Dystonia, Parkinsonism, Tremor, Depression, Bradykinesia, Dysphagia |
OMIM:128235 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Enlarged ovaries, Dental crowding, Abnormality of the dentition, Long peni... |
ORPHA:769 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia, Dysphagia |
OMIM:615945 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Abdominal distention, Hyperlipidemia |
ORPHA:369 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Wide mouth, Renal... |
OMIM:243910 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Enlarged kidney, Truncus arteriosus, Cystic renal dysplasia, Hepatic cysts |
OMIM:615415 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Ataxia, Abdominal pain, Elevated circulating uracil concentration, Protein avoidance, Hyperglutam... |
OMIM:311250 |
Cyclic Vomiting Syndrome |
|
Ataxia, Anorexia, Abdominal pain, Gastrointestinal dysmotility, Vomiting, Lethargy, Nausea |
OMIM:500007 |
Central Neurocytoma |
|
Nausea and vomiting, Ataxia, Babinski sign, Depression, Lethargy |
ORPHA:73256 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hemiplegia/hemiparesis, Renal tubular acidosis, Transient hyperlipidemia, Lethargy,... |
ORPHA:156 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Constipation, Vomiting, Enterocolitis |
OMIM:142623 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc... |
OMIM:612126 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Hyperala... |
OMIM:312170 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Glutaric Acidemia Type 3 |
|
Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta... |
ORPHA:35706 |
Acute Intermittent Porphyria |
|
Hyponatremia, Nausea and vomiting, Renal insufficiency, Dark urine, Urinary incontinence, Dysuria... |
ORPHA:79276 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Micrognathia, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Cystic renal... |
OMIM:608022 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Nephropathy, Abnormal dental enamel morphology, Hypocalcemia |
ORPHA:2238 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Mcdonough Syndrome |
|
Mandibular prognathia, Micrognathia, Open bite, Dental malocclusion, Short philtrum, Abnormal pal... |
ORPHA:2471 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Incoordination, Skin rash, Megaloblastic anem... |
OMIM:277380 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Malar flattening, Dental malocclusion, Widely spaced teeth |
OMIM:616108 |
Gapo Syndrome |
|
Prominent scalp veins, Hepatomegaly, Micrognathia, Retinal arteriolar tortuosity, High, narrow pa... |
OMIM:230740 |
Joubert Syndrome 18 |
|
Cleft palate, Renal cyst, Horseshoe kidney, Lobulated tongue, Retrognathia |
OMIM:614815 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration, Hypera... |
OMIM:618120 |
Biotinidase Deficiency |
|
Hepatomegaly, Ataxia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding diffic... |
OMIM:253260 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Pyelonephritis, Varicose veins, Nephritis, Renal dysplasia |
OMIM:314300 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Transposition of the great arteries, Persistent left superior vena cava, Hydron... |
OMIM:314390 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, High palate, Dental malocclusion |
OMIM:618292 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Natal tooth, Hydroureter, Distal urethral duplication, Ectopic kidney, Cleft upp... |
OMIM:146510 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Hepatomegaly, Dystonia, Ataxia, Babinski sign, Vomiting, Dysphagia, Lethargy, Episodic vomiting |
OMIM:618226 |
Dengue Fever |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Abdominal pain, Diarrh... |
ORPHA:99828 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Micrognathia, Microphallus, Hype... |
OMIM:612651 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Skin rash, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic acid... |
ORPHA:79284 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hepatomegaly, Lethargy, Sideroblastic anemia, Dysphagia |
OMIM:613561 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Incoordination, Feeding difficulties in infancy, Diarrhea, Elevated circulating creatinine concen... |
OMIM:223900 |
Rubinstein-Taybi Syndrome 2 |
|
Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas... |
OMIM:613684 |
Diarrhea 12, With Microvillus Atrophy |
|
Abdominal distention, Dependency on parenteral nutrition, Bronchiectasis, Secretory diarrhea, Vom... |
OMIM:619445 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Bradykinesia, Ankle clonus,... |
ORPHA:521406 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Nephrolithiasis, Gingivitis, Gingival overgrowth, Periodontitis, ... |
OMIM:217090 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Dystonia, ... |
ORPHA:314632 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Gaba-Transaminase Deficiency |
|
Lethargy, Feeding difficulties |
OMIM:613163 |
Pontocerebellar Hypoplasia, Type 6 |
|
Appendicular spasticity, Lower limb spasticity, Feeding difficulties, Upper limb spasticity, Gast... |
OMIM:611523 |
Laron Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Micrognathia, Osteoarthritis, Tooth agenesis, Mic... |
ORPHA:633 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Dep... |
OMIM:616795 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Speech apraxia, Hepatomegaly, Clonus, Protein avoidance, Oroticaciduria, Poor coordination, Abnor... |
ORPHA:415 |
Femoral-Facial Syndrome |
|
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:1988 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Sulfocysteinuria, Elevated circulating creatine kinase concentration, ... |
OMIM:272300 |
Sotos Syndrome |
|
Mandibular prognathia, Abnormality of the kidney, High, narrow palate, Patent ductus arteriosus, ... |
OMIM:117550 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Dental malocclusion, Atopic dermatitis, Widely-spaced maxillary central... |
OMIM:619719 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Hypermanganesemia, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fin... |
OMIM:613280 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Increased circulati... |
ORPHA:766 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Feeding difficulties in infancy, Di... |
OMIM:608643 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly... |
ORPHA:247585 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Tubular luminal dilatation, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
Trichothiodystrophy 9, Nonphotosensitive |
|
High, narrow palate, Dental malocclusion |
OMIM:619692 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Opitz Gbbb Syndrome |
|
Natal tooth, Enlarged ovaries, Hypospadias, Micrognathia, Cleft lip, Patent ductus arteriosus, Cl... |
ORPHA:2745 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp... |
OMIM:615751 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly |
OMIM:608776 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune ... |
OMIM:603909 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vascular dilatation |
OMIM:602200 |
Verheij Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Renal agenesis, Renal hypoplasia, Renal cyst, Cleft pal... |
OMIM:615583 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyce... |
ORPHA:280365 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Renal malrotation, Branchial fistula, Unilateral renal agenesis, Renal steatosis,... |
OMIM:113650 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Anorexia, Megaloblastic anemia, Diarrhea, Lethargy, Thrombocytopenia |
ORPHA:49827 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... |
OMIM:225500 |
Diaphanospondylodysostosis |
|
Multiple renal cysts, Cleft palate |
ORPHA:66637 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Abdominal distention, Diarrhea, Thrombocytopenia, Elevated circulating creatinine c... |
OMIM:608104 |
Rapid-Onset Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Depression, Bradykinesia, Gait ataxia, ... |
ORPHA:71517 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Ataxia, Abnormal pyramidal sign, Vomiting, Left ventricular hypertrophy, Lethargy |
OMIM:618228 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Hepatomegaly, Renal insufficiency, Proteinuria, Delayed eruption of primar... |
ORPHA:90321 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Depression, Bradykinesia, Constipation, Parkinsonism with favorable res... |
OMIM:616710 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Cleft palate, High palate, Ever... |
OMIM:619736 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Feeding difficulties in infancy, Tremor, Abnormal pyramidal sign, Choreoa... |
ORPHA:765 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin... |
OMIM:201475 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Abnormal pyramidal sign, Neutropenia, Renal cyst, Feeding difficulties, Neph... |
ORPHA:445038 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, High palate, Dental malocclusion |
OMIM:608931 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Dental crowding, Micrognat... |
OMIM:300373 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Renal hypoplasia, Narrow ... |
OMIM:618975 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated ci... |
ORPHA:26791 |
Metachromatic Leukodystrophy, Adult Form |
|
Urinary incontinence, Bowel incontinence, Abdominal distention, Chorea, Babinski sign, Depression... |
ORPHA:309271 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:212140 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... |
OMIM:155310 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Pancreatic cysts, Splenomegaly, Stage 5 chronic kidney disease... |
OMIM:208540 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Abnormal dental morphology, Abnormality of the dentition, Dental malocclusion, Hep... |
ORPHA:210110 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Galactokinase Deficiency |
|
Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol in plasma, Increased level of gal... |
ORPHA:79237 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Thrombocytosis, Anorexia, Spastic hemiparesi... |
ORPHA:20 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition |
ORPHA:1858 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor |
OMIM:610297 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Apathy, Dystonia, Parkinsoni... |
ORPHA:240085 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... |
ORPHA:192 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Feeding difficulties in infancy, Splenom... |
OMIM:257200 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concentration, Tremor, Diarrhea, Renal... |
ORPHA:263455 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:109130 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Depression, Bradykinesia, Apathy, Dystonia, Inertia, Action tremor |
OMIM:606438 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Diarrhea, Le... |
OMIM:618963 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Small intestinal dysmotility, Poor appetite, Abdominal pain, Abdominal distention, Gastrointestin... |
ORPHA:298 |
Glutathionuria |
|
Urinary incontinence, Eczema, Tremor, Dysdiadochokinesis, Constipation, Glutathionuria, Action tr... |
OMIM:231950 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation |
ORPHA:160148 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Hepatomegaly, Median cleft lip, Hamartoma of tongue, Splenomegaly, Patent ductus art... |
OMIM:269860 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dy... |
ORPHA:240103 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:619562 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, 3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Feedi... |
OMIM:613070 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Ataxia, Feeding difficulties in infancy, Protein avoidance, Hyperglutaminemia, Hype... |
OMIM:207900 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Elevated circulating creatine kinase concentration, Tremor, Nasogastric tube feeding in infancy, ... |
ORPHA:90117 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Feeding difficulties in infancy, Abdominal distention, Babinski sign, Gait ... |
ORPHA:309256 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Micrognathia, Gingival overgrowth, Hepatosplenomegaly, Malar flattening |
OMIM:614592 |
Folinic Acid-Responsive Seizures |
|
Ataxia, Spastic tetraparesis, Abdominal distention, Chorea, Hypertonia, Dystonia |
ORPHA:79097 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abdominal distention, Diarrhea, Abnormal renal physiology |
ORPHA:2290 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Poor appetite, Abdominal d... |
OMIM:227810 |
Craniosynostosis 3 |
|
Dental malocclusion |
OMIM:615314 |
Familial Hypoaldosteronism |
|
Hyponatremia, Nausea and vomiting, Renal salt wasting, Decreased urinary potassium, Diarrhea, Hyp... |
ORPHA:427 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Anemi... |
OMIM:246450 |
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 |
Castleman Disease |
|
Nausea and vomiting, Intestinal obstruction, Renal insufficiency, Elevated circulating C-reactive... |
ORPHA:160 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Proteinuria, Minimal change glomerulonephritis, Abdominal distention, Hyperlipidemia... |
ORPHA:1830 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... |
ORPHA:103910 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Leukocytosis,... |
ORPHA:51890 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Increased level of L-fucose in urine, Increased level ... |
OMIM:215600 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... |
OMIM:612736 |
H Syndrome |
|
Hypertriglyceridemia, Psoriasiform dermatitis, Abnormality of the kidney, Cleft upper lip, Gingiv... |
ORPHA:168569 |
Dopamine Beta-Hydroxylase Deficiency |
|
Diarrhea, Elevated urinary dopamine level, Elevated circulating creatinine concentration, Anemia,... |
ORPHA:230 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Ataxia, Reticulocytosi... |
ORPHA:713 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Diarrhea, Vomiting |
ORPHA:30925 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the ... |
OMIM:616367 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... |
OMIM:269300 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Abdominal distention, Hypercalciuria, Gene... |
ORPHA:2088 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Feeding difficulties, Br... |
OMIM:261640 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... |
ORPHA:319218 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Hyperphenylalaninemia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia |
OMIM:261630 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Abdominal distention, Babinski sign, Clumsiness, Progressive gait ataxia, D... |
ORPHA:309263 |
Rhabdoid Tumor |
|
Nausea and vomiting, Renal neoplasm, Cerebral palsy, Hypercalcemia, Poor appetite, Abdominal pain... |
ORPHA:69077 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Hyperglutamatemia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Dy... |
OMIM:620358 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Nasogastric tube feeding in infancy, Gast... |
ORPHA:391417 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, Polycystic kidney dysplasi... |
ORPHA:261290 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Exaggerated cupid's bow, Narrow mouth, Abnormal mandible morphology, Cleft palate, Downturned cor... |
ORPHA:2215 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Dental malocclusion |
OMIM:615541 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy, Sinusitis |
ORPHA:163703 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Depression, Abnormality of extrapyramidal motor funct... |
OMIM:615362 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de... |
OMIM:616331 |
Necrotizing Enterocolitis |
|
Hyponatremia, Abdominal distention, Diarrhea, Peritonitis, Leukocytosis, Bloody diarrhea, Vomitin... |
ORPHA:391673 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hepatomegaly,... |
OMIM:203800 |
Coach Syndrome 1 |
|
Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Stag... |
OMIM:216360 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Anorexia, Thro... |
OMIM:557000 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Feeding difficulties, Decreased circulating free fatty acid level, Lethargy, Increa... |
ORPHA:276556 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Micrognathia, Advanced eruption of teeth, Multicystic kidney dysplasia, Hypo... |
ORPHA:818 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned... |
ORPHA:1327 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Ataxia, Vomiting, Hyperglycinemia, Myoclonus, Abnormality of extrapyramidal motor f... |
OMIM:614299 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Urethral stricture, Recurrent skin infections, Abdominal distention, Urinary... |
ORPHA:79403 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Oligosacchariduria, Macro... |
OMIM:616354 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Aortic root aneurysm, Long ... |
OMIM:145420 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Hydrocephalus, Dilatation of the renal pelvis, Horseshoe kidney, Polyc... |
ORPHA:314588 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Athyreosis |
|
Abdominal distention, Constipation, Feeding difficulties |
ORPHA:95713 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea, Abnormal bl... |
ORPHA:173 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, 2-ethylhydracylic aciduria |
OMIM:610006 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Ren... |
OMIM:236500 |
Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Denta... |
OMIM:616737 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia |
OMIM:614381 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Generalized dystonia, Ataxia, Skin rash, Diarrhea, Chorea, Spastic tetraplegia, Gai... |
OMIM:618321 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Spastic tetraparesis, Elevated circulating acylcarnitine concentration, Babinski sign, An... |
OMIM:615838 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Ketonu... |
ORPHA:247598 |
Meckel Syndrome, Type 1 |
|
Smooth philtrum, Hypoplasia of the bladder, Thin upper lip vermilion, Natal tooth, Renal agenesis... |
OMIM:249000 |
Volvulus Of Midgut |
|
Abdominal distention, Constipation, Neonatal intestinal obstruction |
OMIM:193250 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Lethargy |
OMIM:619064 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Ataxia, Eczema, Abdominal pain, Abdominal distention, Diarrhea, Thyroiditis, D... |
OMIM:212750 |
Urocanic Aciduria |
|
Ataxia, Urocanic aciduria, Abnormal circulating histidine concentration, Gait ataxia, Truncal ata... |
ORPHA:210128 |
Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, Dental malocclusion, High pala... |
OMIM:606232 |
Susac Syndrome |
|
Nausea and vomiting, Gait ataxia, Apathy, Lethargy, Upper motor neuron dysfunction |
ORPHA:838 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Abdominal distention, Thrombocytopenia, Hepatosplenomegaly, Neutropenia, S... |
OMIM:246400 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Hypocal... |
ORPHA:2237 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Immunodeficiency 49 |
|
Natal tooth, Psoriasiform dermatitis, Micrognathia, Pulmonary artery stenosis, Short philtrum |
OMIM:617237 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Proteinuria, Pneumonia, Skin rash, Vasculitis, Chronic kidney disease,... |
ORPHA:1855 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal cerebral vascular morphology, Seborrheic dermatitis, Ovarian serous cystadenoma, Nephrob... |
ORPHA:276280 |
Bor Syndrome |
|
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clef... |
ORPHA:107 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermil... |
OMIM:618342 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hamartoma of tongue, Cleft upper lip, Cleft palate, Polycystic kidney dysplasia, Micropenis, Bifi... |
OMIM:613091 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Gastroparesis, Urinary incontinence, Bowel incontinence, Parkinsonism, Tremor, Rigidity... |
OMIM:618877 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, High palate, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Sepsis In Premature Infants |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal distention, Gastro... |
ORPHA:90051 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:607688 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Prominent superficial veins, Dental malocclusion, High palate, Hypodon... |
OMIM:612350 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp... |
OMIM:618761 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel morphology, Ope... |
ORPHA:10 |
Primary Effusion Lymphoma |
|
Abdominal distention, Abdominal pain |
ORPHA:48686 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Noonan Syndrome 4 |
|
Ureteral duplication, Dental malocclusion, Wide mouth, Thick vermilion border, Hydronephrosis |
OMIM:610733 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Anencephaly, Renal cyst |
OMIM:611561 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Feeding difficulties, Decreased circulating free fatty acid level, Lethargy, Increa... |
ORPHA:276575 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Diastema, Malar flattening, Dental malocclusion, Micrognathia |
ORPHA:436245 |
Senior-Loken Syndrome 4 |
|
Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Recurrent sinusitis, Recurrent otitis media, Juvenile rheumatoid... |
OMIM:607944 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Hyperlipidemia, Ketonuria, Glycosuria |
ORPHA:2089 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Meacham Syndrome |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Horseshoe kidney, Coarctatio... |
OMIM:608978 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentratio... |
OMIM:612953 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... |
ORPHA:251282 |
Specc1L-Related Hypertelorism Syndrome |
|
Ectopic kidney, Patent ductus arteriosus, Orofacial cleft, Thin vermilion border, Everted lower l... |
ORPHA:1519 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic... |
OMIM:617641 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Renal steatosis, Inc... |
ORPHA:412 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP c... |
ORPHA:85443 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spastici... |
OMIM:606159 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Poor appetite, Tremor, Splenomegaly, Diarrhea, Decreased serum zinc, Lethargy |
OMIM:201100 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Hypospadias, Micrognathia, Hypoplasia of the max... |
OMIM:601390 |
Martin-Probst Syndrome |
|
Renal insufficiency, Proteinuria, Micrognathia, Thick lower lip vermilion, Dental malocclusion, W... |
OMIM:300519 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Increa... |
OMIM:614307 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Feeding diffi... |
ORPHA:99657 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Abnormality of the urinary system, Hypertriglyceridemia, Abnormal renal mor... |
OMIM:182290 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Helsmoortel-Van Der Aa Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Recurrent urinary tract infections, Carious teeth, Hig... |
OMIM:615873 |
Hemihyperplasia, Isolated |
|
Nephroblastoma, Myelomeningocele |
OMIM:235000 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Eczema, Cleft palate, Short philtrum, Acne inversa |
OMIM:617337 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Recurrent urinary tract infections, Hypospadias, Dental crowding, Pneumonia, Carious... |
ORPHA:353281 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria, Vomiting, Lethargy |
OMIM:201450 |
Pachyonychia Congenita |
|
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia |
ORPHA:2309 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Hypospadias, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar fl... |
OMIM:123790 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Feeding difficulties, Decreased circulating free fatty acid level, Lethargy, Increa... |
ORPHA:324575 |
Meningococcal Meningitis |
|
Renal insufficiency, Projectile vomiting, Skin rash, Elevated circulating C-reactive protein conc... |
ORPHA:33475 |
Small Bowel Atresia |
|
Abdominal distention, Vomiting, Feeding difficulties |
ORPHA:1201 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Hydroureter, Selective tooth agenesis, Persistence of primary teeth, A... |
OMIM:305620 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tremor, Gait ataxia, Ne... |
OMIM:254900 |
Infantile Liver Failure Syndrome 2 |
|
Acute hepatic failure, Lethargy, Vomiting, Hyperammonemia |
OMIM:616483 |
Localized Scleroderma |
|
Fasciitis, Abnormality of the kidney, Abnormality of the dentition, Vasculitis, Dental malocclusi... |
ORPHA:90289 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Hepatomegaly, Abdominal pain, Abdominal distention, Ileus, Anemia |
ORPHA:83469 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Seckel Syndrome 1 |
|
Hypospadias, Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Cleft ... |
OMIM:210600 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal lymphatic vesse... |
ORPHA:464329 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Bronchiectasis, Keratoconjunctivitis sicca, Rheumatoid arthritis... |
ORPHA:79128 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Micrognathia |
OMIM:617802 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Conjugated hyperbilirubinemia, Abdominal distention, Hyp... |
OMIM:618528 |
Cerebellar-Facial-Dental Syndrome |
|
Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Ascending tubular aorta aneurysm, T... |
ORPHA:444072 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Urinary urgen... |
OMIM:168600 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hip osteoarthritis, Hypodontia |
ORPHA:63442 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Dicarboxylic aciduria, I... |
ORPHA:71212 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Hypospadias, Abnormality of the kidney, Thick lower lip vermilion, Orofacial c... |
OMIM:123450 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration |
OMIM:222765 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration |
OMIM:614862 |
Thyroid Hemiagenesis |
|
Abdominal distention, Constipation |
ORPHA:95719 |
Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Lethargy, Abnormal... |
ORPHA:79230 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Tremor, Nephrotic syndrome, Hypertonia, Nephropathy, Anemia |
ORPHA:1192 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Lethargy |
ORPHA:276608 |
Trichothiodystrophy 3, Photosensitive |
|
Carious teeth, Natal tooth, Eclabion |
OMIM:616395 |
Benign Samaritan Congenital Myopathy |
|
Lethargy, Fasciculations |
ORPHA:324581 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, T... |
OMIM:619980 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxi... |
OMIM:617145 |
Acrocraniofacial Dysostosis |
|
Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia |
ORPHA:949 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Vomiting, Nausea, Depression |
ORPHA:238624 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Lethargy, Feeding difficulties, Increased C-peptide level |
ORPHA:276580 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Fasciculations, Tongue fasciculations... |
ORPHA:276435 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Diminished motivation, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Bab... |
OMIM:615157 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Patent ductus arteriosus, Dental malocclusion, Open mouth |
OMIM:619149 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Poor appetite, Hypocitraturia, Paralysis, Diarrhea, Nephroli... |
ORPHA:18 |
Idiopathic Congenital Hypothyroidism |
|
Feeding difficulties in infancy, Lethargy, Constipation, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, ... |
ORPHA:159 |
Muenke Syndrome |
|
Recurrent otitis media, Malar flattening, High palate, Dental malocclusion |
OMIM:602849 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Lymphangiectasis |
OMIM:602579 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Thin upper lip vermilion, Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating cre... |
OMIM:614376 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation |
OMIM:105805 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Dental crowding, Micrognathia, Persistence of primary teeth, Tooth ... |
ORPHA:97360 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Feeding difficulties in infancy, Lethargy |
OMIM:610498 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Hypospadias, Micrognathia, Hypoplasia of the max... |
OMIM:615546 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, D... |
OMIM:619738 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Hydrocephalus, Polycystic kidney dysplasia |
OMIM:617866 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Hepatomegaly, Abnormal coronary artery course, Seborrheic der... |
ORPHA:488618 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Pericardial lymphangiectasia, Ectopic kidney, Thyroid lymphangiectasia... |
OMIM:235510 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Anemia |
ORPHA:2668 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Unilateral renal agenesis, Hypoplasia of the ma... |
OMIM:101800 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Peritonitis, Constipation, Abdominal pain |
ORPHA:168816 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... |
ORPHA:53351 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Tremor, Dysmetria, Depression, Gait ataxia, Progressive cerebellar ataxia,... |
ORPHA:254881 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Elevated uri... |
OMIM:618049 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Patent ductus arteriosus, Hepatosplenomegaly, Ne... |
ORPHA:505248 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Abnormality of the dentition, Patent ductus arteriosus, Deep phil... |
OMIM:615398 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Aminoaciduria, Polycystic kidney dyspla... |
OMIM:214110 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Renal cyst |
OMIM:603194 |
Formiminoglutamic Aciduria |
|
Anemia, Abnormal concentration of acylcarnitine in the urine, Abnormal circulating histidine conc... |
ORPHA:51208 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Abdominal ... |
OMIM:229600 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Partial anomalous pulmonary venous return, Elevated circulating creatinine c... |
OMIM:617478 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Dental crowding, Micrognathia, Abnormality of the dentition,... |
ORPHA:251028 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Emanuel Syndrome |
|
Broad jaw, Chronic oral candidiasis, Recurrent urinary tract infections, Truncus arteriosus, Dent... |
OMIM:609029 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
Meckel Syndrome, Type 10 |
|
Hypospadias, Cleft palate, Renal cyst, Micropenis, Bifid uvula |
OMIM:614175 |
Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Epispadias, Patent ductus arte... |
OMIM:615948 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Carious teeth, Hypoplasia of teeth, Hypophosphatemic rickets, Medullary nephro... |
OMIM:613312 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Dystonia, Hyperkalemia, Renal hypoplasia, Li... |
OMIM:617595 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Hypodontia |
OMIM:601345 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Torticollis, Elevated carcinoma antigen 125 level, Elevated circulating alph... |
ORPHA:370348 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra |
OMIM:300323 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Renovascular hypertension |
ORPHA:401923 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin conce... |
OMIM:603552 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemi... |
OMIM:278000 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Cleft lip, Patent ductus arteriosus, Dental malocclusion, Gingival overgrowth, Clef... |
OMIM:616894 |
Pycnodysostosis |
|
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... |
ORPHA:763 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, Re... |
OMIM:234100 |
Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Folliculitis, Angular cheilitis |
OMIM:167210 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Rigidity, Splenomegaly, Thrombocytopenia, Feeding difficulties, Hypertonia, Gastroe... |
OMIM:230900 |
Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Patent ductus arteriosus, Ovarian cyst, Stroke, Enlarged kidney |
OMIM:618188 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Renal agenesis, Pate... |
OMIM:220500 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... |
OMIM:615237 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, Hepatomegaly, Elevated circulating creatine kinase concentration, Micro... |
ORPHA:329178 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Cholangitis, Micrognathia,... |
ORPHA:731 |
Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Dental malocclusion, Cleft palate, Bifid ... |
OMIM:616580 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Pancreatic cysts, Splenomegaly, Hepatiti... |
OMIM:610199 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:609015 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Nausea and vomiting, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Anorexia,... |
ORPHA:199299 |
Codas Syndrome |
|
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Abnormal dental enamel morpho... |
ORPHA:1458 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hypospadias, Selective tooth agenesis, Micrognathia, Dental malocclusion, Hypodontia, Micropenis,... |
ORPHA:2959 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Multicystic kidney dysplasia, Hydroureter, Hypoperistalsis, Abdominal disten... |
ORPHA:2241 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr... |
OMIM:607426 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Chronic constipation, ... |
OMIM:618060 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Renal cyst |
OMIM:611134 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Abdominal distention, Megacystis, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Anemia |
ORPHA:100024 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Abnormality of the dentition, Oligod... |
ORPHA:2315 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Cog4-Cdg |
|
Hypercholesterolemia, Hepatosplenomegaly |
ORPHA:263501 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Truncus arteriosus, Dental crowding, Unilateral renal agene... |
ORPHA:96170 |
Zimmermann-Laband Syndrome |
|
Hepatomegaly, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis, Cleft palat... |
ORPHA:3473 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Micrognathia, Absent frontal sinuses, Patent ductus arteriosus, Dental malocclusion,... |
OMIM:102500 |
Myopathy, Myofibrillar, 8 |
|
Dental malocclusion, High palate, Elevated circulating creatine kinase concentration, Micrognathia |
OMIM:617258 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent... |
OMIM:224300 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Micrognathia, Patent ductus arte... |
ORPHA:391641 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Thrombocytopenia, Babinski sign, Dysmetria, Acute myelomonocytic leukemia, ... |
OMIM:159550 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Dystonia |
ORPHA:306669 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain... |
OMIM:617916 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Vacuolated lymphocytes, Vomiting, Hyponatremia, Abdom... |
ORPHA:275761 |
Hereditary Coproporphyria |
|
Hyponatremia, Dark urine, Small intestinal dysmotility, Abdominal pain, Abnormal circulating porp... |
ORPHA:79273 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Abdominal distention, Leukocytosis, Chronic diarrhea, Bronchiectasis, Hemiparesis, ... |
OMIM:620233 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Tremor, Hepatosplenomegaly, Clumsiness, Eyelid myoclonus, Myoclonus, Dysphagia, Limb myoclonus, F... |
ORPHA:2590 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls, Hepatic... |
OMIM:616719 |
Qazi-Markouizos Syndrome |
|
Chronic constipation, Torticollis, Abdominal distention |
ORPHA:3010 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:619662 |
Malignant Peritoneal Mesothelioma |
|
Abdominal distention, Peritonitis, Ileus, Abdominal pain |
ORPHA:168811 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, Abdominal disten... |
OMIM:617156 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... |
ORPHA:411536 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Thrombocytopenia, Anemia |
ORPHA:2123 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Hepatic cysts, Renal cyst |
OMIM:263630 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Chorea, ... |
OMIM:604290 |
Spinocerebellar Ataxia 2 |
|
Ataxia, Urinary incontinence, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Dysmetria, ... |
OMIM:183090 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal ag... |
ORPHA:2260 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Hypercholesterolemia, Increased C-peptide... |
ORPHA:528 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Abnormal pyramidal sign, Feeding difficulties, Bradykinesia, Ankle clonus, Hype... |
OMIM:617435 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate, Micropenis, Tetralogy of... |
OMIM:617925 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ... |
OMIM:190350 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Lower limb spasticity, Ataxia, Feeding difficulties in infancy, Hyperhomocysti... |
ORPHA:395 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, Abnormal pyramidal sign, Feeding difficulties, Ethylmalonic aciduria, Lethargy |
OMIM:201470 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Hypospadias, Short lingual frenulum, Unilateral renal agenesis, Microgn... |
ORPHA:96121 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Hydrocephalus, Occipital encephalocele |
OMIM:607361 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circulating guanosine conc... |
OMIM:613179 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain, Thrombocytop... |
ORPHA:91547 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy, Constipation |
OMIM:274400 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Otitis media, Vesicoureteral reflux, Hypospadias, Abn... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Otitis media, Vesicoureteral reflux, Hypospadias, Abn... |
ORPHA:353277 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Lobulated tongue, High palate, Chronic otitis media, Multicystic kidney dysplasia, ... |
ORPHA:2750 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of dental eruption, Retrognathia, Wide mouth, Abno... |
ORPHA:96092 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Urinary incontinence, Bowel incontinence, Parkinsonism, Oculogyric crisis, Rigidi... |
ORPHA:306674 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... |
OMIM:614227 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Hepatomegaly, Feeding difficulties, Limb dystonia, Lethargy |
OMIM:604377 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Vesicoureteral reflux, Tooth ... |
ORPHA:2484 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Micrognathia, Abnormality of the ureter, Gingival overgrowth, Renal cys... |
ORPHA:1834 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Hydrocephalus, Anencephaly, Polycystic kidney dysplasia, Occipital meningocele, Micropenis |
OMIM:616546 |
Mirizzi Syndrome |
|
Dark urine, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Pancreatitis, Vomiti... |
ORPHA:521219 |
Secondary Short Bowel Syndrome |
|
Small intestinal dysmotility, Abdominal distention, Diarrhea, Low plasma citrulline, Malnutrition... |
ORPHA:95427 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Dystonia, Tremor, Horseshoe kidney, Feeding difficulties, Choreoathetosis, Constipation, Gastroes... |
OMIM:617664 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... |
ORPHA:2980 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Supernume... |
OMIM:311200 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Tremor, Feeding difficulties, Decreased serum creatinine, Hypohomocyst... |
OMIM:617744 |
Neural Tube Defects, Susceptibility To |
|
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
OMIM:182940 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Hypertriglyceridemia, Tented upper lip vermilion, Delayed eruption of prim... |
ORPHA:819 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Unilateral renal agenesis, Pat... |
ORPHA:487796 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Feeding difficult... |
OMIM:616050 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Ataxia... |
ORPHA:79282 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
OMIM:157980 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy, Spasticity |
OMIM:603896 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Bipolar affective disorder, Gastroparesis, Elevated circulating creatine kinase c... |
ORPHA:254892 |
Cardiomyopathy, Dilated, 1B |
|
Vascular dilatation |
OMIM:600884 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PT... |
OMIM:612462 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Urinary incontinence, Bowel incontinence, Parkinsonism, Action t... |
OMIM:300623 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, High, narrow palate, Patent ductus arteriosus, Ab... |
ORPHA:3378 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Overriding aorta, Acne, Dental malocclusion, Cl... |
OMIM:101200 |
Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dystonia, Dysuria, Elevated circulating creatinine concentration, Gout, Hype... |
ORPHA:79233 |
Alg9-Cdg |
|
Microretrognathia, Hypoplasia of the bladder, Smooth philtrum, Thin upper lip vermilion, Hepatome... |
ORPHA:79328 |
Evans Syndrome |
|
Lethargy, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Auto... |
ORPHA:1959 |
Short Syndrome |
|
Delayed eruption of teeth, Prominent superficial veins, Micrognathia, Dental malocclusion, Downtu... |
OMIM:269880 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel mor... |
ORPHA:96263 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Hyperlipidemia, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
Cardiofaciocutaneous Syndrome 1 |
|
Abnormality of the dentition, Open bite, Micrognathia, Deep philtrum, Submucous cleft hard palate... |
OMIM:115150 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Abnormal dental enamel mor... |
ORPHA:96264 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Alternating Hemiplegia Of Childhood |
|
Dystonia, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Abdominal distention, Gastrointest... |
ORPHA:2131 |
Sneddon Syndrome |
|
Tremor, Nephropathy, Chorea, Hemiparesis |
ORPHA:820 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Varicose veins, Macroglossia, Thick vermilion bo... |
ORPHA:500095 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Anterior open-bite malocclusion... |
OMIM:617877 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hepatomegaly, Giant cell hepatitis, Extramedullary hematopoiesis, Conjugated hyperbil... |
ORPHA:79303 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa... |
ORPHA:93111 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Deep philtrum, Non-midline cleft lip, Orofacial cle... |
ORPHA:1297 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrhea, Vomiting, Hypocholesterolemia |
ORPHA:71 |
Crigler-Najjar Syndrome |
|
Lethargy, Infectious encephalitis |
ORPHA:205 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poiki... |
OMIM:615631 |
Larsen-Like Syndrome |
|
Recurrent otitis media, Malar flattening, Dental malocclusion, Cleft palate |
OMIM:608545 |
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 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Micrognathia, Cardiomegaly, Splenomegaly, Recu... |
OMIM:252500 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias |
OMIM:610644 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S... |
OMIM:612716 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Holoprosencephaly, Polycystic kidney dysplasia |
OMIM:619879 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Abdominal distention, Ureteral duplication, Secretory diarrhea, Renal duplication |
OMIM:270420 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis... |
OMIM:606324 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ... |
ORPHA:48818 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Abnormal renal corticomedullary differentiation, Thrombocytopenia, Hepatomegaly |
OMIM:617397 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Diarrhea, Leukocytosis, Hepat... |
OMIM:209950 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
Adnp Syndrome |
|
Thin upper lip vermilion, Recurrent urinary tract infections, Urinary incontinence, Thick lower l... |
ORPHA:404448 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Retrognathia, Fetal megacystis, Long philtrum |
ORPHA:73246 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... |
OMIM:616860 |
Pelizaeus-Merzbacher Disease |
|
Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Head titubation, Spastic parapleg... |
OMIM:312080 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentr... |
ORPHA:26793 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Abdominal pain, Cardiomegaly, Increased circulating ferritin concentration, Elevate... |
ORPHA:465508 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... |
OMIM:612921 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth, Increased insulin like growth factor binding protein acid labile subun... |
OMIM:619489 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... |
ORPHA:3202 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Urinary incontinence, Tremor, Rigidity, Episodic vomiting |
OMIM:603472 |
Cockayne Syndrome |
|
Urinary incontinence, Retinal arteriolar constriction, Hepatomegaly, Abnormal dental morphology, ... |
ORPHA:191 |
Mccune-Albright Syndrome |
|
Hyperphosphaturia, Dental malocclusion, Abnormal facial skeleton morphology, Hepatitis, Renal pho... |
ORPHA:562 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperamm... |
OMIM:212138 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Protuberant abdomen |
OMIM:277300 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dystonia, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, Gait ataxia,... |
ORPHA:225147 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Vomiting, A... |
ORPHA:2552 |
Joubert Syndrome 14 |
|
Tented upper lip vermilion, Cleft palate, Renal cyst, Intracranial hemorrhage, Short philtrum, Ma... |
OMIM:614424 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Hypospadias, Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phyt... |
OMIM:614866 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ... |
ORPHA:2036 |
Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal cerebral vascular morphology, Microgna... |
ORPHA:2067 |
Pseudoxanthoma Elasticum |
|
Acne, Skin rash, Abnormal cerebral vascular morphology, Arterial stenosis, Nephrocalcinosis, High... |
ORPHA:758 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Abnormality of the kidney, Vertebrobasilar dol... |
ORPHA:521445 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Acne, Gingival overgrowth, Wide mouth, Short ph... |
ORPHA:137834 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Patent ductus arteriosus, Hypoplastic aortic arch, Ho... |
OMIM:306955 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Enlarged polycystic ovaries,... |
ORPHA:2869 |
Familial Thyroid Dyshormonogenesis |
|
Feeding difficulties in infancy, Constipation, Lethargy, Abnormal circulating thyroglobulin level... |
ORPHA:95716 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Persistence of primary teeth, Recurrent pneumonia, Chronic mucocutaneous candidiasis, ... |
OMIM:147060 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Nephronophthisis-Like Nephropathy 1 |
|
Kinetic tremor, Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts,... |
OMIM:613159 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Splenomegaly, Xanthel... |
OMIM:210250 |
Cystinuria |
|
Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia |
ORPHA:214 |
Telangiectasia, Hereditary Benign |
|
Vascular dilatation |
OMIM:187260 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Micrognathia, Bilateral cleft lip and palate, Thin vermilion border... |
OMIM:618829 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Abdominal distention, Splenomegaly, Hypocalcemia, Micropenis, Hepatic failure, Hypo... |
OMIM:235255 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Ovarian Fibroma |
|
Abdominal distention, Peritonitis, Abdominal pain |
ORPHA:314473 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Abdominal distention, Splenomegaly, Abnormal renal morphology, Hepatosplenomegaly, ... |
ORPHA:1655 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Feeding diffic... |
OMIM:619911 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Pancytopenia, Proteinuria, Thrombocytopenia, Stage 5 chronic kidney disease,... |
OMIM:242900 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Hypoplas... |
OMIM:211380 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate |
ORPHA:3019 |
Osteopetrosis, Autosomal Recessive 3 |
|
Distal renal tubular acidosis, Dental malocclusion, Hepatosplenomegaly |
OMIM:259730 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Thick upper lip vermilion, Narrow palate, Dental malocclusion |
OMIM:617883 |
Encephalitis Lethargica |
|
Parkinsonism, Urinary incontinence, Bowel incontinence, Tremor, Lethargy |
ORPHA:83600 |
Caroli Disease |
|
Hepatomegaly, Cholangitis, Conjugated hyperbilirubinemia, Splenomegaly, Polycystic kidney dysplas... |
ORPHA:53035 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Micrognathia, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain |
OMIM:277320 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormal dental morphology, Renal hypoplasia... |
ORPHA:568 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Exaggerated cupid's bow, Open bite, High, narrow palate, Dental... |
ORPHA:453504 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Exaggerated cupid's bow, Open bite, High, narrow palate, Dental... |
ORPHA:352665 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administrati... |
OMIM:103580 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Proteinuria, Ataxia, Feeding difficulties in infancy, Tremor, Diarrhe... |
OMIM:212065 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Ectopic k... |
ORPHA:2136 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Megaloblastic anemia, Tremor, Dysp... |
OMIM:222300 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta |
ORPHA:71267 |
Brachydactyly, Type B1 |
|
Micropenis, Delayed eruption of permanent teeth |
OMIM:113000 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth... |
ORPHA:2108 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Abdominal distention, Vomit... |
ORPHA:90003 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... |
OMIM:618727 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cleft palate, Cardiomegaly |
ORPHA:158687 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Abdominal distention, Renal hypoplasia, Ureteral agene... |
OMIM:617666 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abdomen |
ORPHA:226313 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
ORPHA:2563 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Coronary artery dissection, Thickene... |
ORPHA:2614 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Ataxia, Feeding difficulties, Proximal tubulopathy, Vomit... |
ORPHA:2609 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Classic Phenylketonuria |
|
Nausea and vomiting, Eczema, Tremor, Paraplegia, Depression, Hypertonia, Hyperphenylalaninemia, H... |
ORPHA:79254 |
Ogden Syndrome |
|
Micrognathia, Cardiomegaly, Deep philtrum, Short philtrum, High palate, Thick upper lip vermilion... |
OMIM:300855 |
Chromosome 17Q12 Deletion Syndrome |
|
Mandibular prognathia, Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic... |
OMIM:614527 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Uveitis, Bloody diarrh... |
ORPHA:99826 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:615994 |
Listeriosis |
|
Tremor, Granulomatosis, Vomiting, Conjunctivitis, Cholecystitis, Infectious encephalitis, Nausea,... |
ORPHA:533 |
Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Apathy, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Micrognathia, Non-midline cleft lip, Cleft palate, Dow... |
ORPHA:2075 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iro... |
ORPHA:37042 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Myoclonus,... |
ORPHA:79263 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney, Aplasia of the... |
OMIM:612284 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:79240 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616629 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... |
ORPHA:64739 |
Relapsing Polychondritis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... |
ORPHA:728 |
Restrictive Dermopathy |
|
Ureteral duplication, Natal tooth, Hypospadias, Micrognathia, Patent ductus arteriosus, Submucous... |
ORPHA:1662 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein... |
ORPHA:116 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Micrognathia, Renal hypoplasia/aplasia, High, narro... |
ORPHA:3015 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Tremor, Methylmalonic aciduria, Dysmetria, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Hypoammonemia, Micrognathia, Deep philtrum, Gingivitis, O... |
ORPHA:534 |
Mosaic Trisomy 1 |
|
Microretrognathia, Thick lower lip vermilion, Renal cortical cysts, Renal cyst, Coarctation of ao... |
ORPHA:1692 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Multicystic kidney dysplasia, Micrognathia, Long philtrum, Hydronephrosis |
ORPHA:85201 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Depr... |
ORPHA:282166 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention |
OMIM:619345 |
Hypermanganesemia With Dystonia 2 |
|
Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park... |
OMIM:617013 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Dentinogenesis imperfecta, Retrognathia, Delayed eruption of permanent teeth, Periodontitis, Prem... |
OMIM:619269 |
Takayasu Arteritis |
|
Increased inflammatory response, Vasculitis, Arterial stenosis, Ascending tubular aorta aneurysm,... |
ORPHA:3287 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal cerebral vascul... |
ORPHA:904 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal c... |
OMIM:620306 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Abdominal distention, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal co... |
OMIM:619351 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Anorexia, Abdominal distentio... |
ORPHA:100085 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Mandibular prognathia, Delayed eruption of teeth, Hepatomegaly, Splenomegal... |
OMIM:135500 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Tented upper lip vermilion, Hypospadias, Median cleft lip, Microgna... |
ORPHA:2059 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... |
ORPHA:397946 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Abnormal circulating protein concentration, Viral hepatitis, Membranoprolife... |
ORPHA:48435 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy, Feeding difficulties |
OMIM:618232 |
Systemic Sclerosis |
|
Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, El... |
ORPHA:90291 |
Lowry-Maclean Syndrome |
|
Hypospadias, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, na... |
ORPHA:2409 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Carpenter Syndrome 1 |
|
Hydroureter, Micrognathia, Hypoplasia of the maxilla, Persistence of primary teeth, Patent ductus... |
OMIM:201000 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Recurrent otitis media, Dental malocclusion |
OMIM:608940 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Tetanus |
|
Elevated circulating creatine kinase concentration, Bowel incontinence, Elevated urinary norepine... |
ORPHA:3299 |
Schwartz-Jampel Syndrome |
|
Pursed lips, Elevated circulating creatine kinase concentration, Micrognathia, Trismus, Supernume... |
ORPHA:800 |
Monosomy 22Q13.3 |
|
Dental crowding, Recurrent skin infections, Dental malocclusion, Hydronephrosis, Vesicoureteral r... |
ORPHA:48652 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hepatomegaly, Renal insufficiency, Proteinuria, Delayed eruption of primar... |
OMIM:216400 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion |
ORPHA:181 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Macroglossia, Thi... |
OMIM:614607 |
Achondrogenesis, Type Ib |
|
Abdominal distention |
OMIM:600972 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Mercury Poisoning |
|
Anorexia, Tremor, Episodic abdominal pain, Hypokalemia, Interstitial pneumonitis, Dystonia, Acute... |
ORPHA:330021 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Hypoalbuminemia, Micropenis, Hepatomegaly, Hemolytic anemia, Chilblains, Thickened gl... |
OMIM:619487 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Mitochondrial Trifunctional Protein Deficiency |
|
Feeding difficulties in infancy, Babinski sign, Hypocalcemia, Left ventricular hypertrophy, Letha... |
ORPHA:746 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Fgfr2-Related Bent Bone Dysplasia |
|
Hepatosplenomegaly, Natal tooth, Gingival overgrowth, Micrognathia |
ORPHA:313855 |
Trisomy 1Q |
|
Microretrognathia, Multicystic kidney dysplasia, Patent ductus arteriosus, Cleft palate, Congenit... |
ORPHA:261344 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Hyponatremia, Anterior open-bite malocclusion, Hashimoto thyroiditis |
ORPHA:83601 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... |
OMIM:613849 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open... |
ORPHA:828 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Gingival fibromatosis, Renal cyst, Renal cell carcinoma, Renal angiomyolipoma... |
OMIM:191100 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Depre... |
OMIM:128100 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Patent ductus arteriosus, Retrognathia, Dentinogenesis imperfecta |
ORPHA:166272 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increa... |
ORPHA:508 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth |
OMIM:609638 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis of the small joints of the hand, Left ventricular hypertrophy, Arterial tortuosity... |
ORPHA:284984 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Deep philtrum, Renal cyst, Coarctation of aorta, Wide mouth, Renal dysp... |
OMIM:617260 |
Cystic Echinococcosis |
|
Abdominal symptom, Hepatomegaly, Eosinophilia, Renal cyst, Membranous nephropathy, Ovarian cyst, ... |
ORPHA:400 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... |
OMIM:300990 |
Achondrogenesis Type 1A |
|
Abdominal distention |
ORPHA:93299 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase co... |
OMIM:615673 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Recurrent pneumonia, Feeding difficulties, Hypocalcemia, Lethargy, Micropenis, Poor ... |
OMIM:607143 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Renal agenesis, Hypospadias, Pure red cell aplasia, Thrombocytosis, Eryth... |
ORPHA:124 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Tented upper lip vermilion, Hypercalcemia, Exaggerated cupid's bow, Microgn... |
ORPHA:369837 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Chronic ... |
OMIM:304790 |
Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Cleft palate, Multiple renal cysts |
ORPHA:1318 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Hypospadias, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia... |
OMIM:603457 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Pancreatic cysts, Chronic kidney... |
OMIM:208500 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Orthostatic Hypotension 2 |
|
Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal oral mucosa morphology, Abnormal blood ion concentration, Renal cyst... |
ORPHA:79404 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over... |
ORPHA:420561 |
Mpdu1-Cdg |
|
Eczema, Elevated circulating creatine kinase concentration, Prominent frontal sinuses, Renal cort... |
ORPHA:79323 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Cleft... |
ORPHA:33001 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... |
OMIM:610829 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-delta T cells, Increased mean... |
OMIM:619774 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:264580 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Increased urinary glycerol, Hepatomegaly |
OMIM:229700 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Natal tooth, Hypospadias, Micrognathia, Patent ductus arteriosus, Submucous... |
OMIM:275210 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Urinary incontinence, Bowel incontinence, Parkinsonism, Tremor, Depression, Fasciculations, Frequ... |
ORPHA:329478 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Microretrognathia, Patent ductus arteriosus, Vascular dilatation |
OMIM:220220 |
Myopathy, Centronuclear, X-Linked |
|
High palate, Dental malocclusion |
OMIM:310400 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum |
OMIM:618825 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Protruding tongue, Micrognathia, Coarctation of aorta, Long philtrum, Malar flattening |
ORPHA:50945 |
Biotinidase Deficiency |
|
Ataxia, Skin rash, Hyperammonemia, Organic aciduria, Conjunctivitis, Spastic paraparesis, Letharg... |
ORPHA:79241 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Osteomyelitis, Skin rash, Eczema, Abnormality of the dentition, Cleft ... |
ORPHA:2314 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Acu... |
ORPHA:36238 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vo... |
ORPHA:94080 |
Currarino Syndrome |
|
Neurogenic bladder, Recurrent urinary tract infections, Urinary incontinence, Perianal abscess, G... |
OMIM:176450 |
Wiedemann-Rautenstrauch Syndrome |
|
Wide penis, Downturned corners of mouth, Short philtrum, Vesicoureteral reflux, Premature loss of... |
ORPHA:3455 |
Caroli Syndrome |
|
Hepatomegaly, Abnormality of the kidney, Cholangitis, Conjugated hyperbilirubinemia, Polycystic k... |
ORPHA:480520 |
Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Prominent scalp veins, Natal tooth, Hypertriglyceridemia, Hypospadias,... |
OMIM:264090 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Thick ... |
OMIM:309900 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Depression, Feeding difficulties, Hyperkinetic movements, Microphallus, Spasticity |
OMIM:300957 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Renal tubular acid... |
OMIM:616457 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Recurrent pneumonia, Thin vermilion borde... |
OMIM:214150 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Dilatation of the cerebral artery, Vascular dilatation, Cardiomegaly |
ORPHA:615 |
Alveolar Echinococcosis |
|
Ataxia, Cholangitis, Eosinophilia, Abdominal pain, Hepatic cysts, Pancreatic cysts, Renal cyst, H... |
ORPHA:284 |
Familial Visceral Myopathy |
|
Vesicoureteral reflux, Abdominal distention, Hydroureter, Megacystis |
ORPHA:2604 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Patent ductus arteriosus, Submucous clef... |
ORPHA:2712 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean cor... |
OMIM:616689 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Proteinuria, Pneumonia, Ectopic... |
OMIM:122470 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormality of the kidney, Abnormal oral muc... |
ORPHA:289 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Sub... |
ORPHA:53719 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Dilation of Virchow-Robin spaces, Micrognathia, Hypophosphaturia, Dental malocclusion, Localized ... |
ORPHA:73223 |
Syndromic Diarrhea |
|
Hepatomegaly, Gastritis, Splenomegaly, Renal hypoplasia, Colitis, Polycystic kidney dysplasia, Ab... |
ORPHA:84064 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Patent ductus arteriosus after premature birth,... |
OMIM:618460 |
Immunodeficiency 32B |
|
Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, B... |
OMIM:226990 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti... |
ORPHA:915 |
3M Syndrome |
|
Delayed eruption of teeth, Hypospadias, Abnormal dental enamel morphology, Abnormal cerebral vasc... |
ORPHA:2616 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Patent ductus arterio... |
ORPHA:2473 |
Multifocal Atrial Tachycardia |
|
Feeding difficulties in infancy, Lethargy |
ORPHA:3282 |
Mody |
|
Abnormality of the kidney, Elevated hemoglobin A1c, Abnormal circulating C-peptide concentration,... |
ORPHA:552 |
Char Syndrome |
|
Persistence of primary teeth, No permanent dentition, Patent ductus arteriosus, Thick vermilion b... |
ORPHA:46627 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Acne, Spina bifida, Seborrheic dermatitis, Splenomegaly, Hydrocephalus, Meningocele,... |
ORPHA:567 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Abdomi... |
OMIM:613795 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Leukopenia, Aminoaciduria, Vomiting, Hypocalcemia, Lymphocytosis... |
OMIM:619991 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:99880 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal s... |
ORPHA:363400 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Patent ductus arterios... |
OMIM:267010 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Thick vermilion border, Micrognathia, Renal cyst, Horseshoe kidney |
OMIM:250410 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth |
OMIM:619356 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Thin upper lip vermilion, Micrognathia, Cleft lip, Patent ductus arteriosus, Renal hypoplasia, Re... |
OMIM:618454 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia |
OMIM:614450 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Enamel hypo... |
OMIM:264700 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia, Giant hypertrophic gastritis, Vascular dilatation |
OMIM:137280 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Persistence of primary teeth, Supernumerary tooth, Recurrent pneumonia... |
OMIM:619752 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neutrophilia, Abdominal pain, Le... |
ORPHA:3260 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Trismus, Deep philtrum, Dental malocclusion, Narrow palate, Wide mouth, Pollakisuria, High palate |
OMIM:227330 |
Cerebrocostomandibular Syndrome |
|
Cleft soft palate, Micrognathia, Ectopic kidney, Cleft lip, Patent ductus arteriosus, Carious tee... |
OMIM:117650 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition |
ORPHA:289494 |
Ovarian Fibrothecoma |
|
Abdominal distention, Peritonitis, Abdominal pain |
ORPHA:314478 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased... |
ORPHA:90041 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Hyperlysinemia |
|
Tremor, Dysmetria, Cystinuria, Opisthotonus, Gastroesophageal reflux, Vomiting, Clumsiness, Hypoo... |
ORPHA:2203 |
Gonadoblastoma |
|
Abdominal distention, Abdominal pain |
ORPHA:206484 |
Coffin-Siris Syndrome 3 |
|
Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick vermilion bord... |
OMIM:614608 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Rigidity, Abdominal distention, Gastroesophageal reflux, Feeding difficulties |
OMIM:620275 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Dystonia, Parkinsonism, Rigidity, Depression, Bradykinesia, Urinary urgency, Myoc... |
OMIM:168601 |
Donohue Syndrome |
|
Abdominal distention, Long penis, Ovarian cyst |
OMIM:246200 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... |
OMIM:267700 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Abdominal pain, Eosinop... |
ORPHA:2070 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Micrognathia, Abnormality of the dentition, Abnormality o... |
ORPHA:261318 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:143 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Ataxia, Skin rash, Tremor, Diarrhea |
ORPHA:29822 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Ol... |
ORPHA:466650 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Downturned co... |
OMIM:620186 |
Congenital Tufting Enteropathy |
|
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Arthritis, Vomiting, Punctate keratitis |
ORPHA:92050 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
Sialuria |
|
Hepatomegaly, Splenomegaly, Poor fine motor coordination, Protuberant abdomen, Increased level of... |
OMIM:269921 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Enanthema, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubuloin... |
ORPHA:139402 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paraly... |
OMIM:616586 |
Hamamy Syndrome |
|
Thin upper lip vermilion, Micrognathia, Dental malocclusion, Wide mouth, High palate, Everted low... |
OMIM:611174 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hematuria, Increased mean c... |
OMIM:617021 |
Williams-Beuren Syndrome |
|
Nephrocalcinosis, Vesicoureteral reflux, Microdontia, Micropenis, Pelvic kidney, Renal hypoplasia... |
OMIM:194050 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Polyembryoma |
|
Abdominal distention, Elevated circulating alpha-fetoprotein concentration, Abdominal pain |
ORPHA:180229 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Paraparesis, Lymp... |
ORPHA:449427 |
Cockayne Syndrome B |
|
Mandibular prognathia, Hepatomegaly, Renal insufficiency, Proteinuria, Delayed eruption of primar... |
OMIM:133540 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Cerebr... |
ORPHA:666 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Ataxia, Abdominal pain, Diarrhea, Elevated urinary dopamine... |
OMIM:256700 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Hypospadias, Micrognathia, Dental malocclusion, Cleft palate, Downturned corners of mouth, High p... |
OMIM:265000 |
Medulloblastoma |
|
Nausea and vomiting, Ataxia, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar ataxi... |
ORPHA:616 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Renal cyst, Exaggerated median tongue furrow, Hepatomegaly, Hypospadias, P... |
OMIM:312870 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Bipolar affective disorder, Parkinsonism, Anorexia, Tremor |
ORPHA:3077 |
Pallister-Hall Syndrome |
|
Microretrognathia, Natal tooth, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Accessory... |
ORPHA:672 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Tenesmus, Urinary mulberry cells, Ane... |
OMIM:301500 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia |
ORPHA:110 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Uveitis, Widely spaced pr... |
ORPHA:90322 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypospadias, Ataxia, Feeding difficulties in infanc... |
OMIM:252010 |
Nipah Virus Disease |
|
Nausea and vomiting, Anorexia, Tremor, Myoclonus, Infectious encephalitis |
ORPHA:99825 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, A... |
ORPHA:54251 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Truncal ataxia, Dysmetria, Chronic constipation, Progressive spast... |
OMIM:210000 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Lymphadenitis, Leukocyto... |
OMIM:618886 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Micrognathia, Triangular mouth, Renal ... |
OMIM:257300 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Hypercalcemia, Urinary incontinence, Micrognathia, Abnormality of the dentition,... |
ORPHA:476126 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Micrognathia, Persistence of pr... |
ORPHA:2785 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Low urina... |
ORPHA:94089 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Enlarged ovaries, Proteinuria, Pneumonia, Skin rash, Ab... |
ORPHA:2298 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Left ventricular hypertrophy, Hypercholesterolemia |
ORPHA:90065 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Insulinoma |
|
Tremor, Lethargy |
ORPHA:97279 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Spastic tetraparesis, Abnormal pyramidal si... |
ORPHA:436271 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Ataxia, Pericarditis, Anorexia... |
ORPHA:3452 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Osteomyelitis, Persistence of primary teeth, Carious teeth, Mandibular ost... |
OMIM:259710 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Abdominal distention, Secretory diarrhea, Hypochloremia, Hypokalemia, Increased cir... |
OMIM:214700 |
Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Pat... |
OMIM:618280 |
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 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Elevated circulating creatine kinase concentration, Fasciculations, Dysphagia |
OMIM:313200 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst, Hepatomegaly |
OMIM:601539 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Aortic isthmus hyp... |
OMIM:180849 |
Spinocerebellar Ataxia Type 27 |
|
Tremor, Hand tremor, Gait ataxia, Limb ataxia, Depression, Truncal ataxia |
ORPHA:98764 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... |
ORPHA:1452 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612463 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, ... |
OMIM:151660 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
Orotic Aciduria |
|
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... |
ORPHA:199351 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Ectopic kidney, Congenital hypertrophy of left ventricle, Polycysti... |
ORPHA:96149 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Abdominal pain, Abdominal distention, Thrombocytopenia, Leukopenia, Microangiopa... |
ORPHA:2330 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Prominent superficial veins, Dental crowding, Micrognathia, Dental malocclusio... |
OMIM:614008 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Micrognathia, Recurrent pneumonia, Multiple bladder diverti... |
OMIM:613177 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aspiration pneumonia... |
ORPHA:99027 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Micrognathia, Abnormality of the tongue,... |
ORPHA:912 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating C-react... |
ORPHA:158061 |
Smith-Lemli-Opitz Syndrome |
|
Gastrointestinal dysmotility, Renal cyst, Hypertonia, Vomiting, Hypoalbuminemia, Gastroesophageal... |
OMIM:270400 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Eczema, Downturned corners of mouth, Abnormal aortic morphology, Th... |
ORPHA:1001 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Urinary incontinence, Cardiomegaly, Tremor, Diarrhea, Abnormal pyramidal sign, Paraplegia... |
OMIM:105210 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... |
OMIM:209885 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic... |
ORPHA:845 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru... |
OMIM:233450 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Recurrent urinary tract infections, Dilatation of the ventr... |
ORPHA:90349 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom... |
OMIM:200990 |
Ddost-Cdg |
|
Tremor, Oromotor apraxia, Constipation, Gastroesophageal reflux, Nephrotic range proteinuria |
ORPHA:300536 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Dental malocclusion, High palate, Malar flattening, Retrognathia, Homocystinuria, Bifid uvula |
OMIM:601552 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Multicystic kidney dysplasia, Feeding difficulties, Choreoathetosis, Gastroesopha... |
ORPHA:261197 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Glomerulopathy, Intestinal obstruction, Renal insufficiency, Proteinuria, My... |
ORPHA:183 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, ... |
ORPHA:95455 |
Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Micrognathia, Patent ductus arteriosus, Arterial stenosis, Orofacia... |
ORPHA:1556 |
Amoebiasis Due To Free-Living Amoebae |
|
Increased red blood cell count, Sinusitis, Ataxia, Pneumonia, Pustule, Hemiparesis, Intrarenal ab... |
ORPHA:68 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Hypospadias, Persistence of primary teeth, Patent ductus arteriosus, H... |
OMIM:300166 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Vomiting |
ORPHA:677 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Feeding difficulties in inf... |
OMIM:239200 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia |
OMIM:200980 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depression, Myoclonus, Tr... |
OMIM:137440 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal h... |
OMIM:118450 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Pelvic kidney, T... |
OMIM:247200 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Malar flattening, Dental malocclusion, Micrognathia |
OMIM:608257 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Persistence of primary teeth, Hypoplasia of the maxilla, Carious tee... |
ORPHA:2044 |
Sclerosteosis 1 |
|
Mandibular prognathia, Dental malocclusion, Facial palsy secondary to cranial hyperostosis, Malar... |
OMIM:269500 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Hyperalaninemia, Tubulointerstitial nephritis, Feeding difficulties |
OMIM:614582 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Feeding difficulties in ... |
ORPHA:1454 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... |
ORPHA:1507 |
Tetraamelia-Multiple Malformations Syndrome |
|
Narrow mouth, Multicystic kidney dysplasia, Orofacial cleft, Micrognathia |
ORPHA:3301 |
Hardikar Syndrome |
|
Cholangitis, Vesicoureteral reflux, Bladder exstrophy, Hepatomegaly, Cleft soft palate, Patent du... |
OMIM:301068 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Delayed eruption of teeth, Hepatomegaly, Open mouth, Pulmonary arte... |
OMIM:280000 |
3-Methylglutaconic Aciduria, Type Viib |
|
Dystonia, Ataxia, Tremor, Recurrent pneumonia, Neutropenia, Feeding difficulties, Opisthotonus, C... |
OMIM:616271 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Constipation, Increased circulating thyroglobulin level, Feeding difficulties |
ORPHA:226316 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Feeding difficulties in infancy, Depression, Clumsiness, Constipation, Hypercholesterolemia, Abno... |
ORPHA:90674 |
Pearson Syndrome |
|
Renal cyst, Hypocalcemia, Neutropenia, Hepatomegaly, Reticulocytosis, Ataxia, Chronic diarrhea, H... |
ORPHA:699 |
Young-Onset Parkinson Disease |
|
Gastroparesis, Tremor, Rigidity, Diarrhea, Depression, Bradykinesia, Constipation, Apathy, Dyston... |
ORPHA:2828 |
Congenital Disorder Of Glycosylation, Type If |
|
Thin vermilion border, Renal cortical cysts, Erythroderma |
OMIM:609180 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... |
OMIM:170390 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Varicose veins, Macroglossia, Thick vermilion border, Nephroblasto... |
OMIM:617107 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention |
ORPHA:1876 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Abnormality of the kidney, Micrognathia, Cleft palate, Tubulointerstitial nephritis, Enuresis, Wi... |
ORPHA:459061 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Narrow palate, High palate, Aortic ... |
OMIM:182212 |
Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Dental crowding, Cleft upper lip,... |
ORPHA:2052 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Enamel hypo... |
ORPHA:289157 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Smooth philtrum, Dental crowding, Micrognathia, Varicose veins, Thin vermilion border, Short phil... |
OMIM:618343 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Dystonia, Ataxia, Urinary incontinence, Parkinsonism, Acanthocytosis, Feeding dif... |
OMIM:234200 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Micropenis, Proteinuria |
OMIM:619471 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Protein avoidance, Increased circulating ferritin concentration, Dia... |
OMIM:222700 |
Trichinellosis |
|
Skin rash, Babinski sign, Hemiparesis, Apathy, Conjunctivitis, Dysphagia, Hemiplegia, Lethargy, N... |
ORPHA:863 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Urinary incontinence, Tremor, Chorea, Vomitin... |
ORPHA:94093 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys... |
OMIM:619405 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Deep philtrum, Vascular dilatation, Cardiomegaly |
OMIM:613320 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Glutaric aciduria, Chorea, Chro... |
ORPHA:25 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... |
ORPHA:98870 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Seborrheic dermatitis, Marked delay in eruption of permanent ... |
OMIM:104570 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Joubert Syndrome 2 |
|
Renal insufficiency, High palate, Renal cyst, Nephronophthisis |
OMIM:608091 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Micrognathia, Splenomegaly, Renal cyst, High palate, Increased circulating very lon... |
OMIM:261515 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Renal insufficiency, Left ventricular hypertrophy, Cholangitis, Micrognathia, Splen... |
OMIM:613610 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Encephalocele, Hypospadias, Epispadias, Exencephaly |
ORPHA:2211 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Hepatomegaly, Cholangitis, Accessory oral frenulum, Micrognathia, Pancreati... |
OMIM:266920 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Ataxia, Reye syndrome-like episodes, Diarrhea, Abdominal dis... |
OMIM:256810 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Skin rash, Increased circ... |
OMIM:603553 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... |
ORPHA:2107 |
Marbach-Rustad Progeroid Syndrome |
|
Prominent superficial veins, Delayed eruption of primary teeth, Micrognathia, Eruption failure, H... |
OMIM:619322 |
Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... |
OMIM:265800 |
Atelosteogenesis Type I |
|
Multiple renal cysts, Cleft palate, Micrognathia |
ORPHA:1190 |
Fraser Syndrome 1 |
|
Hypospadias, Dental crowding, Renal hypoplasia/aplasia, Cleft upper lip, Dental malocclusion, Ren... |
OMIM:219000 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Diarrhea, Thromboc... |
OMIM:603554 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Vomiting, Nausea, Decre... |
ORPHA:340 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Bifid tongue... |
OMIM:268310 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Renal cyst, Polycystic ovaries, Vomiting, Hemiplegia, Lethargy |
ORPHA:137675 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Chorea, Knee osteoarthritis, Leu... |
ORPHA:1304 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia |
OMIM:263520 |
Ogden Syndrome |
|
Lethargy, Torticollis, Hypertonia |
ORPHA:276432 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ... |
ORPHA:2780 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Micrognathia, Patent ductus arteriosus, Horseshoe kidney, C... |
ORPHA:99776 |
Perry Syndrome |
|
Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Apathy, Dystonia |
OMIM:168605 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicc... |
ORPHA:309031 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Focal dystonia, A... |
ORPHA:52368 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam... |
ORPHA:276621 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphate... |
ORPHA:289176 |
Eisenmenger Syndrome |
|
Hepatomegaly, Renal insufficiency, Elevated circulating C-reactive protein concentration, Abdomin... |
ORPHA:97214 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Neuromuscular dysphagia, Bradykine... |
ORPHA:240071 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr... |
ORPHA:97339 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Gingival fibromatosis, Renal cyst, Renal cell ... |
OMIM:613254 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Patent ductus arteriosus, Thick... |
ORPHA:1465 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth... |
ORPHA:2063 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Feeding difficulties in infancy, Constipation, Letharg... |
ORPHA:90673 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Abdom... |
ORPHA:653 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Acne, Micrognathia, Dental malocclusion, Gingival overgrowth, Wide mout... |
OMIM:249420 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Abnormal dental morphology, Abnormal dental enamel morphology, Rena... |
ORPHA:2092 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Recurrent urinary tract infections, Carious teeth, Widely spaced teeth... |
OMIM:619229 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Bloody diarrhea, Hypertonia, Hepatomegaly, Hemolytic anemia, Chilblains, Hepa... |
OMIM:615846 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia |
ORPHA:447896 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Feeding difficulties in infancy, Abdominal distention,... |
OMIM:218700 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Papillary renal cell carcinoma, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Joubert Syndrome 1 |
|
Protruding tongue, Renal cyst, Macroglossia, Triangular-shaped open mouth, Nephropathy |
OMIM:213300 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Splenomegaly, Abdominal distention, Hepatomegaly |
OMIM:602557 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion |
OMIM:616202 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Increased urinary glycerol, Hyperglycerolemia, Chronic pancreatitis, Lethar... |
OMIM:307030 |
Menkes Disease |
|
Osteomyelitis, Micrognathia, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Bl... |
ORPHA:565 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Hypospadias, Eczema, Micrognathia, Carious teeth, Velopharyngeal insuf... |
OMIM:223370 |
Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, P... |
OMIM:618371 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
C Syndrome |
|
Hepatomegaly, Accessory oral frenulum, Micrognathia, Patent ductus arteriosus, Renal cortical cys... |
OMIM:211750 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hydrocephalus, Renal hypoplasia, Renal cyst, Stillbirth, Polycystic kidney dysplasia, Hyperbiliru... |
OMIM:210710 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, High palate, Everted lower lip vermilion, Narrow mouth, Retrognathi... |
ORPHA:261349 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Eczema, Micrognathia, Seborrheic dermatiti... |
ORPHA:369950 |
Parkinson Disease 21 |
|
Bradykinesia, Tremor, Rigidity, Parkinsonism |
OMIM:616361 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abdominal distention, Hepatitis, Gastrointestinal inflammation, Hy... |
ORPHA:186 |
Lymphatic Malformation 7 |
|
Abdominal distention, Anemia |
OMIM:617300 |
Serotonin Syndrome |
|
Clonus, Tremor, Rigidity, Diarrhea, Hypertonia, Myoclonus, Hepatic failure, Acute kidney injury, ... |
ORPHA:43116 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Feeding difficulties, Chronic constipation, Gastroesophageal reflux, Lethargy, Micropenis, Poor s... |
ORPHA:398069 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... |
OMIM:618733 |
Eiken Syndrome |
|
Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee... |
OMIM:600002 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia, Hepatomegaly |
OMIM:248370 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Ureteral stenosis, Micrognathia, Cleft palat... |
OMIM:309350 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypospadias, Protuberant abdomen |
ORPHA:457485 |
Thyroid Hypoplasia |
|
Abdominal distention, Constipation |
ORPHA:95720 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Recurrent pneumonia, Dental crowding, Persistence of primary teeth |
OMIM:619769 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T... |
OMIM:614298 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Premature osteoarthritis, Hepatosplenomegaly |
ORPHA:93352 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Renal interst... |
ORPHA:91500 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... |
ORPHA:300298 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Tooth agenesi... |
ORPHA:2637 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Neonatal hyperbilirubinemia, Micrognathia |
ORPHA:73272 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Abdominal distention, Episodic abdominal pain, Cholecystitis, Nausea |
ORPHA:100086 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... |
ORPHA:100026 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Multicystic kidney dysplasia, Hypospadias, Micrognathia, Double outlet ... |
ORPHA:1596 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Ureteral duplication, Cleft upper lip, Dental malocclusion, Horseshoe ... |
OMIM:305600 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Protuberant abdomen |
OMIM:613330 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Carious teeth, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures |
OMIM:277440 |
Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention |
ORPHA:85166 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Abdominal distention, Hydronephrosis, Urethral atresia |
OMIM:271520 |
Noonan Syndrome 1 |
|
Hypospadias, Micrognathia, High, narrow palate, Patent ductus arteriosus, Dental malocclusion, Cl... |
OMIM:163950 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Lethargy, Abnormal circulating thyroglobulin level, Depression |
ORPHA:99832 |
Sandifer Syndrome |
|
Torticollis, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic vo... |
ORPHA:71272 |
Oliver Syndrome |
|
Mandibular prognathia, High palate, Short philtrum, Dental malocclusion |
ORPHA:2920 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r... |
OMIM:218400 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Nausea and vomiting, Elevated hemoglobin A1c, Tremor, Babinski sign, Feeding difficulties, Renal ... |
OMIM:616539 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/aplasia, Myelome... |
ORPHA:93929 |
Arterial Tortuosity Syndrome |
|
Median cleft lip and palate, Abnormal zygomatic bone morphology, Pulmonary artery stenosis, Myoca... |
ORPHA:3342 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Ataxia, Anorexia, Tr... |
ORPHA:3008 |
Semilobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Oromotor apraxia, Feeding difficulties, Depressio... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Oromotor apraxia, Feeding difficulties, Depressio... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Oromotor apraxia, Feeding difficulties, Depressio... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Limb dystonia, Abnormal central motor function, Oromotor apraxia, Feeding difficulties, Depressio... |
ORPHA:93924 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth |
ORPHA:950 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Low urina... |
ORPHA:79444 |
Carpenter Syndrome 2 |
|
Carious teeth, High, narrow palate, Patent ductus arteriosus, Dental malocclusion, Narrow palate,... |
OMIM:614976 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonep... |
OMIM:181270 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Vocal cord paresis, Ataxia, Cardiomegaly, Heparan sulfate excretion in urine, Splen... |
ORPHA:581 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Micrognathia, Cleft lip, Patent ductus arteriosus, Renal cyst, Furrowed tongue, High... |
OMIM:616975 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Recurrent pneumonia, Feeding difficulties, Lethargy, Right ventricula... |
ORPHA:1329 |
Roberts Syndrome |
|
Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depress... |
ORPHA:79095 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent ... |
ORPHA:2250 |
Spondylocarpotarsal Synostosis Syndrome |
|
Cleft palate, Enamel hypoplasia, Failure of eruption of permanent teeth, Renal cyst |
OMIM:272460 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Aspirat... |
ORPHA:646 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Micrognathia, Cleft palate, Glossoptosis, Short hard palate |
ORPHA:1393 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Lethargy, Micropenis, Nasogastric tube feeding |
ORPHA:398079 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Spastic dysarthria, Blepharospasm, Oculo... |
ORPHA:240094 |
Hurler Syndrome |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri... |
OMIM:607014 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Hypospadias, Eczema, Micrognathia, Abnormality of the dentition, Submu... |
ORPHA:235 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... |
ORPHA:1578 |
Osteoglosphonic Dysplasia |
|
Tooth agenesis, Multiple unerupted teeth, Micrognathia |
ORPHA:2645 |
Fibrochondrogenesis 2 |
|
Protuberant abdomen |
OMIM:614524 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... |
OMIM:611881 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Normochromic anemia... |
OMIM:615512 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Hypospadias, Abnormality of the dentition, Absent frontal sinuses, Open bite, Paten... |
ORPHA:955 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Protuberant abdomen |
OMIM:617102 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit... |
ORPHA:29073 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
Vascular Hyalinosis |
|
Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Progressive Supranuclear Palsy |
|
Dystonia, Rigidity, Tremor, Depression, Bradykinesia, Blepharospasm, Dysphagia |
ORPHA:683 |
Glycine Encephalopathy |
|
Lethargy, Poor suck, Hyperglycinemia |
ORPHA:407 |
Renal Nutcracker Syndrome |
|
Proteinuria, Vulval varicose vein, Hematuria, Varicose veins, Renal artery stenosis, Microscopic ... |
ORPHA:71273 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi... |
OMIM:105600 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Abdominal distention, Hepatitis, Bloody dia... |
ORPHA:436252 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri... |
OMIM:253220 |
Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Abnormality of the gingiva, Osteoarthritis, Gingivitis, Periodontitis, Micro... |
ORPHA:286 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam... |
ORPHA:29072 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Delayed eruption of teeth, Skin rash, Abnormal dental enamel morphology, Selective to... |
ORPHA:2909 |
Tetrasomy 9P |
|
Myositis, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum... |
ORPHA:3310 |
Trisomy 9P |
|
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth |
ORPHA:236 |
Femoral-Facial Syndrome |
|
Micropenis, Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology |
OMIM:134780 |
Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis |
ORPHA:279914 |
Coronary Arterial Fistula |
|
Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Bacterial endocarditis, Vascula... |
ORPHA:2041 |
Lumbar Syndrome |
|
Renal agenesis, Hypospadias, Spina bifida, Myelomeningocele, Vesicoureteral reflux, Micropenis, B... |
ORPHA:83628 |
Ataxia-Telangiectasia |
|
Sinusitis, Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Chronic diarrhea... |
OMIM:208900 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Cleft... |
OMIM:610188 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Urinar... |
OMIM:146500 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Thin upper lip vermilion, Micrognathia, Renal cortical cysts, Downturned corners of mouth, Long p... |
OMIM:618548 |
Doors Syndrome |
|
Short lingual frenulum, Nephrocalcinosis, Downturned corners of mouth, Widely spaced teeth, High ... |
ORPHA:79500 |
Immunodeficiency 47 |
|
Splenomegaly, Hypercholesterolemia, Decreased circulating copper concentration, Hepatomegaly |
OMIM:300972 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology |
ORPHA:1782 |
Colonic Atresia |
|
Abdominal distention |
ORPHA:1198 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Hypospadias, Micrognathia, Abnormality of the gingiva, Recurrent pneum... |
ORPHA:798 |
Cocaine Intoxication |
|
Proteinuria, Elevated circulating creatine kinase concentration, Glomerulonephritis, Abdominal pa... |
ORPHA:90068 |
Intrahepatic Cholestasis Of Pregnancy |
|
Skin rash, Abdominal pain, Tremor, Depression, Cholecystitis, Increased serum bile acid concentra... |
ORPHA:69665 |
Joubert Syndrome 21 |
|
Splenomegaly, Hyperechogenic kidneys, Chronic sinusitis, Renal cyst |
OMIM:615636 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Nausea |
OMIM:602481 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent urinary tract infections, Sinusitis, Recurrent skin infe... |
ORPHA:169105 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Renal cyst, Micropenis, Pelvic ... |
ORPHA:464311 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Tremor, Fasciculations, Hydronephrosis, Limb hypertonia |
OMIM:620327 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Hypospadias, Hypoplasia of the maxilla, Eruptio... |
OMIM:166250 |
Joubert Syndrome With Renal Defect |
|
Renal insufficiency, Ataxia, Tremor, Feeding difficulties, Oculomotor apraxia, Nephropathy |
ORPHA:220497 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
Glossopharyngeal Neuralgia |
|
Abnormal palate morphology, Mandibular pain, Vascular dilatation, Tongue pain |
ORPHA:221098 |
Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Dilatation of the ventricular cavity, Bronchiectasis, Coarctation of a... |
ORPHA:90348 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Hepatomegaly, Dystonia, Ataxia, Elevated circulating creatine kinase concentratio... |
OMIM:615356 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:488627 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Arthritis, Dysphagia, Mildly elevated creatine kinase |
ORPHA:397744 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Protuberant abdomen |
OMIM:184250 |
Noonan Syndrome With Multiple Lentigines |
|
Vascular dilatation, Hypospadias, Abnormal localization of kidney |
ORPHA:500 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
High, narrow palate, Recurrent pneumonia, Aortic dissection, Arterial dissection, Abnormal venous... |
ORPHA:1900 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
OMIM:613327 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t... |
OMIM:607812 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... |
ORPHA:30 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Eczema, Unilateral renal agenesis, Patent ductus arteriosus, Renal cyst, Micropenis,... |
ORPHA:464306 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Deep philtrum, Uraciluria, High palate, Open mouth, Retrognathia |
ORPHA:1675 |
Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Keratoconjunctivitis sicca, Delayed eruption of pe... |
OMIM:620370 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Nephrolithiasis, Hypercalciuria, ... |
ORPHA:652 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Dystonia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprot... |
OMIM:606002 |
Fryns Syndrome |
|
Microretrognathia, Ureteral duplication, Tented upper lip vermilion, Renal agenesis, Hypospadias,... |
OMIM:229850 |
Pitt-Hopkins Syndrome |
|
Tooth malposition, Wide mouth, Short philtrum, Thick vermilion border, Esophagitis, Failure of er... |
ORPHA:2896 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Truncus arteriosus, Renal hypoplasia/... |
ORPHA:2538 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Ata... |
OMIM:214500 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ... |
ORPHA:2769 |
Charge Syndrome |
|
Aortic arch aneurysm, Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology... |
ORPHA:138 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tu... |
OMIM:218330 |
Trisomy 10P |
|
Abnormality of the kidney, Micrognathia, Orofacial cleft, Abnormal lip morphology, Thin vermilion... |
ORPHA:171929 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Dy... |
OMIM:615530 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Delayed eruption of teeth, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Low urina... |
ORPHA:79443 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Alveolar ridge over... |
OMIM:301072 |
Opsismodysplasia |
|
Renal phosphate wasting, Protuberant abdomen, Hypophosphatemia |
OMIM:258480 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Chorea, Tubulointerstitial nephritis, Leuk... |
ORPHA:289390 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Feeding difficu... |
OMIM:618056 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Elevat... |
OMIM:256040 |
Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hydroureter, Hypospadias, Ectopic kidney, Co... |
OMIM:135900 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Hepatomegaly, Pneumonia, Carious teeth, Splenomegaly, Dermatan sulfate... |
OMIM:253200 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Urinary urgency, Pollakisur... |
ORPHA:447753 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
Faciocardiomelic Syndrome |
|
Micrognathia, Dental malocclusion, Wide mouth, Long philtrum, Hyperplasia of the maxilla |
OMIM:612731 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Eczema, Delayed eruption of primary teeth, Widely spaced teeth, Urinary retention |
OMIM:617799 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Micrognathia, Cleft palate, Coarctation of aorta, Abnormal aortic m... |
ORPHA:1052 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Narrow mouth, Nep... |
ORPHA:77301 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia |
ORPHA:2050 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Micrognathia, Ascending aorta hypoplasia, Deep philtrum, ... |
OMIM:619503 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholo... |
ORPHA:167 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Patent ductus arteriosus, Hypoplastic aortic arch, Small, conical teet... |
ORPHA:2962 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Micrognathia, Tented philtrum, Renal cyst, Keratoconjunctivitis sicca, Long philtrum |
ORPHA:495875 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Gastroparesis, Ataxia, Tremor, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperala... |
OMIM:614052 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Hyperpepsinogenemia I, Stroke, Vascular dilatation |
OMIM:615745 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Hydrocephalus, Long penis, Frontal encephalocele, Horseshoe kidney, Stillbirth, Poly... |
OMIM:268300 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Proteinuria, Ataxia, Elevated circulating C-reactive p... |
ORPHA:355 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concentration, Feeding d... |
OMIM:610505 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Elevated circ... |
OMIM:615287 |
Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Iron deficiency ... |
ORPHA:358 |
Phace Association |
|
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... |
OMIM:606519 |
Loeys-Dietz Syndrome |
|
Arterial tortuosity, Micrognathia, Patent ductus arteriosus, Orofacial cleft, High palate, Aortic... |
ORPHA:60030 |
C Syndrome |
|
Multicystic kidney dysplasia, Accessory oral frenulum, Micrognathia, Renal hypoplasia/aplasia, Gi... |
ORPHA:1308 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac... |
OMIM:600145 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Prominent superficial veins, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:601812 |
Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted teeth, Narrow m... |
OMIM:311300 |
Tick-Borne Encephalitis |
|
Speech apraxia, Incoordination, Elevated circulating C-reactive protein concentration, Anorexia, ... |
ORPHA:297 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Hepatomegaly, Renal insufficiency, Conjugated hyperbilirubinemia, Increased circulati... |
OMIM:619534 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Malnutrit... |
ORPHA:79408 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Hypospadias, Feeding difficulties, Protuberant abdomen, Tube feeding, Micropenis |
OMIM:619479 |
Thanatophoric Dysplasia, Type I |
|
Protuberant abdomen |
OMIM:187600 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma, Pu... |
ORPHA:538 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Venous insufficiency, High, narrow palate, Hepatitis, Bladder... |
ORPHA:198 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic cysts, Myocarditis, Renal cell carcinoma, Stroke... |
ORPHA:892 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Constrictive pericarditis, Vascular dilatation, Right ventricular hypertr... |
ORPHA:99095 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H... |
ORPHA:373 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft... |
ORPHA:87 |
X-Linked Acrogigantism |
|
Abdominal distention, Ataxia |
ORPHA:300373 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Thick lower lip vermilion, Dental malocclusion, Narrow palate, High palate... |
OMIM:303600 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Skin ra... |
ORPHA:464 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Occipital meningo... |
ORPHA:268810 |
Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Hepatomegaly, Sinusitis, Skin rash, Eczema, Pneumonia, Osteomyelitis, ... |
ORPHA:811 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Long philtrum |
ORPHA:263463 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano... |
OMIM:619381 |
Pagod Syndrome |
|
Abnormal aortic morphology, Multicystic kidney dysplasia, Pulmonary artery hypoplasia, Renal hypo... |
ORPHA:991 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Hepatomegaly, Premature loss of primary teeth, Splenomegaly, Pulmonary... |
ORPHA:667 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Micrognathi... |
ORPHA:564 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Urinary incontinence, Bowel incontinence, Tremor, Feeding difficulties, D... |
ORPHA:512 |
Fibromuscular Dysplasia, Multifocal |
|
Tortuous cerebral arteries, Dental crowding, Micrognathia, Vertebral artery tortuosity, Celiac ar... |
OMIM:619329 |
Cleidocranial Dysplasia 1 |
|
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup... |
OMIM:119600 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr... |
ORPHA:227990 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Dystonia, Feeding difficulties, Lower limb hypertonia, Gastro... |
OMIM:616268 |
Schneckenbecken Dysplasia |
|
Protuberant abdomen |
OMIM:269250 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia... |
ORPHA:199 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o... |
OMIM:268400 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Renal insufficiency, Hypospadias, Micrognathia, Renal cortical cysts, Hyperechogenic kidneys, Rec... |
ORPHA:397715 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... |
ORPHA:391665 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology |
ORPHA:3353 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dent... |
ORPHA:221016 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Abdominal distention, Renal hypoplasia, Renal cyst, ... |
ORPHA:93271 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Protuberant abdomen |
OMIM:151210 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr... |
ORPHA:227982 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Eczema, Coarctation of aorta, Abnormal palate morphology, Long phil... |
ORPHA:2308 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Tremor, Paralysis,... |
ORPHA:79102 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Hepatomegaly, Carious teeth, Splenomegaly, Craniofacial osteosclerosis... |
ORPHA:1328 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dent... |
ORPHA:221008 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Maculopapular exanthema, Conical tooth, Keratitis, Uveitis, Oligodonti... |
OMIM:308300 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Patent ductus ... |
ORPHA:1606 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Hypoplasia of the maxilla, Microgna... |
OMIM:164210 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Widely spaced te... |
ORPHA:2152 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Neutropenia, Feeding difficulties, 3-Methylglutaric aciduria, 3-Methylg... |
OMIM:617248 |
Achondrogenesis, Type Ii |
|
Protuberant abdomen |
OMIM:200610 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Hypospadias, Urethrovaginal fistula, Increased VLDL cholesterol concentration, Conj... |
OMIM:243800 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Thin upper lip vermilion, Hypospadias, Exagge... |
ORPHA:709 |
Thyroid Ectopia |
|
Abdominal distention, Constipation |
ORPHA:95712 |
Dyggve-Melchior-Clausen Disease |
|
Frequent falls, Spastic tetraparesis, Protuberant abdomen |
ORPHA:239 |
Fibrochondrogenesis 1 |
|
Protuberant abdomen |
OMIM:228520 |
Lethal Kniest-Like Dysplasia |
|
Protuberant abdomen |
ORPHA:2347 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Renal agenesis, Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the paroti... |
OMIM:149730 |
Scorpion Envenomation |
|
Hemifacial spasm, Increased circulating NT-proBNP concentration, Ketonuria, Ataxia, Acute pancrea... |
ORPHA:466677 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ... |
ORPHA:261537 |
Hydranencephaly |
|
Lethargy, Spastic diplegia, Opisthotonus |
ORPHA:2177 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Hypospadias, Abnormality of the kidney, Pulmonary artery sling, Pulmon... |
OMIM:235730 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Transient ischemic attack, Dental crowding, Short lingual frenulum, Pe... |
ORPHA:740 |
Loeys-Dietz Syndrome 2 |
|
Micrognathia, Descending thoracic aorta aneurysm, Bifid uvula, Abdominal aortic aneurysm, Eosinop... |
OMIM:610168 |
Mucolipidosis Type Ii |
|
Splenomegaly, Hepatosplenomegaly, Protuberant abdomen, Otitis media, Left ventricular hypertrophy... |
ORPHA:576 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Feeding difficulties in infancy, Lethargy, Abnormal circulating thyroglobulin level, Constipation |
ORPHA:226307 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Gingival overgrowth, Micrognathia |
OMIM:259600 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia, Polyuria |
OMIM:606721 |
Marfan Syndrome |
|
Arthralgia/arthritis, Dental crowding, Micrognathia, Open bite, High, narrow palate, Descending a... |
ORPHA:558 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Panniculitis, Eczema, Gingival overgrowth |
ORPHA:508542 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ... |
ORPHA:261552 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Multicystic kidney dysplasia, Micrognathia, Micropenis, Hydronephrosis |
OMIM:606170 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Hypospadias, Recurrent pneumonia, Hypoplasia of ... |
ORPHA:93357 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Decreased mitochondrial complex III activity in liver tissue, Ataxia, Cholangit... |
OMIM:124000 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Wide mouth |
ORPHA:1231 |
Loeys-Dietz Syndrome 1 |
|
Eosinophilic infiltration of the esophagus, Arterial tortuosity, Micrognathia, Descending thoraci... |
OMIM:609192 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Proteus Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Splenomegaly, Enlarged polycystic ovaries, Long... |
ORPHA:744 |
Neu-Laxova Syndrome 2 |
|
Protuberant abdomen |
OMIM:616038 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Hyperphosphatemia, Hypocalcemic tetany, Calvarial os... |
ORPHA:93325 |
African Trypanosomiasis |
|
Urinary incontinence, Tremor, Choreoathetosis, Vomiting, Conjunctivitis, Iritis, Nausea, Hepatome... |
ORPHA:3385 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, Apathy, ... |
OMIM:601104 |
Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Cleft upper lip, Micrognathia, Abnormality of the dentition, Lower l... |
OMIM:113620 |
Achondrogenesis, Type Ia |
|
Protuberant abdomen |
OMIM:200600 |
Viss Syndrome |
|
Chronic gastritis, Eczema, Abdominal distention, Chronic diarrhea, Hypereosinophilia, Atopic derm... |
OMIM:619472 |
Pineoblastoma |
|
Lethargy, Paralysis |
ORPHA:251909 |
Atelosteogenesis Type Ii |
|
Protuberant abdomen |
ORPHA:56304 |
Familial Adenomatous Polyposis 1 |
|
Eruption failure, Supernumerary tooth, Carious teeth, Odontoma |
OMIM:175100 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Carious teeth, Prominent veins on trunk, High palate, High noncerulopl... |
ORPHA:2834 |
Greenberg Dysplasia |
|
Hepatomegaly, Protuberant abdomen, Hepatosplenomegaly |
OMIM:215140 |
Familial Adenomatous Polyposis |
|
Abnormality of the dentition, Supernumerary tooth, Thyroiditis, Eruption failure, Odontoma, Pancr... |
ORPHA:733 |
Sarcoidosis |
|
Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hepa... |
ORPHA:797 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... |
OMIM:610655 |
Codas Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:600373 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Atelosteogenesis, Type I |
|
Protuberant abdomen |
OMIM:108720 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Townes-Brocks Syndrome 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... |
OMIM:107480 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Eczema, Ker... |
OMIM:308205 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Carious teeth, High palate, Long philtrum, Microdon... |
OMIM:278250 |
Gardner Syndrome |
|
Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition |
ORPHA:79665 |
Ramon Syndrome |
|
Delayed eruption of teeth, Juvenile rheumatoid arthritis, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Protuberant abdomen |
OMIM:618019 |
Waardenburg Syndrome, Type 2E |
|
Vascular dilatation |
OMIM:611584 |
Weill-Marchesani Syndrome 2 |
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Protuberant abdomen |
OMIM:608328 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Delayed eruption of primary teeth |
OMIM:300952 |
Singleton-Merten Syndrome 1 |
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Thin upper lip vermilion, Hypoplasia of the tooth germ, Cardiomegaly, Hypoplasia of the maxilla, ... |
OMIM:182250 |
Pallister-Killian Syndrome |
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Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Mic... |
OMIM:601803 |
Pyknoachondrogenesis |
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Abdominal distention |
ORPHA:3003 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Hepatomegaly, Hepatosplenomegaly, Feeding difficulties, Protuberant abdomen, Gastrostomy tube fee... |
ORPHA:96334 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Myositis, Thyroiditis, Enlargement of parotid gland, Tubulointerstitial nephritis, Keratoconjunct... |
ORPHA:79078 |
Pmm2-Cdg |
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Mandibular prognathia, Thin upper lip vermilion, Pericarditis, Proteinuria, Reduced thyroxin-bind... |
ORPHA:79318 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Delayed eruption of teeth, High palate, Widely spaced teeth, Long philtrum, Microdontia |
OMIM:143095 |
Multiple Osteochondromas |
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Arthritis, Pseudoaneurysm, Urinary retention |
ORPHA:321 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Hepatic arteriovenous malformation, Transient ischemic attack, Pulmonary arteriovenous malformati... |
OMIM:187300 |