Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Fever, Familial Lifelong Persistent |
|
Fever |
OMIM:228400 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Fever, Recurrent bacterial skin infections |
ORPHA:183713 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... |
OMIM:619267 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glom... |
OMIM:619155 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... |
OMIM:601820 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... |
OMIM:162000 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... |
ORPHA:85450 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst |
OMIM:615987 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ... |
OMIM:273800 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... |
OMIM:602088 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... |
OMIM:615993 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal platelet function |
ORPHA:231393 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... |
OMIM:617056 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Nephronophthisis 18 |
|
Retinitis, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, H... |
OMIM:615862 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Polyarticular arthritis, Increased circulating antibody level, Recurrent infections |
OMIM:235900 |
Shigellosis |
|
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... |
ORPHA:810 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine... |
OMIM:614455 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... |
ORPHA:36234 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis, Impaired epinephri... |
OMIM:615888 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Pedal edema, Nephrocalcinosis, Gast... |
ORPHA:342 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas |
OMIM:134610 |
Glanzmann Thrombasthenia |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla... |
ORPHA:849 |
Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity, Hyperlipidemia |
ORPHA:329249 |
Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Mac... |
OMIM:616629 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Alstrom Syndrome |
|
Chronic active hepatitis, Decreased response to growth hormone stimulation test, Tubulointerstiti... |
OMIM:203800 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Renal dyspl... |
OMIM:314300 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Myocardial infarction, Intestinal perforation, Rectal prolapse, Bloody diarrhea, Hemoglob... |
ORPHA:90038 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Renal cyst, Dehydration, Hepatic fibrosis, Neonatal death, ... |
OMIM:263200 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar... |
OMIM:219730 |
Alport Syndrome |
|
Thickening of glomerular capillary wall, Mesangial hypercellularity, Vomiting, Nephritis, Tubuloi... |
ORPHA:63 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... |
ORPHA:439232 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Seizure, Pachygyria, Lissencephaly, Bilateral tonic-clonic seizure |
OMIM:614499 |
Oligomeganephronia |
|
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Glomerul... |
ORPHA:2260 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, M... |
ORPHA:347 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo... |
OMIM:601859 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure |
OMIM:619964 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Senior-Loken Syndrome |
|
Premature ovarian insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrono... |
ORPHA:3156 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Eczema, Autoimmunity, Abnormal immunoglobulin level, Recurrent mycobacterial infectio... |
ORPHA:98813 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... |
OMIM:187950 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Impaired collagen-induced platelet a... |
OMIM:614201 |
Frasier Syndrome |
|
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca... |
OMIM:136680 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Fever |
ORPHA:319600 |
Microscopic Polyangiitis |
|
Sinusitis, Uveitis, Gastrointestinal infarctions, Glomerulopathy, Vasculitis, Oliguria, Fever, Ep... |
ORPHA:727 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Crypt... |
OMIM:617575 |
Obesity And Hypopigmentation |
|
Overgrowth, Hyperinsulinemia, Obesity |
OMIM:620195 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... |
OMIM:616730 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Retinal cotton wool spot, Normocytic anemia, Proteinuria, Pneumonia,... |
ORPHA:247691 |
Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Peritonitis, Constipation, Menorrhagia |
ORPHA:168816 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3 |
|
Pulmonary fibrosis, Usual interstitial pneumonia |
OMIM:616373 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Back pain, Recurrent urinary tract infections, Anorexia, Abdominal pain, Leukocytosis, Recurrent ... |
ORPHA:51890 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
Idiopathic Pulmonary Fibrosis |
|
Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Gastroesophageal refl... |
ORPHA:2032 |
Glycogen Storage Disease Iv |
|
Edema, Polyhydramnios, Portal hypertension, Esophageal varix, Hydrops fetalis, Hepatosplenomegaly... |
OMIM:232500 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati... |
ORPHA:397596 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, External genital hypoplasia, Partial atrioventric... |
OMIM:615996 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hemolytic anemi... |
OMIM:619487 |
Schnitzler Syndrome |
|
Fatigue, Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Bone pain, Increa... |
ORPHA:37748 |
Preeclampsia |
|
Increased body mass index, Helicobacter pylori infection, Proteinuria, Abnormality of the kidney,... |
ORPHA:275555 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hypothyr... |
ORPHA:79259 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... |
OMIM:256300 |
Lead Poisoning |
|
Abnormal T cell morphology, Tubulointerstitial nephritis, Vomiting, Decreased male libido, Nausea... |
ORPHA:330015 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Large vessel vasculitis, Retrograde ejacul... |
ORPHA:49041 |
Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Pachygyria, Bilateral tonic-clonic seizure, Polymicr... |
OMIM:614115 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Immunodeficiency 27A |
|
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Anorexia, Splenomegaly, L... |
OMIM:209950 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion of memory B cells, ... |
OMIM:618459 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Seborrheic dermatitis, Acne, Elevated urinary prostaglandin E2 level |
OMIM:167100 |
Tatsumi Factor Deficiency |
|
Prolonged bleeding time |
OMIM:272650 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Prolonged bleeding time, Epistaxis, Abnormality of the kidney, Myocardial infarction, Impaired AD... |
OMIM:155100 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... |
OMIM:618913 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas... |
ORPHA:1830 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Ch... |
OMIM:140000 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia |
OMIM:618681 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism |
OMIM:615982 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... |
ORPHA:183 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... |
OMIM:137920 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... |
OMIM:615006 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Eczema, Ventricular septal defect, Minimal change glome... |
OMIM:618348 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p... |
OMIM:615008 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... |
OMIM:615382 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia |
OMIM:124900 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... |
ORPHA:2552 |
Mpdu1-Cdg |
|
Decreased response to growth hormone stimulation test, Eczema, Elevated circulating creatine kina... |
ORPHA:79323 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypergonadotropic hypogonadism, Recurrent myoglobinuria, Elevated circulating creatine kinase con... |
OMIM:607426 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Autoimmunity, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiect... |
OMIM:616005 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:603909 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Tubulointerstitial fibrosis |
OMIM:263000 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Pedal edema, Tubuloint... |
ORPHA:449395 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... |
OMIM:619970 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Lower limb pain, Monoclonal immunoglobulin M proteinemia |
ORPHA:209004 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Perifoveal ring of hype... |
OMIM:240300 |
Lissencephaly 3 |
|
Bilateral tonic-clonic seizure, Periventricular laminar heterotopia, Pachygyria, Gray matter hete... |
OMIM:611603 |
Coccidioidomycosis |
|
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... |
ORPHA:228123 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg... |
OMIM:618347 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
C Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Renal cortical... |
OMIM:211750 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Fever, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Skin rash, Card... |
ORPHA:139402 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Polymicrogyria, Bilateral Temporooccipital |
|
Polymicrogyria, Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impair... |
OMIM:612691 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral renal agenesis, Ectopic kidn... |
OMIM:617641 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disea... |
OMIM:614376 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia... |
OMIM:308230 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Cryptorchidism, Rod-cone dystrophy, Polyhydramnios |
OMIM:615633 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Cholestatic liver disease, Chronic kidney disease, Abnormal tubulointerstitial morph... |
OMIM:602114 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipi... |
OMIM:232220 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Hypoalbuminemia, Hepatic fibrosis, Intractable diarrhea, Bifid uvula, Hepatomega... |
OMIM:222470 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... |
OMIM:619991 |
Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts, Feeding difficulties, Hyperkeratosis, Erythroderma, Failure to thrive |
OMIM:609180 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... |
OMIM:308240 |
Prune Belly Syndrome |
|
Atrial septal defect, Multicystic kidney dysplasia, Renal insufficiency, Hydroureter, Recurrent u... |
ORPHA:2970 |
Kerion Celsi |
|
Fever, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ski... |
ORPHA:499 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Vomi... |
ORPHA:37042 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... |
ORPHA:2924 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis, Neutropenia, Atrial septal defect,... |
OMIM:617303 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Chronic constipation, Glomerula... |
OMIM:619428 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hypophosphatemi... |
OMIM:276700 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Hypertension, Abnormal renal corticomedullary diff... |
OMIM:616733 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Hydrone... |
OMIM:154230 |
Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis |
OMIM:614009 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Dehydration, Sex re... |
ORPHA:168558 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Convu... |
OMIM:617389 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pharyngalgia, Splenomegaly,... |
OMIM:614699 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Secondary Intestinal Lymphangiectasia |
|
Edema, Lymphedema, Intestinal bleeding, Vomiting, Hypocholesterolemia, Constrictive pericarditis,... |
ORPHA:90363 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis |
ORPHA:3033 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Dehy... |
OMIM:251000 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Abnormal cortical gyration, Infantile spasms, Bilater... |
ORPHA:65683 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... |
OMIM:617241 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... |
ORPHA:343 |
Lissencephaly 10 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:618873 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Trisomy X |
|
Multicystic kidney dysplasia, Secondary amenorrhea, Renal hypoplasia/aplasia |
ORPHA:3375 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4 |
|
Honeycomb lung, Pulmonary fibrosis |
OMIM:616371 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Episodic hyperhidrosis, Adrenal pheochromocytoma, Positive regitine blocking test, Nausea, Extraa... |
ORPHA:276621 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Optic atrophy, Renal hypoplasia, Hypertensio... |
OMIM:617595 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal hemiclonic seizure, Visually-in... |
OMIM:607208 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu... |
OMIM:613779 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease |
OMIM:615995 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus |
OMIM:613721 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hyperlipidemia, Myoglobinuria, Red-brown urine, Stage 5 chronic kidney disease, Ren... |
ORPHA:157 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... |
OMIM:613845 |
Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... |
OMIM:619605 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, High, narrow... |
ORPHA:228308 |
Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Pulmonary fibrosis |
ORPHA:2111 |
Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Simplified gyral pattern, Status epilepticus, Myoclonus, Generali... |
OMIM:616540 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Hepatoblastoma, Cardiomegaly, Cryptorchidism, Pan... |
OMIM:130650 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... |
ORPHA:276580 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclero... |
OMIM:232200 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:604367 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr... |
OMIM:187800 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure |
ORPHA:369873 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Nephrogenic diabetes insip... |
OMIM:208085 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis |
OMIM:178550 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... |
OMIM:300400 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Sepsis, Leukopenia, Decreased circulating IgG ... |
OMIM:301082 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia |
ORPHA:79084 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Diarrhea, Elevated circulating creatinine concentration, Hy... |
OMIM:223900 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Hyperhidrosis, Bloody diarr... |
ORPHA:90068 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency |
OMIM:615991 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaundice, Renal cyst, Hepatosplenom... |
OMIM:619902 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614870 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Anorexia, Abdominal pain, Thrombocytopeni... |
ORPHA:79312 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal circulating hormone concentration, Abnormal ... |
ORPHA:314478 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis, Congestive heart failure, Diabetes insipidus, Polyhydramnios |
ORPHA:500533 |
Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
Nephrosialidosis |
|
Renal insufficiency, Pericardial effusion, Nephrotic syndrome, Death in childhood, Nephropathy |
OMIM:256150 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Miscarriage, Female infertility |
OMIM:619176 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Feeding difficulties in infancy, Renal cyst, High palate, Atrial s... |
OMIM:614866 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Cryptorchi... |
OMIM:214100 |
Bartter Syndrome, Type 1, Antenatal |
|
Fever, Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuri... |
OMIM:601678 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... |
OMIM:619773 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Autoimmunity, Abnormal lymphocyte morphology, Recurrent infec... |
OMIM:609529 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Abdominal pain, Diarrhe... |
ORPHA:54057 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:245570 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology |
ORPHA:33111 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Constip... |
ORPHA:225 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros... |
ORPHA:470 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Cervi... |
ORPHA:2686 |
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Hypophosphatasia, Infantile |
|
Fever, Death in infancy, Elevated urine pyrophosphate, Polyhydramnios, Hypercalciuria, Intracrani... |
OMIM:241500 |
Urachal Cyst |
|
Abdominal mass, Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Abscess, ... |
ORPHA:488 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation, Epistaxis |
OMIM:609821 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Dehyd... |
OMIM:143880 |
Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:266100 |
Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:613722 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Predominantly... |
ORPHA:33001 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Chronic Recurrent Multifocal Osteomyelitis 3 |
|
Fever, Palmoplantar pustulosis, Osteomyelitis |
OMIM:259680 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Ventricular septal defect, Renal cortical cysts, Renal cyst, Coarctation of aor... |
ORPHA:1692 |
Continuous Spikes And Waves During Sleep |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... |
ORPHA:725 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... |
OMIM:613095 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... |
OMIM:607594 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Renal cyst, Increased total bilirubin |
OMIM:174050 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Stomatitis, Chronic pancreati... |
OMIM:232240 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5 |
|
Pulmonary fibrosis |
OMIM:618674 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Increased B cell count, Decreas... |
OMIM:615559 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Recurrent viral infect... |
OMIM:618048 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increa... |
ORPHA:251004 |
Primary Peritoneal Carcinoma |
|
Peritonitis, Constipation |
ORPHA:168829 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... |
OMIM:616346 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr... |
OMIM:616307 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... |
OMIM:617391 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fas... |
ORPHA:276575 |
Zika Virus Disease |
|
Maculopapular exanthema, Ankle swelling, Skin rash, Wrist swelling, Increased circulating IgM lev... |
ORPHA:448237 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... |
OMIM:615400 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Vomi... |
OMIM:617872 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... |
ORPHA:158057 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... |
ORPHA:911 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Anorexia, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent candida... |
ORPHA:169160 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... |
ORPHA:2869 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis, Osteoarthritis, Left ventricular hypertrophy, Coronary artery atherosclerosis |
OMIM:616833 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St... |
ORPHA:567546 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Episodic hyperhidrosis, Adrenal pheochromocytoma, Positive regitine bl... |
ORPHA:29072 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Death in infancy, Proteinuria,... |
OMIM:613404 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Listeriosis |
|
Liver abscess, Granulomatosis, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephalitis, ... |
ORPHA:533 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... |
OMIM:618845 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated circulating creatine kinase conce... |
OMIM:614576 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... |
OMIM:611773 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great... |
OMIM:231060 |
Schimke Immunoosseous Dysplasia |
|
Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Abnorma... |
OMIM:242900 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... |
ORPHA:227990 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Fever, Intestinal obstruction, Hepatomegaly, Elevated hepatic transa... |
ORPHA:131 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Hypertensive retinopathy, Abnormal urine sodium concentration, Nephrocalcino... |
ORPHA:320 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal aortic morphology, ... |
ORPHA:1166 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Chronic fatigue, Furuncle, Decreased circulating antibody level,... |
OMIM:618969 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... |
OMIM:619644 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Small for gestational age, Abdominal distention, Leukocytosis, Peritonitis, ... |
ORPHA:391673 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Seckel Syndrome 10 |
|
Retinal detachment, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated circula... |
OMIM:617253 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk... |
ORPHA:227982 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Hepatomegaly, Ventricular septal defect, Abnormal coronary ar... |
ORPHA:488618 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615127 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... |
ORPHA:90796 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney disease, Renal hypoplasia, Hy... |
OMIM:617661 |
Immunodeficiency, Common Variable, 11 |
|
Fatigue, Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion ... |
OMIM:615767 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections |
OMIM:606445 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia |
ORPHA:3316 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Recurrent opportunistic infections... |
ORPHA:277 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Autoimmune Lymphoproliferative Syndrome |
|
Non-Hodgkin lymphoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymph... |
ORPHA:3261 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Abnormal renal tubular resorption, Congestive heart failure, Dilated cardio... |
ORPHA:73224 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Abdo... |
ORPHA:91547 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... |
ORPHA:79085 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... |
ORPHA:358 |
Familial Focal Epilepsy With Variable Foci |
|
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... |
ORPHA:98820 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Trigeminal Neuralgia |
|
Trigeminal neuralgia, Ocular pain, Mandibular pain, Allodynia |
ORPHA:221091 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Abnormal... |
OMIM:613390 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular a... |
OMIM:146255 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... |
OMIM:619824 |
Bartter Syndrome, Type 2, Antenatal |
|
Fever, Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Hypercalciuri... |
OMIM:241200 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
OMIM:162350 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... |
ORPHA:758 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Fusariosis |
|
Brain abscess, Fasciitis, Lung abscess, Sinusitis, Abnormality of the kidney, Myositis, Hematolog... |
ORPHA:228119 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... |
OMIM:610205 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal abdomen morphology |
OMIM:211000 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Premature ovarian insufficiency, Ventricular septal defect, U... |
OMIM:613680 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Hyperammonemia, Failure to thrive, Anemia |
ORPHA:28 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Fever, Recurrent urinary tract infections, Abnormality of the upper ur... |
ORPHA:617 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Intestinal obstruction, Fasciitis, Myositis, Skin rash, Orchitis, Periorbital edema... |
ORPHA:32960 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Thoracic aortic aneurysm, Ileal atresia, Peritonitis, Patent ductus arteriosus, Megacysti... |
OMIM:619351 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... |
OMIM:194072 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... |
OMIM:614473 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Decreased platelet glyco... |
OMIM:603585 |
Nephronophthisis 19 |
|
Stage 5 chronic kidney disease, Bile duct proliferation, Renal interstitial fibrosis, Nephronopht... |
OMIM:616217 |
Dent Disease 2 |
|
Elevated circulating aspartate aminotransferase concentration, Chronic kidney disease, Elevated c... |
OMIM:300555 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney d... |
ORPHA:79147 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... |
ORPHA:84090 |
Interstitial Lung Disease 2 |
|
Usual interstitial pneumonia, Alveolar cell carcinoma, Pulmonary fibrosis, Elevated bronchoalveol... |
OMIM:178500 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig... |
ORPHA:100024 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... |
ORPHA:3032 |
Gaisböck Syndrome |
|
Myocardial infarction, Nephrocalcinosis, Increased circulating renin level, Cholecystitis, Hypovo... |
ORPHA:90041 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia |
OMIM:613730 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Renal insufficiency, Hypospadias, Meningocele, Renal cortical cysts, Gas... |
ORPHA:397715 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus |
OMIM:618924 |
Rhabdoid Tumor |
|
Nausea and vomiting, Renal neoplasm, Hypercalcemia, Poor appetite, Abdominal pain, Thrombocytopen... |
ORPHA:69077 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Renal cyst, Nephrocalcinos... |
ORPHA:445038 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... |
OMIM:619386 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... |
OMIM:618987 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f... |
OMIM:194080 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic ... |
OMIM:274150 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection... |
OMIM:300635 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... |
ORPHA:79233 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Abdominal symptom, Eosinophilia, Abscess, Peritonea... |
ORPHA:400 |
Epilepsy, Progressive Myoclonic 7 |
|
Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
OMIM:616187 |
Joubert Syndrome 15 |
|
Ambiguous genitalia, Micropenis, Nephronophthisis |
OMIM:614464 |
Nephronophthisis |
|
Renal insufficiency, Anemia |
ORPHA:655 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... |
OMIM:616033 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus |
OMIM:608105 |
Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... |
OMIM:300068 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Pylo... |
OMIM:618419 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Autoimmunity, Recurrent infections, Recurrent infection of the ... |
OMIM:137100 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Nephronophthisis |
ORPHA:474 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Focal impa... |
OMIM:617904 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Pachygyria, Simplified gyral pattern, ... |
OMIM:604317 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as... |
ORPHA:2088 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Atypical absence seizure, General... |
ORPHA:2382 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... |
OMIM:616139 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Menorr... |
ORPHA:182050 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin... |
OMIM:617638 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss, Neoplasm, Ascites |
ORPHA:168811 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis, Diabetes insipidus, Polyhydramnios |
OMIM:611087 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, I... |
OMIM:615285 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Nephrocalcinosis, Tubuloin... |
ORPHA:797 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure |
OMIM:616409 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re... |
OMIM:610188 |
Babesiosis |
|
Nausea and vomiting, Hemolytic anemia, Renal insufficiency, Hepatomegaly, Myocardial infarction, ... |
ORPHA:108 |
Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Complement Factor H Deficiency |
|
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... |
OMIM:609814 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia... |
ORPHA:97362 |
Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Prolonged bleeding time, Epistaxis, Impaired platelet aggregation, Abnormal dense granule content... |
OMIM:601399 |
Complex Regional Pain Syndrome |
|
Limb pain, Allodynia |
ORPHA:83452 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... |
ORPHA:363528 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Centralopathic Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures |
OMIM:117100 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... |
OMIM:607682 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thromb... |
OMIM:614470 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Boutonneuse Fever |
|
Maculopapular exanthema, Skin rash, Abdominal pain, Increased circulating IgG level, Increased ci... |
ORPHA:83313 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... |
OMIM:611590 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Patent ductus arteriosus, Hydronephrosis |
OMIM:619797 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Giant platelet... |
OMIM:231200 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:601068 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Retinitis Pigmentosa 59 |
|
Hepatomegaly, Cryptorchidism, Renal insufficiency, Micropenis |
OMIM:613861 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal t... |
ORPHA:289916 |
Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Occipital encephalocele, Multicystic kidney dysplasia |
OMIM:614209 |
Bleeding Disorder, Platelet-Type, 12 |
|
Joint hemorrhage, Intestinal bleeding, Impaired platelet aggregation, Epistaxis |
OMIM:605735 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Diarrhea, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:94086 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Diarrhea, Hepatic failure, Renal cyst, Steatorrhea, Proximal tubul... |
OMIM:602579 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent upper respiratory tract infections, Bone pain, Bronchiectasis, Decreased circulating to... |
OMIM:615139 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Feeding d... |
OMIM:608836 |
Lassa Fever |
|
Back pain, Abdominal pain, Sepsis, Increased circulating IgM level, Arthralgia, Chest pain, Asthe... |
ORPHA:99824 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Status epilepticus without prominent motor s... |
OMIM:204300 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure |
OMIM:617863 |
Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Umbilica... |
ORPHA:171839 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis |
OMIM:616963 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Rhe... |
OMIM:615816 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617171 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Epistaxis, Joint hemorrhage, Impaired platelet aggregation, Thrombocytop... |
OMIM:277480 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... |
OMIM:617831 |
Developmental And Epileptic Encephalopathy 43 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At... |
OMIM:617113 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... |
OMIM:615871 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in infancy, Proteinuria, Hematuria, Tubulointerstitial nephritis, Death in childhood |
OMIM:616901 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Epistaxis |
OMIM:614158 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thro... |
OMIM:613496 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Status epilepticus, Bilateral tonic-clonic seizure, Reduced bone mineral density |
OMIM:620200 |
Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Simplified gyral pattern, ... |
OMIM:619301 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... |
ORPHA:435660 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Nausea and vomiting, Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hype... |
ORPHA:27 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ... |
OMIM:611726 |
Acquired Ichthyosis |
|
Renal insufficiency, Recurrent skin infections, Lymphoma, Hyperkeratosis, Neoplasm, Palmoplantar ... |
ORPHA:454 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Vascular dilatation, Hepatomegaly, Polycystic kidney dysplasia, Increased circulating very long-c... |
OMIM:614859 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Melas |
|
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Vomi... |
ORPHA:550 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Abnormality of the kidney, Cleft palate, Tubulointerstitial nephritis, Enuresis, Aortic valve ste... |
ORPHA:459061 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Hypothyroidism, Lymphadenopathy, T ly... |
OMIM:607944 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti... |
OMIM:615238 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Hemangiomatosis, Renal hypoplasia/aplasia, Thro... |
ORPHA:2123 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Angiostrongyliasis |
|
Fatigue, Stiff neck, Increased circulating IgA level, Abdominal pain, Hypereosinophilia, Increase... |
ORPHA:74 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... |
ORPHA:435651 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... |
ORPHA:40923 |
Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Bloody diarrhea, Abnormality of the liver, Colitis, Hypop... |
ORPHA:84064 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s... |
OMIM:618999 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Diarrhea, Elevated urinary dopamine level, Elevated circul... |
ORPHA:230 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:179613 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Feeding difficulties, Ami... |
ORPHA:79238 |
Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Pleural effusion, Ascites, ... |
ORPHA:314473 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-o... |
ORPHA:36387 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Gastroesophageal reflux, Stage 5... |
OMIM:619603 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:610003 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Renal hypoplasia/aplasia, Cryptorchidism, Patent ductus arteriosus, Midshaft hyposp... |
ORPHA:2863 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Premature ovarian insufficiency, Hypospadias, Abnormality of ... |
ORPHA:363444 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Anal stenosis, Hypospadias, Heart block, Cryptorchidism, Cleft palate, Duoden... |
OMIM:617063 |
Hereditary Angioedema Type 1 |
|
Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of hands, Facial edema, Abn... |
ORPHA:100050 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Acne, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circula... |
ORPHA:99429 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Chronic oral candidias... |
OMIM:212050 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Dehydration, Nephrocalcinosis, Vomiting, Distal renal tubular acidosis |
OMIM:602722 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Flexion contracture, Focal tonic seizure, Myocloni... |
OMIM:617106 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Malabsorption, Abdominal pain, Chronic kidn... |
ORPHA:85445 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormality of the upper urinary tract |
ORPHA:1705 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:613608 |
Gray Platelet Syndrome |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal numb... |
OMIM:139090 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... |
OMIM:616100 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Renal lymphocytic tubulitis, Choroidal neovascularization, Sterile pyuria, Ren... |
ORPHA:91500 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:90051 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent... |
ORPHA:331235 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Neoplasm of head and neck, ... |
ORPHA:99867 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Anal fissure, Perianal abscess, Lymphadeni... |
OMIM:618935 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Optic disc pallor, Hepatomegaly, Portal hypertension, Unilateral r... |
OMIM:216360 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Vomiting |
OMIM:239199 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Pachygyria, Bilateral tonic-clonic seizure, Urinary incontinence |
ORPHA:329329 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren... |
ORPHA:275 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... |
OMIM:615398 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure |
OMIM:617709 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... |
OMIM:618587 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence... |
ORPHA:2704 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Peripheral arteriovenous fist... |
ORPHA:90308 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Coarctation of aorta, N... |
OMIM:617729 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Renal insufficiency, Abdominal pain, Jaundice, Increased body weight, Ascites, Incr... |
ORPHA:890 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration |
OMIM:616239 |
Majeed Syndrome |
|
Glomerulopathy, Hepatomegaly, Failure to thrive, Proteinuria, Acne, Cachexia, Congenital hypoplas... |
ORPHA:77297 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... |
OMIM:618723 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Tachycardia, ... |
ORPHA:542323 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
Peho-Like Syndrome |
|
Bilateral tonic-clonic seizure, Lissencephaly, Myoclonus, Status epilepticus, Pachygyria, Polymic... |
OMIM:617507 |
Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis |
OMIM:617105 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Myocardial infarction, Mesangial hypercellularity, Parap... |
ORPHA:91139 |
Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Vitreous haze, Vitreous floaters, Epiretinal membrane,... |
ORPHA:279914 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic... |
ORPHA:2968 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Lymphadenitis, Inflammation of the large inte... |
OMIM:615895 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbil... |
ORPHA:79303 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Hypogonadism, Testicular seminoma |
ORPHA:281090 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, B-cell lymphoma, Anorexia, Splenomegaly, Weight loss, ... |
ORPHA:52416 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Recurrent respiratory infections, Recurrent urinary tract infections, Lymphope... |
OMIM:620210 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Microp... |
OMIM:619189 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Developmental And Epileptic Encephalopathy 34 |
|
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... |
OMIM:616645 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Rec... |
OMIM:243700 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Lymphopenia, Eczema, Oligoarthritis, Decreased circulating tota... |
OMIM:619510 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure |
OMIM:619639 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Chronic constipation, Chroni... |
OMIM:609757 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure |
OMIM:616341 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Focal motor s... |
ORPHA:599373 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Abnormality of th... |
ORPHA:85443 |
Ssr4-Cdg |
|
Gastroesophageal reflux, Patent ductus arteriosus, Vomiting, Horseshoe kidney |
ORPHA:370927 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Fever, Arthritis, Conjunctivitis, Periodic fever |
OMIM:617772 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... |
OMIM:240950 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy, Nephrocalcino... |
OMIM:620152 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Hig... |
OMIM:617913 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibo... |
OMIM:618394 |
Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Simplified gyral pattern, ... |
OMIM:619302 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Abdominal pain, Increased circulating IgA level, Leukocytosis, Increased... |
OMIM:617099 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea, Oliguria,... |
ORPHA:188 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Neph... |
OMIM:145001 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Horseshoe kidney |
OMIM:218350 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
Malaria |
|
Nausea and vomiting, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyp... |
ORPHA:673 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Precocious puberty, High, narrow palate, Patent ductus ... |
ORPHA:369837 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased ... |
OMIM:614069 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulce... |
ORPHA:99880 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydronephrosis |
ORPHA:251046 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Stroke, Abnormal thalamus morphology |
ORPHA:557003 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Renal hypoplasia, Pyelonephritis,... |
OMIM:181270 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Elevat... |
OMIM:617478 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin... |
OMIM:201475 |
Autoimmune Hepatitis |
|
Spider hemangioma, Fulminant hepatitis, Increased circulating IgG level, Inflammation of the larg... |
ORPHA:2137 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608636 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulce... |
ORPHA:143 |
Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... |
ORPHA:101071 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... |
OMIM:245900 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... |
ORPHA:411536 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Skin rash, Villous atrophy, Elevated circulating C-reactive prot... |
OMIM:616050 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... |
OMIM:208540 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... |
OMIM:607745 |
Microvillus Inclusion Disease |
|
Villous atrophy, Diarrhea, Hypovolemia, Dehydration, Nephrocalcinosis, Abnormal small intestinal ... |
ORPHA:2290 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Primary hyperparathyroidism, Hypercalciuria, Nephrocalcin... |
ORPHA:99879 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, Retrograde ejaculati... |
OMIM:223360 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Odynophagia, Hemoglobinuria, Leukopenia, Renal Fanconi... |
ORPHA:447 |
Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Crossed fused renal ectopia, Hypoplastic right heart, Ventricular septal de... |
OMIM:618142 |
Laurence-Moon Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Congenital hepatic fibrosis, Displaceme... |
ORPHA:2377 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia, Gout |
ORPHA:510 |
Premature Ovarian Failure 14 |
|
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... |
OMIM:618014 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hypoparathyroidism, Decreased circulating parathyroid hormone level |
OMIM:146200 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Autoimmunity, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurr... |
OMIM:240500 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Recurrent infec... |
OMIM:619774 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... |
ORPHA:110 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Sepsis, Arthralgia, Cholecystitis, Decreased circu... |
ORPHA:183675 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Nephrotic syndrome, Renal insufficiency, Cardiomyopathy |
OMIM:105120 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Atrial septal defect, Vesicoureteral reflux, Renal hypoplas... |
OMIM:118450 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:620235 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Hypertriglyceridemia, Adipose ti... |
ORPHA:528 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Bilateral tonic-clonic seizure, Atonic seizure |
OMIM:309530 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Gout, Hypertension, Polycysti... |
OMIM:618061 |
Rhyns Syndrome |
|
Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas... |
OMIM:602152 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Renal cyst, Fibrofolliculoma, Multiple l... |
OMIM:135150 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Diarrhea, Atrioventricular block, Cardiomyopathy, Impotence, Constipation, Nephropa... |
ORPHA:85447 |
Prune Belly Syndrome |
|
Hydroureter, Cryptorchidism, Patent ductus arteriosus, Xerostomia, Congenital posterior urethral ... |
OMIM:100100 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent fractures, Cra... |
OMIM:147060 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Hyperuricemia, Arr... |
ORPHA:3222 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Ventricular septal defect, Renal cyst, Horseshoe kidney, Intrahepatic bi... |
OMIM:614815 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Allodynia |
ORPHA:137596 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Focal impaired awareness seizure, S... |
ORPHA:330050 |
Liddle Syndrome |
|
Renal insufficiency, Hypertension, Hypokalemia, Constipation, Cerebral ischemia, Nephropathy, Arr... |
ORPHA:526 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... |
ORPHA:90280 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:151660 |
Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Myocardial nec... |
OMIM:260400 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
ORPHA:208441 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Hypog... |
OMIM:615994 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Irritability, Hyposthenuria, Decreased... |
OMIM:300539 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Dilatation of the ventricular cavity, Recurrent pneumonia, Py... |
ORPHA:90349 |
Bernard-Soulier Syndrome |
|
Partially duplicated kidney, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hemat... |
ORPHA:274 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal pulmonary interstitial morphology |
ORPHA:401835 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Flexion contracture, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal on... |
OMIM:618856 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Constipati... |
ORPHA:84085 |
Landau-Kleffner Syndrome |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Generalize... |
ORPHA:98818 |
Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se... |
OMIM:617711 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... |
ORPHA:276 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... |
OMIM:202700 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... |
ORPHA:363400 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Dysphagia,... |
ORPHA:488627 |
Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:139406 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... |
OMIM:121300 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
Castleman Disease |
|
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Elevated circulat... |
ORPHA:160 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... |
OMIM:605021 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Joubert Syndrome 3 |
|
Atrial septal defect, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Diff... |
OMIM:614034 |
Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Generalized myoclonic-atonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Status ep... |
OMIM:619701 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Reduced... |
OMIM:242860 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... |
OMIM:614018 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... |
OMIM:617350 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Brain Small Vessel Disease 2 |
|
Focal-onset seizure, Subcortical heterotopia, Bilateral tonic-clonic seizure, Polymicrogyria |
OMIM:614483 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion, Polycystic kidney dysplasia, Ambigu... |
OMIM:613885 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Se... |
OMIM:617976 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria, Arthritis |
ORPHA:375 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:2134 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, T lymphocytopenia, Arthritis, B... |
OMIM:601457 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Renal insufficiency |
ORPHA:254857 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Precocious puberty, Insulin-resistant diabetes mellitu... |
ORPHA:769 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Diarrhea, Uveitis, Hypohidrosis, ... |
ORPHA:90321 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Facial edema, Xerostomia, Tubulointerstitial nephritis, Abnormal optic nerve morphology... |
ORPHA:79078 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Macrothrombocytopenia, Absence o... |
OMIM:187900 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epil... |
OMIM:610539 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Acne, Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary rete... |
ORPHA:2795 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
Cryptococcosis |
|
Fever, Osteomyelitis, Lymphoid leukemia, Abnormal retinal morphology, Pneumonia, Mediastinal lymp... |
ORPHA:1546 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Limitation of movement at ankles, Bilateral tonic-clonic seizure, Urinary incontinence, Limited h... |
ORPHA:100988 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Vomiting, Hypergalactosemia, F... |
OMIM:230350 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Riddle Syndrome |
|
Pulmonary fibrosis |
OMIM:611943 |
Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocy... |
OMIM:619164 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:615362 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent upper respirat... |
OMIM:619752 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Arthropathy, Recurrent respiratory infections, Eosinophilia, Eczema, Craniosynostosis, Keratitis,... |
OMIM:618523 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, Generalized non-motor (absen... |
ORPHA:86909 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... |
OMIM:619157 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Hypertension, Mitral regurgi... |
OMIM:173900 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia |
ORPHA:971 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis |
OMIM:270150 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Renal insufficiency, Decreased body weight, Acute hepatic failure, Ja... |
ORPHA:1667 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Fatigue, Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti... |
ORPHA:562639 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, Nephrocalcinosi... |
OMIM:601198 |
Hypocomplementemic Urticarial Vasculitis |
|
Uveitis, Conjunctivitis, Glomerulopathy, Hepatomegaly, Abdominal pain, Pericardial effusion, Lymp... |
ORPHA:36412 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Chronic diarrhea, Abnormal heart morphology, Neph... |
ORPHA:79327 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Choroidal neovascularization, Retinal crystals, Calcium oxala... |
OMIM:259900 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... |
OMIM:614700 |
Gapo Syndrome |
|
Hepatomegaly, Prominent scalp veins, Retinal arteriolar tortuosity, High, narrow palate, Optic at... |
OMIM:230740 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Prot... |
OMIM:212065 |
Brucellosis |
|
Liver abscess, Rheumatoid factor positive, Anorexia, Knee osteoarthritis, Increased circulating I... |
ORPHA:1304 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Fever, Tachycardia, Malignant hyperthermia |
OMIM:601887 |
Emanuel Syndrome |
|
Atrial septal defect, Recurrent urinary tract infections, Truncus arteriosus, Ventricular septal ... |
OMIM:609029 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomy... |
OMIM:614922 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Patent ductus arteriosu... |
ORPHA:2547 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Glutaric aciduria, 3-Methylglutaric aciduria,... |
ORPHA:26791 |
Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... |
OMIM:618187 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:617562 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the spleen, Anorectal anomaly, Abnormality of the ureter... |
ORPHA:1834 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Renal cyst, Vomiting, Abnormal pericardium morphology, Portal hyperte... |
ORPHA:284 |
Developmental And Epileptic Encephalopathy 109 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... |
OMIM:620145 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh... |
ORPHA:90060 |
Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Vomiting, Dysphagia, Te... |
OMIM:300322 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Conge... |
OMIM:269920 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Renal magnesium wasting, Nephrocalcinosis, Renal potassium wasting |
ORPHA:564178 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S... |
OMIM:267010 |
Congenital Myopathy 19 |
|
Cryptorchidism, Renal atrophy, Hydronephrosis, Dysphagia |
OMIM:618578 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Ventricular septal defect, Nephronophthisis |
OMIM:615630 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hep... |
OMIM:604416 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Vira... |
ORPHA:91138 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Verheij Syndrome |
|
Branchial cyst, Renal agenesis, Ventricular septal defect, Renal hypoplasia, Renal cyst, Truncus ... |
OMIM:615583 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Villous atrophy, Functional abnormality of the bladder, T ... |
ORPHA:391487 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Osteopenia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic se... |
OMIM:617810 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Ventricular septal defect, Abnormal medullary pyramid morphology, Recur... |
ORPHA:79243 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Microphthalmia, Syndromic 9 |
|
Pulmonary artery atresia, Atrial septal defect, Pelvic kidney, Single ventricle, Cryptorchidism, ... |
OMIM:601186 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Insulin resistance, Obesity, Type II diabetes mellitus, Hypercholesterolemia |
OMIM:615703 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Intestinal perforation, Secretory diar... |
ORPHA:544482 |
Legionnaires Disease |
|
Anorexia, Infectious encephalitis, Hyponatremia, Abdominal pain, Hepatitis, Lymphadenopathy, Hypo... |
ORPHA:549 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... |
OMIM:616809 |
Immunodeficiency 43 |
|
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... |
OMIM:241600 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... |
OMIM:619317 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Polyhydramnios, Patent ductus arteriosus, Nephrocalcinosis, High palate, Neutropenia, Hypothyroidism |
OMIM:618005 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Patent ductus arteriosus, Methylmaloni... |
OMIM:614857 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... |
OMIM:615842 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin... |
ORPHA:3467 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:612621 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Ac... |
ORPHA:416 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation, Epistaxis |
OMIM:614076 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... |
OMIM:618282 |
Trisomy 8P |
|
Cryptorchidism, Fetal pyelectasis, Malrotation of small bowel, Annular pancreas, Heart murmur, Cl... |
ORPHA:264450 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Abdominal cramps, Allodynia, Dysphagia, Abdominal pain |
OMIM:603041 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Myocl... |
OMIM:618497 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:619000 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Desq... |
OMIM:610921 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia... |
OMIM:618495 |
Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... |
OMIM:615859 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hy... |
ORPHA:508 |
Trisomy 13 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormality of the ureter, M... |
ORPHA:3378 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Hypospadias, Truncus arteriosus, Ventricular septal defect, Cryptorchidism,... |
OMIM:617516 |
Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Intestinal bleeding, Gastroesophageal reflux,... |
ORPHA:90291 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypospadias |
OMIM:618330 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aor... |
ORPHA:314588 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Telangiectasia of the skin, Cryptorchidi... |
ORPHA:85321 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Renal magnesium wasting, Nephrocalcinosis, Polyuria, Renal potassium wasting |
OMIM:618314 |
Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperpl... |
ORPHA:263455 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Vomiting, ... |
ORPHA:53035 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:615397 |
Actinic Prurigo |
|
Cheilitis, Pyoderma, Glomerulonephritis |
OMIM:174770 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Pulmonary fibrosis |
OMIM:617175 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Thrombocytopenia, Cryptorchidism, Patent ductus arteriosus, Elev... |
OMIM:608104 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia |
ORPHA:2668 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... |
OMIM:613960 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Antinuclear antibody positiv... |
OMIM:620321 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset |
ORPHA:163721 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Anuria, Elevated circulating creatine kinase c... |
ORPHA:99829 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Aminoaciduria, Proximal tubulopathy, Vomit... |
OMIM:612075 |
Axial Osteomalacia |
|
Polycystic liver disease, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:109130 |
Meacham Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Conotruncal defect, Abnormal fallopian tube morph... |
ORPHA:3097 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, N... |
OMIM:616026 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Myotonic Dystrophy 2 |
|
Tachycardia, Premature ventricular contraction, Right bundle branch block, Oligozoospermia, Decre... |
OMIM:602668 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Hydranencephaly, Renal dysplasia |
OMIM:236500 |
Immunodeficiency, Common Variable, 10 |
|
Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Recurrent viral upper respiratory ... |
OMIM:615577 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Hypospadias, Eczema, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent duc... |
ORPHA:500159 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Leukopenia, Vomiting, Nephritis, Abdominal pain, Raynaud phenomenon, Pericardial effusi... |
ORPHA:93552 |
Perlman Syndrome |
|
Inguinal hernia, Hyperinsulinemia, Femoral hernia, Tall stature |
ORPHA:2849 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus |
OMIM:254800 |
Williams Syndrome |
|
Hypoplasia of penis, Myocardial infarction, Cardiomegaly, Periorbital edema, Abnormal cerebral va... |
ORPHA:904 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a... |
OMIM:166300 |
Factor V Deficiency |
|
Prolonged bleeding time, Prolonged prothrombin time, Epistaxis |
OMIM:227400 |
Emanuel Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis, C... |
ORPHA:96170 |
Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Uveitis, Bloody diarrh... |
ORPHA:99826 |
Diaphanospondylodysostosis |
|
Myelomeningocele, Multiple renal cysts |
ORPHA:66637 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin l... |
ORPHA:163971 |
Muckle-Wells Syndrome |
|
Renal insufficiency, Maculopapular exanthema, Elevated circulating C-reactive protein concentrati... |
OMIM:191900 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Galactokinase Deficiency |
|
Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Hyperc... |
ORPHA:79237 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Cleft p... |
OMIM:305400 |
Angioedema, Hereditary, 3 |
|
Intestinal edema, Pharyngeal edema, Facial edema, Angioedema, Vomiting |
OMIM:610618 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Increased circulating interl... |
ORPHA:158061 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
49,Xxxyy Syndrome |
|
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... |
ORPHA:261534 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Joint hemorrhage, Aortic valve s... |
OMIM:193400 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Papa Syndrome |
|
Fatigue, Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, ... |
ORPHA:69126 |
Epilepsy, Progressive Myoclonic, 8 |
|
Action myoclonus, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:616230 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... |
ORPHA:2198 |
Chronic Beryllium Disease |
|
Pulmonary fibrosis, Hypersensitivity pneumonitis, Lymphocytic interstitial pneumonia, Reticulonod... |
ORPHA:133 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Diarrhea, Vom... |
OMIM:106100 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:620317 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperparathyroidis... |
OMIM:620366 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Abnormal EKG, Proteinuria, Bowel incontinence, Myocardial infa... |
ORPHA:330001 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Skin rash, Splenomegaly, Hyperhidrosis, Nephrocalcinosis |
ORPHA:53715 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Chorioretinal dysplasia, Dehydration, Oligosacchariduria, Nephrocalcinosis, ... |
ORPHA:534 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Renal atrophy, Constipation, Vesicouretera... |
OMIM:618659 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis |
OMIM:314000 |
Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure |
OMIM:104290 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Acute kidney ... |
ORPHA:411543 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Ascites, Abnormal cardiac septum morpholo... |
OMIM:608776 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs... |
ORPHA:35078 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:301020 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Psoriasiform dermatitis, Diabetes melli... |
ORPHA:2237 |
Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra |
OMIM:300323 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Choroidal neovascularization, Adrenal calcification, Edem... |
ORPHA:51608 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig... |
OMIM:219800 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level |
OMIM:300636 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, Cryptorchidism, Patent du... |
ORPHA:261344 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, P... |
ORPHA:93111 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Bowel incontinenc... |
ORPHA:3027 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Uv... |
OMIM:193235 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617082 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... |
ORPHA:208447 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, H... |
OMIM:105200 |
Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effusion, Pulmo... |
OMIM:612387 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration |
OMIM:614862 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb... |
OMIM:613855 |
Developmental And Epileptic Encephalopathy 37 |
|
Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:616981 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Anterior uveitis, Colitis, Skin rash |
OMIM:616744 |
Leishmaniasis |
|
Fatigue, Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomegaly, ... |
ORPHA:507 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... |
OMIM:611548 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Bilateral tonic-clonic seizure, Ankle flexion contracture, Flexion contracture, ... |
OMIM:617468 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Cryptorchidism, Heart murmur, Renal cyst, Horseshoe kidney, Abnormal v... |
ORPHA:166035 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Intestinal obstruction, Elevated circulating C-reactive protein ... |
ORPHA:449400 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... |
ORPHA:480536 |
Yao Syndrome |
|
Ventricular hypertrophy, Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal... |
OMIM:617321 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... |
OMIM:300554 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:609056 |
Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Dilatation of the ventricular cavity, Bronchiectasis, Pyelonephritis, ... |
ORPHA:90348 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Lym... |
OMIM:618886 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Renal insufficiency, Ambiguous genitalia, Hypogonadotropic hypogonadism, Ve... |
OMIM:617159 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta... |
OMIM:191800 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Seizure, Polymicrogyria, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:250972 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Medullary nephrocalcinosis, Pulmonic stenosis |
OMIM:613312 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst |
OMIM:263630 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
Progressive Myoclonic Epilepsy Type 3 |
|
Bilateral tonic-clonic seizure, Chin myoclonus, Photosensitive myoclonic seizure, Myoclonus, Limb... |
ORPHA:263516 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Hypospadias, Malformation of the hepatic ductal plate, Anencephaly, Rena... |
OMIM:614175 |
Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Ocular pain, Leukocytosi... |
ORPHA:3392 |
Bardet-Biedl Syndrome 6 |
|
Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst |
OMIM:605231 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity |
OMIM:615983 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Hypoplasia of penis, Aganglionic megacolon, Malabsorption, Cryptorchidism, Pate... |
ORPHA:452 |
Guanidinoacetate Methyltransferase Deficiency |
|
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Generalized myoclonic ... |
ORPHA:382 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cho... |
OMIM:124000 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
ORPHA:79137 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss |
ORPHA:64741 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Bilateral tonic-clonic seizure, Increased level of gamma-... |
OMIM:271980 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria, Hypoparathyroidism |
OMIM:156400 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid aortic valve, Bowel incontinence,... |
ORPHA:261494 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... |
ORPHA:1046 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Intralobular septal thickening, Elevated bronchoalveolar lava... |
OMIM:619611 |
Thyrocerebroretinal Syndrome |
|
Nephritis |
OMIM:274240 |
Immunodeficiency 104 |
|
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... |
OMIM:608971 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Sinus tachycardia, Hypercalcemia, Cerebral hemorrhage, Elevated u... |
ORPHA:94080 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Hydronephrosis |
OMIM:620327 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin resistance, Fastin... |
ORPHA:2298 |
Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis media, Recurrent cand... |
ORPHA:572 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... |
OMIM:243150 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614322 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con... |
ORPHA:732 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Cleft palate, Weight loss, Feeding difficulties, Aspiration ... |
ORPHA:141152 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Urethral stricture, Failure to thrive in infancy, Increased circulating interleukin 8 concentrati... |
OMIM:301220 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Polyhydramnios, Pneumonia, Cryptorchidism,... |
OMIM:603467 |
Mirage Syndrome |
|
Adrenal hypoplasia, Intracranial hemorrhage, Leukopenia, Gastroesophageal reflux, Microphallus, A... |
OMIM:617053 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Nausea and vomiting, Dys... |
ORPHA:36426 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Seizure, Polymicrogyria, Bilateral tonic-clonic seizure |
ORPHA:209370 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Hiatus ... |
OMIM:251300 |
Seizures, Benign Familial Infantile, 1 |
|
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:601764 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Gastroesophageal reflux, Atr... |
ORPHA:457193 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... |
OMIM:301500 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... |
OMIM:619616 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Bilateral tonic-clonic seizure |
OMIM:617862 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:619191 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Nephropathy, ... |
ORPHA:324 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:204200 |
Autosomal Dominant Hypocalcemia |
|
Eczema, Congestive heart failure, Optic atrophy, Hypercalciuria, Nephrocalcinosis, Hypotension, A... |
ORPHA:428 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Intestinal malrotation, Polyhydramnios, Asplenia, Cryptorch... |
ORPHA:99776 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Nausea and vomiting, Dys... |
ORPHA:537 |
Developmental And Epileptic Encephalopathy 66 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... |
OMIM:618067 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancreatic islet c... |
ORPHA:97289 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Hypospadias, Ventricular septal defect, Parachute mitral valve, Cryptorchidism, ... |
OMIM:618316 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Micropenis, Pancreatic hypop... |
OMIM:602782 |
Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Diarrhea, Hyperprolinemia... |
ORPHA:79101 |
Odontochondrodysplasia 1 |
|
Death in infancy, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Atrial septal defect, Hydron... |
OMIM:614846 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemi... |
ORPHA:171 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Brady... |
OMIM:617397 |
Limited Cutaneous Systemic Sclerosis |
|
Gastroesophageal reflux, Pulmonary fibrosis, Dysphagia |
ORPHA:220402 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, C... |
ORPHA:39041 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Seizure, Bilateral tonic-clonic seizure |
ORPHA:488635 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... |
OMIM:137940 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intest... |
ORPHA:100078 |
Pgm3-Cdg |
|
Rheumatoid factor positive, Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased... |
ORPHA:443811 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... |
OMIM:614450 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Eczema, Thrombocy... |
OMIM:304790 |
Severe Canavan Disease |
|
Seizure, Bilateral tonic-clonic seizure, Joint stiffness |
ORPHA:314911 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:301050 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Reticular pattern on pulmonary HRCT, Gastroesophageal reflux, Pulmonary fibrosis, Usual interstit... |
OMIM:614742 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Elevated circulating creatinine concentration, Hypertension, Portal ... |
OMIM:619111 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Autoimmunity, Thrombocytopenia, Recurrent upper respiratory tract infectio... |
OMIM:615758 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Miscarriage, Infertility, Abnormal lymph node morphology |
OMIM:136580 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Macular coloboma, Renal magnesium wasting, Rod-cone dystrophy... |
OMIM:248190 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus |
OMIM:617290 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic... |
ORPHA:1988 |
Diffuse Cutaneous Systemic Sclerosis |
|
Dyspareunia, Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Xerostomi... |
ORPHA:220393 |
Nocardiosis |
|
Fever, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonit... |
ORPHA:31204 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma... |
ORPHA:2075 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Hyperphosphaturia, Decreased circulating parathyroid hor... |
ORPHA:157215 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Hypochromic microcytic ... |
OMIM:619147 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Malabsorption, Renal tubular dysfunction, ... |
ORPHA:213 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of ... |
ORPHA:464329 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C... |
ORPHA:900 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, A... |
OMIM:617780 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h... |
ORPHA:96179 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Malformation of the hepatic ductal plate, Asplen... |
OMIM:615415 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Hypoplastic lef... |
ORPHA:261290 |
Cystinuria |
|
Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia |
ORPHA:214 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... |
ORPHA:3243 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Intralobular septal thickening, Des... |
OMIM:610913 |
Idiopathic Achalasia |
|
Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level, Recurr... |
ORPHA:930 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Ventricular septal defect, Renal agenesis, Pat... |
OMIM:220500 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatomegaly, Peria... |
OMIM:612541 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C... |
ORPHA:411634 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal blood ion concentration, Renal cyst, Squamous cell carcinoma, Gastro... |
ORPHA:79404 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, In... |
OMIM:620010 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis, Constipation |
ORPHA:73246 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... |
ORPHA:2473 |
Erythema Elevatum Diutinum |
|
Myalgia, Arthralgia, Increased circulating antibody level, Skin rash |
ORPHA:90000 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Retinal dystrophy, Malformation of the hepatic ductal plate, Renal magnesium wastin... |
OMIM:218330 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Hiatus hernia, Panc... |
OMIM:610199 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Autoimmune thrombocytopenia, Lym... |
OMIM:102700 |
Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Abnormality of the kidney, Renal agenesis, Aganglionic megacolon, Chronic kidney dis... |
ORPHA:261222 |
Benign Familial Neonatal-Infantile Seizures |
|
Neonatal seizure, Focal clonic seizure, Bilateral tonic-clonic seizure, Tonic seizure |
ORPHA:140927 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria, Bilateral tonic-clonic seizure |
OMIM:249650 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i... |
OMIM:246200 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Scrub Typhus |
|
Nausea and vomiting, Anterior uveitis, Renal insufficiency, Skin rash, Abdominal pain, Splenomega... |
ORPHA:83317 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Bilateral tonic-clonic seizure, Infantile spasms |
OMIM:618470 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasia/aplasia, Cryptorchidism, Uret... |
ORPHA:261265 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal def... |
OMIM:613870 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hypospadias, Eczema, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:617751 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Patent ductus arteri... |
ORPHA:210122 |
Primary Biliary Cholangitis |
|
Fatigue, Autoimmunity, Increased circulating IgA level, Antinuclear antibody positivity, Osteopor... |
ORPHA:186 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Dysuria, Eczema, Allergic r... |
OMIM:618131 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Bilateral tonic-clonic seizure |
OMIM:618237 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Diarrhea, Neuromuscular dysphagia, I... |
ORPHA:449285 |
Thrombocytopenia, Paris-Trousseau Type |
|
Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Sickle Cell Disease |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, ... |
OMIM:603903 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Cat Eye Syndrome |
|
Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, ... |
OMIM:115470 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... |
OMIM:618108 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Myocardial infarction, Renal salt wastin... |
ORPHA:95409 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Nephrolithiasis, Seizure, Lissencephal... |
OMIM:619827 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, Chronic kidn... |
ORPHA:324525 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating... |
ORPHA:42 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate excretion, Angi... |
OMIM:211900 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Bilateral tonic-clonic seizure |
OMIM:618425 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Seizure, Flexion contracture, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... |
OMIM:616281 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Gastroesophageal reflux, Hepatic fibrosis, ... |
OMIM:619534 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased propor... |
OMIM:606367 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Glossoptosis, Neoplasm, Conjunctivitis, Hypocalcemia, Neutropenia, Chronic otitis medi... |
ORPHA:47 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
H Syndrome |
|
Microcytic anemia, Micropenis, Psoriasiform dermatitis, Abnormality of the kidney, Bronchiectasis... |
ORPHA:168569 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Epistaxis, Abn... |
ORPHA:33226 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Pericarditis, Thromboc... |
ORPHA:47612 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hyper... |
ORPHA:18 |
Aggressive Systemic Mastocytosis |
|
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... |
ORPHA:98850 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Nephropathy, Achalasia, Tracheobronchial... |
ORPHA:1018 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Meningocele, Anencephaly, Renal cyst, Bile duct prolife... |
OMIM:611134 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Nonimmune hydrops fetalis, ... |
OMIM:617021 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Optic disc hypoplasia, Renal agenesis, Hypergonadotropic hypogonadism, Aplastic... |
OMIM:300514 |
Kohlschutter-Tonz Syndrome |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:226750 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Cervical lymphadenopathy, Leukocytosis, Oliguria, Weight loss... |
ORPHA:514 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Anorexia, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopath... |
ORPHA:86893 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Abnormal heart morpholog... |
OMIM:214110 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Hypertriglyceridemia, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Flexion con... |
OMIM:617591 |
Vacterl/Vater Association |
|
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp... |
ORPHA:887 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Patent ductus arteriosus, Renal tubular dysfunction, Hyperbilirubinemia, Ab... |
OMIM:614886 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Abdominal pa... |
ORPHA:1414 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Increase... |
OMIM:618892 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cleft palate, Atopic dermatitis, Retinal neovascularization |
OMIM:619074 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Cardiac amyloidosis, Chronic kidney disease, Gastrointestinal infarctions... |
ORPHA:314652 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Hematuria, Intracranial hemorrhage, Jo... |
ORPHA:98879 |
Tick-Borne Encephalitis |
|
Back pain, Fatigue, Stiff neck, Anorexia, Leukocytosis, Increased circulating IgG level, Increase... |
ORPHA:297 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Absent outer dynein arms, Patent ductus arteriosus, Right aortic arch, Az... |
OMIM:618300 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, ... |
ORPHA:440713 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... |
OMIM:614227 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:160010 |
Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Horseshoe kid... |
OMIM:612562 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Proteinuria, Increased intestinal transit time, Abdom... |
OMIM:619377 |
Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Weight loss, Decreased circulatin... |
ORPHA:33355 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Thrombocytopenia, Enuresis, Renal Fanconi syndrome, Proximal tubu... |
OMIM:619743 |
Meacham Syndrome |
|
Bicuspid aortic valve, Blind vagina, Scimitar anomaly, Atrial septal defect, Accessory spleen, Se... |
OMIM:608978 |
Chops Syndrome |
|
Gastroparesis, Ventricular septal defect, Cryptorchidism, Splenomegaly, Patent ductus arteriosus,... |
OMIM:616368 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Malabsorption,... |
OMIM:209920 |
Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Myelodysplasia, Pancreatic cysts, Abnormality of the ... |
ORPHA:1318 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Renal Agenesis |
|
Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,... |
ORPHA:411709 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Failure to thrive in infancy, Feeding difficulties in infancy, Bila... |
OMIM:618829 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Cryptorchidism, Nephrolithiasis, Nephrocalcinosis, Hypoplastic labia majora, Right ventricular ou... |
OMIM:268310 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Tachycardia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentrat... |
ORPHA:368 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Epistaxis, Reduced platelet alpha granules, Increased mean platelet volu... |
OMIM:314050 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Malabsorption, Diarrhea, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting rena... |
ORPHA:47159 |
Foxg1 Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Status epilepticus, Myoclo... |
ORPHA:561854 |
Slc35A1-Cdg |
|
Prolonged bleeding time, Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pulmonary... |
ORPHA:238459 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Irregular menstruation |
OMIM:615986 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Meningocele, Renal cyst |
ORPHA:2031 |
Carpenter Syndrome 1 |
|
Hydroureter, Ventricular septal defect, External genital hypoplasia, Precocious puberty, Cryptorc... |
OMIM:201000 |
Isolated Osteopoikilosis |
|
Increased bone mineral density, Abnormally ossified vertebrae, Sclerosis of foot bone, Episodic p... |
ORPHA:166119 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Myositis, Antiphospholipid antibody positivity, Rheumatoid fact... |
OMIM:615934 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Epistaxis, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggreg... |
OMIM:153670 |
Williams-Beuren Syndrome |
|
Rectal prolapse, Nephrocalcinosis, Early onset of sexual maturation, Gastroesophageal reflux, Ves... |
OMIM:194050 |
Diencephalic Syndrome |
|
Cachexia, Long penis, Hyperhidrosis, Neoplasm of the nervous system, Decreased body weight |
ORPHA:1672 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Oral-pharyngeal dysphagia, Anorexi... |
ORPHA:100083 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Vasculitis, Uveitis, Nephrot... |
ORPHA:575 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Abdominal mass, Ganglioneuroblastoma, Abdominal pain, Diarr... |
OMIM:256700 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, In... |
ORPHA:3260 |
Familial Infantile Myoclonic Epilepsy |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... |
ORPHA:352582 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:619338 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block, Encopresis, Diarrhea, Patent ductus art... |
ORPHA:589821 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Developmental And Epileptic Encephalopathy 93 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... |
OMIM:618012 |
Mccune-Albright Syndrome |
|
Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert... |
ORPHA:562 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:618090 |
Rift Valley Fever |
|
Back pain, Skin rash, Anorexia, Thrombocytopenia, Ocular pain, Hepatitis, Uveitis, Increased circ... |
ORPHA:319251 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Abdominal pain, Sepsis, Hepatitis, Leukopenia, Arthr... |
ORPHA:319218 |
Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Microcytic anemia, Iron deficiency anemia, Hypoalbuminemia, H... |
ORPHA:398063 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Occipital encephalocele, Malformation of the hepatic ... |
OMIM:607361 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Congenit... |
ORPHA:8 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Polyhydramnios, Asplenia, Neonatal death, Hypospadias, Nonimmune hydrops fetalis, Esophageal atre... |
OMIM:265380 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin ... |
OMIM:619127 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Pelvic mass, Soft tissue neoplasm, Vaginal neoplasm, Reduced C-pe... |
ORPHA:2126 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... |
ORPHA:275761 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Abdominal distention, Diarrhea, Malnutriti... |
ORPHA:35710 |
Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Reduced natural killer cell activity, Reduced ant... |
OMIM:619374 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-rea... |
ORPHA:54251 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Febrile seizure ... |
ORPHA:289266 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
Meckel Syndrome, Type 5 |
|
Anencephaly, Occipital encephalocele, Bile duct proliferation, Renal cyst |
OMIM:611561 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Gastroesophageal reflux, Atrial septal defect, Microgastria, Hepatomeg... |
ORPHA:2538 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Papillary cystadenom... |
ORPHA:892 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, ... |
OMIM:270400 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... |
ORPHA:2070 |
Hereditary Coproporphyria |
|
Hyponatremia, Dark urine, Tachycardia, Small intestinal dysmotility, Abdominal pain, Abnormal cir... |
ORPHA:79273 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Recurr... |
OMIM:619293 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Impaired platelet adhesion, Autoimmune thrombocytopenia, ... |
ORPHA:324636 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... |
OMIM:300653 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Silver-Russell Syndrome 3 |
|
Ambiguous genitalia, Patent ductus arteriosus, Unilateral cryptorchidism, Penoscrotal hypospadias |
OMIM:616489 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Perrault Syndrome 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, High palate, Primary amenorrhea |
OMIM:233400 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Arthralgia, Myalgia, Increased circulatin... |
ORPHA:48104 |
Nephroblastoma |
|
Abdominal pain, Lymphadenopathy, Hematuria, Neoplasm of the liver, Neoplasm of the lung, Neoplasm... |
ORPHA:654 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Familial Colorectal Cancer Type X |
|
Abnormal circulating creatine concentration, Neoplasm of the breast, Stomach cancer, Renal neopla... |
ORPHA:440437 |
Autosomal Agammaglobulinemia |
|
Fatigue, Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin in... |
ORPHA:33110 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... |
OMIM:619381 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Poor appetite, Fee... |
OMIM:606054 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3 mo... |
OMIM:612736 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Bor Syndrome |
|
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesi... |
ORPHA:107 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin... |
ORPHA:30 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Bicornuate uterus, Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:263210 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Abnormal pericardium morpholo... |
ORPHA:67 |
Benign Schwannoma |
|
Pain, Allodynia |
ORPHA:252164 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Erdheim-Chester Disease |
|
Nausea and vomiting, Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Abnormal pericardium... |
ORPHA:35687 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis |
OMIM:217090 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... |
ORPHA:99845 |
Q Fever |
|
Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Infectious... |
ORPHA:781 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Tachycardia, Me... |
ORPHA:35858 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly, Renal cyst, Bile duct proliferation |
OMIM:603194 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Increased body weight, Increased c... |
OMIM:615830 |
Lujo Hemorrhagic Fever |
|
Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Odynophagia, Hyperhid... |
ORPHA:319213 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... |
OMIM:233450 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Increased inflammatory response, Hypertensive crisis, Abnormal h... |
ORPHA:3287 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Infectious encephalitis, Glomerulo... |
ORPHA:117 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Cleft palate, Ant... |
OMIM:619980 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Hepatic fibrosis, Vomiting, Hepatic steatosis, Nausea, Hepatomegaly, Cardiomyopathy... |
ORPHA:264580 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hydronephrosis |
OMIM:615989 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Aortic valve stenosis, Micropenis |
OMIM:243310 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Bilateral tonic-clonic seizure, Osteoporosis, Seizure, Status epilepticus |
ORPHA:529665 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Recurrent skin infections, Bicuspid aortic valve, Decreased circulating IgA... |
OMIM:617744 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Patent ductus arteriosus, High palate,... |
OMIM:251290 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:617836 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:619065 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hypothyroidi... |
OMIM:615846 |
Adult-Onset Nemaline Myopathy |
|
Neuromuscular dysphagia, Paraproteinemia, Myalgia, Flexion contracture |
ORPHA:171442 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Squamous cell carcinoma, Gastrointestinal inflammation, Iron deficiency anemi... |
ORPHA:79408 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Ectopic kidney, Lymphedema, High, narrow palate, Gastrointestinal inflamma... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Myocardial infarction, Ectopic kidney, Lymphedema, High, narrow palate, Gastrointestinal inflamma... |
ORPHA:99228 |
Monosomy X |
|
Myocardial infarction, Ectopic kidney, Lymphedema, High, narrow palate, Gastrointestinal inflamma... |
ORPHA:99226 |
Turner Syndrome |
|
Myocardial infarction, Ectopic kidney, Lymphedema, High, narrow palate, Gastrointestinal inflamma... |
ORPHA:881 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Bilateral cryptorchid... |
OMIM:617402 |
Harrod Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Meningocele, Renal cyst, Intracranial hemorrhage, Hyper... |
OMIM:614424 |
Japanese Encephalitis |
|
Fatigue, Rigors, Neutrophilia, Genu recurvatum, Stiff neck, Anorexia, Abdominal pain, Elbow flexi... |
ORPHA:79139 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Dysphagia |
ORPHA:254361 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Failure to thrive, Tricuspid regurgitation, Patent ductus arteriosus after ... |
OMIM:618460 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Tricuspid stenosis, Patent ductu... |
ORPHA:391641 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Abdominal... |
ORPHA:100025 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Insulin resistance, Hyperlipidemia, Abdominal obesity |
OMIM:615980 |
Porphyria Variegata |
|
Hyponatremia, Neurogenic bladder, Tachycardia, Abdominal pain, Abnormal circulating porphyrin con... |
ORPHA:79473 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:248370 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Female infertility, Situs inversus totalis, Bronchiectasis, Chronic rhinitis, Hypot... |
OMIM:617577 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnor... |
ORPHA:329224 |
Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Nephropathy... |
OMIM:301000 |
Developmental And Epileptic Encephalopathy 106 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure |
OMIM:620028 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic syndrome, Thromb... |
OMIM:611209 |
Meningococcal Meningitis |
|
Shock, Renal insufficiency, Projectile vomiting, Skin rash, Elevated circulating C-reactive prote... |
ORPHA:33475 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, Male hyp... |
ORPHA:91347 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
Zaki Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Renal agenesis, Hydronephrosis |
OMIM:619648 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Test... |
ORPHA:83469 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal... |
OMIM:616589 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis, Recurrent infections |
OMIM:618985 |
Hermansky-Pudlak Syndrome 6 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules, E... |
OMIM:614075 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Renal hypopla... |
OMIM:618454 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Malabsorption... |
ORPHA:912 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:212140 |
Pagod Syndrome |
|
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Sudden cardi... |
ORPHA:991 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dysplasia |
OMIM:614091 |
Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Chordoma, Astrocytoma, Absence of renal corticomedullary differen... |
OMIM:613254 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Primary amenorrhea, Se... |
OMIM:615300 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset |
ORPHA:158 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Tetralogy of Fall... |
ORPHA:96147 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... |
ORPHA:322 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Celiac disease, Dilatation of th... |
ORPHA:2044 |
Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Eczema, Anorexia, Hyperammonemia, Weight loss, Keratoconjunctivitis, Organic... |
ORPHA:79242 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Transient ischemic attack, Abnormality of thrombocytes, Myocardial infar... |
ORPHA:3318 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Hypovolemia, Enuresis no... |
ORPHA:223 |
Avian Influenza |
|
Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive ... |
ORPHA:454836 |
Central Diabetes Insipidus |
|
Hyponatremia, Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive, Nocturia |
ORPHA:178029 |
Immunodeficiency 92 |
|
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memor... |
OMIM:619652 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic... |
OMIM:614602 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, High, narrow palate... |
OMIM:209900 |
Developmental And Epileptic Encephalopathy 103 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General... |
OMIM:619913 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ... |
ORPHA:485350 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Conjunctivitis, Decreased circulating IgG level, Tricuspid regurgitation, Patent duct... |
ORPHA:505248 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Polyhydramnios, Cleft hard palate, Patent ductus arteriosus, Submucous cleft hard palate, Hyperca... |
OMIM:300990 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Tracheobronchial leio... |
OMIM:308940 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Abdominal pain, Thrombocytopenia,... |
ORPHA:520 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Optic disc pallor, Death in infancy, Cardiac arrest, Polyhydramnios, Acanthocy... |
OMIM:618947 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Abnormal internal genitalia, Occipital encephalocele, Anencephaly, Renal cyst... |
OMIM:612284 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pulmonary fibrosis |
OMIM:614743 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Ketonuria, Cardiac arrest, Anorexia, Reye syndrome-like episode... |
ORPHA:20 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Join... |
OMIM:613679 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Febrile seizu... |
OMIM:618917 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Status epilepticus |
OMIM:613970 |
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Keratitis, Absent retinal pigment epithelium, Patent ductus arteriosus |
OMIM:122430 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Mitral valve prolapse, Hypocalcemia, Nephropathy, Hypoth... |
ORPHA:1563 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:619717 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Renal salt wasting, Decreased ... |
ORPHA:85138 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... |
OMIM:608594 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Familial Cold Urticaria |
|
Fatigue, Abdominal pain, Arthritis, Arthralgia, Myalgia, Conjunctivitis, Polydipsia |
ORPHA:47045 |
Secondary Non-Traumatic Avascular Necrosis |
|
Autoimmunity, Limitation of joint mobility, Bone pain, Systemic lupus erythematosus, Addictive al... |
ORPHA:399180 |
Alg12-Cdg |
|
Edema, Polyhydramnios, Gastroesophageal reflux, Hypocholesterolemia, Micropenis, Hypospadias, Par... |
ORPHA:79324 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Atrial septal defect, Ureteral hypoplasia, Bladder trabecu... |
OMIM:614080 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Conjugated hyper... |
OMIM:208500 |
Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome, Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Renal c... |
OMIM:191100 |
Shashi-Pena Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Unilateral rena... |
OMIM:617190 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational age, Feeding dif... |
OMIM:257300 |
Degcags Syndrome |
|
Polyhydramnios, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficienc... |
OMIM:619488 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Congestive h... |
ORPHA:2348 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Disseminated cutaneous warts, Abnormal small intestinal villus morphology, H... |
ORPHA:90362 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Fever |
OMIM:614674 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Polyhydramnios, Anorectal anomaly, Abnormal aortic arch morphology, Hyp... |
ORPHA:567 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Anorexia, Gastrointestinal inflammation, U... |
ORPHA:48435 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Dextrocardia, Malabsorption, Abnormality of the pancreas, Anter... |
ORPHA:2315 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Arrhythmia, Myoglobinuri... |
ORPHA:57 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Retinal detachment, Optic disc pallor, Hypospadias, Unilateral renal agenes... |
ORPHA:464311 |
Patent Ductus Arteriosus 2 |
|
Patent ductus arteriosus |
OMIM:617035 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
D-Glyceric Aciduria |
|
Patent ductus arteriosus, Nonketotic hyperglycinemia, Aminoaciduria, Gastroesophageal reflux, Bra... |
OMIM:220120 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Feeding difficulties in infan... |
ORPHA:3208 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery stenosis, Tetralogy of Fa... |
ORPHA:251071 |
Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Intestinal malrotation, Edema, Polyhydramnios, Hamartoma of tongue, Splenomegaly, P... |
OMIM:269860 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic labia majora, Ab... |
OMIM:244300 |
Lissencephaly Due To Tuba1A Mutation |
|
Agyria, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Perisylvian polymi... |
ORPHA:171680 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, High palate, Abnormality of the uterus, Abnormality of the ... |
ORPHA:84 |
Rasmussen Subacute Encephalitis |
|
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... |
ORPHA:1929 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Gastritis, Atrial fibrillation, N... |
ORPHA:31826 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Patent ductus arteriosus, Horseshoe kidney, Gastroesophageal reflux, Subvalvular aor... |
ORPHA:65286 |
Primary Ciliary Dyskinesia |
|
Male infertility, Intestinal malrotation, Female infertility, Asplenia, Bronchiectasis, Anomalous... |
ORPHA:244 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:255120 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Ectop... |
OMIM:227646 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper... |
ORPHA:713 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Myelodysplasia, Abdomina... |
ORPHA:98849 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia, Polycystic kidney dysplasia |
OMIM:211890 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cardiomegaly, Large for gestational age, Feeding difficulties in infancy, L... |
ORPHA:116 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Patent ductus arteriosus |
OMIM:619519 |
Aminoacylase 1 Deficiency |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:609924 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
Sneddon Syndrome |
|
Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia |
OMIM:182410 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Anorexia, Splenomegaly, Diarrhea, Ab... |
ORPHA:2930 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... |
ORPHA:3044 |
Storage Pool Platelet Disease |
|
Prolonged bleeding time, Decreased mean platelet volume |
OMIM:185050 |
Fumarase Deficiency |
|
Failure to thrive, Increased urine succinate level, Bilateral fetal pyelectasis, Necrotizing ente... |
OMIM:606812 |
Unilateral Focal Polymicrogyria |
|
Urinary incontinence, Simple febrile seizure, Bilateral tonic-clonic seizure with focal onset, Fo... |
ORPHA:268947 |
Lysinuric Protein Intolerance |
|
Leukopenia, Aminoaciduria, Vomiting, Nausea, Hepatomegaly, Anemia, Malnutrition, Stage 5 chronic ... |
OMIM:222700 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Soft tissue sarcoma, Anorexia, Weight loss |
ORPHA:2023 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia |
OMIM:616069 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Feeding dif... |
ORPHA:1454 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Small scrotum, Hypospadias, Edema, Polyhydramnios, Cryptorchidism, Patent duc... |
OMIM:607143 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabsorpt... |
ORPHA:405 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Retinal dystrophy, Cryptorc... |
ORPHA:251066 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Polyhydramnios, Unilateral renal agenesis, Patent ductus arteriosus, Ovarian... |
OMIM:618188 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hyperhomocystinemia, Neutropenia, Gl... |
ORPHA:79282 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Thro... |
OMIM:603552 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arterio... |
ORPHA:163979 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Abnormal cardia... |
OMIM:616737 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Recurrent skin infections, Phimosis, Esophageal stricture, Neoplasm of the ur... |
ORPHA:2908 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis... |
OMIM:618963 |
Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Epistaxis, Sudden cardiac death, Anorexia, Abdominal pain, Med... |
ORPHA:397 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Pulmon... |
ORPHA:2519 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Gout, Hyperuricosuria, Hyperurice... |
OMIM:300661 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly, Abnormality of the ureter, Refractory anemia with ringed si... |
ORPHA:1133 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Lymphopenia, Severe B lymphocytopenia, Portal hy... |
OMIM:620005 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... |
ORPHA:137675 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Cholangitis, Edema, Renal cyst, Macular degeneration, High palate, Hepatic ... |
OMIM:266920 |
Chromosome 18Q Deletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Congestive heart failure, Cry... |
OMIM:601808 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato... |
ORPHA:99931 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, C... |
OMIM:620024 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arterio... |
OMIM:300712 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Polyuria, Polyhydramnios, Hypercalciuria, Increased circulating renin level, Medullary nephrocalc... |
OMIM:300971 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Gastroesophageal reflux, Atrial sept... |
ORPHA:85201 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Mitral stenosis, Renal dysplasia |
OMIM:617260 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Poor appetite,... |
ORPHA:298 |
Koolen-De Vries Syndrome |
|
Atrial septal defect, Recurrent urinary tract infections, Bicuspid aortic valve, Eczema, Ventricu... |
OMIM:610443 |
Floating-Harbor Syndrome |
|
Hypospadias, Celiac disease, Cryptorchidism, Glandular hypospadias, Varicocele, Atopic dermatitis... |
OMIM:136140 |
Joubert Syndrome 2 |
|
Hypoplastic male external genitalia, Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Urinary incontinence, Pineal cyst, Feeding difficulties,... |
OMIM:618885 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Pericarditis, Abnormality of the kidney, Elevated circ... |
ORPHA:767 |
Bresek Syndrome |
|
Renal dysplasia, Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Crypto... |
ORPHA:85284 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding |
ORPHA:1059 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Recurrent viral infections, Recurrent aspiration pneumonia, Psoriasiform dermatitis, ... |
ORPHA:221139 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Optic disc pallor, Hypospadias, Anterior pituitary hypoplasia, Unilateral r... |
ORPHA:464306 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cys... |
OMIM:617100 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Decreased circulating 12-HETE, Impaired platelet aggregation, Abnormal circulating eicosanoid con... |
OMIM:618372 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Diarrhea, Hypovolemia, Abnormal blo... |
ORPHA:31824 |
Visceral Myopathy 1 |
|
Aganglionic megacolon, Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... |
OMIM:300853 |
Pfapa Syndrome |
|
Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Weight loss, Lymp... |
ORPHA:42642 |
D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Fetal ascites, Feeding difficulties in infancy, Splenomegaly, Primary adrenal insuf... |
OMIM:261515 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal aortic arch morphology, Bicor... |
ORPHA:2059 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Hypoperistalsis, Cryptorchidism, Neoplasm of the heart... |
ORPHA:2241 |
Alpers-Huttenlocher Syndrome |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:726 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... |
OMIM:277400 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen... |
ORPHA:79124 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty |
ORPHA:141333 |
Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of the... |
OMIM:203300 |
Orthostatic Hypotension 2 |
|
Anemia, Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic ... |
ORPHA:250989 |
Tuberous Sclerosis Complex |
|
Angiofibromas, Pancreatic endocrine tumor, Renal cyst, Subependymal giant-cell astrocytoma, Pheoc... |
ORPHA:805 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Developmental And Epileptic Encephalopathy 8 |
|
Frontal polymicrogyria, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic s... |
OMIM:300607 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Splenomegaly, Patent ductus art... |
OMIM:608799 |
Netherton Syndrome |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Allergic rhinitis, Increased... |
OMIM:256500 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Hypogonadism, Obesity |
OMIM:615981 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Failure to thrive in infancy, Elevated circulating creatine kinase... |
OMIM:610377 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Status epilepticus, Fe... |
OMIM:620292 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... |
OMIM:616433 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Congestiv... |
ORPHA:79083 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... |
OMIM:619854 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increased circulating IgE level, Re... |
OMIM:602450 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Abnormality of the elbow, Increased circulating IgE level, Abnormality of the wrist |
ORPHA:89843 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Simplified gyral pattern, Myoclonic seizure |
OMIM:619877 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Aortic regurgitation, Renal insufficiency, Renal agenesis, Mitral atresia, Ectopic kidney, Pulmon... |
ORPHA:140952 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ... |
ORPHA:79086 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic labia major... |
ORPHA:2328 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... |
ORPHA:77298 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ... |
OMIM:269700 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Cystathioninuria, Hyperhomocystinemia, High palate, Neutropenia, Atrial sep... |
OMIM:277380 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Ac... |
ORPHA:293173 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... |
OMIM:616222 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity |
OMIM:603233 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Pyloric stenosis, Obesity, Cleft palate, Abnormal hea... |
ORPHA:261197 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Anorexia, Renal salt wasting, Vomiting, Leydig cell neoplas... |
ORPHA:361 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Raynaud phenomenon, Mediastinal lymphadenopathy, Bronchiectasis,... |
ORPHA:79128 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Atrial septal defect, Enlarged ovaries, Hypospadias, Ventricular septal defect, Cr... |
ORPHA:2745 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Hyperimidodipeptiduria, Splenomegaly, Recurrent pneumonia, Crusting erythem... |
OMIM:170100 |
Chromosome 10Q26 Deletion Syndrome |
|
Atrial septal defect, Small scrotum, Cryptorchidism, Patent ductus arteriosus, Vesicoureteral ref... |
OMIM:609625 |
Sarcosinemia |
|
Hypersarcosinuria, Bilateral tonic-clonic seizure |
ORPHA:3129 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Gastroesophageal ... |
OMIM:606232 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Dysphag... |
OMIM:616276 |
Mpi-Cdg |
|
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Cornelia De Lange Syndrome 1 |
|
Ectopic kidney, High, narrow palate, Renal cyst, High palate, Gastroesophageal reflux, Otitis med... |
OMIM:122470 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal steatosis, Cleft pala... |
OMIM:113650 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Hyp... |
ORPHA:94093 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Patent foramen ovale, Patent d... |
ORPHA:280633 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Anorexia, Leukocytosis, Diarrhea, Hyperammonemia, Weight loss, Hypertens... |
ORPHA:134 |
Distal Deletion 10Q |
|
Atrial septal defect, Patent ductus arteriosus, Functional abnormality of the bladder, Spina bifi... |
ORPHA:96148 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Nephropathy, Renal insufficiency, Mitral valve prolapse |
OMIM:247410 |
Leopard Syndrome 1 |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Complete atrioventricular canal defect, M... |
OMIM:151100 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Secre... |
OMIM:619573 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Pulmonary fibrosis |
OMIM:615704 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphad... |
ORPHA:3226 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Premature ovarian insufficiency, Proteinuria, Hypertension, Hypoalbuminemia |
OMIM:610965 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awareness seizure |
OMIM:617493 |
Alkaptonuria |
|
Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Elevated u... |
OMIM:203500 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Hypocalcemia, Failure... |
ORPHA:172 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Hypospadias, Mitral stenosis, Ventricular septal defect, C... |
ORPHA:163956 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, 3-Methylglutaric aciduria, Re... |
OMIM:557000 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation, Splenomegaly, Polyhydramnios, Hepatomegaly |
OMIM:618541 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Neurogenic bladder, Decreased circulating antibod... |
OMIM:604928 |
Monosomy 18Q |
|
Left-to-right shunt, Abnormal retinal morphology, Bilateral cryptorchidism, Congestive heart fail... |
ORPHA:1600 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Giant platelets, Impa... |
OMIM:210250 |
Infantile Cerebellar-Retinal Degeneration |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614559 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... |
ORPHA:48377 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... |
ORPHA:97214 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Esophageal stricture, Squamous cell carcinoma, Gastrointestinal inflammation,... |
ORPHA:79409 |
Acute Intermittent Porphyria |
|
Hyponatremia, Dark urine, Renal insufficiency, Tachycardia, Nausea and vomiting, Urinary incontin... |
ORPHA:79276 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th... |
ORPHA:543 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Small scrotum, Abnormality of the kidney, Epistaxis, Cryptorchidism, Patent ductus arteriosus, Te... |
ORPHA:495818 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Ambiguous ... |
OMIM:616300 |
Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Viral hepatitis, Recurrent bacterial skin infection... |
ORPHA:101330 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Nephrotic syndrome, Ascites |
ORPHA:834 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Lissencephaly, Foca... |
OMIM:618325 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Glutaric aciduria, Myoclonic sei... |
OMIM:600721 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:300835 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte... |
OMIM:270100 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... |
ORPHA:1945 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure |
OMIM:301076 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... |
OMIM:301074 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Foot joint contracture, Bilateral tonic-clonic seizure |
ORPHA:457205 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria, Bilateral tonic-clonic seizure with focal onset, Focal motor sta... |
OMIM:614652 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Thrombocytopenia, Patent ductus... |
OMIM:606003 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Gastrointestinal hemorrhage, Proteinuria, Skin... |
ORPHA:761 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Abnormal aortic valve... |
ORPHA:86818 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Patent ductus arteriosus, Edema, Elevated hepatic transaminase |
OMIM:610498 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Zimmermann-Laband Syndrome 3 |
|
Patent ductus arteriosus, High palate, Bifid uvula |
OMIM:618658 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:300423 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Mixed Connective Tissue Disease |
|
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Nephropathy, Prolonged bleeding time, ... |
ORPHA:809 |
Developmental And Epileptic Encephalopathy 90 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:301058 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Flexion contracture, Hyperinsulinemia, F... |
OMIM:613327 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Pulmonary fibrosis, Abnormal pleura morphology |
ORPHA:210136 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Mitral stenosis, Bicuspid aortic valve, Mitral atresia... |
ORPHA:1596 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... |
OMIM:277900 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Liddle Syndrome 1 |
|
Renal insufficiency, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating ... |
OMIM:177200 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... |
ORPHA:280365 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure |
OMIM:203740 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Ho... |
OMIM:620282 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Mitral valve prolapse, Umbilical hernia, Ureteral triplication, Hydrone... |
OMIM:104350 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Leukocytosis, Increased circulating IgG level, Limited elbow fl... |
ORPHA:206594 |
Enamel-Renal Syndrome |
|
Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co... |
ORPHA:1031 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hyponat... |
ORPHA:199299 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... |
ORPHA:913 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Splenomegaly, Leukocyto... |
OMIM:260920 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... |
ORPHA:2494 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Absence of renal corticomedullary differentiation, Renal hypoplasia, Hypertension, Recurrent otit... |
OMIM:619758 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Anorexia, Poor appetite, Splenomegaly, Lymphoma, Lymphadenopathy, Weight... |
ORPHA:391 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... |
ORPHA:324964 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Hypouricemi... |
OMIM:613179 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody positivity, Sp... |
OMIM:617388 |
Fanconi Anemia, Complementation Group U |
|
Patent ductus arteriosus, Ectopic kidney |
OMIM:617247 |
Gaucher Disease Type 1 |
|
Osteopenia, Pancytopenia, Increased bone mineral density, Anorexia, Abdominal pain, Hypersplenism... |
ORPHA:77259 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Crimean-Congo Hemorrhagic Fever |
|
Stiff neck, Anorexia, Increased circulating IgG level, Leukopenia, Arthralgia, Conjunctivitis, Ch... |
ORPHA:99827 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, External genital hypoplasia, Patent ductus arteriosus, Pulmonic stenos... |
OMIM:249670 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Polyhydramnios, Optic atr... |
ORPHA:79500 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabet... |
ORPHA:96149 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Bilateral tonic-clonic seizure, Urinary incontinence, Seizure, Generalized myoclonic seizure, Foc... |
ORPHA:464282 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Dehydratio... |
ORPHA:90791 |
46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95512 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... |
ORPHA:545 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas... |
OMIM:613662 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95513 |
Digeorge Syndrome |
|
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology... |
OMIM:188400 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
Acute Lung Injury |
|
Shock, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Elevated... |
ORPHA:178320 |
Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Abnormal repetitive mannerisms, Dysphagia, Decreased circulatin... |
DECIPHER:45 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Pyloric stenosis, Hyperammonemia, Aminoaciduria, Hepatic failure |
ORPHA:664 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity |
OMIM:604931 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... |
ORPHA:555905 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hepatic steatosis, Hyper... |
ORPHA:247598 |
Developmental And Epileptic Encephalopathy 61 |
|
Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:617933 |
Refsum Disease |
|
Heart block, Splenomegaly, Renal insufficiency, Cardiomyopathy |
ORPHA:773 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Telangiectasia of the skin, Ventricular septal defect, Spina bifida... |
ORPHA:2092 |
Relapsing Polychondritis |
|
Uveitis, Large vessel vasculitis, Conjunctivitis, Chondritis, Glomerulopathy, Hepatitis, Scleriti... |
ORPHA:728 |
Prolactinoma |
|
Vomiting, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypoten... |
ORPHA:2965 |
Developmental And Epileptic Encephalopathy 47 |
|
Focal-onset seizure, Status epilepticus, Bilateral tonic-clonic seizure, Tonic seizure |
OMIM:617166 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Decrea... |
ORPHA:3464 |
Mosaic Trisomy 16 |
|
Hypospadias, Ventricular septal defect, Large placenta, Patent ductus arteriosus, Horseshoe kidne... |
ORPHA:1708 |
Hermansky-Pudlak Syndrome 11 |
|
Impaired collagen-induced platelet aggregation, Epistaxis, Reduced platelet dense granules |
OMIM:619172 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Lymphoproliferative disor... |
ORPHA:33276 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Di... |
ORPHA:79240 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect, Renal duplication, Ectopic kidney |
OMIM:613309 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Abdominal pain, Episodic hyperhidrosis, Jaundice, Chronic kidn... |
ORPHA:469 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Weight lo... |
OMIM:620045 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Edema of the dorsum of hands, Axial malrotatio... |
OMIM:274000 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Sudden cardiac death, Leuko... |
ORPHA:764 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arte... |
OMIM:610759 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Renal cyst, Horseshoe kidney |
OMIM:250410 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Abnormal circulating histidine concentration, Atrial septal defect, Abnorma... |
ORPHA:51208 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... |
OMIM:266810 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph... |
ORPHA:1606 |
Amish Lethal Microcephaly |
|
Bilateral tonic-clonic seizure, Limitation of joint mobility, Osteoporosis, Organic aciduria, Lis... |
ORPHA:99742 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Pyloric stenosis, Patent d... |
OMIM:619148 |
Spondyloenchondrodysplasia |
|
Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Decreased response to growth... |
ORPHA:1855 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Grfoma |
|
Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ... |
ORPHA:97261 |
Spinocerebellar Ataxia 48 |
|
Bilateral tonic-clonic seizure, Urinary incontinence |
OMIM:618093 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Noonan Syndrome 8 |
|
Eczema, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, Pleural effusion, Mitral regurg... |
OMIM:615355 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Anemi... |
OMIM:246450 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Polyhydramnios, Cryptorchidism, Pancreatic lymphangiectasis, Abnormal renal morphol... |
ORPHA:1655 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:618235 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Death in infancy, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Cryptorchid... |
OMIM:235255 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Thrombocyto... |
ORPHA:290 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated circulating creatine kinase concen... |
OMIM:614921 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:615031 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Asplenia, Ambiguous genitalia, female, Ambi... |
OMIM:249000 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Status epilepticus, Generalized myoclonic seizur... |
OMIM:612164 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... |
ORPHA:824 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... |
OMIM:300869 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
3-Methylglutaconic aciduria, Bilateral tonic-clonic seizure, Ankle flexion contracture |
OMIM:618120 |
Hypoplasminogenemia |
|
Cervicitis, Decreased level of plasminogen, Nephrolithiasis, Periodontitis, Abnormal fallopian tu... |
ORPHA:722 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Hypercalcemia, Small for gestational age, Splenomegaly, Cryptorchid... |
OMIM:618440 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia |
ORPHA:3301 |
2P15P16.1 Microdeletion Syndrome |
|
Decreased testicular size, Aortic regurgitation, Multicystic kidney dysplasia, Mitral regurgitati... |
ORPHA:261349 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Conjunctivitis, Micropenis, Vag... |
OMIM:106260 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormal peritoneum morphology, Orthostatic hy... |
ORPHA:1764 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Conjunctivitis, Renal cyst |
OMIM:615560 |
Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Telangiectasia of the skin, Patent ductus arteriosus, Arterial sten... |
ORPHA:1556 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Fasting hyperinsulinemia, Hypoglycemic seizures, Hyp... |
ORPHA:71212 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Abnormality of temperature regulation, Cryptorchidism, Pyloric stenosis, Ren... |
ORPHA:3138 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Polyhydramnios, Sp... |
OMIM:613610 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Abnormal pulmonary interstitial morphology, Hemosiderin-laden macrophages in bronchoalveolar flui... |
OMIM:616414 |
Analbuminemia |
|
Edema, Patent ductus arteriosus, Hypotension, Hypercholesterolemia, Oligohydramnios |
OMIM:616000 |
Martin-Probst Syndrome |
|
Bifid scrotum, Renal insufficiency, Proteinuria, Cryptorchidism, Telangiectasia, Chordee, Umbilic... |
OMIM:300519 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Renal agenesis, Hypospadias, Aganglionic megacol... |
OMIM:229850 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Decreased urinary sulfate, Bilateral tonic-clonic seizure, Increased urinary su... |
OMIM:272300 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Atrial septal defe... |
ORPHA:857 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Cardiomyopathy, Abnormal cardiac septum mo... |
OMIM:217980 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Autoimmunity, Leukocytosis, Night sweats, Increased circulating IgE level, Hypereosinophilia, Ato... |
ORPHA:2902 |
Pituitary Apoplexy |
|
Fever, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Red... |
ORPHA:95613 |
Lamellar Ichthyosis |
|
Chronic otitis media, Renal insufficiency, Erythroderma |
ORPHA:313 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Diarrhea, Abnormal blood ion concentra... |
ORPHA:173 |
Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Pulmonary fibrosis |
ORPHA:1839 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Spina bifida, Cryptorchidism, Abnormality of the ureter, ... |
ORPHA:261318 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiom... |
OMIM:266500 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Eczema, Abnormal aortic morphology, Umbilical hernia, Nephroblastoma |
ORPHA:1001 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos... |
ORPHA:66661 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300558 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele, Aortic aneurysm |
ORPHA:261102 |
O'Sullivan-Mcleod Syndrome |
|
Pain, Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... |
ORPHA:2041 |
Vipoma |
|
Secretory diarrhea, Dehydration, Benign gastrointestinal tract tumors, Hepatomegaly, Follicular t... |
ORPHA:97282 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten... |
OMIM:618652 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure, Infantile spasms, Flexion contracture, Hyperextensibility at wris... |
ORPHA:544503 |
Antisynthetase Syndrome |
|
Recurrent respiratory infections, Xerostomia, Abnormal pulmonary interstitial morphology, Pulmona... |
ORPHA:81 |
Somatostatinoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97283 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Abnormal renal collecting system morpho... |
ORPHA:17 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Typical absence seizure, Focal tonic seizure... |
ORPHA:168491 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Hot flashes, Hypersexuality, Sweet crav... |
ORPHA:33543 |
Cln3 Disease |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Seizure, Urinary bladder ... |
ORPHA:228346 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... |
ORPHA:2973 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Anorexia, Malabsorption, Abdominal p... |
ORPHA:79430 |
Coffin-Siris Syndrome |
|
Atrial septal defect, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arter... |
ORPHA:1465 |
Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Ectopic kidney, Cryptorchidism, Patent ductus arteriosus, Shawl scrotu... |
ORPHA:1519 |
Gm1 Gangliosidosis |
|
Abnormal retinal vascular morphology, Congestive heart failure, Splenomegaly, Patent ductus arter... |
ORPHA:354 |
Wolman Disease |
|
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Abdominal dist... |
ORPHA:75233 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... |
OMIM:610978 |
49,Xyyyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:99330 |
Gamma-Heavy Chain Disease |
|
Fatigue, Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, ... |
ORPHA:100026 |
Timothy Syndrome |
|
Prolonged QT interval, Pneumonia, Hypothermia, Cardiomegaly, Patent ductus arteriosus, Ventricula... |
OMIM:601005 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Helix Syndrome |
|
Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia... |
OMIM:617671 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... |
ORPHA:105 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Nausea and vomiting, Brain neoplasm, Elevated carcinoma antigen 125 lev... |
ORPHA:370348 |
Ppoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97278 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Lacticaciduria, Abnormal heart morphology, Vomiting, Palpitations... |
OMIM:618250 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Glucagonoma |
|
Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Adreno... |
ORPHA:97280 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease, Patent foramen ovale |
OMIM:618821 |
Atelosteogenesis Type I |
|
Malrotation of colon, Abnormal pancreatic duct morphology, Multiple renal cysts, Cleft palate |
ORPHA:1190 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... |
OMIM:618170 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Feeding difficulties in inf... |
OMIM:239200 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Retinal dystrophy, Peripheral retinal atrophy, Patent ductus arteriosus, Absent foveal reflex, Co... |
OMIM:615147 |
Aspergillosis |
|
Pneumonia, Hypersensitivity pneumonitis, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Pl... |
ORPHA:1163 |
Mercury Poisoning |
|
Tachycardia, Hypertension, Interstitial pneumonitis, Hypokalemia, Hypotension, Acute kidney injur... |
ORPHA:330021 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Goiter, Abnormal neck blood vessel morphology, Abnormal ly... |
ORPHA:97290 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... |
OMIM:618733 |
Severe Acute Respiratory Syndrome |
|
Acute infectious pneumonia, Acute kidney injury |
ORPHA:140896 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Aortic regurgitation, Multicystic kidney dysplasia, Vaginal neoplasm, Myelo... |
ORPHA:1052 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Bilateral tonic-clonic seizure |
ORPHA:53583 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... |
ORPHA:90795 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated carcinoembryonic antigen leve... |
ORPHA:100085 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hypercholest... |
OMIM:615812 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... |
OMIM:615688 |
7Q11.23 Microduplication Syndrome |
|
Atrial septal defect, Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Cryptorc... |
ORPHA:96121 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Seizure, Micropenis, Cranial hyperostosis, Bilateral tonic-clonic seizure |
ORPHA:457240 |
Neonatal Lupus Erythematosus |
|
Parakeratosis, Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Ne... |
ORPHA:398124 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Cranioectodermal Dysplasia 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:614099 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Atrial septal defect, Patent ductus arteriosus, Abnormality of the kidney |
ORPHA:93274 |
Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Acne, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Increased serum... |
ORPHA:247768 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Gas... |
OMIM:616975 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Gastrointestinal hemorrhage, Cachexia, Malabs... |
ORPHA:3452 |
Schuurs-Hoeijmakers Syndrome |
|
Patent ductus arteriosus, Cryptorchidism, Volvulus, Constipation |
OMIM:615009 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
Penile Agenesis |
|
Atrial septal defect, Urethral atresia, male, Hydroureter, Ventricular septal defect, Cryptorchid... |
ORPHA:49 |
Lymphatic Filariasis |
|
Fever, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Predominantly lower limb lymph... |
ORPHA:2035 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Scedosporiosis |
|
Pneumonia, Bronchitis, Pleural empyema, Pulmonary fibrosis, Pleuritis |
ORPHA:449280 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Hepatomegaly, Patent ductus arteriosus, Diarrhea, Weight loss, Atrial septal... |
ORPHA:1842 |
Erythrokeratodermia Variabilis |
|
Skin rash, Patchy palmoplantar hyperkeratosis, Weight loss, Hyperkeratosis, Neoplasm of the skin,... |
ORPHA:317 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:613313 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
Thanatophoric Dysplasia |
|
Atrial septal defect, Patent ductus arteriosus, Abnormality of the kidney |
ORPHA:2655 |
Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating g... |
ORPHA:64739 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormality of thyroid physiology, Patent ductus arteriosus, Cleft palate, Hydronephrosis, Bifid ... |
OMIM:300968 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Abnormality of the ureter, Multiple g... |
OMIM:175200 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Tricuspid regurgitation, Mitral regurgitation, Hepatic fibrosis, Aplasia... |
OMIM:619879 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin, Malabsorption, Crypt... |
ORPHA:99812 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, In... |
ORPHA:465508 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Cryptorchidism, Pate... |
OMIM:616894 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Renal cyst, Pol... |
OMIM:102500 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrh... |
ORPHA:56425 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ... |
ORPHA:2470 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Elevated circulating creatine kinase concentration, Protruding ... |
OMIM:608779 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity |
OMIM:615985 |
Schinzel-Giedion Syndrome |
|
Renal cyst, Anteriorly placed anus, High palate, Hepatoblastoma, Myeloid leukemia, Micropenis, St... |
ORPHA:798 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormality of temperature regulation, Heat intolerance |
ORPHA:2926 |
Craniofaciofrontodigital Syndrome |
|
Edema, Polyhydramnios, Cardiomegaly, Abnormal cerebral vascular morphology, Gastrointestinal dysm... |
ORPHA:363705 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Elevated circulatin... |
ORPHA:97287 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinur... |
OMIM:300908 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Increas... |
ORPHA:905 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Pulmonary fibrosis, Recurr... |
OMIM:618986 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Pustule, Glucocortocoid-insensitive pr... |
ORPHA:171876 |
Joubert Syndrome 9 |
|
Encephalocele, Hepatic fibrosis, Stage 5 chronic kidney disease |
OMIM:612285 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development |
OMIM:610628 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B... |
OMIM:226990 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure |
OMIM:615716 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia, Aortic aneurysm |
ORPHA:35125 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula... |
ORPHA:70578 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Abdominal pain, Weight loss, Hematuria, Syncop... |
ORPHA:71273 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Lympho... |
OMIM:212750 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Absent pulmonar... |
OMIM:600460 |
Niemann-Pick Disease, Type B |
|
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
OMIM:607616 |
Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Abnormal circulating creatine kinase concentratio... |
OMIM:619967 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Neuroendocrine Tumor Of Stomach |
|
Abnormal pulmonary valve cusp morphology, Anorexia, Poor appetite, Lack of bowel sounds, Bloody d... |
ORPHA:100075 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericardial effusion, ... |
ORPHA:79328 |
Chromosome 9P Deletion Syndrome |
|
Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ve... |
OMIM:158170 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Joubert Syndrome 1 |
|
Nephropathy, Hepatic fibrosis, Renal cyst, Occipital myelomeningocele |
OMIM:213300 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Polymicrogyria, Hydron... |
ORPHA:488613 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia, Abnormality of the kidney, Cholangitis, Retroperitoneal fibros... |
ORPHA:449432 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Portal hyp... |
OMIM:251880 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency, Abnormal cerebral vascular morphology |
ORPHA:2165 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epistaxis, Subarachnoid ... |
OMIM:185070 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Decreased circu... |
OMIM:605309 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... |
OMIM:611881 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... |
ORPHA:1333 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Hypertrophic cardiomyopa... |
OMIM:220110 |
Spastic Ataxia 5, Autosomal Recessive |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614487 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Hypoplastic left heart, Polycystic kidney dysplasia |
OMIM:619562 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpholo... |
ORPHA:319487 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Renpenning Syndrome |
|
Hypospadias, Cachexia, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia |
ORPHA:3242 |
Lateral Meningocele Syndrome |
|
Neurogenic bladder, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent duct... |
OMIM:130720 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Renal hypoplasia, Hypoplasia of the ovary, Azotemia, Micropenis, Decreased testicular size |
OMIM:619321 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... |
OMIM:615607 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Localized osteoporosis, Bilateral tonic-clonic seizure |
ORPHA:199354 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Rec... |
ORPHA:2314 |
Blau Syndrome |
|
Xerostomia, Large vessel vasculitis, Abnormality of the liver, Abnormal optic nerve morphology, P... |
ORPHA:90340 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Polyhydramnio... |
OMIM:214800 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Hematuria, Nephrotic syndrome |
OMIM:161200 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... |
ORPHA:2234 |
Lynch Syndrome |
|
Intestinal polyposis, Pancreatic adenocarcinoma, Abdominal pain, Neoplasm of the rectum, Basal ce... |
ORPHA:144 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis... |
OMIM:613457 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Feeding difficulties in infancy, T... |
OMIM:251110 |
Marden-Walker Syndrome |
|
Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Hypospadias, Ab... |
ORPHA:2461 |
Dk1-Cdg |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms |
ORPHA:91131 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha... |
ORPHA:399 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... |
OMIM:617600 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Bilateral tonic-clonic seizure |
OMIM:540000 |
Sotos Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Muscular ventricular septal... |
OMIM:117550 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, High palate, Pulmonic stenosis, Recur... |
ORPHA:3304 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Myoclonus, Micropenis,... |
ORPHA:364028 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Transient neutropenia, Ventricular septal defect, Large for gestational age, R... |
OMIM:617107 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Umbilical hernia, Patent ductus arteriosus |
ORPHA:1516 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Patent ductus arteriosus, Chronic constipation, Gastroesophageal reflux, Vomiting, Vesicoureteral... |
OMIM:618076 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ... |
ORPHA:90037 |
Recombinant 8 Syndrome |
|
Atrial septal defect, Small scrotum, Ventricular septal defect, Abnormality of the kidney, Crypto... |
ORPHA:96167 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Long penis, Nephrolit... |
OMIM:135500 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Failure to thrive in infancy, ... |
ORPHA:388 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Bundle branch block, High, narrow palate, Neoplasm, He... |
ORPHA:373 |
Encephalitis Lethargica |
|
Stiff neck, Urinary incontinence, Bowel incontinence, Recurrent viral infections, Autoimmunity, L... |
ORPHA:83600 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Monosomy 22Q13.3 |
|
Recurrent skin infections, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephritis, Renal... |
ORPHA:48652 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... |
OMIM:619518 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevate... |
OMIM:620300 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Sp... |
ORPHA:90324 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Patent ductus arteriosus after birth at term, Secondary amenorrhea, Recurr... |
ORPHA:529962 |
Tetrasomy 9P |
|
Myositis, Biliary atresia, Micropenis, Patent foramen ovale, Absent gallbladder, Juxtaductal coar... |
ORPHA:3310 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Cholestasis, Hepatosplenomegaly, Feeding difficulties, Decreased se... |
ORPHA:541423 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Pneumonia, Shivering, Leukocytosis, Sepsis, Acute infectious pneumonia, Leukopenia,... |
ORPHA:36238 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Atrial septal defect, Hepatosplenomegaly, Patent ductus arteriosus, Oligosacchariduria |
ORPHA:397709 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Cerebral hemo... |
ORPHA:244242 |
New-Onset Refractory Status Epilepticus |
|
Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with focal onset, Focal... |
ORPHA:363558 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria |
ORPHA:1933 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... |
ORPHA:793 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormal cardiac septum morphology, Patent ductus arteriosus, Abnormality of the urinary system, ... |
ORPHA:2412 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Gastroesophageal reflux, Otitis media, Atrial septal defect, Vesicouretera... |
ORPHA:353281 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Dyskeratosis Congenita, Digenic |
|
Recurrent infections, Decreased circulating total IgM, Dysphagia, Decreased circulating IgG level... |
OMIM:620040 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Raynaud phenomenon, C... |
ORPHA:536 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Ectopic ki... |
OMIM:227650 |
Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia, Autoimmunity |
OMIM:222100 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundic... |
OMIM:214900 |
Braddock Syndrome |
|
Pulmonary fibrosis |
ORPHA:52047 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypertension, Abnormal platelet function, Low urinary cyclic AMP response ... |
ORPHA:79443 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Pericardial effusion, Mediasti... |
OMIM:181000 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... |
OMIM:175500 |
Charge Syndrome |
|
Bifid scrotum, Polyhydramnios, Gastroesophageal reflux, Chorioretinal coloboma, Vesicoureteral re... |
ORPHA:138 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Eczema, Intestinal malrotation, Feeding ... |
ORPHA:2308 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating total IgG, Joint hypermobility, Spleno... |
OMIM:300972 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Ectopic ki... |
OMIM:600901 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Intestinal malrotation, Paten... |
ORPHA:2255 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Ventri... |
OMIM:263520 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus |
ORPHA:313772 |
Bilateral Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, 4-layered lissencephaly, Infantile spa... |
ORPHA:268940 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Vomiting, Prominent U wave, P... |
ORPHA:466677 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... |
OMIM:251100 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hamartoma of tongue, Pancreatic c... |
ORPHA:2750 |
Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired myocardi... |
ORPHA:79102 |
Carpenter Syndrome |
|
External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Patent duct... |
ORPHA:65759 |
7Q31 Microdeletion Syndrome |
|
Patent ductus arteriosus after birth at term, Enuresis nocturna, Galactosuria, Gastroesophageal r... |
ORPHA:251061 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Absent gallbladder, Hypoplastic tricuspid valve, Double outlet left ventric... |
OMIM:600001 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Anorectal anomaly, Hyperhidrosis, Neoplasm, Periodontitis, Hepatomega... |
ORPHA:1775 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Bilateral tonic-clonic seizure, Atonic seizure, Tonic seizure, Focal hemiclon... |
OMIM:616973 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi... |
OMIM:194380 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertriglyceridemia, Type II diabetes mellitus, Obesity |
OMIM:618620 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Isolated Biliary Atresia |
|
Hepatomegaly, Small for gestational age, Dark yellow urine, Conjugated hyperbilirubinemia, Atreti... |
ORPHA:30391 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Patent ductus arteriosus, Atrial septal d... |
OMIM:257920 |
3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, 3-Methylglutaconic ... |
OMIM:619835 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea... |
ORPHA:3337 |
Tempi Syndrome |
|
Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG lev... |
ORPHA:284227 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Uterine prolapse, Hypothermia, Abnormality of the endocrine system, Precocious... |
ORPHA:438213 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Nephrolithiasis, Seizure, Hyperaldosteronism, Focal impaired awar... |
ORPHA:369929 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Splenomegaly, Renal cyst, Dysphagia, Hyperechogenic kidne... |
OMIM:615636 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft palate, Polycystic kidney dysplasia, Anal atre... |
OMIM:613091 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V... |
OMIM:236700 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Urinary incontinence, Typical absence seizure, Limb myoclonus, Fe... |
ORPHA:64280 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Epistaxis, Increased proportion of CD25+ mast cells, Abnormality of neutrop... |
ORPHA:167 |
Pleural Mesothelioma |
|
Hepatomegaly, Abnormal cardiovascular system physiology, Weight loss, Lymphadenopathy, Dysphagia |
ORPHA:50251 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Lymphoproliferative disorder, S... |
ORPHA:90033 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Coronary artery dissection, Stage 5 ... |
ORPHA:2614 |
Desmosterolosis |
|
Renal agenesis, Intestinal malrotation, Renal hypoplasia/aplasia, Splenomegaly, Patent ductus art... |
ORPHA:35107 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Celiac disease, Patent ductus arteriosus, Coarctation of aorta, Constipation, Pulmonic stenosis, ... |
ORPHA:284169 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Anterior pituitary hypoplasia, Decreased heart rate variabili... |
OMIM:619004 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Recurrent viral infections, Abdominal pain, Recurrent pne... |
ORPHA:420741 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Asymmetri... |
OMIM:252920 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... |
ORPHA:64743 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
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Atrial flutter, Overriding aorta, Lymphedema, Patent ductus arteriosus, Hydrops fetalis, Vascular... |
OMIM:601927 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Increased urinary taurine, Generalized... |
OMIM:615501 |
Acromegaly |
|
Dysmenorrhea, Osteoarthritis, Wide penis, Hyperhidrosis, Pituitary prolactin cell adenoma, Hypogo... |
ORPHA:963 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 leve... |
ORPHA:449427 |
Distal 22Q11.2 Microduplication Syndrome |
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Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Unilateral renal agenesis,... |
ORPHA:261337 |
Smith-Lemli-Opitz Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ventricular... |
ORPHA:818 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... |
OMIM:612714 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the uvula, Hepatomegaly, Patent ductus arteriosus, Optic atrophy |
ORPHA:1597 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Decreased circulating cortisol level, Dextrocardia, Unilateral renal a... |
OMIM:620305 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiac arrest, Cardiomegaly, N... |
OMIM:617713 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
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Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal impaired awareness seizur... |
OMIM:619983 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Bull's eye maculopathy, Supernumerary nipple, Decreased response to growth hormone stimulation te... |
OMIM:213980 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
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Seizure, Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:619911 |
Lymphoproliferative Syndrome 2 |
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Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... |
OMIM:615122 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... |
ORPHA:564 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Ungual fibroma, Retinal hama... |
ORPHA:538 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Kerat... |
ORPHA:495875 |
Knobloch Syndrome |
|
Retinal detachment, Pyloric stenosis, Patent ductus arteriosus, Abnormal vitreous humor morpholog... |
ORPHA:1571 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Portal hypertension, Microcolon, Megacystis, Hepatic failure... |
OMIM:619431 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:79264 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Honeycomb lung, Chroni... |
ORPHA:79127 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Patent ductus arteriosus, Reduced lef... |
OMIM:616501 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Char Syndrome |
|
Patent ductus arteriosus |
OMIM:169100 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Arterial stenosis |
ORPHA:79094 |
Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Increased circulating IgE level, Recurrent i... |
ORPHA:634 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... |
ORPHA:98897 |
Congenital Tracheal Stenosis |
|
Abnormality of the kidney, Fetal ascites, Polyhydramnios, Abnormal stomach morphology, Ascending ... |
ORPHA:141127 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, External genital hypoplas... |
ORPHA:97360 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Nephropathy, Renal insufficiency |
ORPHA:2318 |
Hermansky-Pudlak Syndrome 4 |
|
Pulmonary fibrosis |
OMIM:614073 |
Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Pyloric stenosis, Patent ductus arteriosus, Gastroesophageal reflux, Aortic... |
ORPHA:98892 |
Houge-Janssens Syndrome 3 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seiz... |
OMIM:618354 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Patent ductus arteriosus, Shawl scrotum,... |
ORPHA:2282 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Bilateral tonic-clonic seizure, Recurrent fractures |
ORPHA:453510 |
Immunodeficiency 13 |
|
Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pneumonia, Bron... |
OMIM:615518 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
ORPHA:226313 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Nephropathy, Renal insufficiency |
ORPHA:220497 |
Neuroendocrine Tumor Of The Rectum |
|
Abnormal pulmonary valve cusp morphology, Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypic... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Abnormal pulmonary valve cusp morphology, Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypic... |
ORPHA:100082 |
Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Patent ductus arteriosus, Anencephaly, Transposition of the great ar... |
OMIM:313850 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... |
ORPHA:314769 |
Humeroradial Synostosis |
|
Renal insufficiency |
OMIM:236400 |
Chromosome 5Q12 Deletion Syndrome |
|
Patent ductus arteriosus, Macroglossia, Increased nuchal translucency, Hypotension |
OMIM:615668 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic diarrhea, Weight loss, Acholic s... |
ORPHA:65682 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... |
OMIM:176270 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Mitral stenosis, Hypospadias, Intestinal malrotation, Splenomegaly, Patent ductus a... |
ORPHA:955 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
Epilepsy-Telangiectasia Syndrome |
|
Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Cockayne Syndrome |
|
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... |
ORPHA:191 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur... |
OMIM:617718 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia, Histiocytosis |
ORPHA:139436 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Malabsorption, Pulmonary embolism, Hypothyroidism, Diarrhea... |
OMIM:226300 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Micropenis, Bifid uvu... |
ORPHA:672 |
Calciphylaxis |
|
Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hyperparathyroidism |
ORPHA:280062 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Emphysema, Pulmonary fibrosis |
OMIM:620365 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Gastroesophageal reflux, Pulmonic stenosis, Atri... |
OMIM:619149 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ... |
ORPHA:100080 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Hypospadias, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, O... |
OMIM:206900 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus, Abnormal platelet morphology,... |
ORPHA:2978 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pulmonary fibrosis |
OMIM:619767 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Bilateral tonic-clonic seizure, Focal myoclonic seizure, Flexion contracture, Hyperextensibility ... |
ORPHA:481152 |
Pneumocystosis |
|
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul... |
ORPHA:723 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus, Horseshoe kidney, Renal cyst... |
OMIM:117650 |
Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... |
ORPHA:99725 |
African Trypanosomiasis |
|
Urinary incontinence, Vomiting, Conjunctivitis, Iritis, Nausea, Hepatomegaly, Abnormal EKG, Hepat... |
ORPHA:3385 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Death in childhood, Hy... |
OMIM:612938 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma |
OMIM:614328 |
Autosomal Recessive Robinow Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defec... |
ORPHA:1507 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... |
ORPHA:96184 |
Congenital Analbuminemia |
|
Fatigue, Hyperlipidemia, Increased circulating antibody level, Hypercholesterolemia, Recurrent lo... |
ORPHA:86816 |
Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Lymphadenopathy, Weight loss, Macroglossia, Ne... |
ORPHA:2221 |
Warburg Micro Syndrome 3 |
|
Bilateral tonic-clonic seizure, Flexion contracture, Myoclonic seizure, Micropenis, Polymicrogyria |
OMIM:614222 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater... |
ORPHA:98795 |
Vater/Vacterl Association |
|
Renal dysplasia, Occipital encephalocele, Hypospadias, Renal agenesis, Spina bifida, Ectopic kidn... |
OMIM:192350 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Hypocalcemia, Cachexia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Ventricular septal defect,... |
OMIM:619522 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Renal cyst, Hepatoblastoma, Exaggerated median tongue furrow, Hepatomegaly, Hypos... |
OMIM:312870 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... |
ORPHA:2785 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf... |
ORPHA:125 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car... |
OMIM:208000 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Lymphedema, Abnormality of the endocrine system, Increase... |
ORPHA:487796 |
Orofaciodigital Syndrome I |
|
Proteinuria, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Abnormal heart ... |
OMIM:311200 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
Pentasomy X |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology |
ORPHA:11 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Renal insufficiency, High palate, Reduced pancreatic beta cells |
OMIM:226980 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Rectal prolapse, Hamartomatous polyposis, Intestinal bleeding, Hypoalbuminem... |
ORPHA:79076 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Congestive heart failure, Pat... |
ORPHA:444077 |
Hennekam Syndrome |
|
Benign neoplasm of the central nervous system, Lymphopenia, Ectopic kidney, Malabsorption, Spleno... |
ORPHA:2136 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Generalized bone demineralization, Decreased circulating IgA level |
OMIM:215250 |
Lafora Disease |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
ORPHA:501 |
Fatal Familial Insomnia |
|
Hyperhidrosis, Weight loss, Constipation, Urinary retention, Dysphagia |
OMIM:600072 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Chronic kidney disease, Hypertension, Gastric ulcer, Anemia |
OMIM:208060 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Bilateral tonic-clonic seizure |
OMIM:618832 |
Fanconi Anemia, Complementation Group R |
|
Anal atresia, Pelvic kidney, Bone marrow hypocellularity, Anemia |
OMIM:617244 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hepatomegaly, Death in infancy, Bilateral fetal pyelectasis, Polyhy... |
OMIM:300868 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Ventricula... |
OMIM:227645 |
Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Cryptorchidism, Horseshoe kidney, Squamous cell carcinoma, Pelvic kidney, Anemia |
OMIM:613951 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Polyuria, Unilateral renal agenesis, Patent ductus arte... |
OMIM:617140 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Hydrometrocolpos, Aplasia o... |
OMIM:617088 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, High-output congestive heart failure, Hyperkalemia, Vent... |
ORPHA:423 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Intestinal pseudo-obstruction, Abnormal heart valve morphology, Heparan sulfate exc... |
OMIM:309900 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Hypovolemia, Weight loss, R... |
ORPHA:99885 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Feeding difficult... |
ORPHA:308552 |
Liposarcoma |
|
Nausea and vomiting, Abnormality of the kidney, Abdominal pain, Weight loss, Sarcoma |
ORPHA:69078 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Angina pectoris, Elevated circulating creatin... |
ORPHA:565612 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Trisomy 10P |
|
Absent gallbladder, Small for gestational age, Abnormality of the kidney, Dysphagia, Abnormal hea... |
ORPHA:171929 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce... |
ORPHA:3202 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Flex... |
ORPHA:3409 |
Developmental And Epileptic Encephalopathy 50 |
|
Failure to thrive, Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia,... |
OMIM:616457 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Autoimmune antibody positivity, Asthenia, Abdominal pain |
ORPHA:90003 |
Au-Kline Syndrome |
|
Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Lipomyelomeningocele, Hyp... |
OMIM:616580 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Hepatic cysts |
OMIM:613819 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Polyhydramnios, Dysphagia |
OMIM:616867 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Ventricular septal defect, Patent ductus arteriosus, Gastroesophage... |
OMIM:300373 |
Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Elevated urinary N-acetylaspartic acid level |
OMIM:271900 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Glioma, B-cell lymphoma, Rhabdomyos... |
ORPHA:647 |
Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Xerostomia, Renal hypoplasia, Keratoconjunctivitis, Hyd... |
ORPHA:2363 |
Developmental And Epileptic Encephalopathy 100 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Bilateral c... |
OMIM:619777 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Intestinal fistula, Hypospadias, Polyhydramni... |
ORPHA:709 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... |
OMIM:614231 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Ritscher-Schinzel Syndrome 4 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Limited knee extension, Micropenis, Joint hy... |
OMIM:619435 |
X-Linked Intellectual Disability, Hedera Type |
|
Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:93952 |
Biotinidase Deficiency |
|
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties i... |
OMIM:253260 |
Sandhoff Disease, Infantile Form |
|
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure |
ORPHA:309155 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Atrial septal defect, Multicystic kidney dysplasia, Renal insufficiency, Hypospadi... |
OMIM:107480 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Chronic Mucocutaneous Candidiasis |
|
Dyspareunia, Recurrent urinary tract infections, Abnormality of temperature regulation, Skin rash... |
ORPHA:1334 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Precocious puberty, Cryp... |
OMIM:616682 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Branchial cyst, Ventricular septal defect, Abnormality of the kidney... |
ORPHA:508488 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Renal hypoplasia, ... |
OMIM:210710 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Hyperactivity, Autoimmunity, Craniosynostosis, Keratitis, Splenomegaly, Anti-thyroi... |
ORPHA:525731 |
Leptospirosis |
|
First degree atrioventricular block, Anorexia, Uveitis, Hepatomegaly, Abdominal pain, Cellular ur... |
ORPHA:509 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflamm... |
ORPHA:95455 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Myocardial... |
ORPHA:99889 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Cockayne Syndrome A |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Irregular menstruat... |
OMIM:216400 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level, Patent ductus arteriosus, Malabsorption |
ORPHA:99811 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pulmonary interstitia... |
ORPHA:217563 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:619356 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Im... |
OMIM:608233 |
Brain-Lung-Thyroid Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Abnormal eating behavior, Recurrent pneumonia, A... |
ORPHA:209905 |
Typhoid |
|
Gastrointestinal hemorrhage, Diarrhea, Constipation, Abnormal pulmonary interstitial morphology |
ORPHA:99745 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... |
ORPHA:500095 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Congenital Erythropoietic Porphyria |
|
Anisocytosis, Increased stool urobilinogen concentration, Abnormal circulating porphyrin concentr... |
ORPHA:79277 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Spina bifida, Myelomeningocele, Meningoc... |
ORPHA:1393 |
Bone Marrow Failure Syndrome 5 |
|
Pulmonary fibrosis |
OMIM:618165 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... |
ORPHA:31205 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Elevated circulating creatine kinase conce... |
OMIM:615287 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Dilatation of the renal pelvis, Bronchiectasis, Inflammation of the large intestine, Rectovaginal... |
OMIM:619708 |
Atypical Werner Syndrome |
|
Failure to thrive, Diabetes mellitus, Lipoatrophy, Hypertriglyceridemia, Abnormal circulating lep... |
ORPHA:79474 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... |
OMIM:616860 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity |
ORPHA:79445 |
Femoral-Facial Syndrome |
|
Renal agenesis, Truncus arteriosus, Abnormal renal collecting system morphology, Ventricular sept... |
OMIM:134780 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent ductus arteriosus, Telangiectasia, Pigmentary retinopathy, Chronic constipation, High pala... |
OMIM:612582 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Abnormal heart valve morphology, Splenomegaly, Macroglossia, Mucopolysacchariduria, Ch... |
ORPHA:583 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Chronic diarrhea, Macroglos... |
OMIM:618268 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Hepatomegaly, Mitral valve calcification, Right ventricular failure, Abn... |
ORPHA:60025 |
Serotonin Syndrome |
|
Tachycardia, Diarrhea, Hypertension, Hypotension, Acute kidney injury, Nausea |
ORPHA:43116 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Skin rash, Increased circulating ... |
OMIM:603553 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Myelo... |
ORPHA:729 |
Behavioral Variant Of Frontotemporal Dementia |
|
Bilateral tonic-clonic seizure |
ORPHA:275864 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Hyperglutamatemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Hy... |
OMIM:620358 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Retinal detachment, Optic disc pallor, Renal duplication, Pyloric s... |
OMIM:267750 |
Reactive Arthritis |
|
Aortic regurgitation, Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abdominal ... |
ORPHA:29207 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Recurrent urinary tract infections, Septo-optic dysplasia, Hypospadias, Epistaxis, Anterior pitui... |
OMIM:619841 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Intestinal malrotation, Bilateral cryptorchidism, Patent duct... |
OMIM:616268 |
Proteus Syndrome |
|
Pulmonary embolism, Neoplasm of the thymus, Renal cyst, Neoplasm of the central nervous system, N... |
ORPHA:744 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure |
OMIM:616083 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Aortic valve stenosis, Chorioretinal atrophy, Vascular dilatation |
OMIM:220220 |
Noonan Syndrome |
|
Arrhythmia, Abnormal platelet function |
ORPHA:648 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Hypospadias, Bicuspid aortic valve, Patent ductus arteriosus, Premature ost... |
OMIM:611962 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, High, narrow ... |
OMIM:619472 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Supernumerary nipple, Lymphedema, Patent ductus arteriosus, Chorioreti... |
OMIM:600268 |
Silver-Russell Syndrome |
|
Hypospadias, Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Hyperhidrosis, Feed... |
ORPHA:813 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Anencephaly, Polycystic kidney dysplasia, Atrial septal defect, Occipital meningocele, Micropenis |
OMIM:616546 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Patent ductus arteriosus |
ORPHA:1952 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Gastroparesis, Abnormality of the end... |
ORPHA:79329 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... |
OMIM:612462 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... |
OMIM:618213 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Nocturnal seizures, Bilateral tonic-clonic seizure, Urinary incontinence, Focal hyperkinetic seizure |
ORPHA:98784 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Myoclonus, Nocturnal seizures |
OMIM:619725 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis, Pneumonia |
ORPHA:1303 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abnormal left ventricular ... |
ORPHA:91387 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary em... |
ORPHA:70591 |
Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Abnormal eosinophil morphology, Bronchiectasis, Weight loss |
ORPHA:1164 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Patent ductus arteriosus, Tracheoesophageal f... |
ORPHA:861 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Edema, Elevated cir... |
ORPHA:2796 |
Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... |
ORPHA:1359 |
3P25.3 Microdeletion Syndrome |
|
Bilateral tonic-clonic seizure, Patent ductus arteriosus, Generalized non-motor (absence) seizure... |
ORPHA:435638 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Limited elbow movement, Craniosynostosis, Decreased proportion of CD8-positive T cel... |
ORPHA:508533 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Skin rash, Elevated circul... |
ORPHA:829 |
Frontometaphyseal Dysplasia 2 |
|
Neurogenic bladder, Cryptorchidism, Pyloric stenosis, Patent ductus arteriosus, Cleft palate, Ulc... |
OMIM:617137 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:618381 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... |
ORPHA:309031 |
Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Patent ductus arteriosus, Abnormality of the kidney |
ORPHA:1860 |
Sotos Syndrome |
|
Ureteral duplication, Gastroesophageal reflux, Atrial septal defect, Chronic otitis media, Vesico... |
ORPHA:821 |
Methanol Poisoning |
|
Hyperlipidemia, Addictive alcohol use, Abdominal pain |
ORPHA:31825 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Gastroesophageal reflux, Otitis media, Atrial septal defect, Vesicouretera... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Gastroesophageal reflux, Otitis media, Atrial septal defect, Vesicouretera... |
ORPHA:353277 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ketonuria, Bilateral tonic-clonic seizure, Multifocal seizures, Infantile spasms, Hypoglycemic se... |
ORPHA:480864 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Congestive heart failure, Patent ductus arteriosus, Hypohidrosis, Cardiomyopathy, High palate, Dy... |
OMIM:616866 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Recurrent infections, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... |
OMIM:612840 |
Aymé-Gripp Syndrome |
|
Pericarditis, Proteinuria, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus |
ORPHA:1272 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonus |
ORPHA:254881 |
Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation, Epistaxis |
OMIM:614077 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Skin rash, Jaundice, Diarrhea, Hepatitis, Hepatic necrosis, H... |
ORPHA:90062 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Decreased circulating IgG level, Lymphopenia, Sinusitis, Recurrent b... |
OMIM:208900 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Abnormality of the urinary system, Tetralogy of Fallot, Anomalous pulmo... |
ORPHA:2184 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Bicuspid aortic valve, Cerebral hemorrhage |
OMIM:300049 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Tricuspid regurgitation, Patent ductus arteriosus, Aortic rupture, Bladder diverticulum, Mitral r... |
OMIM:614557 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:607876 |
Fg Syndrome Type 1 |
|
Hypospadias, Abnormal large intestine morphology, Malrotation of colon, Cryptorchidism, Pyloric s... |
ORPHA:93932 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Malabsorption, Feeding ... |
ORPHA:3463 |
Sweeney-Cox Syndrome |
|
Polyhydramnios, Bilateral cryptorchidism, Asplenia, Velopharyngeal insufficiency, Patent ductus a... |
OMIM:617746 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Diarrhea, Hype... |
OMIM:615387 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Hyperekplexia 3 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Interstitial Lung And Liver Disease |
|
Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Vomiting, Pu... |
OMIM:615486 |
Distal Xq28 Microduplication Syndrome |
|
Predominantly lower limb lymphedema, Epistaxis, Patent ductus arteriosus, Upper eyelid edema, Hig... |
ORPHA:293939 |
White-Sutton Syndrome |
|
Duplicated collecting system, Optic nerve hypoplasia, Patent ductus arteriosus, Cleft palate, Hig... |
OMIM:616364 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Coronary artery calcification, Arterial tortuosity, Arterial occlusion, Abnormal vascular morphol... |
ORPHA:289601 |
Herpes Simplex Virus Encephalitis |
|
Fatigue, Neutrophilia, Leukocytosis, Addictive alcohol use, Chills |
ORPHA:1930 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight |
ORPHA:589905 |
Dyskeratosis Congenita, X-Linked |
|
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Hyperhidrosis, Leukopenia, Conjun... |
OMIM:305000 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hypogonadism, Obesity |
OMIM:601794 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Jaundice, Patent ductus arteriosus, Neutropenia, 3-Methylglutaric aciduria, 3-M... |
OMIM:617248 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Pulmonic stenosis, Pulmonar... |
OMIM:608149 |
Fontaine Progeroid Syndrome |
|
Death in infancy, Prominent superficial veins, Tricuspid regurgitation, Absent nipple, Small scro... |
OMIM:612289 |
X-Linked Intellectual Disability, Armfield Type |
|
Cryptorchidism, Patent ductus arteriosus, Aminoaciduria, Organic aciduria, Abnormal cardiac septu... |
ORPHA:85276 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Bilateral cryptorchidism, Papillary cystadenoma of the epididymis, Aortic is... |
OMIM:180849 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... |
OMIM:613812 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Ventricular septal defect, Cryptorchidism, Epispadias, Patent ductus art... |
OMIM:615948 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Lipoma, Splenomegaly, Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
Anaplastic Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Tracheoesophageal fistula, Lymphadenopathy, Neoplasm of the lung... |
ORPHA:142 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Osteopetrosis, Decreased circ... |
OMIM:612301 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Bilateral tonic-clonic seizure, Urinary incontinence, Myoclonic seizure |
OMIM:620070 |
Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... |
OMIM:163950 |
Cranioectodermal Dysplasia 4 |
|
Recurrent pneumonia, Stage 5 chronic kidney disease |
OMIM:614378 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... |
OMIM:611489 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena... |
ORPHA:411629 |
Agel Amyloidosis |
|
Tongue atrophy, Proteinuria, Xerostomia, Stage 5 chronic kidney disease, Cardiomyopathy, Keratoco... |
ORPHA:85448 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis |
ORPHA:3165 |
Scimitar Syndrome |
|
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... |
ORPHA:185 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity |
ORPHA:363741 |
Wiedemann-Steiner Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Constipation, High palate, Recurrent otitis media |
OMIM:605130 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Patent ductus arteriosus, Cleft palate, Persistence of hemoglobin F, Mitral re... |
OMIM:612561 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Abdominal distention, Microcolon, Megacystis, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Anhidrosis, Sinus tachycardia, Elevated circulating creatine kinase concen... |
ORPHA:466650 |
Pelger-Huet Anomaly |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:169400 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomega... |
OMIM:252500 |
Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, External genital hypoplasia, Decreased response to growth hormone ... |
ORPHA:177907 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorrhage, Dysphagia |
ORPHA:25 |
Focal Myositis |
|
Myositis, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Stomatitis, Pulmonary fibrosis |
OMIM:612852 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Urinary incontinence, Cleft hard palate, Asplenia, Gastrointestinal dysmotility, V... |
ORPHA:2152 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Failure to thrive, Membranoproliferative glomerulonephritis, Ventricular septal def... |
OMIM:619525 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Abnormal cortical gyration, Generalized non-moto... |
ORPHA:79351 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo... |
ORPHA:251380 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure... |
OMIM:619580 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Urinary incontinence, Seizure, Arthrogryposis mu... |
OMIM:617193 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Bicornuate uterus... |
OMIM:154400 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... |
ORPHA:103910 |
Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... |
ORPHA:75565 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Clitoral hypertrophy, Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgen... |
OMIM:618820 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste... |
ORPHA:206572 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Intestinal malrotation, Duodenal ulcer, Ectopic kidney, Cryptorchidism,... |
OMIM:135900 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Patent ductus arteriosus, Uveitis, Atrial septal defect, Patent forame... |
OMIM:617044 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Anorexia, Leu... |
ORPHA:50918 |
Chronic Hiccup |
|
Malnutrition, Weight loss |
ORPHA:396 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Micropenis, Febrile seiz... |
OMIM:617798 |
Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Multiple joint contractures, Multifocal seizures, Bilateral tonic-clonic seizure, F... |
OMIM:618143 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Diarrhea, Primary hyperparathyroidism, Abnormal liver parenchyma... |
ORPHA:1332 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Renal h... |
ORPHA:93271 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Abnormality of the ureter, Uterus didelphys, Aplasia of the bladder, Bicornuate u... |
OMIM:200980 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Ulnar deviation of the wrist, Elbow contracture, Eczema, Allergic rhinitis, Patent ductus arterio... |
OMIM:618162 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Proteinuria, Remnants of the hyaloid vascular sy... |
OMIM:609049 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous... |
ORPHA:1120 |
Juvenile Dermatomyositis |
|
Calcinosis, Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Elevated circulating ... |
ORPHA:93672 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... |
ORPHA:822 |
19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Ventricular septal defect, Cachexia, Supernumerary nipple, Cryptorchidism, Feeding d... |
ORPHA:217346 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... |
OMIM:211600 |
Graves Disease, Susceptibility To, 1 |
|
Increased circulating free T4 concentration, Abnormal abdomen morphology, Increased circulating f... |
OMIM:275000 |
Scheie Syndrome |
|
Aortic regurgitation, Hepatomegaly, Splenomegaly, Rhinitis, Mucopolysacchariduria |
ORPHA:93474 |
Pmm2-Cdg |
|
Lymphedema, Elevated circulating thyroid-stimulating hormone concentration, Intracranial hemorrha... |
ORPHA:79318 |
Isaacs Syndrome |
|
Hyperhidrosis, Weight loss |
ORPHA:84142 |
Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Anhidrosis, Proteinuria, Small for gestational age, Splenomega... |
OMIM:133540 |
Early Infantile Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure... |
ORPHA:1934 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Polyhydramnios... |
OMIM:261540 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Bilateral cryptorchidism, Patent ductus arteriosus, Optic disc coloboma, Recurrent pneumonia, Chr... |
OMIM:300472 |
Poems Syndrome |
|
Lymphoproliferative disorder, Pericardial effusion, Hypothyroidism, Primary adrenal insufficiency... |
ORPHA:2905 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Proteinuria, Abnormal heart valve morphol... |
ORPHA:77261 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Chronic diarrhea, Pulmonary fibrosis |
OMIM:613989 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Renal hypoplasia/aplasia, Patent ductus arteriosus, Abnormality of female external genitalia, Vag... |
ORPHA:1112 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Gastroint... |
ORPHA:1572 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus |
OMIM:616672 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anisocytosis, Anemia ... |
OMIM:224120 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Ab... |
ORPHA:93941 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Primary hyperaldosteronism, Bilateral tonic-clonic seizure, Nephrolithiasis, Myoclonic seizure |
OMIM:615474 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Hypospadias, Bilateral tonic-clonic seizure |
ORPHA:79350 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Bilateral tonic-clonic seizure, Steroid-dependent nephrotic syndrome, Urinary incontinence, Tonic... |
OMIM:300912 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Optic nerve hypoplasia, Polyhydramnios, Cryptorchidism, Patent ductus ar... |
OMIM:617506 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Arrhythmia, Cachexia, Feeding difficulties |
ORPHA:157973 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia |
ORPHA:254534 |
C Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Constip... |
ORPHA:1308 |
Jaberi-Elahi Syndrome |
|
Bilateral tonic-clonic seizure, Joint hypermobility, Joint stiffness |
OMIM:617988 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
Thrombocytopenia 1 |
|
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... |
OMIM:313900 |
Noonan Syndrome 10 |
|
Mitral stenosis, Cryptorchidism, Increased nuchal translucency, Patent ductus arteriosus, Coarcta... |
OMIM:616564 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, Shawl scrotum, Chronic otitis media, Pulmonary... |
ORPHA:261279 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Diarrhea, In... |
OMIM:601847 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Polyhydramnios, Cryptorchidism, Increased nucha... |
OMIM:605275 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Patent ductus arteriosus, Death in childhood |
OMIM:618961 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Ectopic kidney, High palate, Gastroesophageal reflux, Hypothyroidism, Bifid uvula, Abnormality of... |
OMIM:607872 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Myelodysplasia, Splenomegaly, Chronic myelogen... |
ORPHA:71493 |
Roberts Syndrome |
|
Cryptorchidism, Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Kawasaki Disease |
|
Sterile pyuria, Conjunctivitis, Cholecystitis, Abdominal pain, Leukocytosis, Vasculitis, Hepatiti... |
ORPHA:2331 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Ventricular septal defect, Patent ductus arteriosus, Chronic constipation, Dysphagia, Atrial sept... |
OMIM:617061 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Gaucher Disease |
|
Elevated circulating C-reactive protein concentration, Feeding difficulties in infancy, Osteoarth... |
ORPHA:355 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Ctcf-Related Neurodevelopmental Disorder |
|
Phimosis, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Hypoplast... |
ORPHA:363611 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Microcytic anemia, Flexion contracture, Bone p... |
OMIM:256040 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Fraser Syndrome |
|
Encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Cry... |
ORPHA:2052 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Marchiafava-Bignami Disease |
|
Addictive alcohol use, Urinary incontinence, Aggressive behavior |
ORPHA:221074 |
Rett Syndrome |
|
Failure to thrive, Increased serum leptin |
ORPHA:778 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Vomiting, Hyponatremia, Acne, Long peni... |
ORPHA:90794 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Interstitial... |
OMIM:615952 |
Cornelia De Lange Syndrome |
|
Atrial septal defect, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal insuf... |
ORPHA:199 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Neurogenic bladder, Bilateral tonic-clonic seizure, Urinary incontinence, Fractures of the long b... |
ORPHA:496641 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... |
OMIM:614207 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Patent ductus arteriosus, Increased nuchal translucency, Tricuspid regurgitation |
OMIM:618870 |
Glass Syndrome |
|
Bilateral tonic-clonic seizure, Seizure, Camptodactyly, Febrile seizure (within the age range of ... |
OMIM:612313 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:30925 |
Marshall-Smith Syndrome |
|
Optic nerve hypoplasia, Bilateral cryptorchidism, Cryptorchidism, Pyloric stenosis, Patent ductus... |
OMIM:602535 |
Developmental And Epileptic Encephalopathy 49 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus |
OMIM:617281 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Protruding tongue, Splenomegaly, Patent ductus arteriosus, Optic atrophy, Sea-blue ... |
OMIM:230600 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thri... |
OMIM:618278 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Rheumatoid Arthritis |
|
Fatigue, Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positiv... |
OMIM:180300 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Patent ductus arteriosus, Opt... |
ORPHA:1790 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Poor appetite, Weight loss, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Conjunctival ... |
ORPHA:312 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Enlarged labia minora, Polyhydramnios, Cryptorchidism, Patent duct... |
OMIM:268300 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Xerostomia, Gastroesophageal reflux, Nausea, Abdominal pain, Bronchiectasis,... |
ORPHA:99921 |
Chitayat Syndrome |
|
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
OMIM:617180 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Urinary incontinence, Patent ductus arteriosus, Constipation, Gastroesophageal reflux, Hepatic st... |
OMIM:619934 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Feingold Syndrome |
|
Esophageal atresia, Patent ductus arteriosus, Abnormality of the spleen, Annular pancreas, Duoden... |
ORPHA:1305 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Eczema, Ker... |
OMIM:308205 |
Proboscis Lateralis |
|
Ventricular septal defect, External genital hypoplasia, Unilateral renal agenesis, Patent ductus ... |
ORPHA:141099 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Bronchiectasis, Malar rash... |
OMIM:210900 |
Neurocardiofaciodigital Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Double inlet left ventricle, Vesicoureteral reflu... |
OMIM:619869 |
Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Tricuspid stenosis, Polyhydramnios, Asplenia, Esophageal atres... |
OMIM:164280 |
X Small Rings |
|
Joint laxity, Bilateral tonic-clonic seizure, Osteoporosis, Reduced bone mineral density, Seizure |
ORPHA:96201 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Subvalvular aortic stenosis |
ORPHA:1338 |
Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Patent ductus arteriosus, Tetralogy of Fallot, Palpitations, Mitral steno... |
ORPHA:2847 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... |
ORPHA:980 |
Scleromyxedema |
|
Myalgia, Paraproteinemia, Arthralgia, Dysphagia |
ORPHA:167635 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Retinopathy of prematurity, Hydr... |
OMIM:620244 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Bladder diverticulum, Delayed pubic bone ossification, Atonic seizure, Bilateral tonic-clonic sei... |
ORPHA:2976 |
Christianson Syndrome |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia |
ORPHA:85278 |
Plague |
|
Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inflammation o... |
ORPHA:707 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Hepatic fibrosis, Death in childhood, Micropenis, Hypothyroidism, Hepatom... |
OMIM:243800 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bilateral tonic-clonic seizure |
OMIM:616351 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... |
ORPHA:457351 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, Hepatic failure, Hyperb... |
OMIM:235555 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, High, narrow palate, Patent ductus arterio... |
OMIM:612863 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Inflammation of the large intestine, Myeloid leukemia, Hepatic fa... |
ORPHA:331 |
W Syndrome |
|
Bilateral tonic-clonic seizure, Camptodactyly |
ORPHA:2804 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
ORPHA:158048 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Atrial se... |
OMIM:613795 |
Ritscher-Schinzel Syndrome 2 |
|
Intestinal malrotation, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Pulmonary ar... |
OMIM:300963 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
Trisomy 18 |
|
Ventricular septal defect, Cachexia, Abnormality of the upper urinary tract, Cryptorchidism, Esop... |
ORPHA:3380 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Intestinal malrotation, Patent ductus arteriosus, Submucous cleft hard palate... |
ORPHA:2712 |
Moynahan Syndrome |
|
Hyperkeratosis, Cachexia |
ORPHA:2574 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Urinary incontinence, Cleft hard palate, Asplenia, Vesicoureteral reflux, Webbed p... |
ORPHA:261552 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Anorexia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weig... |
ORPHA:1302 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Bilateral tonic-clonic seizure |
OMIM:619278 |
Odontochondrodysplasia |
|
Death in infancy, Patent ductus arteriosus |
ORPHA:166272 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Atrial septal defect, Hypospadias, Abnormality of the kidney, Ventricular septal d... |
OMIM:235730 |
Alexander Disease Type I |
|
Failure to thrive, Vomiting, Cachexia, Dysphagia |
ORPHA:363717 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose... |
OMIM:219090 |
Mogs-Cdg |
|
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... |
ORPHA:79330 |
1Q44 Microdeletion Syndrome |
|
Vesicoureteral reflux, Bilateral tonic-clonic seizure, Horseshoe kidney |
ORPHA:238769 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer, P... |
OMIM:131100 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria |
OMIM:268315 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Cachexia, Obesity, Hyperhidrosis, High palate, Decreased testicular size |
ORPHA:85293 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Patent ductus arteriosus, Recurrent pneumonia, Persistence of hemoglobin F, Increa... |
OMIM:619769 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Sei... |
ORPHA:395 |
Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:615538 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
Pitt-Hopkins-Like Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus, F... |
OMIM:610042 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Leukocytosis, Impairment of activities of daily living, Addictive alcohol use |
ORPHA:90065 |
Weaver Syndrome |
|
Bilateral tonic-clonic seizure, Patent ductus arteriosus, Generalized non-motor (absence) seizure... |
OMIM:277590 |
Hereditary Late-Onset Parkinson Disease |
|
Spastic/hyperactive bladder, Weight loss, Chronic constipation, Dysphagia, Orthostatic hypotensio... |
ORPHA:411602 |
Costello Syndrome |
|
Renal insufficiency, Ventricular septal defect, Rhabdomyosarcoma, Pyloric stenosis, Bladder carci... |
OMIM:218040 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... |
ORPHA:44890 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Transient ischemic attack, Optic nerve hypoplasia, Unilateral renal agenesis,... |
ORPHA:500150 |
Riboflavin Transporter Deficiency |
|
Hypertension, Cachexia, Dysphagia |
ORPHA:97229 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin |
OMIM:614008 |
Migraine, Familial Hemiplegic, 2 |
|
Bilateral tonic-clonic seizure, Focal motor seizure |
OMIM:602481 |
Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Infla... |
ORPHA:33577 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Septate vagina, Cryptor... |
OMIM:300166 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Intestinal polyposis, Angina pectoris, Cachexia, Abnormal large i... |
ORPHA:109 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Igg4-Related Thyroid Disease |
|
Autoimmunity, Increased circulating IgG4 level, Anti-thyroid peroxidase antibody positivity, Thyr... |
ORPHA:64744 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Intestinal malrotation, Asplenia, Patent ductus arteriosus, Partial ano... |
OMIM:619657 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Pachygyria, Simplified gyral pattern, Decreased circulating anti... |
OMIM:617062 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Bilateral tonic-clonic seizure, Increased urinary sulfite level, Xanthi... |
OMIM:252160 |
Pontocerebellar Hypoplasia, Type 17 |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Gastroesophag... |
OMIM:619909 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Ventricular s... |
OMIM:619418 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Renal dysplasia, Abnormal circulating thyroid hormone concentration, Cyst of the ductus choledoch... |
ORPHA:480880 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Increased fecal coproporphyrin... |
OMIM:263700 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Portal hypertension, Abdominal pain, Co... |
ORPHA:567983 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Gastrostomy tube feeding in infancy, Urinary incontinence, Cachexia, Dysphagia |
ORPHA:300605 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Cachexia, Feeding difficulties in infancy, Ab... |
ORPHA:800 |
Niemann-Pick Disease, Type C2 |
|
Pulmonary fibrosis, Dysphagia |
OMIM:607625 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, Enlarged labia minora, Cr... |
OMIM:606170 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pulmonary fibrosis |
OMIM:224230 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Seizure, Bilateral tonic-clonic seizure, Hydronephrosis, Myoclonus |
ORPHA:247262 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Anorexia, Feeding difficulties in infancy, Splenomegaly, Leukopenia, Urin... |
ORPHA:1328 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity |
ORPHA:69663 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... |
OMIM:620224 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Bilateral tonic-clonic seizure |
ORPHA:369840 |
Mccune-Albright Syndrome |
|
Intestinal polyposis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone c... |
OMIM:174800 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Re... |
ORPHA:3404 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Dysbetalipoproteinemia |
|
Diabetes mellitus, Hypertriglyceridemia, Obesity, Xanthelasma, Hypercholesterolemia, Hypothyroidism |
ORPHA:412 |
Orofaciodigital Syndrome Type 3 |
|
Cherry red spot of the macula, Stage 5 chronic kidney disease |
ORPHA:2752 |
Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Dextrocardia, Large placenta, Patent ductus arteriosus, Ascend... |
ORPHA:1662 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... |
OMIM:301078 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent bronchoalv... |
OMIM:265120 |
Carpenter Syndrome 2 |
|
Tricuspid regurgitation, Dextrocardia, Bilateral cryptorchidism, Cryptorchidism, Situs inversus t... |
OMIM:614976 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coarctation of aor... |
ORPHA:3338 |
Kinsship Syndrome |
|
Osteopenia, Bilateral tonic-clonic seizure, Focal-onset seizure, Renal hypoplasia, Horseshoe kidn... |
OMIM:619297 |
Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivit... |
ORPHA:589 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Recurrent bacterial skin infections, Abnormal circulating porphyrin concentrati... |
ORPHA:95159 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties |
OMIM:616801 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pulmonary fibrosis |
OMIM:613990 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Biotinidase Deficiency |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Organic aciduria,... |
ORPHA:79241 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias, Polyhydramnios, Adrenal hypoplasia, Patent ductus arteriosus, ... |
OMIM:275210 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... |
ORPHA:288 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Abnormal pulmonary interstitial morphology |
OMIM:619013 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... |
ORPHA:99050 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Odynophagia, Schwannoma, Jaw claudication, Malnutrition, Weight loss, ... |
ORPHA:221098 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anhidrosis, Fasciitis, Osteomyelitis, Orthostatic hypotension due to autonomic dysfunction, Absce... |
ORPHA:642 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss, Palmoplantar keratoderma, Abnormal circulating lipid concentration, Hyperl... |
ORPHA:1979 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Atelectasis, Chronic diarrhea, Bronchiectasis, Abnormal pulmonary interstitial morphology, Gastro... |
OMIM:620233 |
Contractural Arachnodactyly, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... |
OMIM:121050 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Diarrhea, Bronchiectasis, Weight loss, Lymphadenopathy |
ORPHA:411703 |
Orofaciodigital Syndrome Type 14 |
|
Hamartoma of tongue, Bilateral cryptorchidism, Epispadias, Patent ductus arteriosus, Bifid tongue... |
ORPHA:434179 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Palpebral edema, Abnormality of the kidney, Increased circulating IgG4 level, Eosinoph... |
ORPHA:449563 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, Sinus bradycardia, Varicose ... |
OMIM:126320 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog... |
ORPHA:576 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Patent ductus arterio... |
OMIM:153400 |
Nivelon-Nivelon-Mabille Syndrome |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:600092 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Keratitis, Absent retinal pigment epithelium, Patent ductus arteriosus, Xe... |
ORPHA:1051 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Interstitial pneumonitis, Pulmonary fibrosis |
OMIM:127550 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Bilateral tonic-clonic seizure, Hyposthenuria, Vesicoureteral reflux, Hydrone... |
OMIM:615926 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Weight loss, Lymphadenopathy, Hepato... |
ORPHA:85408 |
Trichinellosis |
|
Skin rash, Ocular pain, Increased circulating IgE level, Anisocoria, Conjunctivitis, Dysphagia |
ORPHA:863 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... |
ORPHA:2306 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Intestinal bleeding, Pulmonary fibrosis |
OMIM:612199 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Precocious puberty, Vascular dilatation, Patent ductus art... |
ORPHA:2637 |
Lethal Faciocardiomelic Dysplasia |
|
Patent ductus arteriosus, Hypoplastic left heart |
ORPHA:1972 |
Sandhoff Disease |
|
Bilateral tonic-clonic seizure, Urinary incontinence, Myoclonic seizure |
OMIM:268800 |
Mcdonough Syndrome |
|
Cryptorchidism, Cachexia |
ORPHA:2471 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Hyperthyroidism, Increased circulating free T4 concentration, Weight loss, Hypokalem... |
OMIM:613239 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Lipoid pneumonia |
OMIM:620326 |
De Barsy Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on trunk, High... |
ORPHA:2962 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Hyperhidrosis, Weight loss |
ORPHA:99868 |
Idiopathic Bronchiectasis |
|
Acute infectious pneumonia, Myocardial infarction, Bronchiectasis, Cachexia |
ORPHA:60033 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Immune-Mediated Necrotizing Myopathy |
|
Abnormal pulmonary interstitial morphology, Dysphagia |
ORPHA:206569 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615802 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, ... |
ORPHA:96253 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Weight loss, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, High palate, Abdominal aortic aneurysm, Bifid uvula, Arteria... |
ORPHA:284984 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Bilateral tonic-clonic seizure |
ORPHA:423479 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Char Syndrome |
|
Patent ductus arteriosus, Supernumerary nipple |
ORPHA:46627 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia, Telangiectasia of the skin, Myoc... |
ORPHA:221 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Precocious puberty, Cry... |
ORPHA:96191 |
Familial Hyperaldosteronism Type I |
|
Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism |
ORPHA:403 |
Neu-Laxova Syndrome 1 |
|
Renal agenesis, Polyhydramnios, Bifid uterus, Cryptorchidism, Patent ductus arteriosus, Cleft pal... |
OMIM:256520 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... |
ORPHA:2929 |
Pelizaeus-Merzbacher Disease |
|
Abnormality of the urinary system, Failure to thrive in infancy, Cachexia, Bowel incontinence |
ORPHA:702 |
Phace Association |
|
Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Vascular dilatation, Paten... |
OMIM:606519 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Ivic Syndrome |
|
Intestinal malrotation, Leukocytosis, Patent ductus arteriosus, Rectovaginal fistula, Anal atresi... |
OMIM:147750 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia, Dexamethasone-suppressible pri... |
ORPHA:251274 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Urinary incontinence,... |
ORPHA:2729 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Patent ductus art... |
OMIM:610505 |
Branchiooculofacial Syndrome |
|
Hamartoma, Renal agenesis, Hypospadias, Supernumerary nipple, Malrotation of colon, Cryptorchidis... |
OMIM:113620 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic... |
ORPHA:2001 |
Malt Lymphoma |
|
Nausea and vomiting, B-cell lymphoma, Abdominal pain, Mediastinal lymphadenopathy, Weight loss, L... |
ORPHA:52417 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Increased circulating antibody level, Dysphagia |
OMIM:606002 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M... |
ORPHA:555877 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, ... |
ORPHA:261537 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex... |
ORPHA:100086 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... |
ORPHA:1517 |
East Syndrome |
|
Polydipsia, Hyperaldosteronism, Salt craving |
ORPHA:199343 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Chromosome Xp11.3 Deletion Syndrome |
|
Bilateral tonic-clonic seizure |
OMIM:300578 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Flexion contra... |
ORPHA:398069 |
Pallister-Killian Syndrome |
|
Small scrotum, Edema of the dorsum of feet, Polyhydramnios, Renal cyst, Anteriorly placed anus, B... |
OMIM:601803 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Ventricular septal defect,... |
OMIM:164210 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:478029 |
Oliver Syndrome |
|
Elbow flexion contracture, Camptodactyly of finger, Bilateral tonic-clonic seizure, Knee flexion ... |
ORPHA:2920 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Anal atresia, Cachexia, Hypohidrosis |
ORPHA:884 |
Acrodermatitis Enteropathica |
|
Glossitis, Anorexia, Malabsorption, Pustule, Poor appetite, Chronic diarrhea, Cheilitis, Weight l... |
ORPHA:37 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
ORPHA:329308 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure with focal onset, Abnormality of neu... |
ORPHA:163681 |
Congenital Tracheomalacia |
|
Pneumonia, Cardiomegaly, Esophageal atresia, Patent ductus arteriosus, Partial anomalous pulmonar... |
ORPHA:95430 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Bilateral tonic-clonic seizure, Seizure, Micropenis, Hydronephrosis |
OMIM:301040 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Gastroparesis, Intestinal pseudo-obstruction, Dilated cardiomyopathy, Weight loss, Mitral valve p... |
OMIM:607459 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Seborrheic dermatitis, Patent ductus arteriosus, Hyperhidrosis, Arthritis, High palate, Eczematoi... |
OMIM:259100 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Patent ductus arteriosus, Increased nuchal translu... |
ORPHA:79345 |
Hermansky-Pudlak Syndrome 10 |
|
Bilateral tonic-clonic seizure, Focal myoclonic seizure |
OMIM:617050 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Hypohidrosis, Constipat... |
ORPHA:163746 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Aspiration pneumonia, Weight loss |
ORPHA:216866 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Polyhydramnios, Cryptorchidism, Patent ductus arteriosus, High ... |
OMIM:609942 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Anterior pituitary hypoplasia, Su... |
ORPHA:466791 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Bilateral tonic-clonic seizure, Seizure, Urinary retention, Focal impaired awareness seizure, Ato... |
OMIM:617799 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Gastroesophageal reflux, Narrow palate, High palate, Cachexia |
OMIM:618186 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorchidism, High, narrow palate,... |
OMIM:300967 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620113 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... |
ORPHA:371364 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Cachexia, Abnormal circulating creatine concentration, Ileus, Constipation |
ORPHA:52503 |
Hypomandibular Faciocranial Dysostosis |
|
Patent ductus arteriosus, Optic disc coloboma, Aglossia |
OMIM:241310 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ... |
OMIM:608710 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Multiple joint contractures, Bilateral tonic-clonic seizure, Urinary incontinence, Infantile spas... |
ORPHA:447997 |
Myhre Syndrome |
|
Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Coarctation of aort... |
OMIM:139210 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Nausea, Jaundice, Malnutrition, Weight loss, Chronic calcifying pancre... |
ORPHA:103918 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Cachexia, Abnormality... |
ORPHA:2072 |
Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Pelvic kidney, ... |
ORPHA:466943 |
Gitelman Syndrome |
|
Fatigue, Salt craving, Abdominal pain, Arthralgia, Polydipsia, Chondrocalcinosis |
OMIM:263800 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Optic disc coloboma, High palate, Cleft palate |
ORPHA:52055 |
Hallermann-Streiff Syndrome |
|
Tracheomalacia, Bilateral tonic-clonic seizure, Decreased number of sternal ossification centers,... |
OMIM:234100 |
Desmosterolosis |
|
Patent ductus arteriosus, Ambiguous genitalia, female, Abnormal circulating cholesterol concentra... |
OMIM:602398 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Septo-Optic Dysplasia Spectrum |
|
Fatigue, Polydipsia |
ORPHA:3157 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Patent ductus arteriosus, Mitral regurgitation, Increased size of nasopharyngeal adenoids |
ORPHA:457395 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Hyperlipoproteinemia, Type I |
|
Nausea, Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Lact... |
OMIM:238600 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Increased circulating very l... |
OMIM:609313 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss |
ORPHA:703 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Typical absence seizure, Pelvic kidney, D... |
ORPHA:466950 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
Flynn-Aird Syndrome |
|
Primary adrenal insufficiency, Cachexia |
ORPHA:2047 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Pemphigus Vulgaris |
|
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss, Acantholysis |
ORPHA:704 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Camptodactyly, Contracture of the pro... |
OMIM:280000 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Hypospadias, Bilateral tonic-clonic seizure, Focal-onset seizure, Osteoporosis, Seizure, Lower-li... |
ORPHA:459070 |
Alternating Hemiplegia Of Childhood |
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Seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Status epilepticus |
ORPHA:2131 |
Weill-Marchesani Syndrome 2 |
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Congestive heart failure, Patent ductus arteriosus, Narrow palate, Mitral regurgitation, High pal... |
OMIM:608328 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Arthrogryposis multiplex congenita, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure |
OMIM:619512 |
Hyperaldosteronism, Familial, Type Iii |
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Polydipsia, Hyperaldosteronism |
OMIM:613677 |
Down Syndrome |
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Aganglionic megacolon, Protruding tongue, Patent ductus arteriosus, Pulmonary artery stenosis, Pa... |
OMIM:190685 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Bilateral tonic-clonic seizure, Infantile spasms, Lacticaciduria, Seizure, Generalized myoclonic ... |
ORPHA:255210 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Lower-limb join... |
ORPHA:513456 |
Carney Complex, Type 1 |
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Elevated circulating growth hormone concentration, Congestive heart failure, Pituitary adenoma, P... |
OMIM:160980 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
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Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
Infantile Krabbe Disease |
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Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Abnormal heart rate variabil... |
ORPHA:206436 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
Weill-Marchesani Syndrome 1 |
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Patent ductus arteriosus, Narrow palate, Mitral regurgitation, Pulmonic stenosis, Aortic valve st... |
OMIM:277600 |
Autosomal Dominant Coarctation Of Aorta |
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Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborr... |
ORPHA:83617 |
Loeys-Dietz Syndrome 2 |
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Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Cirrhotic Cardiomyopathy |
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Exercise intolerance, Postexertional symptom exacerbation, Addictive alcohol use, Asthenia |
ORPHA:57777 |
Carney-Stratakis Syndrome |
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Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Gorlin-Chaudhry-Moss Syndrome |
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Umbilical hernia, Patent ductus arteriosus |
ORPHA:2095 |
Tenorio Syndrome |
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Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Klatskin Tumor |
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Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis, Lymphadenop... |
ORPHA:99978 |
Primary Unilateral Adrenal Hyperplasia |
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Glucocortocoid-insensitive primary hyperaldosteronism, Polydipsia |
ORPHA:231580 |
Apolipoprotein C-Ii Deficiency |
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Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Hypospadias, Bilateral tonic-clonic seizure, Unilateral renal agenesis, Generalized myoclonic sei... |
ORPHA:268261 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Generalized-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure |
OMIM:620066 |
Deafness-Craniofacial Syndrome |
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Patent ductus arteriosus, Bifid tongue |
ORPHA:3241 |
Reynolds Syndrome |
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Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Erythema nodosum, Splenomegaly, Jaundice, ... |
OMIM:613471 |
Rett Syndrome |
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Cachexia, Constipation, Gastroesophageal reflux, Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizu... |
OMIM:301044 |
Cysticercosis |
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Iridocyclitis, Stiff neck, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
Pancreatoblastoma |
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Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Jaundice, Diarrh... |
ORPHA:677 |
Choreoacanthocytosis |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythr... |
ORPHA:2388 |
Teratoma, Pineal |
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Polydipsia |
OMIM:273120 |
Oculopharyngodistal Myopathy 1 |
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Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concentration, Dilated cardi... |
OMIM:164310 |
Gaucher Disease, Type I |
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Abnormal pulmonary interstitial morphology |
OMIM:230800 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Thyroid dysgenesis, Polyhydramnios, Thyroid agenesis, Cryptorchidism, Patent ductus arteriosus, S... |
ORPHA:3047 |
Oromandibular Dystonia |
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Dysphagia, Weight loss |
ORPHA:93958 |
Holoprosencephaly 14 |
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Gray matter heterotopia, Bilateral tonic-clonic seizure, Periventricular heterotopia |
OMIM:619895 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
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Polydipsia, Hyperaldosteronism, Salt craving |
OMIM:612780 |
10Q22.3Q23.3 Microdeletion Syndrome |
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Intestinal polyposis, Patent ductus arteriosus, Breast aplasia |
ORPHA:276413 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Joint laxity, Micropenis, Limitation of joint mobility, Bilateral tonic-clonic seizure |
ORPHA:457359 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Polydipsia, Aggressive behavior, Hyperlipidemia, Recurrent upper respiratory tract infections, Se... |
ORPHA:293987 |
Loeys-Dietz Syndrome 1 |
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Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... |
OMIM:609192 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
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Cachexia |
ORPHA:1389 |
Osteosarcoma |
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Weight loss |
ORPHA:668 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperthyroidism, Small for gestational age, Diarrhea, Thyrotoxicosis with diffuse goiter, Activat... |
ORPHA:424 |
Knobloch Syndrome 2 |
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Chronic constipation, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections |
OMIM:618458 |
Congenital Total Pulmonary Venous Return Anomaly |
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Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
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Polydipsia |
OMIM:125800 |
Loeys-Dietz Syndrome |
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Aortic dissection, Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, High palate, Ut... |
ORPHA:60030 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
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Polydipsia |
OMIM:304800 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
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Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Turnpenny-Fry Syndrome |
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Aortic regurgitation, Polyhydramnios, Patent ductus arteriosus, Chronic constipation, Gastroesoph... |
OMIM:618371 |
Hartsfield Syndrome |
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Micropenis, Hypospadias, Craniosynostosis, Bilateral tonic-clonic seizure |
OMIM:615465 |
Short Syndrome |
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Poor appetite, Weight loss |
ORPHA:3163 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Seizure, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:618426 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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3-hydroxydicarboxylic aciduria, Hypospadias, Lacticaciduria, Bilateral tonic-clonic seizure |
OMIM:252010 |
Hutchinson-Gilford Progeria Syndrome |
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Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Wei... |
ORPHA:740 |
Insulin-Like Growth Factor I Deficiency |
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Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration |
OMIM:608747 |
De Sanctis-Cacchione Syndrome |
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Bilateral tonic-clonic seizure |
OMIM:278800 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Spina bifida, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation of aorta, Chr... |
OMIM:619480 |
Holoprosencephaly 13, X-Linked |
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Septo-optic dysplasia, Optic nerve hypoplasia, Patent ductus arteriosus, Submucous cleft hard pal... |
OMIM:301043 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
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Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Coffin-Siris Syndrome 4 |
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Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:614609 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Joint laxity, Bilateral tonic-clonic seizure, Patent ductus arteriosus, Generalized non-motor (ab... |
OMIM:612474 |
Perry Syndrome |
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Weight loss |
OMIM:168605 |
Familial Gestational Hyperthyroidism |
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Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hor... |
ORPHA:99819 |
Holt-Oram Syndrome |
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Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... |
OMIM:142900 |
Congenital Fiber-Type Disproportion Myopathy |
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Poor appetite, Nasogastric tube feeding in infancy, Cor pulmonale, Weight loss, Abnormal heart mo... |
ORPHA:2020 |
Axenfeld-Rieger Syndrome, Type 3 |
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Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Joint laxity, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic ... |
OMIM:620330 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Skin rash, Cachexia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:220295 |
Acrofacial Dysostosis, Cincinnati Type |
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Patent ductus arteriosus, Cleft palate |
OMIM:616462 |
Pituitary Dermoid And Epidermoid Cysts |
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Polydipsia |
ORPHA:91351 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Hyperextensibility at elbow, Seizure, Generalized myoclonic-atonic seizure, Bilateral tonic-cloni... |
OMIM:614756 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
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Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Cohen-Gibson Syndrome |
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Cryptorchidism, Patent ductus arteriosus, Umbilical hernia |
OMIM:617561 |
Parkinson Disease 4, Autosomal Dominant |
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Orthostatic hypotension, Weight loss |
OMIM:605543 |
Combined Oxidative Phosphorylation Deficiency 15 |
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Seizure, Bilateral tonic-clonic seizure with focal onset |
OMIM:614947 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Abnormal circulating protein concentration, Weight loss |
ORPHA:747 |
Stickler Syndrome |
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Cachexia, Feeding difficulties in infancy, Osteoarthritis, Short hard palate, Uveitis, Cleft pala... |
ORPHA:828 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Gastroesophageal reflux, Emphysema, Vomiting, Abnormal pulmonary interstitial morphology |
OMIM:613658 |
Orofaciodigital Syndrome Type 2 |
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Bilateral tonic-clonic seizure |
ORPHA:2751 |
Gerstmann-Straussler Disease |
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Weight loss |
OMIM:137440 |
Fryns-Smeets-Thiry Syndrome |
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Cachexia |
ORPHA:2058 |
Marfan Syndrome |
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Mitral valve calcification, Arthralgia/arthritis, Cachexia, High, narrow palate, Congestive heart... |
ORPHA:558 |
Kabuki Syndrome 1 |
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Crossed fused renal ectopia, Bilateral tonic-clonic seizure with focal onset, Micropenis, Seizure... |
OMIM:147920 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
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Bicuspid aortic valve, Secundum atrial septal defect, Patent ductus arteriosus, Chalazion, Pulmon... |
OMIM:613355 |
Meconium Ileus |
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Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Abnormal mitral valve morphology, Short hard palate, Cachexia, Anorexia |
ORPHA:1969 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal pulmonary interstitial morphology |
ORPHA:77293 |
Norrie Disease |
|
Cachexia, Cryptorchidism, Neoplasm of the eye, Failure to thrive, Vascular neoplasm |
ORPHA:649 |