Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Ocular hypertension |
OMIM:618880 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Ocular hypertension, Microcornea, Buphthalmos, Anterior ... |
OMIM:269400 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Glaucoma 3, Primary Congenital, E |
|
Corneal stromal edema, Megalocornea, Ocular hypertension |
OMIM:617272 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Restrictive cardio... |
OMIM:607685 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Ocular hypertension, Uv... |
ORPHA:98973 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Ocular hypertension, Shallow anterior chamber, Posterior synechiae ... |
OMIM:613195 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle, Ocular hypertension |
OMIM:156600 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Glaucoma 1, Primary Open Angle, C |
|
Ocular hypertension |
OMIM:601682 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Ocular hypertension, Microcornea, Posterior synechiae of... |
OMIM:610256 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... |
OMIM:618459 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Anterior Segment Dysgenesis 1 |
|
Ocular hypertension, Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior ... |
OMIM:107250 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ocular hypertension, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:614195 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Microphthalmia, Isolated 6 |
|
Microcornea, Ocular hypertension |
OMIM:613517 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Nephrolithias... |
ORPHA:369929 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Elevated hepa... |
ORPHA:99845 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... |
OMIM:618987 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... |
OMIM:619924 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556037 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp... |
OMIM:103900 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556030 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... |
OMIM:610600 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Lymphopenia, Recurrent urinary tract infections, Hepatomegaly, Ventricular septal defect, Splenom... |
OMIM:620210 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal cyst, Abnormal systemic arterial morphology, Decreased glomerular filtration rate, Elevated... |
ORPHA:730 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Ocular anterior segment dysgenesis, Iris coloboma, Ocular hypertension, Peters anomaly |
OMIM:610023 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... |
OMIM:615474 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, D... |
OMIM:203400 |
Neovascular Glaucoma |
|
Iris neovascularization, Ocular hypertension, Corneal stromal edema, Abnormal uvea morphology, Ab... |
ORPHA:94058 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal... |
ORPHA:320 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoa... |
OMIM:264350 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Immunodeficiency 102 |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Partial absence of specific anti... |
OMIM:301082 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated creatine kinase afte... |
ORPHA:159 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Decreased circulating antibody level |
OMIM:300988 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... |
OMIM:177735 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... |
OMIM:601198 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease... |
ORPHA:859 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Increas... |
ORPHA:90791 |
Adenine Phosphoribosyltransferase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra... |
ORPHA:976 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, ... |
ORPHA:95409 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... |
ORPHA:563 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... |
OMIM:540000 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Foam cells, Decreased circulating... |
OMIM:619802 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Weill-Marchesani Syndrome 3 |
|
Ocular hypertension, Shallow anterior chamber, Microspherophakia, Ectopia lentis |
OMIM:614819 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Dec... |
OMIM:613677 |
Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Left ... |
ORPHA:171445 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... |
OMIM:300400 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia... |
ORPHA:97362 |
Aapoaiv Amyloidosis |
|
Paraproteinemia, Left bundle branch block, Sinus bradycardia, Elevated circulating creatinine con... |
ORPHA:439232 |
Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level |
OMIM:609529 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hyperalaninemia, Hepatomegaly, Increased urine succinate level, Elevated... |
OMIM:619048 |
Gaisböck Syndrome |
|
Myocardial infarction, Nephrocalcinosis, Increased circulating renin level, Cholecystitis, Increa... |
ORPHA:90041 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Decreased circulating total IgM, Hypert... |
OMIM:182410 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, Hy... |
ORPHA:340 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... |
OMIM:618944 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... |
OMIM:611926 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Renal insufficiency, Hy... |
ORPHA:650 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hypovolem... |
ORPHA:427 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... |
ORPHA:199343 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Recurrent tonsillitis, Hyper... |
ORPHA:171876 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Immunodeficiency 44 |
|
Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Ele... |
OMIM:616636 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Endocardial fibrosis, Absence of lymph... |
OMIM:235550 |
Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level |
OMIM:247800 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Hypotension, Arrhythmia, ... |
ORPHA:188 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Paradoxical increased cortisol secretion on ... |
ORPHA:189427 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... |
OMIM:212050 |
Glaucoma 3, Primary Congenital, A |
|
Buphthalmos, Late onset congenital glaucoma, Ocular hypertension |
OMIM:231300 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Cryptorchidism, Hypo... |
ORPHA:3282 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Decreased proportion of class-switched m... |
OMIM:619705 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Dysphagia |
OMIM:610247 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... |
ORPHA:231625 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Abnormal mitral valve morphology, Cryptorchidism, Arterial stenosis, Cerebral artery... |
ORPHA:1192 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Central hypothyroidis... |
ORPHA:514 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Increased circulating interleukin 6 concentration, Elevated circulatin... |
ORPHA:90051 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Flat cornea, Ocular hypertension, Microcornea, Shallow anterior chamber, Chorioretinal coloboma, ... |
OMIM:602499 |
Oligomeganephronia |
|
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Congenit... |
ORPHA:2260 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypertension, Hyperaldosteronism, Increased circulating r... |
OMIM:612780 |
Gitelman Syndrome |
|
Prolonged QT interval, Polyuria, Renal magnesium wasting, Hypomagnesemia, Rhabdomyolysis, Ventric... |
OMIM:263800 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Hepatocellular c... |
OMIM:232200 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... |
ORPHA:860 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Episodic hyperhidrosis, Hyperinsulinemia, Decreased circulating free f... |
ORPHA:276575 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Glaucoma 1, Open Angle, F |
|
Ocular hypertension |
OMIM:603383 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car... |
OMIM:232220 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hyperglycorrh... |
ORPHA:90065 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Type II... |
ORPHA:225 |
Preeclampsia |
|
Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El... |
ORPHA:275555 |
Lujo Hemorrhagic Fever |
|
Shock, Lymphopenia, Renal insufficiency, Elevated hepatic transaminase, Elevated circulating C-re... |
ORPHA:319213 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left atrial enlargement, Sudden cardiac death, Left ventricular hypertrophy, Restrictive cardiomy... |
OMIM:115210 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Hypertensio... |
OMIM:121300 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... |
OMIM:615513 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Congestive heart ... |
ORPHA:206546 |
Lassa Fever |
|
Shock, Increased circulating IgM level, Jaundice, Oliguria |
ORPHA:99824 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... |
ORPHA:98813 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Syncope, ... |
ORPHA:276580 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Cardiom... |
OMIM:255100 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati... |
ORPHA:168558 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Ocular hypertension, Anisocoria, Pos... |
ORPHA:263479 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hypothyroidism, Hepatic steatosis, Hemolytic anemi... |
OMIM:619487 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Diabetes mellitus, Decreased muscle glycogen cont... |
ORPHA:263297 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate... |
OMIM:619386 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... |
ORPHA:231580 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... |
ORPHA:358 |
Immunodeficiency 95 |
|
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... |
OMIM:614699 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Episodic hyperhidrosis, Decreased circulating free fatty acid level, S... |
ORPHA:276556 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Anuria, Hypertensive crisis, In... |
ORPHA:544482 |
Glycogen Storage Disease 0, Muscle |
|
Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu... |
OMIM:611556 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... |
OMIM:301500 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology |
DECIPHER:39 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Right ventricular failure, Decreased prealbumin level, Reduced ... |
ORPHA:90363 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Congestive heart failure, Hypovolem... |
ORPHA:31824 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Cln3 Disease |
|
Vacuolated lymphocytes, Increased circulating androgen concentration, T-wave inversion, Bradycard... |
ORPHA:228346 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Micropenis, De... |
ORPHA:90793 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Epistaxis, Conges... |
ORPHA:727 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Left ventricular systolic dysfunction, Facial palsy, Elevated circulating creatine kinase concent... |
OMIM:613156 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Ocular hypertension, Spherophakia, Anterior synechiae of ... |
OMIM:601552 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Polyuria, Hypercalcemia,... |
OMIM:601678 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrh... |
ORPHA:449285 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation |
ORPHA:3214 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elev... |
OMIM:613327 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Myocardial infarction, Hypertension, Hypercholesterolemia, Premature coronary ... |
OMIM:608320 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... |
OMIM:241200 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... |
OMIM:619281 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Hypertension, Proteinuria, Thrombocytopenia |
OMIM:189800 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... |
OMIM:615559 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension, Hyperaldosteronism |
OMIM:617027 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Hypertension,... |
ORPHA:231632 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci... |
OMIM:620282 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatic steatosis, Hepatomegaly... |
OMIM:614921 |
Cernunnos-Xlf Deficiency |
|
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... |
ORPHA:169079 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level |
OMIM:620126 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... |
OMIM:241150 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612926 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... |
OMIM:610947 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase... |
OMIM:617713 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Hypertension, Polycystic kidn... |
OMIM:618061 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Elevated circulating creatinine concentration, Hypertension, Abnormal renal ... |
OMIM:616733 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature... |
ORPHA:90795 |
Uveal Melanoma |
|
Iris melanoma, Ocular hypertension, Inferior lens subluxation, Zonular cataract, Ciliary body mel... |
ORPHA:39044 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Maturity-onset diabetes of the young, Maternal diabetes, Episodic hype... |
ORPHA:324575 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, L... |
ORPHA:86812 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:616974 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, X... |
ORPHA:220393 |
Myofibrillar Myopathy 10 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont... |
OMIM:619040 |
Familial Cervical Artery Dissection |
|
Diabetes mellitus, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Carotid arte... |
ORPHA:36382 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f... |
ORPHA:73224 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea... |
ORPHA:3261 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Diffuse mesangial sclerosis, Absent specific antibody response, Sever... |
OMIM:102700 |
Liddle Syndrome 1 |
|
Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... |
OMIM:177200 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Ventriculomegaly, Neutropenia |
ORPHA:2643 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Glycogen accumulation ... |
ORPHA:368 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Proteinuria, E... |
OMIM:614034 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Ocular hypertension, Posterior synechiae of the anterior ... |
ORPHA:280921 |
Immunodeficiency 61 |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... |
OMIM:300310 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left ventricular hypertrophy, Left atrial... |
OMIM:300280 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Orthostatic Hypotension 2 |
|
Anemia, Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Ocular hypertension, Keratitis, Abnormal pupil morphology, Abnormal c... |
ORPHA:209959 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Lymphopenia, Peritoneal effusion, Pericardial effusion, Decreased circulating an... |
ORPHA:90362 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Chronic pa... |
OMIM:232240 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Leukopenia, Hypoalbuminemia, Atrial septal defect, Decreased circulating IgG... |
ORPHA:505248 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Decreased circulating complement factor H concentration, Decreased circu... |
OMIM:235400 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimm... |
ORPHA:331206 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... |
OMIM:300539 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Myocardial infarction, Mesangial hypercellularity, Parap... |
ORPHA:91139 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... |
ORPHA:731 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu... |
OMIM:619355 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria, Hypertension |
ORPHA:2820 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... |
ORPHA:85445 |
Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... |
OMIM:612201 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Relapsing Fever |
|
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-react... |
ORPHA:91547 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Porphyria Variegata |
|
Hyponatremia, Proximal muscle weakness in upper limbs, Neurogenic bladder, Tachycardia, Elevated ... |
ORPHA:79473 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... |
OMIM:308240 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ... |
ORPHA:99827 |
Schimke Immunoosseous Dysplasia |
|
Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Abnorma... |
OMIM:242900 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Increased circulating interleukin 6 concentration, He... |
ORPHA:542323 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Hepatic fibrosis, Atrial septal defect, Decreased circulating IgG level... |
OMIM:620005 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... |
OMIM:226990 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Adrenal insufficiency, Pulmonic stenosis, Tetralogy of Fallot, Hydrone... |
ORPHA:251076 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM, Telangiectases of the cheeks |
OMIM:615139 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... |
OMIM:614700 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Anuria, Elevated circulating creatine kinase c... |
ORPHA:99829 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Stroke, S... |
ORPHA:90064 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Anhidrosis, Sinus tachycardia, Elevated circulating creatine kinase concen... |
ORPHA:466650 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g... |
ORPHA:1830 |
Variegate Porphyria |
|
Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Tachycardia, Porph... |
OMIM:176200 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Impaired T cell function, Elevated circulating creatine kinase concentration, Elevated gamma-glut... |
OMIM:614576 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic aciduria, Card... |
OMIM:212138 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602087 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... |
OMIM:278000 |
Potocki-Shaffer Syndrome |
|
Nephroblastoma, Hypertension, Delayed puberty, Micropenis, Hypothyroidism, Anemia |
ORPHA:52022 |
Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hepatosplenomegal... |
ORPHA:79330 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Birdshot Chorioretinopathy |
|
Cataract, Abnormal chorioretinal morphology, Choroidal neovascularization, Ocular hypertension, A... |
ORPHA:179 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Elbow contracture, Hydrocephalus, Patent ductus art... |
OMIM:618162 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis, Elevated circulating alkaline phosphatase concentration, Left ventricular hyper... |
OMIM:616833 |
Immunodeficiency, Common Variable, 10 |
|
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Decreased c... |
OMIM:615577 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Hydrocephalus, Thrombocytopenia |
OMIM:166990 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
Overlap Myositis |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Abnormal circulating lipi... |
ORPHA:206572 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Glomerulop... |
ORPHA:324 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Decreased muscle mass, Elevated circulating creatine kinase concentration, Elevated circulating a... |
OMIM:607091 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:218030 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Knee... |
ORPHA:3208 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Abnormal circulating fatty... |
ORPHA:263455 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis... |
OMIM:214700 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Lymphopenia, Skeletal muscle atrophy, Diabetes mellitus, Telangiec... |
ORPHA:100 |
Hereditary Coproporphyria |
|
Dark urine, Proximal muscle weakness in upper limbs, Tachycardia, Hyponatremia, Abnormal circulat... |
ORPHA:79273 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... |
ORPHA:280356 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, T lymphocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decre... |
OMIM:619510 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... |
OMIM:168000 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Leprechaunism |
|
Skeletal muscle atrophy, Enlarged ovaries, Hepatomegaly, Long penis, Hyperinsulinemia, Hypercalci... |
ORPHA:508 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Patent ductus arteri... |
ORPHA:369837 |
Tularemia |
|
Brain abscess, Tachycardia, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal... |
ORPHA:3392 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic... |
ORPHA:276608 |
Idiopathic Uveal Effusion Syndrome |
|
Abnormal anterior eye segment morphology, Abnormal intraocular pressure |
ORPHA:209956 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Long penis, Adrenogenita... |
OMIM:202010 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Ocular hypertension, Chorioretinal atrophy, Developmental cataract, Micro... |
OMIM:612109 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... |
OMIM:603909 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia |
OMIM:618681 |
Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Atrial septal defect, Left ventricular hypertrophy,... |
OMIM:242840 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... |
OMIM:615418 |
Congenital Microcoria |
|
Ocular hypertension, Developmental cataract, Corneal stromal edema, Iris transillumination defect... |
ORPHA:566 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... |
OMIM:602086 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Eleva... |
ORPHA:90038 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy, Increased CSF la... |
OMIM:614458 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Splenomegaly, Ventricular septal defect, Eosinophilia |
OMIM:616651 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Increased circulating IgE level, Incr... |
OMIM:243700 |
Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyp... |
ORPHA:94093 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... |
ORPHA:2041 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Ventriculomegaly, Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic sy... |
ORPHA:488627 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hypertension, Hepatic stea... |
ORPHA:79084 |
Pparg-Related Familial Partial Lipodystrophy |
|
Maternal diabetes, Prominent veins on trunk, Hepatic steatosis, Hepatomegaly, Calf muscle pseudoh... |
ORPHA:79083 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasi... |
ORPHA:746 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral hepatitis, Cor pulmonal... |
OMIM:300755 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... |
ORPHA:84090 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... |
OMIM:605373 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle... |
ORPHA:254892 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalus, Muscular dys... |
OMIM:613153 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Multicystic kidney dysplasia, Increased proportion of gamma-delta T ... |
OMIM:619774 |
Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Hyperhidrosis, Increased circulating insulin-l... |
ORPHA:99725 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial... |
ORPHA:3287 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Dilation of Virchow-Robin spaces, Transient ischemic attack, Lacunar stroke, Hypertension, Stroke |
OMIM:616779 |
Liddle Syndrome 2 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... |
OMIM:618126 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Recurrent urinary tract infections, Autoimmune thro... |
ORPHA:331235 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Patent ductus art... |
OMIM:601005 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... |
OMIM:614492 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thro... |
OMIM:613496 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension |
OMIM:201910 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... |
OMIM:619313 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... |
OMIM:203800 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Hepatic steatosis, Diabetes mellitus, Elevated circulating creatine kina... |
OMIM:615980 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... |
ORPHA:139507 |
Immunodeficiency 43 |
|
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... |
OMIM:241600 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ventriculomegaly |
OMIM:618228 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Facial hypotonia, Elevated c... |
ORPHA:308552 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly... |
OMIM:616100 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... |
OMIM:615688 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Thrombocytopenia, Capillary leak, Decreased circulating total IgM, Decreas... |
OMIM:615758 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Acute rhabdomyolysis, Premature thelarche, Cardiac arre... |
OMIM:616878 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Hyperuricemia, Arr... |
ORPHA:3222 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Left ventricular hyp... |
ORPHA:335 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171420 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... |
OMIM:613870 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess, Pulmonic stenosis, Atrial septal defect, Sterile abscess |
OMIM:618282 |
Alkaptonuria |
|
Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Elevated u... |
OMIM:203500 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Hypertension... |
OMIM:105200 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test |
OMIM:262700 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hypoproteinemia, Ventricular... |
ORPHA:26793 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart ... |
ORPHA:3426 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle... |
OMIM:614654 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Gastrointestinal hemorrhage, Proteinuria, Weakness of facial musculature, Rayn... |
ORPHA:247691 |
Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Anemia, Hepatosplenomegaly |
OMIM:607115 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Anorexia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lymphop... |
ORPHA:169160 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM... |
OMIM:619752 |
Immunodeficiency 7 |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia |
OMIM:615387 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Thrombo... |
OMIM:613845 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Stroke, Bacterial endocar... |
ORPHA:1054 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Hyperlysinemia, Type I |
|
Hyperactivity, Anemia |
OMIM:238700 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Mesangial hypercellu... |
OMIM:617575 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Decreased lymphocyte proliferation in response to anti-CD3, U... |
ORPHA:221139 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leu... |
OMIM:618886 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... |
OMIM:611705 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr... |
ORPHA:100024 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Decreased circu... |
OMIM:613101 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... |
OMIM:613095 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp... |
OMIM:301045 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus, Trapezius muscle aplasia |
OMIM:600257 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity, T lymp... |
ORPHA:277 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:18 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... |
OMIM:613239 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
1Q21.1 Microduplication Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Arthrogryposis multiplex congenita, Tetralogy of Fallot |
ORPHA:250994 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Cryptorchidism, Elevated circ... |
OMIM:618183 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure... |
OMIM:269920 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia, Dysphagia |
ORPHA:2070 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Decreased circulating total IgM, Hypocalce... |
OMIM:607143 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Calf muscle pseudohypertroph... |
ORPHA:79086 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... |
ORPHA:534 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemi... |
ORPHA:97289 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased... |
OMIM:616005 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal cerebral vascular morphology, Raynaud phenomenon, Abnormal platelet aggregation, Hyperte... |
ORPHA:401945 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosplenomegaly, Dec... |
OMIM:619750 |
Lambert Syndrome |
|
Ventricular septal defect, Hypospadias, Jaundice, Cholestasis, Decreased circulating antibody lev... |
ORPHA:1296 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertens... |
OMIM:219080 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Rhabdomyolysis, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy... |
OMIM:145600 |
Stiff-Person Syndrome |
|
Tachycardia, Diabetes mellitus, Hyperhidrosis, Anemia, Proximal limb muscle stiffness, Hypertensi... |
OMIM:184850 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated he... |
OMIM:617253 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Ragged-red muscle fibers, Primary ad... |
OMIM:530000 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Ventricul... |
OMIM:220210 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... |
OMIM:171400 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Abnormal lymphocyte ... |
ORPHA:300751 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Decreased circulating antibody level, Hypocystinemia, Decreased serum crea... |
OMIM:617744 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... |
OMIM:613237 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, ... |
ORPHA:525731 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Hyperhidrosis, Upper... |
ORPHA:892 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension |
OMIM:607832 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia |
OMIM:601457 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ... |
ORPHA:45452 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal... |
OMIM:275350 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Elevated circula... |
ORPHA:97287 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc... |
ORPHA:99826 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Prominent superficial veins, Insulin-resi... |
OMIM:608600 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Skeletal muscle hypertrophy, Hypertens... |
OMIM:613877 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated ... |
OMIM:619167 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri... |
ORPHA:94080 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Increased circulating IgE level, Coarctation of aorta |
OMIM:616069 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive he... |
ORPHA:49827 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroid... |
OMIM:603373 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... |
ORPHA:361 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Renal insufficiency, Cervical lymphadenopathy, Vasculitis, Lymphad... |
ORPHA:83313 |
Acute Intermittent Porphyria |
|
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Tachycardia, Hyponatrem... |
ORPHA:79276 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... |
OMIM:614473 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal internal carotid arter... |
ORPHA:365 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... |
OMIM:610205 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, A... |
ORPHA:136 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Chronic kidney disease, Imbalanced hemoglobin synthesis,... |
ORPHA:330015 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T... |
ORPHA:228308 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Red-brown urine, Tubulointerstitial nephritis... |
ORPHA:157 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:161950 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
ORPHA:280679 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Nephronophthisis 18 |
|
Hydrocephalus, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasi... |
OMIM:615862 |
Mucopolysaccharidosis-Plus Syndrome |
|
Flexion contracture, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis, Neutropenia, ... |
OMIM:617303 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, I... |
ORPHA:347 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Hyperhidrosis, Prominent U wa... |
ORPHA:466677 |
Juvenile Glaucoma |
|
Abnormal anterior chamber morphology, Abnormality iris morphology, Ocular hypertension |
ORPHA:98977 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:615184 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Abnormal ... |
OMIM:619652 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating Ig... |
ORPHA:508533 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension... |
ORPHA:3156 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Renal insufficiency, Recurrent urinary tract infections, Myositis, Glomerulonephritis, Abs... |
ORPHA:36234 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Nep... |
OMIM:301000 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Recurrent urinary tract infections, Diabetes mellitus, Liver abscess, Cholangiti... |
ORPHA:183675 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... |
OMIM:615954 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Hyperhidrosis, Displacement of... |
ORPHA:1329 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hydrocephalus, Elevated circulating c... |
OMIM:619111 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Adrenal overactivity, Leio... |
ORPHA:139411 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level,... |
ORPHA:293978 |
Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Partial absence of spe... |
OMIM:618261 |
Ring Chromosome 21 Syndrome |
|
Abnormal heart morphology, Diabetes insipidus, Holoprosencephaly, Decreased circulating antibody ... |
ORPHA:1445 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... |
OMIM:611489 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Hydrocephalus, Flexion contract... |
OMIM:613155 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Abnormality of th... |
ORPHA:85443 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf... |
ORPHA:125 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral regurgitation, Pulmon... |
OMIM:615355 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo... |
ORPHA:173 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Exercise-induced rhabdomyolysis, Elevated creatine kinase after exercise, ... |
ORPHA:423 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... |
OMIM:304790 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Flexion contracture, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolemia, Decrease... |
OMIM:212065 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased circulating IgG level,... |
OMIM:209950 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Facial palsy... |
ORPHA:31826 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tachycardia, Hypergonadotropic hypogonadism, Lower limb muscle weakness |
OMIM:619737 |
Alg12-Cdg |
|
Hypoalbuminemia, Hypocholesterolemia, Micropenis, Patent foramen ovale, Hyponatremia, Hypospadias... |
ORPHA:79324 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Hepatomegaly, Pancytopenia, Type I diabetes mellitus, Panhypogammaglobulinemia, Ventriculomegaly |
ORPHA:251009 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Hepatic steatosis, Per... |
OMIM:615846 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171300 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula... |
OMIM:618048 |
Irvan Syndrome |
|
Ocular hypertension |
ORPHA:209943 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Nephropathy, Hypertension, Arterial stenosis |
ORPHA:820 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Hyperkalemia, Stage 5 ... |
OMIM:602088 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Adrenal insufficiency |
OMIM:619025 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia, Hepatomegaly |
OMIM:269840 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease... |
OMIM:166300 |
Late-Onset Retinal Degeneration |
|
Iris atrophy, Choroidal neovascularization, Ocular hypertension, Abnormal anterior eye segment mo... |
ORPHA:67042 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Lymphadenopathy, Hematuria, Anemia, Hypertension, Neoplasm of the ... |
ORPHA:69077 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal circulating enzyme concentration or activity, Abnormal heart morphology, Tachycardia, Hy... |
ORPHA:79264 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia, Myopathy, Hypertension, Cirrhosis, Hepatic ... |
ORPHA:363400 |
Liddle Syndrome |
|
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia |
ORPHA:526 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... |
OMIM:600884 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Bacterial endocarditis, Abnormal circulati... |
ORPHA:48435 |
Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Abn... |
ORPHA:485405 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting |
OMIM:201710 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Glutaric aciduria, Hypertension, Reduced peroxisomal glutaryl-CoA oxidase activi... |
OMIM:231690 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:609152 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Flexion contracture, Hypogonadism, Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine ... |
ORPHA:3299 |
Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Upper limb muscle weakness, Hypertension,... |
ORPHA:494424 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic... |
OMIM:615238 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... |
OMIM:301068 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy |
OMIM:620145 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Permanent atrial fibrillation, Inflam... |
ORPHA:31825 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ... |
ORPHA:33355 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ... |
ORPHA:90037 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... |
OMIM:618986 |
Methylcobalamin Deficiency Type Cble |
|
Glomerulopathy, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Hemolytic-uremic syndrome, Hy... |
ORPHA:2169 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circulating IgM ... |
ORPHA:37748 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrom... |
OMIM:215250 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Intermediate Uveitis |
|
Anterior uveitis, Posterior synechiae of the anterior chamber, Cataract, Band keratopathy |
ORPHA:279914 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Hepatomegaly, Elevated hepatic transaminase, Unilateral r... |
OMIM:216360 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hepatomegaly, Pulmonary embolism, Decreased circulating antibody level, Iron def... |
OMIM:226300 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Elevated he... |
ORPHA:398124 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Ad... |
OMIM:617053 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s... |
OMIM:614878 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Mater... |
OMIM:604367 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Thrombocytopenia, Gi... |
OMIM:611209 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... |
OMIM:615830 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... |
OMIM:301080 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic micr... |
OMIM:616084 |
Sickle Cell Disease |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... |
OMIM:603903 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Bloom Syndrome |
|
Hepatic steatosis, Elevated hemoglobin A1c, Cryptorchidism, Decreased circulating total IgM, Type... |
OMIM:210900 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Decreased circulating parathyroid hormone level, Hypercalcemia, Nephrolithiasis, Hyperc... |
OMIM:143880 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, De... |
ORPHA:99811 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Abnormal cerebral vascular morphology, Primary adrenal i... |
ORPHA:3453 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Hydrocephalus, Abnormal localization of kidney, Mitral regurgitation, ... |
ORPHA:83473 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia |
ORPHA:100025 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly elevated creatine kinase, Mil... |
ORPHA:66529 |
Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... |
ORPHA:75565 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Patent foramen ovale, Attention deficit hyperactivity disorder |
OMIM:617182 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level, Functional abnormality of the bladder, Myopathy |
ORPHA:2571 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr... |
ORPHA:276621 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Increased circulating IgG4 level, Elevated circulating C-reactive prote... |
ORPHA:449400 |
Sympathetic Ophthalmia |
|
Cataract, Ocular hypertension, Anterior chamber cells, Posterior synechiae of the anterior chambe... |
ORPHA:79098 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva... |
OMIM:618620 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
ORPHA:2807 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Decreased circulating total IgM, Lateral ventricle dil... |
OMIM:612301 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Aplasia of the left hemidiaphragm, Adrenal insufficiency, Increased CSF lactate |
OMIM:618238 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, P... |
ORPHA:29072 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Facial palsy, Hypertension, Hypogonadism, Limb muscle weakness, Diabetes... |
ORPHA:97229 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Cardiomegaly, Hydrocephalus, Jaund... |
ORPHA:858 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... |
ORPHA:97214 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Ovarian cyst, Increased ... |
ORPHA:562 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno... |
ORPHA:79644 |
Polyarteritis Nodosa |
|
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R... |
ORPHA:767 |
Serotonin Syndrome |
|
Tachycardia, Rhabdomyolysis, Hyperhidrosis, Hypertension, Hypotension, Hepatic failure, Acute kid... |
ORPHA:43116 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Functional abnormality of the bladder, T lymphocytopenia,... |
ORPHA:391487 |
Griscelli Syndrome |
|
Encephalocele, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Hydrocephalus, Jaundice, H... |
ORPHA:381 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Bilateral cryptorchidism, Secundum atrial se... |
ORPHA:1600 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
X-Linked Adrenoleukodystrophy |
|
Neurogenic bladder, Increased circulating ACTH level, Adrenal insufficiency, Leg muscle stiffness... |
ORPHA:43 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepa... |
ORPHA:84064 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Pure Autonomic Failure |
|
Anhidrosis, Orthostatic hypotension, Dysuria, Urinary incontinence, Abnormality of circulating ca... |
ORPHA:441 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Eosinophilia, Abnormal pericardium mo... |
ORPHA:183 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Decreased response to growth hormone stim... |
ORPHA:1855 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein ... |
ORPHA:420741 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ... |
ORPHA:90033 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Elevated urinary cate... |
OMIM:115310 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Colp... |
OMIM:618619 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension |
OMIM:267430 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fib... |
ORPHA:1349 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Precocious atherosclerosis, Mi... |
ORPHA:275761 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Renal hypoplasia/aplasia, Cr... |
ORPHA:52 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Thickened aortic valve cusp, Nephrolithiasis, Dermatan sulfate excretion in... |
OMIM:619698 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... |
OMIM:602450 |
Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephr... |
ORPHA:110 |
B4Galt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79332 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Immunodeficiency 87 And Autoimmunity |
|
Abnormal lymphocyte proliferation, Elevated circulating C-reactive protein concentration, Elevate... |
OMIM:619573 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... |
ORPHA:49041 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes ins... |
OMIM:209900 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy, Nonketotic hyperglycinemia |
ORPHA:401866 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
Livedoid Vasculopathy |
|
Pancytopenia, Diabetes mellitus, Telangiectasia of the skin, Abnormal capillary morphology, Venou... |
ORPHA:542643 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Decreased muscle mass, Renal agenesis, Maternal diabet... |
ORPHA:3027 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Ventriculomegaly, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Developmental And Epileptic Encephalopathy 36 |
|
Hepatomegaly, Hydrocephalus, Flexion contracture |
OMIM:300884 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper... |
OMIM:239200 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Agammaglobulinemia, Cryptorchidism, Hypospadias, Decreased circulating antibody level |
OMIM:616910 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A... |
ORPHA:300298 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Precocious atherosclerosis,... |
ORPHA:280365 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphade... |
ORPHA:397596 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... |
OMIM:240500 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... |
OMIM:619381 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Hydroc... |
ORPHA:1926 |
Stiff Skin Syndrome |
|
Nephrolithiasis, Abnormal circulating lipid concentration, Hypertension, Type II diabetes mellitus |
ORPHA:2833 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Nelson Syndrome |
|
Increased urinary cortisol level, Lower limb muscle weakness, Testicular neoplasm, Pituitary cort... |
ORPHA:199244 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Anemi... |
OMIM:617780 |
3C Syndrome |
|
Hypoplasia of penis, Ventriculomegaly, Hypospadias, Ventricular septal defect, Adrenal hypoplasia... |
ORPHA:7 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Reduced le... |
ORPHA:79329 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia |
ORPHA:2902 |
Alport Syndrome |
|
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi... |
ORPHA:63 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... |
OMIM:301050 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Eosinophilia, Lymphocytosis |
ORPHA:139402 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Hypertension, Mitral regurgi... |
OMIM:173900 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level |
OMIM:193670 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... |
ORPHA:2137 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Increased urinary glycerol, Abnormal ci... |
ORPHA:348 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... |
ORPHA:980 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Chronic kidney disease, Central retinal vessel vascular tortuosity, Calcif... |
OMIM:208060 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Micropenis, Decreased circulating renin level, Hyponatremia... |
OMIM:201750 |
Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,... |
ORPHA:75233 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration |
OMIM:266100 |
Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrocalcinosis, Aminoaciduria, Elevated ga... |
OMIM:208085 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood... |
ORPHA:251004 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Pulmonary insufficiency, Tricuspid regurgitation, Abnormal heart valve morp... |
ORPHA:230851 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Micropenis, Ovarian serous cystadeno... |
ORPHA:1772 |
Cystic Echinococcosis |
|
Eosinophilia, Abscess, Abnormal heart morphology, Splenic cyst, Peritoneal abscess |
ORPHA:400 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Pure red cell a... |
ORPHA:99867 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
Coccidioidomycosis |
|
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Abnormality... |
ORPHA:228123 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism, Hypohidrosis |
ORPHA:181 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal hypoproteinemia |
OMIM:152800 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic... |
OMIM:609981 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Diencephalic Syndrome |
|
Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Long penis, Hyperhidrosis |
ORPHA:1672 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Facial hypotonia, Hyperkalemia, Renal hypopl... |
OMIM:617595 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Hypospadias, Cryptorchidism, Penoscrotal transposition, Patent ductus arteriosus, ... |
OMIM:619148 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Genera... |
ORPHA:171 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Proteinuria, Ventricular septa... |
OMIM:613404 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Hydrocephalus, Abn... |
ORPHA:1666 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... |
OMIM:618280 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Agra... |
OMIM:301078 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Myositis, Dupuytren contracture, Tachycar... |
ORPHA:39812 |
Leukodystrophy, Hypomyelinating, 24 |
|
Flexion contracture, B lymphocytopenia, Hypothyroidism, Ventriculomegaly |
OMIM:619851 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr... |
ORPHA:251992 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... |
ORPHA:363618 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... |
OMIM:618913 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Hyperhidrosis, Cardiomyopathy, Paroxysmal ventric... |
ORPHA:34217 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Arth... |
OMIM:232500 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... |
ORPHA:77296 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98855 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Orthostatic hypotension, Tachycardia, Abnormal... |
ORPHA:1764 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Atri... |
ORPHA:371428 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Hypothyroidism, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, D... |
ORPHA:79259 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... |
ORPHA:572 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Cholelithiasis, Decreased circ... |
OMIM:240300 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Chronic kidney disease, Cho... |
OMIM:615630 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... |
OMIM:108770 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia |
OMIM:617388 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Pate... |
OMIM:613610 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Abnormal left vent... |
ORPHA:36913 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy, Ventriculomegaly |
OMIM:618321 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i... |
ORPHA:227990 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu... |
OMIM:243150 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Increased total bilirubin |
ORPHA:90036 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car... |
OMIM:208000 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro... |
ORPHA:227982 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level, Functional abnormality of the bladder |
OMIM:300076 |
Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... |
ORPHA:95717 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Hematuria, Varicose vein... |
ORPHA:71273 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Gaucher Disease |
|
Elevated circulating C-reactive protein concentration, Cherry red spot of the macula, Hepatomegal... |
ORPHA:355 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus, Neonatal hyperbilirubinemia, Jaundice |
OMIM:129850 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Mercury Poisoning |
|
Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury |
ORPHA:330021 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Hypercholesterolemia, Cholangiti... |
ORPHA:69663 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Subependymal nodules, Carcinoid tumor, ... |
ORPHA:805 |
Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98853 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level,... |
ORPHA:264675 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydroc... |
OMIM:610333 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
Glycogen Storage Disease Xv |
|
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... |
OMIM:613507 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Leber Hereditary Optic Neuropathy |
|
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia |
ORPHA:104 |
Granulomatosis With Polyangiitis |
|
Elevated circulating C-reactive protein concentration, Granulomatosis, Abnormality of the hypotha... |
ORPHA:900 |
Distal Deletion 13Q |
|
Encephalocele, Renal hypoplasia/aplasia, Primary adrenal insufficiency, Anencephaly, Abnormal car... |
ORPHA:1590 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Hydrocephalus, Leukemia, Nephroblastoma, Ventriculomegaly |
OMIM:602501 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, Increased circ... |
ORPHA:276 |
Porphyria, Acute Intermittent |
|
Tachycardia, Dysuria, Urinary incontinence, Hypertension, Urinary retention, Hepatocellular carci... |
OMIM:176000 |
Poems Syndrome |
|
Diabetes mellitus, Polycythemia, Abnormality of the endocrine system, Pericardial effusion, Prima... |
ORPHA:2905 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Attention deficit hyperactivi... |
OMIM:620141 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Episodic hyperhidrosis, Elevated circulating creatinine con... |
OMIM:223900 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia |
OMIM:615816 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Multiple Endocrine Neoplasia Type 2 |
|
Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary... |
ORPHA:653 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... |
OMIM:123550 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... |
OMIM:609637 |
Tangier Disease |
|
Accelerated atherosclerosis, Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectio... |
ORPHA:31150 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Hypogonadism, Delayed puberty |
ORPHA:141333 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... |
OMIM:615767 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... |
ORPHA:98863 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Hydrocephalus, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Reduced liver 2,4-dienoyl-CoA... |
OMIM:616034 |
Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Increased mean platelet volume, Abn... |
OMIM:222470 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
Sarcoidosis |
|
Abnormal cerebrospinal fluid morphology, Heart block, Increased T cell count, Ventricular tachyca... |
ORPHA:797 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Myositis, Pericarditis, Hepatomegaly, Myocardial infar... |
ORPHA:3452 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Camptoda... |
OMIM:613385 |
Immunodeficiency 46 |
|
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Thoracic aortic aneurysm, Peritonitis, Patent ductus arteriosus, Megacystis, Pyelonephrit... |
OMIM:619351 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Decreased circulating antibody level |
ORPHA:1116 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Werner Syndrome |
|
Renal neoplasm, Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Abnor... |
ORPHA:902 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Cryptorchid... |
ORPHA:1166 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Abnormality of the... |
ORPHA:186 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er... |
ORPHA:447 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Increased ci... |
OMIM:201810 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ... |
ORPHA:91355 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy... |
ORPHA:272 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St... |
ORPHA:567546 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Mi... |
ORPHA:2183 |
Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Abnormal muscle fiber morphology, Cryptorchidism, Hydrocephalus, Abnormal heart morp... |
OMIM:175700 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Tachycardia, Abnormal circulating tryptophan concentration, Hypotension |
ORPHA:79155 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia |
OMIM:619302 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79443 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero... |
ORPHA:71275 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased testicular size, Anem... |
OMIM:620040 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition of the great ar... |
OMIM:306955 |
Noonan Syndrome 10 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valve prolapse, Coarc... |
OMIM:616564 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Biemond Syndrome Ii |
|
Abnormality of the endocrine system, Hydrocephalus |
OMIM:210350 |
Mirizzi Syndrome |
|
Dark urine, Elevated hepatic transaminase, Tachycardia, Pancreatitis, Jaundice, Elevated circulat... |
ORPHA:521219 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Pituitary adenoma, Nephrolithiasis, Increased circulating ACTH level, Hy... |
OMIM:219090 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Tachycardia, Megaloblastic anemia,... |
ORPHA:35858 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia, Moyamoya phenomenon |
OMIM:615750 |
Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Renal cyst, Intracranial he... |
OMIM:614424 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent urinary tract infections, Diabetes mellitus, Thrombocyto... |
ORPHA:169105 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Splenomegaly, Lymp... |
OMIM:618495 |
Facial Spasm |
|
Anisocoria |
OMIM:134300 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Ventricu... |
OMIM:611812 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulating antibody level, ... |
OMIM:615122 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Renal agenesis, Ventricular septal defect, Adrenal hypoplasia, Dextrocardia, Crypt... |
OMIM:264480 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Leukopenia, Increased circulating IgG level, Hypoalbuminemia, Abnormal ... |
ORPHA:2298 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
Denys-Drash Syndrome |
|
Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma |
ORPHA:220 |
Wagro Syndrome |
|
Aniridia, Cataract, Corneal opacity, Ocular hypertension |
OMIM:612469 |
Emanuel Syndrome |
|
Recurrent urinary tract infections, Torticollis, Truncus arteriosus, Ventricular septal defect, U... |
OMIM:609029 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Contracture of the d... |
ORPHA:83617 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Hepatomegaly, ... |
OMIM:151660 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, B lymphocytopenia, Neut... |
OMIM:601495 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, Hypertension, Aortic root aneurysm, Hy... |
ORPHA:449291 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Hydrocephalus, Elevated circulating long chain fatty acid concentr... |
OMIM:614886 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Hydrocephalus, Cardiomegaly |
OMIM:300886 |
H Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Abnormality of the kidney, Microcytic anemia, Hydrocepha... |
ORPHA:168569 |
Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Aplastic anemia, Renal agenesis, Hypergonadotropic hypogonadism, Ventricular se... |
OMIM:300514 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Frontal... |
ORPHA:261102 |
Mucoepithelial Dysplasia, Hereditary |
|
Cor pulmonale, Eosinophilia |
OMIM:158310 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Decreased circulating antibody level |
ORPHA:85317 |
Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ... |
ORPHA:95513 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... |
OMIM:261740 |
Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Primary a... |
ORPHA:589 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ... |
ORPHA:95512 |
Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Ectopic kidne... |
ORPHA:96149 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... |
ORPHA:913 |
Triple A Syndrome |
|
Abnormality of the calf musculature, Anterior hypopituitarism, Adrenal insufficiency, Abnormality... |
ORPHA:869 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Coarctation of aorta, N... |
OMIM:617729 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Late... |
OMIM:300952 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Dex... |
OMIM:620305 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Dextrocardia, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Hypog... |
OMIM:615994 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy,... |
ORPHA:370959 |
Vici Syndrome |
|
Decreased circulating IgG2 level, Ureteral atresia, Renal tubular acidosis, Cardiomyopathy, Decre... |
ORPHA:1493 |
Williams-Beuren Region Duplication Syndrome |
|
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Cryptorchidism,... |
OMIM:609757 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... |
OMIM:617099 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Senior-Loken Syndrome 4 |
|
Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Pr... |
OMIM:619127 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Aque... |
OMIM:619534 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Diaphragmat... |
OMIM:619488 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Central Precocious Puberty In Male |
|
Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Abnormal response to gonad... |
ORPHA:649929 |
Emanuel Syndrome |
|
Ventriculomegaly, Multiple joint contractures, Truncus arteriosus, Ventricular septal defect, Uni... |
ORPHA:96170 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Hyperhidrosis, Leukopenia, ... |
ORPHA:1304 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,... |
OMIM:219800 |
Monosomy 18P |
|
Hypertension, Hypothyroidism, Holoprosencephaly |
ORPHA:1598 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Adrenal calcification, Cardiomegaly, Abnormal retinal art... |
ORPHA:51608 |
Fried Syndrome |
|
Skeletal muscle atrophy, Hydrocephalus |
ORPHA:85335 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension, Extra-axial cerebrospinal fluid accumulation, Hypothyroidism |
OMIM:617763 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Jaundice, Hyperkalemia, ... |
ORPHA:90790 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Occipital encephalocele, Multicystic kidney dysplasia, Renal insuf... |
ORPHA:1454 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Foot joint contrac... |
ORPHA:90321 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Abnormal atrioventricular valve physiology, Abnormal mitra... |
ORPHA:576 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Hydrocephalus, Elbow flexio... |
OMIM:245600 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Abnormal pericardium morphology, Abnormal spleen morphology, Anemia,... |
ORPHA:284 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Ectop... |
OMIM:227646 |
Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology |
ORPHA:2185 |
Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Abnormal aortic arch morphology, Hypoplasia of the thymus, Hypocalcemia... |
ORPHA:567 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Coronary arte... |
ORPHA:56 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Dilation of Virchow-Robin spaces, Penile freckling, Splenomegaly, Decreased circula... |
OMIM:605309 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Hurler Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Camptodactyly of finger, Angina pectoris, Abnormal... |
ORPHA:93473 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... |
OMIM:230800 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, ... |
OMIM:218350 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, O... |
ORPHA:199299 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Dilated cardiomyopathy,... |
ORPHA:3260 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Posterior synechiae of the anterior chamber, Developmental cataract |
OMIM:613154 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Dilatation of the cerebral artery, Decreased liver function, Polycystic kidney dysp... |
OMIM:600666 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Decreased iduronate sulfatase level, Abnormal heart valve morphology, Heparan sulfa... |
OMIM:309900 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Lymphopenia, Diabetes mellitus, Female hypogonadism, Elevated circul... |
OMIM:208900 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neoplasm of the ... |
ORPHA:97282 |
Arima Syndrome |
|
Dilated fourth ventricle, Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, He... |
OMIM:243910 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II... |
ORPHA:2047 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperp... |
ORPHA:96181 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Dilated fourth ventricle, Vascular dilatation, Patent ductus arteriosus, Hydrocephalus, Aortic va... |
OMIM:220220 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Hydrocephalus, Flexion contracture, Dilatation of the renal pelvis, Pa... |
ORPHA:314588 |
Temple Syndrome |
|
Hypertriglyceridemia, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, H... |
OMIM:616222 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skeletal muscle atrophy, Myositis, Elevated circulating C-reactive protein concentration, Increas... |
OMIM:615934 |
Tenorio Syndrome |
|
Raynaud phenomenon, Hydrocephalus, Macroglossia, Enuresis, Syncope, Hypoinsulinemia, Ventriculome... |
OMIM:616260 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Goiter, Elevated circulat... |
ORPHA:90673 |
Trisomy 17P |
|
Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, F... |
ORPHA:261290 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Hypoproteinemia |
OMIM:221400 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Left atrial enlargement, Decreased serum leptin, Flexion contracture... |
OMIM:614008 |
Melas |
|
Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Nephropathy, Abnormal mitochondria in m... |
ORPHA:550 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Elbow flexion contracture |
OMIM:619470 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S... |
OMIM:267010 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry... |
ORPHA:739 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Hypoalbuminemia, Holoprosencephaly, Hypocholesterolemia, Atrial septal defect, Microp... |
OMIM:270400 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Adrenal insufficiency, Adrenal hypoplasia |
OMIM:240200 |
Somatostatinoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97283 |
Xq28 (MECP2) duplication |
|
Functional abnormality of the bladder, Decreased circulating IgA level |
DECIPHER:45 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus, Holoprosenceph... |
ORPHA:93274 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Renal hypoplasi... |
OMIM:619758 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hyperhidrosis, H... |
OMIM:614653 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Hand muscle weakness, Quadriceps muscle weakness, Hydrocephalus, Fl... |
ORPHA:99947 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Megacystis, Myopathy, Abnormality of the urinary system, Hepatic s... |
ORPHA:977 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hyponatremia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoac... |
OMIM:617913 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Renal hypop... |
ORPHA:171839 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Abnormal corneal endothelium morphology, Posterior subcapsular cataract, Posterior synechiae of t... |
ORPHA:364055 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Hepatomegaly, Proximal tubulopathy, Polyuria |
OMIM:560000 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ... |
OMIM:618165 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... |
OMIM:613834 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadeno... |
ORPHA:100079 |
Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, ... |
ORPHA:1335 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Progressive flexion contractures, Hypertension, Transient hyperphenylalaninemia, Dec... |
ORPHA:98808 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Hydrocephalus, Micropenis, Anterior hypopituitarism, Renal dysplasia |
OMIM:241800 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... |
ORPHA:3400 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Decreased circulating antibo... |
OMIM:618042 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, Camptodactyly... |
OMIM:614846 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Vascular dilatation, Cardiomegaly |
OMIM:613320 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal circulating enzyme concentration or activity, Abnormal heart valve morphology, Abnormal ... |
ORPHA:217085 |
Nephroblastoma |
|
Lymphadenopathy, Hematuria, Hypertension, Neoplasm of the liver, Nephroblastoma |
ORPHA:654 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Bicuspid aortic valve, Hypospadias, Mitral atresia, Increased hepatocellular lipid dro... |
OMIM:220111 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... |
ORPHA:47 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... |
ORPHA:79126 |
Paroxysmal Hemicrania |
|
Hypertension, Diabetes mellitus |
ORPHA:157835 |
Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired myocardi... |
ORPHA:79102 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
Xp21 Deletion Syndrome |
|
Decreased muscle mass, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating ... |
ORPHA:261476 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Hepatomegaly, Abnormality of the kidney, Hydrocephalus, Abnormal heart morphology, ... |
ORPHA:93400 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the kidney, Increased circulating IgG4 level, Eosinophilia, A... |
ORPHA:449432 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, E... |
OMIM:617072 |
Capillary Malformation-Arteriovenous Malformation |
|
Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformat... |
ORPHA:137667 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Ventriculomegal... |
OMIM:618314 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Limb joint contracture, Central adrenal i... |
OMIM:612079 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Hydrocep... |
ORPHA:163596 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal circulating enzyme concentration or activity, Abnormal heart valve morphology, Abnormal ... |
ORPHA:217093 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act... |
OMIM:277400 |
High Altitude Pulmonary Edema |
|
Leukocytosis, Tachycardia |
ORPHA:330012 |
Hyperostosis Cranialis Interna |
|
Ocular hypertension |
OMIM:144755 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydrocephalus, Hydronephrosis |
ORPHA:251046 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Dilation of Virchow-Robin spaces, Camptodactyly of finger, Supernumerary nipple, Unilateral renal... |
OMIM:619951 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Prematu... |
ORPHA:79474 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp... |
ORPHA:90794 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Hashimoto thyroidi... |
ORPHA:275 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M... |
ORPHA:904 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Arterial dissection, Camptodactyly of finger, Arterial... |
ORPHA:284984 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... |
ORPHA:2688 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus |
OMIM:615599 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Entero... |
OMIM:307200 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Increased urinary glycerol |
OMIM:229700 |
Icf Syndrome |
|
Communicating hydrocephalus, Abnormality of neutrophils, Decreased circulating antibody level, Ma... |
ORPHA:2268 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian cys... |
OMIM:158350 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d... |
ORPHA:411709 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Thanatophoric Dysplasia |
|
Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus, Atrial septal defect, Ventric... |
ORPHA:2655 |
Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Hydroc... |
ORPHA:254516 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Hematemesis, CSF pleocytosis, Jaundice, Retinal hemorrhage, Hepati... |
ORPHA:319251 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Hydrocephalus, Patent ductus arteri... |
ORPHA:2306 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Congenital diaphragmati... |
OMIM:208050 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Agam... |
OMIM:209920 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... |
ORPHA:3342 |
Holoprosencephaly |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Holoprosencephal... |
ORPHA:2162 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Grfoma |
|
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat... |
ORPHA:97261 |
Immunodeficiency 68 |
|
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
Ppoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Hepatomegaly, Hypercalcemia, Elevated circ... |
ORPHA:97278 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Hypertension, Hypoalbuminemia, V... |
OMIM:610965 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Anteri... |
ORPHA:466791 |
Alexander Disease |
|
Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Aqueductal stenosis, H... |
ORPHA:58 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Cryptorchidism, Hyperammonemia, Hypertension, 3-Methylglutaconic aciduria, Arrhythmi... |
OMIM:614052 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Muscular dystrophy, Ventriculomegaly |
OMIM:614830 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Vasc... |
OMIM:603387 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hyperhomocystinemia, Neutropenia, Gl... |
ORPHA:79282 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Atrial septal ... |
OMIM:274000 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Ventriculomegaly, Cerebral hemorrhage, Secundum atri... |
OMIM:617397 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Decreased HDL cholesterol concentration, Increased circulating interleuk... |
OMIM:256040 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Encephalocele, Abnormal pulmonary valve morphology, Portal hypertens... |
ORPHA:974 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Abnormality of the kidney, Hydrocephalus, Tubulointerstitial nephritis, Enuresis, Camptodactyly, ... |
ORPHA:459061 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus,... |
ORPHA:2437 |
Smith-Kingsmore Syndrome |
|
Diastasis recti, Cryptorchidism, Thrombocytopenia, Ventriculomegaly, Decreased circulating IgA level |
OMIM:616638 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Primary Ciliary Dyskinesia |
|
Abnormal inferior vena cava morphology, Abnormal atrial arrangement, Atrial situs ambiguous, Aspl... |
ORPHA:244 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Cryptorchidis... |
ORPHA:912 |
Adrenoleukodystrophy |
|
Urinary incontinence, Primary adrenal insufficiency, Hypogonadism, Elevated circulating long chai... |
OMIM:300100 |
Cockayne Syndrome A |
|
Anhidrosis, Renal insufficiency, Hip contracture, Proteinuria, Hepatomegaly, Cryptorchidism, Sple... |
OMIM:216400 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell cou... |
OMIM:242860 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Hydrocephalus, Pulmonic stenosis |
ORPHA:2701 |
Adrenomyeloneuropathy |
|
Urinary incontinence, Abnormal circulating fatty-acid concentration, Primary adrenal insufficienc... |
ORPHA:139399 |
Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Vascular dilatation, Hydrocephalus, Tubular lumin... |
OMIM:219730 |
Netherton Syndrome |
|
Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level, Aminoacidu... |
ORPHA:634 |
Glucagonoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Hepatomegaly, Diabetes mellitus, Hypercalc... |
ORPHA:97280 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of finger, Congenital diap... |
ORPHA:261344 |
Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, Atrial septal defect, Abnormality of the hypothalamus-pitui... |
ORPHA:84 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypospadias, Diastasis recti, Cryptorchidism, Ventriculomegaly, Decreased circulating IgA level |
ORPHA:457485 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ... |
ORPHA:273 |
Incontinentia Pigmenti |
|
Eosinophilia, Attention deficit hyperactivity disorder |
ORPHA:464 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Ventricular septal defect, Complete atrioventricular canal defect,... |
OMIM:236680 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Adrenal hypoplasia, Asplenia, Dandy-Walker malformation, Accessory splee... |
OMIM:249000 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the spleen, Hydrocephal... |
ORPHA:1834 |
Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Hypospadias, Cryptorchidism, Hydrocephalus, Meningocele, Abnor... |
ORPHA:3376 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Retinal arteriolar constri... |
ORPHA:191 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurrent hand flappi... |
OMIM:617600 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy |
OMIM:252920 |
Igg4-Related Pachymeningitis |
|
Increased CSF protein concentration, Eosinophilia, Increased circulating IgG4 level, Lower limb m... |
ORPHA:449427 |
Hurler Syndrome |
|
Aortic regurgitation, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Hydrocephal... |
OMIM:607014 |
Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Facial palsy, Elevated circulating C-reac... |
ORPHA:297 |
Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA, Increased CSF protein concentration, Ventriculomegaly, Abnormal ... |
ORPHA:1929 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Bi... |
OMIM:611134 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... |
ORPHA:91348 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hydro... |
OMIM:253800 |
Cirrhosis, Familial |
|
Jaundice, Fulminant hepatitis, Micronodular cirrhosis, Biliary cirrhosis, Increased level of L-fu... |
OMIM:215600 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f... |
OMIM:620351 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Leukocytosis, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, ... |
ORPHA:134 |
Meningioma |
|
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... |
ORPHA:2495 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Thyroiditis, Steatorrhea, Iron deficiency anemi... |
OMIM:212750 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Heparan sulfate excretion in urin... |
OMIM:253220 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level |
OMIM:616576 |
Fg Syndrome Type 1 |
|
Hypospadias, Progressive flexion contractures, Cryptorchidism, Hydrocephalus, Mitral valve prolap... |
ORPHA:93932 |
Fontaine Progeroid Syndrome |
|
Atrial septal defect, Prominent superficial veins, Absent nipple, Bicuspid aortic valve, Tricuspi... |
OMIM:612289 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Congenital muscular dystrophy, Ventriculomegaly |
ORPHA:324416 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def... |
ORPHA:881 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, A... |
OMIM:194050 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vascu... |
ORPHA:1572 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Neurogenic bladder, Diabetes mellitus, Decreased ... |
OMIM:604928 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Ventriculomegaly, Cryptorchidism, Hydrocephalus, Ab... |
ORPHA:899 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... |
ORPHA:79078 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Abnormality of the thyroid gland, Coarctation of aorta, A... |
ORPHA:1923 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Ventricular septal defect, Cryptorchidism, Thrombocytopenia, Hyd... |
ORPHA:163979 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Adrenocorticotropin receptor defec... |
OMIM:231550 |
Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... |
ORPHA:157954 |
Tempi Syndrome |
|
Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG lev... |
ORPHA:284227 |
Hennekam Syndrome |
|
Camptodactyly of finger, Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangie... |
ORPHA:2136 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Neonatal hyperbilirubinemia, Decreased circulating T... |
ORPHA:90674 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... |
OMIM:131100 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Patent ductus arteriosus, Hydrocephalus |
ORPHA:1516 |
Japanese Encephalitis |
|
Hyponatremia, Skeletal muscle atrophy, Neutrophilia, Facial palsy, CSF pleocytosis, Elbow flexion... |
ORPHA:79139 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Hydrocephalus, Anemia, Elevated circulati... |
OMIM:259700 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Hydrocephalus, Urethral atresia, Transposition of the great arteries, Atrioventricu... |
OMIM:314390 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Facial palsy, Camptodactyly of finger, Splenomegal... |
ORPHA:90340 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of the great arteri... |
OMIM:617877 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Muscular dystrophy, Elevated circulating creatine kinase concentration |
OMIM:615181 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cor pulmonale, Tubulointerstitial fibrosis |
OMIM:263000 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Lateral ventricular asymmetry, Scapular winging, Hydrocephalus, Mitral valve prolapse, Hypertensi... |
OMIM:616914 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary va... |
ORPHA:580 |
Muscle-Eye-Brain Disease |
|
Elevated circulating creatine kinase concentration, Hydrocephalus, Meningocele, Myopathy, Holopro... |
ORPHA:588 |
Postorgasmic Illness Syndrome |
|
Hypertension, Xerostomia, Palpitations, Hyperhidrosis |
ORPHA:279947 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Heart block, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ... |
ORPHA:175 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Nephroblastoma, Congenital diap... |
OMIM:194080 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Lymphadenopathy, Hema... |
ORPHA:536 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Encephalitis Lethargica |
|
Urinary incontinence, Upper limb muscle weakness, Increased circulating antibody level, Bradycard... |
ORPHA:83600 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Hydro... |
ORPHA:2075 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Ectopic kidney, Vascular dilatation, Hydrocephalus, Horsesh... |
OMIM:602200 |
Zika Virus Disease |
|
Increased circulating IgM level, Thrombocytopenia, Abnormal cerebrospinal fluid morphology |
ORPHA:448237 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein concentration, Reduced galactocerebrosidase activity, Autoim... |
OMIM:245200 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Renal hypoplasia/aplasia, Cr... |
ORPHA:2166 |
Helix Syndrome |
|
Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Xerostomia, Nephrolithiasis, Hype... |
OMIM:617671 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... |
ORPHA:3143 |
Bresek Syndrome |
|
Renal dysplasia, Hypoplasia of the bladder, Cryptorchidism, Hydrocephalus, Renal hypoplasia, Vesi... |
ORPHA:85284 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, Lymphadenopathy, T lymphocytopenia, Neutropenia,... |
OMIM:607944 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Xerostomia, Hypertension, Hypotension |
ORPHA:178478 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con... |
OMIM:618775 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Congestive heart failu... |
ORPHA:579 |
Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia |
OMIM:308300 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia |
ORPHA:757 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Diabetes insipidus, Polyuria, Megacystis |
OMIM:304800 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Congestive heart failure, Renal h... |
OMIM:181270 |
Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Vascular dilatation, Myelomeningocele, Hydrocephalus, Abnormal hea... |
OMIM:311200 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Congenital diaphragmatic hernia, Asplenia, Hydrocephalus, Urethral atresia, Adren... |
OMIM:273395 |
Lowry-Maclean Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Bilateral cryptorchidism, Abnormality of the abdomi... |
ORPHA:2409 |
Hogue-Janssen Syndrome 2 |
|
Ventriculomegaly, Facial hypotonia, Hydrocephalus, Unilateral renal agenesis |
OMIM:616362 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Ventriculomegaly, Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital h... |
OMIM:266920 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Splenomegaly, Primary adrenal... |
OMIM:261515 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Ventriculomegaly, Hypospadias, Nephroblastoma, Cryptorchidism, Hydr... |
OMIM:257300 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Neurogenic bladder, Hyperthyroidism, Ventricular septal defect, Decrease... |
ORPHA:488632 |
Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, Precocious puberty, Cryptorchidism, Epispadias, Skeletal ... |
ORPHA:2588 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Renal cell carcinoma, Pheochromocytoma,... |
OMIM:193300 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Hypernatremia, Megacystis, Polyuria |
OMIM:125800 |
Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Encephalocraniocutaneous Lipomatosis |
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Peripheral pulmonary artery stenosis, Ventricular septal defect, Cryptorchidism, Hydrocephalus, S... |
OMIM:613001 |
Hyperparathyroidism, Transient Neonatal |
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Communicating hydrocephalus, Hyperparathyroidism, Ventriculomegaly, Unilateral renal agenesis, Pa... |
OMIM:618188 |
Fragile X-Associated Tremor/Ataxia Syndrome |
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Hypertension, Pollakisuria, Hypotension, Urinary bladder sphincter dysfunction, Hypothyroidism |
ORPHA:93256 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Absces... |
ORPHA:139417 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
1P31P32 Microdeletion Syndrome |
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Ocular hypertension |
ORPHA:401986 |
Arachnoid Cyst |
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Encephalocele, Enlarged fossa interpeduncularis, Facial palsy, Urinary incontinence, Subarachnoid... |
ORPHA:2356 |
Scimitar Syndrome |
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Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Sing... |
ORPHA:185 |
Igg4-Related Thyroid Disease |
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Nodular goiter, Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, ... |
ORPHA:64744 |
Oligoarticular Juvenile Idiopathic Arthritis |
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Cataract, Anterior chamber synechiae, Uveitis, Band keratopathy |
ORPHA:85410 |
Proteus-Like Syndrome |
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Communicating hydrocephalus, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality ... |
ORPHA:2969 |
17Q11 Microdeletion Syndrome |
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Telangiectasia of the skin, Cerebral artery stenosis, Rhabdomyosarcoma, Precocious puberty, Abnor... |
ORPHA:97685 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... |
ORPHA:963 |
Neurofibromatosis, Type I |
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Rhabdomyosarcoma, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Pheochromocytom... |
OMIM:162200 |
Nephronophthisis 4 |
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Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Scalp-Ear-Nipple Syndrome |
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Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... |
OMIM:265380 |
Vacterl Association With Hydrocephalus |
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Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Abnormal heart morphology |
OMIM:276950 |
47,Xyy Syndrome |
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Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Hydrocephalus, Increased s... |
ORPHA:8 |
Aminopterin/Methotrexate Embryofetopathy |
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Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Hemangioma-Thrombocytopenia Syndrome |
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Hyperkalemia, Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
1Q44 Microdeletion Syndrome |
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Hydrocephalus, Horseshoe kidney, Abnormal cardiac septum morphology, Vesicoureteral reflux, Ventr... |
ORPHA:238769 |
Mucopolysaccharidosis, Type Vi |
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Hepatomegaly, Tricuspid regurgitation, Reduced leukocyte arylsulfatase B activity, Splenomegaly, ... |
OMIM:253200 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363958 |
Carey-Fineman-Ziter Syndrome |
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Skeletal muscle atrophy, Ventriculomegaly, Facial palsy, Aplasia of the pectoralis major muscle, ... |
ORPHA:1358 |
Carney Complex |
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Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, ... |
ORPHA:1359 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc... |
ORPHA:54595 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Epispadias, Abnormal penis morphology, Multicystic kidney dysplasia, Hyp... |
ORPHA:2461 |
Chromosome 6Q24-Q25 Deletion Syndrome |
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Persistent fetal circulation, Tricuspid regurgitation, Hydrocephalus, Dysplastic tricuspid valve,... |
OMIM:612863 |
Acrodysostosis 1 With Or Without Hormone Resistance |
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Unilateral renal agenesis, Cryptorchidism, Hydrocephalus, Elevated circulating thyroid-stimulatin... |
OMIM:101800 |
46,Xy Partial Gonadal Dysgenesis |
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Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micropenis, Ovarian gonadoblast... |
ORPHA:251510 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Increased urinary glycerol, Hypertriglyceridemia, Hyperglycerolemia, C... |
OMIM:307030 |
Autosomal Agammaglobulinemia |
|
Agammaglobulinemia, Hepatitis, Neutropenia |
ORPHA:33110 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of the liver, Primary adrenal insufficiency |
ORPHA:44 |
Juvenile Paget Disease |
|
Hypertension, Hyperuricemia |
ORPHA:2801 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:176270 |
Alexander Disease |
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Hydrocephalus, Increased CSF protein concentration |
OMIM:203450 |
Congenital Total Pulmonary Venous Return Anomaly |
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Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Atrial Standstill 2 |
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Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Hy... |
OMIM:615745 |
Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome, Precocious puberty, Renal cyst, Cardiac rhabdomyoma, Renal cell c... |
OMIM:191100 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Somatomammotropinoma |
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Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... |
ORPHA:314769 |
Kabuki Syndrome |
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Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Cong... |
ORPHA:2322 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
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Hydrocephalus, Bicuspid aortic valve |
ORPHA:397951 |
Hemangioblastoma |
|
Upper limb muscle weakness, Neurogenic bladder, Lower limb muscle weakness, Hydrocephalus |
ORPHA:252054 |
Joubert Syndrome With Oculorenal Defect |
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Encephalocele, Renal insufficiency, Hydrocephalus, Nephropathy, Abnormality of the hypothalamus-p... |
ORPHA:2318 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Facial palsy, Hydrocephalus, Hypocalcemia, Anemia |
ORPHA:53 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly, Primary adrenal insufficiency |
ORPHA:1048 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Telangiectasia, Atrial septal... |
OMIM:612582 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Neurogenic bladder, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextroca... |
OMIM:613686 |
Pagod Syndrome |
|
Encephalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Renal hypoplasia/ap... |
ORPHA:991 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Joubert Syndrome With Renal Defect |
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Encephalocele, Renal insufficiency, Hydrocephalus, Nephropathy, Abnormality of the hypothalamus-p... |
ORPHA:220497 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
Optic Pathway Glioma |
|
Precocious puberty, Hydrocephalus |
ORPHA:2086 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased circulatin... |
OMIM:606056 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Hypertrophic ... |
OMIM:612938 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Myopathy, Centronuclear, X-Linked |
|
Elevated hepatic transaminase, Facial palsy, Cryptorchidism, Hydrocephalus, Flexion contracture, ... |
OMIM:310400 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Congenital diaphragmatic hernia |
ORPHA:380 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Hepatomegaly, Malformation of the hepatic ... |
OMIM:607361 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated hepatic transaminase, Facial palsy, Elevated circulating creatine kinase concentration, ... |
OMIM:610131 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus, Pelvic kidney, Bone marrow hypocellularity, Anemia |
OMIM:617244 |
Mosaic Variegated Aneuploidy Syndrome |
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Aortic regurgitation, Multicystic kidney dysplasia, Ventriculomegaly, Rhabdomyosarcoma, Coarctati... |
ORPHA:1052 |
Trisomy 8P |
|
Peripheral pulmonary artery stenosis, Multiple joint contractures, Abnormal atrioventricular conn... |
ORPHA:264450 |
Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Uppe... |
ORPHA:2912 |
Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Glutaric aciduria, Hydrocephalus, Lateral ventricle dilatation, Reduced ... |
OMIM:231670 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus |
OMIM:618174 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Overriding aorta, Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Juncti... |
OMIM:309801 |
Au-Kline Syndrome |
|
Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Lip... |
OMIM:616580 |
Neural Tube Defects, Susceptibility To |
|
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
OMIM:182940 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Flexion contracture, Renal cyst, Knee flexion contracture, Atrial septal defect, Micropenis, Pate... |
OMIM:210710 |
Dural Sinus Malformation |
|
Chemosis, Ocular hypertension |
ORPHA:97339 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pa... |
ORPHA:2750 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Elevated hepatic transaminase, Jaundice, Hepatitis, Hyperammo... |
ORPHA:90062 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... |
OMIM:269200 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Meacham Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus t... |
ORPHA:3097 |
Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Adrenal insufficiency, Decreased liver function, Ureterocele |
OMIM:614863 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Facial palsy, Splenom... |
OMIM:259720 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
Lateral Meningocele Syndrome |
|
Neurogenic bladder, Decreased muscle mass, Bicuspid aortic valve, Ventricular septal defect, Cryp... |
OMIM:130720 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Paten... |
ORPHA:77298 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure... |
ORPHA:508542 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... |
ORPHA:740 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hydrocephalus, Ventriculomegaly |
OMIM:618577 |
Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Abnormality of Krebs cycle metabolism, Hydrocephalus, Abnormal urine alp... |
ORPHA:31 |
Nail-Patella Syndrome |
|
Ocular hypertension, Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glauco... |
ORPHA:2614 |
Say-Barber-Miller Syndrome |
|
Cryptorchidism, Transient hypogammaglobulinemia of infancy, Elbow flexion contracture, Decreased ... |
ORPHA:3132 |
Thanatophoric Dysplasia Type 1 |
|
Abnormality of the kidney, Hydrocephalus, Patent ductus arteriosus, Atrial septal defect, Ventric... |
ORPHA:1860 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Hec Syndrome |
|
Communicating hydrocephalus, Vaginal hydrocele, Cardiomyopathy, Endocardial fibroelastosis, Arrhy... |
ORPHA:2119 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... |
ORPHA:90647 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Abnormal circulating enzyme concentration or activity, Lower limb muscle weakn... |
ORPHA:395 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Whim Syndrome |
|
Lymphadenitis, Abnormal neutrophil morphology, Tetralogy of Fallot, Decreased circulating antibod... |
ORPHA:51636 |
Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Precocious pub... |
OMIM:613254 |
Cockayne Syndrome B |
|
Anhidrosis, Renal insufficiency, Hepatomegaly, Proteinuria, Splenomegaly, Cryptorchidism, Hyperte... |
OMIM:133540 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Astigmatism, Ocular hypertension |
ORPHA:2953 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Hydrocephalus, Flex... |
ORPHA:581 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Immunodeficiency 56 |
|
Cholangitis, Cirrhosis, Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Panh... |
OMIM:615207 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arteriovenous malformation, Arrhyth... |
ORPHA:60040 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Meacham Syndrome |
|
Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventration, Accesso... |
OMIM:608978 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Hydrocephalus, Grade II vesicoureteral reflux, Cho... |
OMIM:619377 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
Mannosidosis, Alpha B, Lysosomal |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Macrogl... |
OMIM:248500 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98754 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Hypohidrosis, Hypothyro... |
ORPHA:1812 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary ... |
OMIM:100300 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnorma... |
ORPHA:2184 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Polyuria, Pulmonary arteriovenous malformation, Hy... |
OMIM:606721 |
Endocrine-Cerebroosteodysplasia |
|
Ventriculomegaly, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Microphallus, H... |
OMIM:612651 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Desmosterolosis |
|
Renal agenesis, Renal hypoplasia/aplasia, Splenomegaly, Hydrocephalus, Patent ductus arteriosus, ... |
ORPHA:35107 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Dys... |
OMIM:251260 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Decreased circulating cortisol level, Abnormal circulating fatty-acid concentration, Myelopathy, ... |
ORPHA:139396 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98793 |
Neurofibromatosis Type 1 |
|
Abnormality of the upper urinary tract, Abnormality of the endocrine system, Cryptorchidism, Prec... |
ORPHA:636 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Hydrocephalus, Patent ductus arteriosus, A... |
OMIM:269860 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Ventriculomegaly, Abn... |
ORPHA:2072 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177904 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Elevated circulating alkaline phosphatase concentration, Hydrocephalus, Abnormal renal morphology... |
OMIM:239300 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Increased circulat... |
OMIM:619472 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177901 |
1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Abnormal cardiac septum morphology, Inte... |
ORPHA:250989 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Hydrocephalus, Flexion contracture, Hypogonadism, Micropenis, Dilated third ventr... |
ORPHA:500055 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Pericardial effusion, Hydrocephalus, Camptodactyly, Arthrogryposis multiplex co... |
OMIM:617822 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus |
ORPHA:352682 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 2nd toe, Hypospadias, Ventricular septal... |
OMIM:300166 |
Peroxisome Biogenesis Disorder 2B |
|
Elevated circulating long chain fatty acid concentration, Adrenal insufficiency |
OMIM:202370 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypertension, Abnormality of the pancreas |
ORPHA:1555 |
Igg4-Related Ophthalmic Disease |
|
Abnormality of the kidney, Increased circulating IgG4 level, Eosinophilia, Orchitis, Elevated cir... |
ORPHA:449563 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease... |
OMIM:609049 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Hydrocephalus, Flexion contracture, Muscular dystrophy, Elevated circulating creatine kinase conc... |
OMIM:615249 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Dysuria, Decreased circulating antibody level, Decreased s... |
OMIM:618131 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadism |
OMIM:601794 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Patent ductus... |
OMIM:602535 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Congenital diaphragmatic herni... |
ORPHA:96121 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly, Acute leukemia |
ORPHA:2770 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hydrocephalus, Hepatosplenomegaly, Anemia, Facial par... |
OMIM:259710 |
Trichothiodystrophy 1, Photosensitive |
|
Flexion contracture, Decreased circulating IgG level, Hypogonadism, Telangiectasia |
OMIM:601675 |
Gorlin Syndrome |
|
Cryptorchidism, Hydrocephalus, Hypogonadotropic hypogonadism |
ORPHA:377 |
Lymphatic Filariasis |
|
Hypereosinophilia |
ORPHA:2035 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus |
OMIM:615191 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Micropenis, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Hydrocephalus, Retinal telangiectasia |
OMIM:620157 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Abnormal circulating enzyme concentration or activity, Glutaric acid... |
ORPHA:25 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:1528 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Hydrocephalus,... |
OMIM:616007 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Mucopolysacchariduria, Increased CSF protein concentra... |
OMIM:272200 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Mitral valve ... |
OMIM:611962 |
Cardiofaciocutaneous Syndrome 1 |
|
Splenomegaly, Hydrocephalus, Hyperhidrosis, Pulmonic stenosis, Atrial septal defect, Hypertrophic... |
OMIM:115150 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
Joubert Syndrome |
|
Situs inversus totalis, Encephalocele, Abnormality of the hypothalamus-pituitary axis, Hydrocephalus |
ORPHA:475 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Dextrocardia |
ORPHA:220493 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hydrocephalus, Hypospadias, Abnormal heart morphology |
OMIM:601499 |
Metatropic Dysplasia |
|
Hydrocephalus, Camptodactyly of finger |
ORPHA:2635 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Hydrocephalus, Abnormality o... |
ORPHA:538 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... |
OMIM:218700 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hydrocephalus |
ORPHA:2181 |
15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Tricuspid regurgitation, Ure... |
ORPHA:314585 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Myelomeningocele, Hydrocephalus |
ORPHA:1914 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Congenital hypothyroidism... |
ORPHA:79500 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Decreased circulating antibody level, Anemia, Hypoalbuminemia, Vent... |
ORPHA:79396 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Hyperactivity, Ventricular septal defect, Dextrocardia, Coronary artery fistul... |
OMIM:614294 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension, Hydrocephalus, Hypospadias, Ventriculomegaly |
OMIM:123790 |
Trichothiodystrophy |
|
Ventriculomegaly, Multiple joint contractures, Ventricular septal defect, Cryptorchidism, Increas... |
ORPHA:33364 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251915 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Absent nipple, Hydrocephalus, Patent ductus arteriosus, Mitral valve prolapse, Ureteral triplicat... |
OMIM:104350 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Renal cyst, Atrial septal defect, Hepatoblastoma, Hepatomegaly, ... |
OMIM:312870 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Lateral ventricle dilatation, Limb hypertonia |
OMIM:614219 |
Houge-Janssens Syndrome 1 |
|
Congenital muscular torticollis, Hydrocephalus, Facial hypotonia, Ventriculomegaly |
OMIM:616355 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... |
OMIM:618213 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte... |
OMIM:270100 |
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 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Arachnoiditis |
|
Anhidrosis, Hydrocephalus, Urinary bladder sphincter dysfunction |
ORPHA:137817 |
Plasminogen Deficiency, Type I |
|
Ventriculomegaly, Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Nephritis, Dand... |
OMIM:217090 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Hypospadias, Mitral stenosis, Ventricular septal defect, Splenomegaly, Hydrocephalu... |
ORPHA:955 |
Tetrasomy 9P |
|
Myositis, Biliary atresia, Micropenis, Patent foramen ovale, Dandy-Walker malformation, Absent ga... |
ORPHA:3310 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Colpocephaly, Hydrocephalus, Distal arthrogryposis, Ventriculomegaly |
OMIM:619833 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Hydrocephalus, Flexion contracture |
OMIM:613330 |
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome |
|
Heart block, Bacterial endocarditis, Premature ventricular contraction |
ORPHA:1964 |
Exstrophy-Epispadias Complex |
|
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... |
ORPHA:322 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
Apert Syndrome |
|
Hypertension, Hydrocephalus, Ventriculomegaly, Ovarian neoplasm |
ORPHA:87 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia |
ORPHA:52368 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Ventricular septal defect, Polyuria, Unilateral renal a... |
OMIM:617140 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Gracile Bone Dysplasia |
|
Asplenia, Hydrocephalus, Hypoplastic spleen, Hypocalcemia, Micropenis |
OMIM:602361 |
Alexander Disease Type I |
|
Hydrocephalus |
ORPHA:363717 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Brain abscess, Urinary incontinence, Congestive heart failure, Hydrocephalus, Pulmonary arterial ... |
OMIM:616482 |
Aase-Smith Syndrome I |
|
Hydrocephalus, Flexion contracture, Ventricular septal defect, Dandy-Walker malformation |
OMIM:147800 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Encephalocele, Pancreatic f... |
ORPHA:564 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Elevated circulating creatine kinase concentration, Hydrocephalus, Muscular dystrophy, Increased ... |
OMIM:616538 |
Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse, Decreased circulati... |
ORPHA:96129 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Hydrocephalus, Hematochezia, Renal tubular acidosis, Lateral ventricle... |
OMIM:619575 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Cryptorchidism, Hydrocephalus, Pulmonic stenosis, Atrial septal ... |
ORPHA:1340 |
Aymé-Gripp Syndrome |
|
Pericarditis, Proteinuria, Congenital diaphragmatic hernia, Pericardial effusion, Cryptorchidism,... |
ORPHA:1272 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe ki... |
OMIM:612284 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Buphthalmos, Developmental glaucoma, Ocular hypertension |
OMIM:610199 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Cryptorchidism, Hydrocephalus, Micropenis, Ventriculomegaly |
OMIM:614969 |
Thoracoabdominal Syndrome |
|
Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Hydrocephalus, Patent ductus arteri... |
OMIM:313850 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Hydrocephalus, Mucopolysacchariduria, Hepatomegaly |
ORPHA:585 |
Plague |
|
Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Lymphadenitis, Endocarditis, Enlarged mesen... |
ORPHA:707 |
Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hydrocephalus, Renovascular... |
ORPHA:3472 |
Immunodeficiency 12 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Absent isohemagglutinin level, Comple... |
OMIM:615468 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Elevated circulating creatine kinase concentration, Hydrocephalus, Skeletal muscle... |
OMIM:613150 |
Primary Progressive Freezing Gait |
|
Hypertension, Urinary incontinence |
ORPHA:75567 |
Okur-Chung Neurodevelopmental Syndrome |
|
Abnormal heart morphology, Decreased circulating IgG level, Decreased circulating IgA level, Decr... |
OMIM:617062 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus, Ventriculomegaly |
OMIM:304100 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Hypospadias, Abnormality of neutrophils, Cryptorchidism, Thrombocytopenia, Hy... |
ORPHA:235 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Genera... |
OMIM:139210 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Adrenal insufficiency, Hypohidrosis |
OMIM:615510 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pulmonary embolism, Int... |
ORPHA:394 |
Knobloch Syndrome |
|
Occipital encephalocele, Dextrocardia, Hydrocephalus, Patent ductus arteriosus, Vesicoureteral re... |
ORPHA:1571 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Cr... |
OMIM:236670 |
Gapo Syndrome |
|
Hepatomegaly, Prominent scalp veins, Facial palsy, Retinal arteriolar tortuosity, Hypoplastic nip... |
OMIM:230740 |
Tetrasomy 5P |
|
Congestive heart failure, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wall musculature, He... |
ORPHA:3309 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto... |
ORPHA:709 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Hydrocephalus, Abnormal renal morphology, Flexion contracture, Camptodactyly, Atrial septal defect |
OMIM:207410 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Holoprosencephaly, Atrial septal def... |
ORPHA:672 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Abnormal heart valve morphology, Hypospadias, Camptodactyly of finger, Ureteral ob... |
ORPHA:90652 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Crossed fused renal ectopia, Ventricular septal defect, Premature thelarche, Au... |
OMIM:147920 |
Oculocerebrocutaneous Syndrome |
|
Ventriculomegaly, Congenital diaphragmatic hernia, Cryptorchidism, Hydrocephalus, Dandy-Walker ma... |
ORPHA:1647 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Elevated hepatic transaminase, Torticollis, Hypospadias, Bicuspid aortic va... |
OMIM:619475 |
Jacobsen Syndrome |
|
Hypospadias, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Flexion contracture, Holop... |
OMIM:147791 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Hydrocephalus, Coarct... |
ORPHA:268249 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Cryptorchidism, Hydrocephalus, Flexion contracture, Abnormal heart morphology |
ORPHA:1865 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hyperhidrosis, Hydron... |
OMIM:101200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Communicating hydrocephalus, Multicystic kidney dysplasia, Occipital e... |
OMIM:615287 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Absent extraocular muscles, Ventriculomegaly |
OMIM:109120 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Limb muscle weakness |
OMIM:207950 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Transpos... |
ORPHA:1780 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus, Urinary incontinence |
OMIM:236690 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Aortic regurgitation, Ventriculomegaly, Cerebral hemorrhage, Hyd... |
ORPHA:666 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Spina bifida, Hydrocephalus, Hydranencephaly, Hydronephrosis |
ORPHA:2839 |
Vascular Ehlers-Danlos Syndrome |
|
Internal hemorrhage, Peripheral arteriovenous fistula, Hypospadias, Cryptorchidism, Varicose vein... |
ORPHA:286 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Hydrocephalus, Pulmonary artery ... |
ORPHA:667 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Stromme Syndrome |
|
Accessory spleen, Hydrocephalus, Bilateral renal hypoplasia, Myopathy, Hydronephrosis |
OMIM:243605 |
Joubert Syndrome 2 |
|
Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Hydrocephalus, Renal cyst, ... |
OMIM:608091 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
ORPHA:1895 |
Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93924 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hydrocephalus |
ORPHA:93262 |
Costello Syndrome |
|
Renal insufficiency, Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Hy... |
OMIM:218040 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Dubowitz Syndrome |
|
Aplastic anemia, Hypospadias, Cryptorchidism, Acute lymphoblastic leukemia, Hypocholesterolemia, ... |
OMIM:223370 |
Desmosterolosis |
|
Ventriculomegaly, Hydrocephalus, Patent ductus arteriosus, Abnormal circulating cholesterol conce... |
OMIM:602398 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Ventriculomegaly, Hypoplasia of the musculature, Hydrocephalus, Hydranencephaly, Joint contractur... |
OMIM:225790 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Polycystic kidney dysplasia, Hyperechogenic kidneys, Ventricu... |
OMIM:617866 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Decreased muscle mass, Hydrocephalus, Prominent superficial veins |
OMIM:612940 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Ventriculomegaly,... |
OMIM:615219 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Crouzon Syndrome |
|
Hydrocephalus |
ORPHA:207 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hypochromic anemia, Hydrocephalus, Abnormality of neutrophils, Abnormal renal tubule morphology |
ORPHA:2720 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Polycystic kidney dysplasia, Atrial ... |
OMIM:616546 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Unilateral renal age... |
ORPHA:261337 |
Legius Syndrome |
|
Acute monocytic leukemia, Paroxysmal atrial tachycardia, Nephrolithiasis, Ovarian neoplasm, Mitra... |
ORPHA:137605 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Hydrocephalus... |
ORPHA:536467 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Hypospadias, Camptodactyly of finger, Bicuspid aortic valve, Ectopi... |
OMIM:607872 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Communicating hydrocephalus, Recurrent urinary tract infections, Pancytopen... |
ORPHA:309282 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Leukocytosis, Flexion contracture, Hydrocephalus, Renal hypoplasia, Hypoplasia of the ovary, Azot... |
OMIM:619321 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... |
ORPHA:3455 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Vesicovaginal fistula, Hypertension, Lateral ventricle dilatation, Atrial septal defect, Ureterop... |
OMIM:300896 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Decreased circulating IgG level, Neutropenia, Congenital hypothyroidism |
OMIM:271510 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Facial hypotonia, Noncommunicating hydrocephalus |
OMIM:619320 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Bone marrow hypocellularity, Micropen... |
OMIM:614083 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Abnormality of the kidney, Congenital diaphragmatic her... |
ORPHA:2369 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Hypospadias, Cryptorchidism, Hydrocephalus, Abnormal heart morpholog... |
OMIM:305450 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Cryptorchidism, Telangiectasia, Hypertension, Pulmonary arterial hypertension |
OMIM:234100 |
Mend Syndrome |
|
Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydrocephalus, Abnormal... |
ORPHA:401973 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Ventriculomegaly, Elevated circulating creatine kinase concentration, Hydrocephalu... |
OMIM:614643 |
L1 Syndrome |
|
Aqueductal stenosis, Skeletal muscle atrophy, Hydrocephalus |
ORPHA:275543 |
Raine Syndrome |
|
Hydroureter, Hydrocephalus, Elevated circulating alkaline phosphatase concentration, Hypophosphat... |
OMIM:259775 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Progressive ventriculomegaly, Transient ischemic attack, Bilateral renal dysp... |
ORPHA:500150 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus, Endocardial fibroelastosis |
OMIM:600559 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Microcytic anemia, Leukocytosis, ... |
ORPHA:99843 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Tricuspid regurgitation, Hypospadias, Congenital diaphragmatic hernia,... |
ORPHA:2556 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Ventricular septal defect, Facial palsy, Hydrocephalus, Patent duct... |
OMIM:300373 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... |
ORPHA:261537 |
Townes-Brocks Syndrome 1 |
|
Atrial septal defect, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral va... |
OMIM:107480 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Radial Aplasia, X-Linked |
|
Hydrocephalus, Penile hypospadias |
OMIM:312190 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Hydrocephalus, Bi... |
OMIM:609192 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Congenital contracture, Hydrocephalus, Colpocephaly, Ventriculomegaly |
OMIM:620156 |
Rhombencephalosynapsis |
|
Hydrocephalus, Abnormal renal morphology, Ventriculomegaly |
ORPHA:59315 |
Melanosis, Neurocutaneous |
|
Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation |
OMIM:249400 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro... |
OMIM:619895 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Dilation of Virchow-Robin spaces, Aqueductal stenosis, Cryptorchidism, Fetal pyelectasis, Hydroce... |
OMIM:619512 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Hydrocephalus, Mitral valve prolapse, Camptodactyly, Joint contracture of the han... |
OMIM:182212 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Hydrocephalus, Abnormal renal morphology, Ab... |
ORPHA:363700 |
Amelocerebrohypohidrotic Syndrome |
|
Hydrocephalus, Hypohidrosis |
ORPHA:1946 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hydrocephalus |
ORPHA:2180 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... |
ORPHA:2152 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Cryptorchid... |
OMIM:308205 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Hydrocephalus, Retinal telangiectasia |
OMIM:620155 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... |
ORPHA:261552 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Rhabdomyosarcoma, Hydrocephalus, Cardiac fibroma, Nephroblastoma, Ventriculomegaly |
ORPHA:77301 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Ocular hypertension |
ORPHA:93315 |
Lhermitte-Duclos Disease |
|
Macroglossia, Hydrocephalus, Neoplasm of the thyroid gland, Ovarian neoplasm |
ORPHA:65285 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke |
ORPHA:447788 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Ventriculomegaly, Hypocalcemia, Dandy-Walker malformation |
OMIM:618476 |
Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, ... |
OMIM:102500 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hydrocephalus |
ORPHA:3301 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Peho Syndrome |
|
Arthrogryposis multiplex congenita, Hydrocephalus, Flexion contracture, Ventriculomegaly |
ORPHA:2836 |
Fraser Syndrome 1 |
|
Encephalocele, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Myelomeningocele, Hydroceph... |
OMIM:219000 |
Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
Pettigrew Syndrome |
|
Aqueductal stenosis, Hydrocephalus, Flexion contracture, Dandy-Walker malformation, Ventriculomegaly |
OMIM:304340 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Camptodactyly of finger, Cryptorchidism, Aplasia/Hypoplasia of the a... |
ORPHA:2462 |
Coffin-Siris Syndrome 12 |
|
Elevated hepatic transaminase, Hypospadias, Facial palsy, Cryptorchidism, Patent foramen ovale, N... |
OMIM:619325 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
Pseudoaminopterin Syndrome |
|
Posterolateral diaphragmatic hernia, Asplenia, Cryptorchidism, Hydrocephalus, Horseshoe kidney, P... |
ORPHA:221120 |
Mend Syndrome |
|
Cryptorchidism, Hydrocephalus, Aortic valve stenosis, Crossed fused renal ectopia, Dandy-Walker m... |
OMIM:300960 |
Chromosome 17P13.1 Deletion Syndrome |
|
Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion contracture, Hydrocele testi... |
OMIM:613776 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Unilateral renal agenesis, Aqueductal... |
OMIM:154400 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Recurrent urinary tract infections, Crossed fused renal ectopia, Hyp... |
OMIM:619841 |
Cousin Syndrome |
|
Hydrocephalus, Camptodactyly, Hydranencephaly, Joint contracture of the hand, Wrist flexion contr... |
OMIM:260660 |
Hydrolethalus |
|
Cryptorchidism, Hydrocephalus, Anencephaly |
ORPHA:2189 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect |
OMIM:243440 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Holoprosencephaly |
ORPHA:2182 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy |
ORPHA:294023 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Facial hypotonia, Unilateral renal agenesis, Hydrocephalus, Hypoplastic aortic arch, Ventriculome... |
ORPHA:457284 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block, Hydrocephalus |
OMIM:618590 |
Sponastrime Dysplasia |
|
Hypospadias, Precocious puberty, Decreased circulating antibody level, Dilatation of the cerebral... |
ORPHA:93357 |
Blau Syndrome |
|
Pericarditis, Camptodactyly of finger, Tendonitis, Hypertension, Flexion contracture of toe |
OMIM:186580 |
Iniencephaly |
|
Encephalocele, Renal agenesis, Congenital diaphragmatic hernia, Spina bifida, Myelomeningocele, H... |
ORPHA:63259 |
Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Hypertriglyceridemia, Hypospadias, Secundum atrial septal defect, Cryptorc... |
OMIM:264090 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Encephalocele, Hydrocephalus, Joint contracture of the hand, Camptodactyly |
OMIM:224400 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Communicating hydrocephalus, Situs inversus totalis |
OMIM:244400 |
Vacterl With Hydrocephalus |
|
Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosis, Cryptorchidism, Hydr... |
ORPHA:3412 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundic... |
ORPHA:168577 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Decreased muscle mass, Hypospadias, Ventricular septal defect, Precocious puber... |
OMIM:194190 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Hypospadias, Facial palsy, Cryptorchidism, Epispadias, Hydrocephalus, ... |
ORPHA:2658 |
Cryptococcosis |
|
Lymphoid leukemia, Mediastinal lymphadenopathy, Hydrocephalus, Peritonitis, Cirrhosis, Limb muscl... |
ORPHA:1546 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus |
OMIM:300863 |
Thanatophoric Dysplasia, Type I |
|
Hydrocephalus |
OMIM:187600 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension, Hyperuricemia |
ORPHA:2769 |
Muenke Syndrome |
|
Hydrocephalus |
ORPHA:53271 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Hydrocele testis, Intraventricular hemorrhage, Hydrocephalus, Ventriculomegaly |
OMIM:613603 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus |
OMIM:617542 |
Hydrocephalus, Congenital, X-Linked |
|
Aqueductal stenosis, Hydrocephalus |
OMIM:307000 |
Medulloblastoma |
|
Elevated hepatic transaminase, Cerebellar hemorrhage, Hydrocephalus |
ORPHA:616 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Unilateral renal agenesis |
ORPHA:1064 |
Beemer-Ertbruggen Syndrome |
|
Communicating hydrocephalus, Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Congenital fibrosis of extraocular muscles, Torticollis, Normal pressure hydrocephalus, Lateral v... |
ORPHA:300570 |
Holoprosencephaly 9 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:610829 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... |
ORPHA:573278 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Elevated alkaline phos... |
ORPHA:289176 |
Cole-Carpenter Syndrome 2 |
|
Hydrocephalus |
OMIM:616294 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus |
ORPHA:163966 |
Basal Cell Nevus Syndrome 1 |
|
Ovarian fibroma, Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma, Ovarian carci... |
OMIM:109400 |
Hypoplasminogenemia |
|
Hydrocephalus, Decreased level of plasminogen, Nephrolithiasis, Abnormality of the ovary, Dandy-W... |
ORPHA:722 |
Dermatomyositis |
|
Myocarditis, Pericarditis, Abnormal eosinophil morphology |
ORPHA:221 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Keutel Syndrome |
|
Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosis, Peripher... |
OMIM:245150 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Hydroceph... |
ORPHA:3205 |
Achondroplasia |
|
Hydrocephalus |
ORPHA:15 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Cryptorchidism, Epispadias, Vesicovagi... |
OMIM:258040 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Hydrocephalus |
OMIM:260500 |
Crouzon Syndrome |
|
Hydrocephalus, Dysgerminoma |
OMIM:123500 |
Developmental And Epileptic Encephalopathy 49 |
|
Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation |
OMIM:617281 |
Campomelic Dysplasia |
|
Hypospadias, Spina bifida, Contracture of the distal interphalangeal joint of the fingers, Hydroc... |
OMIM:114290 |
Large Congenital Melanocytic Nevus |
|
Hydrocephalus, Rhabdomyosarcoma |
ORPHA:626 |
Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Hydrocephalus, Ureteral agenesis, Bilateral renal... |
OMIM:617667 |
Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Monorchism, Renal agenesis, Camptodactyly of finger, Renal hypoplasia/... |
ORPHA:2753 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Bilobate gallbladder, Ventricular septal defect, Diastasis rec... |
OMIM:261540 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bilateral cryptorchidism, Hydrocephalus, Flexion contracture, Myopathy, Hypogona... |
ORPHA:3042 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac... |
OMIM:600145 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Microphthalmia With Limb Anomalies |
|
Venous insufficiency, Cryptorchidism, Hydrocephalus, Horseshoe kidney, Camptodactyly of 2nd-5th f... |
ORPHA:1106 |
Cole-Carpenter Syndrome 1 |
|
Communicating hydrocephalus, Hydrocephalus |
OMIM:112240 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Diastasis recti, Supernumerary nipple, Congenital diaphragmatic hernia, Cry... |
OMIM:305600 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Ventricular septal defect, Ankle flexion contracture, Cryptorchidi... |
OMIM:268300 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dilation of Virchow-Robin spaces, Elevated circulating creatine kinase concentr... |
OMIM:175780 |
Pfeiffer Syndrome |
|
Hydrocephalus |
OMIM:101600 |
Pfeiffer Syndrome Type 2 |
|
Aqueductal stenosis, Hydrocephalus |
ORPHA:93259 |
Hydrocephalus, Congenital, 4 |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:618667 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Occipital meningo... |
ORPHA:268810 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Hydrocephalus |
ORPHA:220295 |
Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
Basal Cell Nevus Syndrome 2 |
|
Hydrocephalus |
OMIM:620343 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Ventricular septal defect,... |
OMIM:164210 |
Laurin-Sandrow Syndrome |
|
Cryptorchidism, Hydrocephalus |
ORPHA:2378 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Elbow contracture, Spina bifida, Cryptorchidism, Hydrocephalus, Atrial septal defect... |
OMIM:304120 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... |
ORPHA:649 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Cryptorchidis... |
OMIM:208150 |
Baller-Gerold Syndrome |
|
Abnormality of the kidney, Anomalous splenoportal venous system, Hydrocephalus, Abnormal heart mo... |
OMIM:218600 |
Mohr Syndrome |
|
Hydrocephalus |
OMIM:252100 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:605627 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Muscular dystrophy, Elevated circulating creatine kinase concentration, Ventriculo... |
OMIM:253280 |
Full Nf2-Related Schwannomatosis |
|
Facial palsy, Myelopathy, Hydrocephalus, Wrist drop, Foot dorsiflexor weakness |
ORPHA:637 |
Ciliary Dyskinesia, Primary, 43 |
|
Abdominal situs inversus, Noncommunicating hydrocephalus |
OMIM:618699 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Communicating hydrocephalus, Micropenis, Facial hypotonia, Ventriculomegaly |
ORPHA:457359 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hydrocephalus |
ORPHA:3016 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus |
ORPHA:2736 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Communicating hydrocephalus, Ventriculomegaly |
OMIM:617011 |