Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
Chylous Ascites |
|
Ascites, Neoplasm, Lymphedema |
ORPHA:1160 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... |
OMIM:265300 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Retrognathia, Cardiomyopathy, Hyperplasia... |
OMIM:300280 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Wide nasal bridge, Depressed nasal ridge, Abnormality of the urinary system, Anteverted nares, Ab... |
ORPHA:2412 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... |
ORPHA:860 |
Microcephaly-Capillary Malformation Syndrome |
|
Abnormal hair whorl, Hypoplasia of the maxilla, Vesicoureteral reflux, Patent foramen ovale, Vent... |
OMIM:614261 |
Glycogen Storage Disease 0, Muscle |
|
Decreased muscle glycogen content, Cardiomyopathy, Stroke, Left atrial enlargement, Left ventricu... |
OMIM:611556 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Choanal atresia, Preauricular skin tag, Bilateral ch... |
OMIM:608572 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Congestive heart failure, Stroke-like episode, Ragged-red muscle fibers, Myopathy, Left ventricul... |
OMIM:540000 |
Fetal Parvovirus Syndrome |
|
Ascites, Increased nuchal translucency, Hydrops fetalis |
ORPHA:295 |
Classic Multiminicore Myopathy |
|
Muscular dystrophy, Microretrognathia, Right ventricular failure, Congestive heart failure, Muscl... |
ORPHA:324604 |
X-Linked Mandibulofacial Dysostosis |
|
Hypoplasia of the zygomatic bone, Micrognathia, Prominent nasal bridge, Cryptorchidism, Abnormal ... |
ORPHA:1131 |
Potocki-Shaffer Syndrome |
|
Broad nasal tip, Underdeveloped nasal alae, Depressed nasal tip, Micrognathia, Prominent nasal br... |
ORPHA:52022 |
Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
Cardiomyopathy, Dilated, 1U |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:613694 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... |
OMIM:115210 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Flared nostrils, Dilated cardiomyopathy, Retrognathia, Premature graying of hair, Moyamoya phenom... |
ORPHA:280679 |
Muscle Filaminopathy |
|
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... |
ORPHA:171445 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... |
OMIM:618052 |
Melanocytic Nevus Syndrome, Congenital |
|
Broad nasal tip, Cutaneous melanoma, Anteverted nares, Prominence of the premaxilla, Narrow nasal... |
OMIM:137550 |
Nephrosialidosis |
|
Ascites, Pericardial effusion |
OMIM:256150 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Alopecia, Carious teeth, Midface retrusion, Hypoplasia ... |
ORPHA:3253 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Choanal atresia, Depressed nasal bridge, Abnormal heart morphology, Bulb... |
ORPHA:284169 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Hypoplasia of the zyg... |
ORPHA:1110 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Increased QRS voltage, Prolonged QTc interval, Elbow flexion contractu... |
OMIM:619040 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature coronary artery... |
OMIM:300845 |
Atrial Fibrillation, Familial, 6 |
|
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... |
OMIM:612201 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fetalis |
OMIM:619462 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration, Left ventricular hypertrophy, Abnormal renal corti... |
OMIM:616733 |
Fixed Subaortic Stenosis |
|
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... |
ORPHA:3092 |
Toluene Embryopathy |
|
Hypoplasia of the zygomatic bone, Micrognathia, Cryptorchidism, Hydronephrosis, Thin vermilion bo... |
ORPHA:1920 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide nasal bridge, Cholelithiasis, Abnormality of the hairline, Prominent nose, Renal tubular dys... |
OMIM:614886 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... |
ORPHA:206546 |
Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Anosmia, Hypoplasia of the zygomatic bone, Thin upper lip vermilion, Hypogonadotropic hypogonadis... |
ORPHA:1295 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... |
ORPHA:75566 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Type I diabetes mellitus, Arterial stenosis, Cerebral artery atherosclerosis, Abnorm... |
ORPHA:1192 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Depressed nasal ridge, Type I diabetes mellitus, Delayed eruption of teeth, Everted upper lip ver... |
ORPHA:181 |
Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Renal hypoplasia, Premature graying of hair, Hypogonadism, Narrow nasal bridge... |
OMIM:618681 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Congestive heart failure, Left ventricular hypertrophy, Increased urine ... |
OMIM:619048 |
Chromosome 9P Deletion Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Choanal atresia, Depressed nasal bridge, Midface retrus... |
OMIM:158170 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Cardiomyopathy, Dilated, 1Kk |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... |
OMIM:615248 |
Marshall Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Sparse eyebrow, Hypoplasia ... |
ORPHA:560 |
Nager Syndrome |
|
Unilateral renal agenesis, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Non-midli... |
ORPHA:245 |
Cardiomyopathy, Dilated, 1V |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... |
OMIM:613697 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... |
ORPHA:99095 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Depressed nasal bridge, Choanal atresia, Midface retrusion, Hypoplasia of the zygomatic bone, Pre... |
ORPHA:1555 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Arthrogryposis multiplex congenita, Reduced renal c... |
OMIM:208085 |
Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
Cantu Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Congenital hypertrophy of left ventricle, Thick lower ... |
OMIM:239850 |
Mucolipidosis Type Iii Alpha/Beta |
|
Aortic regurgitation, Depressed nasal bridge, Recurrent upper respiratory tract infections, Oligo... |
ORPHA:423461 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... |
ORPHA:353 |
Familial Hyperaldosteronism Type Iii |
|
Epistaxis, Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Hyperca... |
ORPHA:251274 |
Cardiofaciocutaneous Syndrome |
|
Cryptorchidism, Low posterior hairline, Atrial septal defect, Brittle hair, Sparse hair, Short no... |
ORPHA:1340 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... |
OMIM:608751 |
Pituitary Adenoma 1, Multiple Types |
|
Pituitary adenoma, Increased circulating prolactin concentration, Cardiomyopathy, Pituitary prola... |
OMIM:102200 |
Frontonasal Dysplasia 1 |
|
Wide nasal bridge, Bifid nasal tip, Joint contracture of the hand, Hypoplasia of the maxilla, Bro... |
OMIM:136760 |
Burn-Mckeown Syndrome |
|
Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal cardiac septum mor... |
ORPHA:1200 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... |
OMIM:601894 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia, Supernumerary nipple, Abn... |
ORPHA:1812 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect, Arrhythmia, Choanal a... |
ORPHA:2162 |
20P12.3 Microdeletion Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Malar flattening, Atrial se... |
ORPHA:261295 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... |
OMIM:614676 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Malar flattening, Hypoplasia of the zygomatic bone, Short nose |
ORPHA:2835 |
Diffuse Neonatal Hemangiomatosis |
|
Ascites, Polyhydramnios, Hepatomegaly, Hydrops fetalis, Hemangiomatosis, Visceral angiomatosis |
ORPHA:2123 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Micrognathia, Brittle hair, Sparse hair, Choanal atresia, Alopecia,... |
ORPHA:2750 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... |
OMIM:137950 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... |
OMIM:613838 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Ventricular septal... |
OMIM:613870 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Carious teeth, Natal tooth, Micrognathia, Aplasia of the thymus, Atrial septal defect, Sparse hai... |
OMIM:620186 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Wide nasal bridge, High anterior hairline, Broad nasal tip, Thick nasal alae, Thin eyebrow, Narro... |
OMIM:618147 |
Prolidase Deficiency |
|
Depressed nasal ridge, Depressed nasal bridge, Carious teeth, Hypoplasia of the zygomatic bone, M... |
ORPHA:742 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr... |
OMIM:613876 |
Joubert Syndrome 35 |
|
Renal fibrosis, Highly arched eyebrow, Multicystic kidney dysplasia, Depressed nasal bridge, Recu... |
OMIM:618161 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria, Hypertension |
ORPHA:2820 |
Hajdu-Cheney Syndrome |
|
Aortic valve stenosis, Micrognathia, Ventricular septal defect, Generalized hirsutism, Absent fro... |
ORPHA:955 |
Mandibulofacial Dysostosis With Alopecia |
|
Wide nasal bridge, Preauricular skin tag, Hypoplasia of the maxilla, Alopecia, Hydroureter, Preau... |
OMIM:616367 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Muscular dystrophy, Left ventricular systolic dysfunction, Cryptorchidism, Left ventricular hyper... |
OMIM:613156 |
Alagille Syndrome 2 |
|
Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,... |
OMIM:610205 |
Alpha-Heavy Chain Disease |
|
Ascites, Hepatomegaly, Splenomegaly, Lymphoma |
ORPHA:100025 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Hypoplasia of the zygomatic bone, Under... |
ORPHA:1968 |
Cohen Syndrome |
|
Preauricular skin tag, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Long eyelashe... |
ORPHA:193 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Ventricular sep... |
OMIM:613404 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Dilation of Virchow-Robin spaces, Transient ischemic attack, Stroke, Lacunar stroke, Hypertension |
OMIM:616779 |
Lowry-Maclean Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Retrognathia, Bilateral cryptorchidism, Atrioventricu... |
ORPHA:2409 |
Bamforth-Lazarus Syndrome |
|
Choanal atresia, Retrognathia, Congenital hypothyroidism, Thyroid agenesis, Abnormal hair quantity |
ORPHA:1226 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Coarse hair, Preauricular pit... |
ORPHA:1786 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Ascites, Hepatomegaly, Esophageal neoplasm |
ORPHA:2198 |
Ovarian Fibroma |
|
Ascites, Pleural effusion, Ovarian fibroma, Odontogenic keratocysts of the jaw, Basal cell carcinoma |
ORPHA:314473 |
Distal Duplication 18Q |
|
Choanal atresia, Carious teeth, Camptodactyly of finger, Anteverted nares, Micrognathia, Prominen... |
ORPHA:1716 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Anteverted nares, Hypoplasia of the zygomatic bone, Wide nose |
ORPHA:3074 |
Fabry Disease |
|
Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,... |
OMIM:301500 |
Congenital Pulmonary Lymphangiectasia |
|
Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Hydrops fetalis, Chylopericardium |
ORPHA:2414 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Wide nasal bridge, Hypoplasia of the zygomatic bone, Cryptorchidism, Low posterior hairline, Mand... |
ORPHA:1778 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Proximal muscle weakness in lower limbs, Aortic root aneurysm, Urinary bladder wall hypertrophy, ... |
ORPHA:280633 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial... |
OMIM:613874 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p... |
OMIM:178600 |
Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidney d... |
OMIM:267010 |
Edinburgh Malformation Syndrome |
|
Choanal atresia, Anteverted nares, Micrognathia, Hirsutism, Low posterior hairline, Generalized h... |
ORPHA:1895 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Dilatation of the renal pelvis, Micrognathia, Dilatation of the bladder, Ventricular septal defec... |
OMIM:265380 |
Dysostosis, Stanescu Type |
|
Hypoplasia of the maxilla, Carious teeth, Midface retrusion, Hypoplasia of the zygomatic bone, Ab... |
ORPHA:1798 |
Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... |
ORPHA:1686 |
Pituitary Gigantism |
|
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Hypertrophic car... |
ORPHA:99725 |
Skraban-Deardorff Syndrome |
|
Depressed nasal bridge, Sparse lateral eyebrow, Hyperplasia of the maxilla, Thick upper lip vermi... |
OMIM:617616 |
Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
Johnson Neuroectodermal Syndrome |
|
Sparse hair, Choanal atresia, Alopecia, Carious teeth, Anosmia, Tetralogy of Fallot, Bulbous nose... |
ORPHA:2316 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Internal hemor... |
ORPHA:335 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Wide nasal bridge, Penoscrotal transposition, Choanal atresia, Delayed eruption of teeth, Microgn... |
OMIM:619148 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria, Hypertension |
OMIM:189800 |
Hydrops Fetalis |
|
Generalized edema, Lymphedema, Ascites, Neoplasm, Pleural effusion, Nonimmune hydrops fetalis, Po... |
ORPHA:1041 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... |
ORPHA:86812 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Hypoplasia of the maxilla, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:166300 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, Abnorma... |
ORPHA:90065 |
Antley-Bixler Syndrome |
|
Choanal atresia, Hypoplasia of the zygomatic bone, Camptodactyly of finger, Anteverted nares, Abn... |
ORPHA:83 |
Tangier Disease |
|
Distal amyotrophy, Atherosclerosis, Facial diplegia, Splenomegaly, Nail dystrophy, Coronary arter... |
OMIM:205400 |
Treacher-Collins Syndrome |
|
Abnormal hair morphology, Micrognathia, Cryptorchidism, Absent eyelashes, Thyroid hypoplasia, Pat... |
ORPHA:861 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Myocardial infarction, Diabetes mellitus, Premature coronary artery atherosclerosis |
OMIM:608320 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... |
OMIM:612098 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... |
ORPHA:3384 |
Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Renal insufficiency, Abnormality of circulating cortisol level, Decreased circu... |
ORPHA:320 |
Weiss-Kruszka Syndrome |
|
Highly arched eyebrow, Dextrotransposition of the great arteries, Anteverted nares, Preauricular ... |
OMIM:618619 |
Isolated Succinate-Coq Reductase Deficiency |
|
Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca... |
ORPHA:3208 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Mitral regurgitation, Cryptorchidism, Ventricular septal defect, Lef... |
OMIM:615355 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... |
OMIM:161900 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Anterior p... |
ORPHA:466791 |
Nail-Patella-Like Renal Disease |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria, Hypertension |
ORPHA:2613 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
ORPHA:444013 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Abnormal mandible morphology, Cleft upper lip, Median cleft upper lip, Abnormal maxilla morpholog... |
ORPHA:401942 |
Congenital Aortic Valve Stenosis |
|
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... |
ORPHA:3093 |
Cardiomyopathy, Familial Hypertrophic, 30, Atrial |
|
Atrial flutter, Reduced left ventricular ejection fraction, Hypertension, Left atrial enlargement... |
OMIM:620734 |
Williams Syndrome |
|
Carious teeth, Micrognathia, Type II diabetes mellitus, Mitral regurgitation, Mitral valve prolap... |
ORPHA:904 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... |
ORPHA:1329 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... |
ORPHA:54370 |
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome |
|
Hypoplastic nasal bridge, Dilatation of the renal pelvis, Retrognathia, Left ventricular hypertro... |
OMIM:620510 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Wide nasal bridge, Choanal atresia, Bifid nasal tip, Underdeveloped nasal alae, Thin upper lip ve... |
ORPHA:521308 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Wide nasal bridge, Morgagni diaphragmatic hernia, Multiple bladder diverticula, Peripheral pulmon... |
OMIM:613177 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Ascites, Hepatomegaly, Hydrops fetalis |
OMIM:619433 |
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy |
|
Wide nasal bridge, Synophrys, Retrognathia, Low anterior hairline |
OMIM:619844 |
Malan Syndrome |
|
Midface retrusion, Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Evert... |
OMIM:614753 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... |
OMIM:613944 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... |
OMIM:615474 |
Malignant Peritoneal Mesothelioma |
|
Ascites, Neoplasm, Pedal edema |
ORPHA:168811 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia, Delayed puberty, Nephrogenic diabe... |
ORPHA:3145 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... |
OMIM:616818 |
Pulmonary Hypertension, Primary, 5 |
|
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... |
OMIM:265400 |
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Hypoplasia of the zygomatic bone, Tricuspid regurgitation, Micrognathia, Vesicoureteral reflux, V... |
OMIM:620663 |
Hepatic Veno-Occlusive Disease |
|
Ascites, Hepatomegaly |
ORPHA:890 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Short columella, Intraven... |
OMIM:613603 |
Splenoportal Vascular Anomalies |
|
Ascites, Splenomegaly |
OMIM:271500 |
Nestor-Guillermo Progeria Syndrome |
|
Micrognathia, Mitral regurgitation, Sparse eyelashes, Right atrial enlargement, Alopecia, Sparse ... |
OMIM:614008 |
Adams-Oliver Syndrome 5 |
|
Dystrophic toenail, Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Right at... |
OMIM:616028 |
Focal Segmental Glomerulosclerosis 1 |
|
Ascites, Pleural effusion, Edema |
OMIM:603278 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis, Left ventricular hypertrophy, Coronary artery atherosclerosis |
OMIM:616833 |
Andersen-Tawil Syndrome |
|
Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes, Bidirectional ventricula... |
ORPHA:37553 |
Marshall-Smith Syndrome |
|
Cryptorchidism, Prominence of the premaxilla, Ventricular septal defect, Premature ventricular co... |
OMIM:602535 |
Aortic Arch Interruption |
|
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... |
ORPHA:2299 |
Rere-Related Neurodevelopmental Syndrome |
|
Choanal atresia, Abnormal heart morphology, Anteverted nares, Micrognathia, Vesicoureteral reflux... |
ORPHA:494344 |
Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Hypertension, Splenomegaly |
OMIM:602079 |
Aapoaiv Amyloidosis |
|
Chronic kidney disease, Atrial fibrillation, Renal amyloidosis, Atrial flutter, Hypertrophic card... |
ORPHA:439232 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites |
OMIM:174050 |
Coproporphyria, Hereditary |
|
Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Hepatomeg... |
OMIM:121300 |
Ablepharon Macrostomia Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Fine hair, C... |
ORPHA:920 |
Recon Progeroid Syndrome |
|
Skeletal muscle atrophy, Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Hir... |
OMIM:620370 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Bifid nasal tip, Renal hypoplasia, Broad nasal tip, Secundum atrial septal defect, Retrognathia, ... |
OMIM:619758 |
Bronchopulmonary Dysplasia |
|
Right ventricular failure, Right ventricular hypertrophy |
ORPHA:70589 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy |
OMIM:618228 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Midshaft hypospadias, Wide nasal bridge, Delayed eruption of teeth, Camptodactyly of finger, Ante... |
ORPHA:2863 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ... |
OMIM:253700 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Wide nasal bridge, Midface retrusion, Abnormal heart morphology, Prominent nasal bridge, Cryptorc... |
ORPHA:401935 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Wide nasal bridge, Midface retrusion, Anteverted nares, Micrognathia, Renal insufficiency, Crypto... |
OMIM:611209 |
Mucopolysaccharidosis, Type X |
|
Aortic valve stenosis, Aortic regurgitation, Wide nasal bridge, Thickened aortic valve cusp, Neph... |
OMIM:619698 |
Takayasu Arteritis |
|
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ar... |
ORPHA:3287 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Premature coronary artery atherosclerosis, Type II diabetes mellitus, Hypertension, Sudden cardia... |
OMIM:610947 |
Cleidocranial Dysplasia |
|
Depressed nasal bridge, Carious teeth, Midface retrusion, Hypoplasia of the zygomatic bone, Delay... |
ORPHA:1452 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Wide nasal bridge, Hypoplasia of the maxilla, Bilateral choanal atresia, Cleft upper lip, Sparse ... |
OMIM:106260 |
Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... |
OMIM:163800 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Aortic root aneurysm, Abnormal heart valve morphology, Tricuspid regurgitat... |
ORPHA:230851 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
Distal 17P13.1 Microdeletion Syndrome |
|
Prominent nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia |
ORPHA:319171 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Ascites, Oligohydramnios, Polyhydramnios, Splenomegaly |
ORPHA:1046 |
Gapo Syndrome |
|
Choanal atresia, Mandibular prognathia, Alopecia, Sparse eyebrow, Delayed eruption of teeth, Depr... |
ORPHA:2067 |
Fg Syndrome Type 1 |
|
Small pituitary gland, Choanal atresia, Prominent nose, Micrognathia, Frontal upsweep of hair, Ma... |
ORPHA:93932 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy |
OMIM:614458 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... |
ORPHA:567544 |
Autosomal Recessive Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Retrognathia, Abnormal heart valve morphology, Facial... |
ORPHA:169186 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect,... |
OMIM:312870 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... |
ORPHA:1345 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur... |
OMIM:614473 |
Secondary Intestinal Lymphangiectasia |
|
Anasarca, Lymphoma, Lymphedema, Pleural effusion, B-cell lymphoma, Chylous ascites, Intestinal ly... |
ORPHA:90363 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Intellectual Disability, Wolff Type |
|
Wide nasal bridge, Microretrognathia, Camptodactyly of finger, Thick lower lip vermilion, Bulbous... |
ORPHA:3080 |
Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Frontal hirsutism, Retrognathia, Anteverted na... |
OMIM:608149 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid artery dilatation... |
ORPHA:91387 |
Aicardi-Goutieres Syndrome 9 |
|
Thickened glomerular basement membrane, Recurrent urinary tract infections, Hyperechogenic kidney... |
OMIM:619487 |
Alagille Syndrome |
|
Peripheral pulmonary artery stenosis, Abnormality of the ureter, Micrognathia, Cryptorchidism, Ve... |
ORPHA:52 |
Pfeiffer Syndrome |
|
Wide nasal bridge, Mandibular prognathia, Hypoplasia of the zygomatic bone |
ORPHA:710 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Maxillozygomatic hypoplasia, Malar flattening, Delayed eruption of teeth |
ORPHA:2972 |
Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Mitral ... |
ORPHA:730 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Choanal atresia, Preauricular skin tag, Renal agenesis, Retrognathia, ... |
OMIM:619227 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Generalized hir... |
OMIM:612949 |
Werner Syndrome |
|
Premature graying of hair, Neoplasm of the oral cavity, White forelock, Type II diabetes mellitus... |
ORPHA:902 |
Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p... |
ORPHA:57777 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Renal insufficiency, Abnormal aortic morphology, Arrhythmia, Hypertension |
ORPHA:3222 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Midface retrusion, Bulbous nose, Thick eyebrow, Thin upper lip vermili... |
OMIM:618737 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Hypoplasia of the zygomatic bone, Malar prominence, Renal insufficiency, Proteinuria, Glomerulopa... |
ORPHA:2715 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Ketonuria, Left ventricular noncompaction, Tricuspid regurgitation, Left ... |
OMIM:619167 |
Vici Syndrome |
|
Depressed nasal bridge, Dilated cardiomyopathy, Everted upper lip vermilion, Cardiomyopathy, Cong... |
OMIM:242840 |
3Mc Syndrome 2 |
|
Wide nasal bridge, Highly arched eyebrow, Hypoplasia of the musculature, Cleft upper lip, Horsesh... |
OMIM:265050 |
Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom... |
ORPHA:2260 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi... |
OMIM:613237 |
Familial Cervical Artery Dissection |
|
Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach... |
ORPHA:36382 |
Desmoplastic Small Round Cell Tumor |
|
Ascites, Testicular neoplasm, Hepatomegaly, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, ... |
ORPHA:83469 |
Grange Syndrome |
|
Aortic regurgitation, Arterial stenosis, Ventricular septal defect, Hypertension, Patent ductus a... |
ORPHA:79094 |
Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Wide nasal bridge, Broad nasal tip, Retrognathia, Micrognathia, Congenit... |
OMIM:615524 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Wide nasal bridge, Micrognathia, Cryptorchidism, Abnormal cardiac septum morphology, Micropenis, ... |
OMIM:612626 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Coronary artery atherosclerosis, Polycystic ovaries, Hepatomegaly, Hypertension... |
ORPHA:79084 |
Mogs-Cdg |
|
Alopecia, Retrognathia, Fair hair, Hepatosplenomegaly, Long eyelashes, Hirsutism, Cardiomegaly, L... |
ORPHA:79330 |
Joubert Syndrome 14 |
|
Highly arched eyebrow, Prominent nasal bridge, Tented upper lip vermilion, Malar flattening, Vent... |
OMIM:614424 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... |
ORPHA:268 |
Sweeney-Cox Syndrome |
|
Wide nasal bridge, Choanal atresia, Broad nasal tip, Midface retrusion, Underdeveloped nasal alae... |
OMIM:617746 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Narrow nasal bridg... |
OMIM:300967 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension |
OMIM:607832 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... |
ORPHA:555874 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Rib exostoses, Carious teeth, Hyperplasia of the maxilla, Micrognathia, Bicuspid aortic valve, Os... |
OMIM:150230 |
Developmental And Epileptic Encephalopathy 111 |
|
Hypoplastic left heart, Midface retrusion, Sinus tachycardia, Biventricular hypertrophy, Long eye... |
OMIM:620504 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Midface retrusion, Shor... |
ORPHA:1248 |
Methimazole Embryofetopathy |
|
Choanal atresia, Abnormality of the thyroid gland, Abnormal aortic morphology, Ventricular septal... |
ORPHA:1923 |
Microform Holoprosencephaly |
|
Choanal atresia, Renal agenesis, Tetralogy of Fallot, Panhypopituitarism, Narrow nasal bridge, An... |
ORPHA:280200 |
Cranioectodermal Dysplasia 2 |
|
Wide nasal bridge, Depressed nasal bridge, Sparse eyebrow, Midface retrusion, Retrognathia, Micro... |
OMIM:613610 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Renal amyloidosis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syn... |
OMIM:105200 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Epistaxis, Second degree atrioventricular block, Hyperaldosteronism, Adr... |
ORPHA:369929 |
Fabry Disease |
|
Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Nephrotic syndrome, Hypertrophic cardio... |
ORPHA:324 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... |
OMIM:613873 |
Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... |
ORPHA:99106 |
Sialidosis Type 2 |
|
Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis, Pedal edema |
ORPHA:87876 |
Aarskog-Scott Syndrome |
|
Wide nasal bridge, Hypoplasia of the maxilla, High anterior hairline, Delayed eruption of teeth, ... |
ORPHA:915 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Wide nasal bridge, Broad eyebrow, Hypoplasia of the maxilla, Synophrys |
OMIM:618302 |
Mulibrey Nanism |
|
Wide nasal bridge, Depressed nasal bridge, Dental malocclusion, Congestive heart failure, Wide no... |
OMIM:253250 |
Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Mandibular prognathia, Hypotension, Elevated c... |
ORPHA:439822 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Choanal atresia, Preauricular skin tag, Midface retrusion, Anteverted nares, Micrognathia, Malar ... |
OMIM:610536 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... |
OMIM:161950 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Choanal atresia, Micrognathia, Arthrogryposis multiplex congenita, Prominent nasal bridge |
OMIM:615095 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Wide nasal bridge, Highly arched eyebrow, Hypoplasia of the maxilla, Broad nasal tip, Retrognathi... |
OMIM:620157 |
Idiopathic Pulmonary Arterial Hypertension |
|
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... |
ORPHA:275766 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Hypoplasia of the maxilla, Broad nasal tip, Recurrent upper respiratory tract infectio... |
ORPHA:293939 |
Woods Syndrome |
|
Wide nasal bridge, Supernumerary nipple, Ventricular septal defect, Frontal hirsutism, Low hangin... |
OMIM:615236 |
Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hypertension, Glomeru... |
ORPHA:84090 |
Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... |
ORPHA:1457 |
Posterior Urethral Valve |
|
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... |
ORPHA:93110 |
Morbid Obesity And Spermatogenic Failure |
|
Premature coronary artery atherosclerosis, Congestive heart failure, Type II diabetes mellitus, H... |
OMIM:615703 |
Pallister-Hall Syndrome |
|
Natal tooth, Cryptorchidism, Ventricular septal defect, Ectopic kidney, Patent ductus arteriosus,... |
OMIM:146510 |
Charge Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Choanal atresia, Tetralogy of Fallot, Aortic arch aneur... |
ORPHA:138 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Wide nasal bridge, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Thin upper lip vermilion, P... |
ORPHA:3304 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Malar flattening, Convex nasal ridge |
ORPHA:93262 |
Fontaine Progeroid Syndrome |
|
Micrognathia, Cryptorchidism, Low posterior hairline, Bicuspid aortic valve, Atrial septal defect... |
OMIM:612289 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Pulmon... |
ORPHA:98915 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Abnormality of the hypothalamus-pituitary axis, Micrognathia, Crypt... |
ORPHA:2166 |
Filippi Syndrome |
|
Wide nasal bridge, Underdeveloped nasal alae, Hypertrichosis, Serrated incisors, Cryptorchidism, ... |
OMIM:272440 |
Ovarian Fibrothecoma |
|
Ascites, Pleural effusion, Diffuse leiomyomatosis, Ovarian fibroma, Fibrosarcoma |
ORPHA:314478 |
Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy |
OMIM:620145 |
Hurler Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Cardiomyopathy, Camptodactyly of finger, Abnormal hear... |
ORPHA:93473 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Aortic root aneurysm, Generalized arterial tortuosity, Micrognathia, Congenital diaphragmatic her... |
OMIM:614437 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Hypertrichosis, Bulbous nose, Promine... |
OMIM:300968 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Wide nasal bridge, Underdeveloped nasal alae, Cleft ala nasi, Convex nasal ridge, Non-midline cle... |
ORPHA:2007 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Depressed nasal bridge, Anteverted nares, Cardiomegaly, Pulmonary arterial hypertension, Vascular... |
OMIM:613320 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Vasculitis, Nasal polyposis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal peri... |
ORPHA:183 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Broad nasal tip, Retrognathia, ... |
OMIM:613792 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Wide nasal bridge, Highly arched eyebrow, Joint contracture of the hand, Congenital contracture, ... |
ORPHA:352490 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Elevated circulating parath... |
OMIM:122860 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Malar flattening, Hypoplasia of the zygomatic bone |
OMIM:248390 |
Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Highly arched eyebrow, Wide nasal bridge, Midface retrusion, Retrognathia,... |
OMIM:243310 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Wide nasal base, Broad nasal tip, Broad columella, Anteverted nares, Thin upper lip vermilion, Pa... |
OMIM:617763 |
Megabladder, Congenital |
|
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... |
OMIM:618719 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Wide nasal bridge, Highly arched eyebrow, Ketonuria, Bilateral superior vena cava, Midface retrus... |
OMIM:220111 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Sparse pubic hair, Hypoplasia of the maxilla, Pelvic girdle muscle atrophy, Elevated circulating ... |
ORPHA:3044 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo... |
ORPHA:1529 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Ascites, Hepatomegaly |
OMIM:301045 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Wide nasal bridge, Bifid nasal tip, Frontal upsweep of hair, Retrognathia |
OMIM:300983 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
Sneddon Syndrome |
|
Ischemic stroke, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Hypertension |
OMIM:182410 |
Arterial Tortuosity Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Aortic root aneurysm, Gener... |
OMIM:208050 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thin vermilion border, Thick eyebrow, Hypoplasia of the zygomatic bone, Fine hair |
OMIM:614800 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hypoplasia of the maxilla, Narrow nose, Narrow nasal bridge, Micrognathia, Prominent nasal bridge... |
OMIM:309520 |
Carpenter Syndrome 1 |
|
Precocious puberty, Depressed nasal bridge, Joint contracture of the hand, Hypoplasia of the maxi... |
OMIM:201000 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Wide nasal bridge, Hypospadias, Hypoplasia of the maxilla, Abnormal heart morphology, Cryptorchid... |
OMIM:601499 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Highly arched eyebrow, Choanal atresia, Underdeveloped nasal alae, Camptoda... |
ORPHA:261330 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Highly arched eyebrow, Hypoplasia of the maxilla, Wide nasal bridge, Bulbou... |
OMIM:609460 |
Cornelia De Lange Syndrome 1 |
|
Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect, Low pos... |
OMIM:122470 |
Lujan-Fryns Syndrome |
|
Hypoplasia of the maxilla, Camptodactyly of finger, Micrognathia, Prominent nasal bridge, Atrial ... |
ORPHA:776 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... |
OMIM:617168 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy, Low anterior hairline |
OMIM:613153 |
Hypomandibular Faciocranial Dysostosis |
|
Midface retrusion, Anteverted nares, Choanal stenosis, Atrial septal defect, Maxillozygomatic hyp... |
ORPHA:1790 |
Monosomy 18P |
|
Wide nasal bridge, Alopecia, Carious teeth, Micrognathia, Low posterior hairline, Hypothyroidism,... |
ORPHA:1598 |
German Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Midface retrusion, Camptodactyly of finger, Tetralogy ... |
ORPHA:2077 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Alopecia universalis, Pulmonary carcinoid tumor, ... |
ORPHA:363618 |
Lessel-Kreienkamp Syndrome |
|
Wide nasal bridge, Dental malocclusion, Patent foramen ovale, Thin upper lip vermilion, Bicuspid ... |
OMIM:619149 |
C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... |
ORPHA:329918 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Depressed nasal bridge, Microretrognathia, Aortic root aneurysm, Midface retrusion, Elbow flexion... |
OMIM:245600 |
Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Broad nasal t... |
ORPHA:1830 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Wide nasal bridge, Abnormal hair whorl, Small hypothenar eminence, Plantar flexion contracture, C... |
ORPHA:2872 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Choanal atresia, Depressed nasal bridge, Midface retrusion, Malar flattening, Abnormal renal morp... |
OMIM:207410 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Polycystic ovaries, Calf muscle hypertrophy, Abnormal circulating hormone conce... |
ORPHA:280356 |
Lymphoproliferative Syndrome 2 |
|
Lymphoma, Ascites, Hepatosplenomegaly, Splenomegaly, Hodgkin lymphoma, Hepatomegaly, Lymphoprolif... |
OMIM:615122 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegal... |
OMIM:617713 |
Zimmermann-Laband Syndrome 3 |
|
Wide nasal bridge, Facial hypertrichosis, Broad nasal tip, Hypertrichosis, Thick lower lip vermil... |
OMIM:618658 |
Treacher Collins Syndrome 2 |
|
Choanal atresia, Microretrognathia, Hypoplasia of the zygomatic bone, Retrognathia, Preauricular ... |
OMIM:613717 |
Hypomandibular Faciocranial Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Choanal stenosis, Atrial septal defect... |
OMIM:241310 |
Frontofacionasal Dysplasia |
|
Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Midface retrusio... |
ORPHA:1791 |
Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... |
OMIM:602088 |
Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Wide nasal bridge, Depressed nasal bridge, Coarse hair, Eleva... |
OMIM:242900 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Highly arched eyebrow, Dilated cardiomyopathy, Broad nasal tip, Type II dia... |
ORPHA:401923 |
Tonne-Kalscheuer Syndrome |
|
Wide nasal bridge, Fine hair, Abnormal heart morphology, Decreased testicular size, Prominent nos... |
OMIM:300978 |
Noonan Syndrome 10 |
|
Sparse eyebrow, Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular ... |
OMIM:616564 |
Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Choanal atresia, Micrognathia, Absent gallbladder, Cryptorchidism, Ventr... |
OMIM:300712 |
Pparg-Related Familial Partial Lipodystrophy |
|
Prominent veins on trunk, Congestive heart failure, Hypertrophic cardiomyopathy, Atherosclerosis,... |
ORPHA:79083 |
Sneddon Syndrome |
|
Nephropathy, Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Carious teeth, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Duplicated... |
OMIM:604292 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Micrognathia, Vesicoureteral reflux, Congenital diaphragmatic hernia, Abnorm... |
ORPHA:1166 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Mitral valve prolapse, Short nose |
ORPHA:90653 |
Perlman Syndrome |
|
Wide nasal bridge, Retrognathia, Abnormal pancreas morphology, Capillary hemangioma, Anteverted n... |
ORPHA:2849 |
Preeclampsia |
|
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Type I diabetes me... |
ORPHA:275555 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the zygomatic bone, Micrognathia, Congenital diaphragmatic hernia, Abnormality of t... |
ORPHA:958 |
Zechi-Ceide Syndrome |
|
Wide nasal bridge, Midface retrusion, Abnormal heart morphology, Postauricular skin tag, Atrial s... |
ORPHA:217017 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia, Microretrognathia, Hypoplasia of the maxilla, Nail dystrophy, Camptodactyly |
OMIM:246560 |
Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Hypertension |
ORPHA:1879 |
Distal Deletion 12Q |
|
Micrognathia, Ectopic kidney, Polycystic kidney dysplasia, Patent ductus arteriosus, Congenital h... |
ORPHA:96149 |
Diamond-Blackfan Anemia 10 |
|
Choanal atresia, Morgagni diaphragmatic hernia, Micrognathia, Congenital diaphragmatic hernia, Re... |
OMIM:613309 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Hypoplasia of the maxilla, Camptodactyly of finger, Decreased testicular size, Prominent nasal br... |
ORPHA:85279 |
Bladder Cancer |
|
Transitional cell carcinoma of the bladder, Bladder neoplasm |
OMIM:109800 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Choanal atresia, Retrognathia, Prominent nasal bridge, Ventricular septal defect, Patent ductus a... |
ORPHA:52055 |
Dental Anomalies And Short Stature |
|
Hypoplasia of the maxilla, Hypertrichosis, Mitral valve prolapse, Amelogenesis imperfecta, Mandib... |
OMIM:601216 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Depressed nasal bridge, Sparse eyebrow, Underdeveloped nasal ... |
OMIM:619127 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Choanal atresia |
OMIM:613611 |
Portal Hypertension, Noncirrhotic, 2 |
|
Ascites, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
OMIM:619463 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Thin vermilion border, Hypoplasia of the maxilla, Convex nasal ridge |
OMIM:156510 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Microretrognathia, Hyper... |
OMIM:617253 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Facial hypotonia, Hyperplasia of the maxilla |
OMIM:618383 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased urine alpha-ketoglutarate concentration, Ketonuria, Dicarboxylic aciduria, Congestive h... |
OMIM:619355 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul... |
ORPHA:99094 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Dilatation of the renal pelvis, Adrenal hyperplas... |
ORPHA:95699 |
Apert Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Mandibular prognathia, Depressed nasal bridge, Delaye... |
ORPHA:87 |
8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Wide nasal bridge, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atri... |
ORPHA:251071 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Midface retrusion, Convex nasal ridge |
ORPHA:207 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Choanal atresia, Retrognathia, Bilateral cryptorchidism, Prominent nasal bridge, Ventricular sept... |
OMIM:300472 |
Pentasomy X |
|
Wide nasal bridge, Camptodactyly of finger, Micrognathia, Delayed puberty, Abnormal cardiac septu... |
ORPHA:11 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Ascites, Pericardial effusion, Oligohydramnios, Pleural effusion |
OMIM:614702 |
Fetal Akinesia Deformation Sequence 4 |
|
Wide nasal bridge, Skeletal muscle atrophy, Retrognathia, Micrognathia, Cryptorchidism, Camptodac... |
OMIM:618393 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Hypertension |
ORPHA:3156 |
Atypical Werner Syndrome |
|
Aortic valve stenosis, Aortic valve calcification, Neoplasm of the skin, Insulin-resistant diabet... |
ORPHA:79474 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Choanal atresia, Underdeveloped nasal alae, Capillary hemangioma, Overha... |
ORPHA:163979 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Wide nasal bridge, Highly arched eyebrow, Retrognathia, Bulbous nose, Anteverted nares, Thick eye... |
OMIM:615979 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Carious teeth, Aortic root aneurysm, Narrow nose, Thin vermilion border, Congenital diaphragmatic... |
OMIM:617602 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Broad nasal tip, Midface retrusion |
ORPHA:2776 |
Kleefstra Syndrome |
|
Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Arrhythmi... |
ORPHA:261494 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Aortic valve stenosis, Depressed nasal bridge, Wide nasal bridge, Microretrognathia, Vascular dil... |
OMIM:220220 |
Viss Syndrome |
|
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis of the externa... |
OMIM:619472 |
Orofaciodigital Syndrome I |
|
Sparse hair, Wide nasal bridge, Alopecia, Carious teeth, Microretrognathia, Dry hair, Underdevelo... |
OMIM:311200 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Ascites, Pleural effusion, Palpebral edema, Hydrops fetalis |
ORPHA:69735 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Renal agenesis, Underdeveloped nasal alae, Preauricular pit, Micrognathia, Abnormal aortic morpho... |
ORPHA:2516 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Wide nasal bridge, Microretrognathia, Hypertrophic cardiomyopathy, Anteverted nares, Cryptorchidi... |
OMIM:614052 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Highly arched eyebrow, Hypoplasia of the maxilla, Microretrognathia, Tricuspid regurgitation, Ant... |
ORPHA:228396 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Hydrops fetalis, Splenomegaly, Ascites |
OMIM:269920 |
Braddock-Carey Syndrome 1 |
|
Wide nasal bridge, Multicystic kidney dysplasia, Anteverted nares, Thick vermilion border, Aortic... |
OMIM:619980 |
8Q12 Microduplication Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Vesicoureteral reflux, Ventricular septal defect, Atria... |
ORPHA:228399 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cardiomyopathy, Lower limb muscle weakness, Tricuspid regurgitation, Congestive heart failure, Mi... |
ORPHA:746 |
Verheij Syndrome |
|
Wide nasal bridge, Renal hypoplasia, Broad nasal tip, Renal agenesis, Retrognathia, Anteverted na... |
OMIM:615583 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Choanal atresia, Nephrocalcinosis, Micrognathia, Hyperphosphaturia, Knee flexion contracture, Hip... |
OMIM:156400 |
X-Linked Intellectual Disability, Porteous Type |
|
Bulbous nose, Hypoplasia of the maxilla, Mandibular prognathia, Frontal balding |
ORPHA:93945 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ... |
ORPHA:1349 |
Mucolipidosis Type Ii |
|
Abnormal atrioventricular valve physiology, Aortic regurgitation, Depressed nasal bridge, Dry hai... |
ORPHA:576 |
Suleiman-El-Hattab Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Preauricular skin tag, Microretrognathia, Thick lower l... |
OMIM:618950 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cryptorchidism, Anterior pituitary hypoplasia, Short nose, Choanal ... |
OMIM:610829 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Choanal atresia, Hypospadias, Depressed nasal bridge, Natal tooth, Midface retrusion, Preauricula... |
OMIM:123790 |
Familial Atrial Myxoma |
|
Ascites, Cardiac myxoma, Pedal edema |
ORPHA:615 |
Postaxial Acrofacial Dysostosis |
|
Choanal atresia, Cleft upper lip, Supernumerary nipple, Micrognathia, Malar flattening, Cryptorch... |
OMIM:263750 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Carious teeth, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Duplicated... |
OMIM:129900 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Type I diabetes mellitus, Mitral valve prolapse, Ventricular septal defec... |
ORPHA:371428 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Renal hypoplasia, Micrognathia, Cryptorchidism, Ventri... |
ORPHA:2256 |
Cerebrofacioarticular Syndrome |
|
Wide nasal bridge, Renal hypoplasia, Hypoplasia of the maxilla, Bilateral choanal atresia/stenosi... |
ORPHA:314679 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Midface retrusion, Atrioventricular canal defect, Complete atrioventri... |
OMIM:619142 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Midface retrusion, Recurrent urinary tract infections, Elevated circulating creatinine concentrat... |
OMIM:613095 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Choanal atresia, Midface retrusion, Aplasia/Hypoplasia involving the nose, Abnormality of the sen... |
ORPHA:1135 |
Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Hypertrichosis, Increased urinary cortisol level, Hyperaldo... |
ORPHA:1501 |
Mosaic Trisomy 14 |
|
Wide nasal bridge, Camptodactyly of finger, Anteverted nares, Micrognathia, Prominent nasal bridg... |
ORPHA:1703 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Fac... |
OMIM:300266 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Choanal atresia, Depressed nasal bridge, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:610199 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Hepatosplenomegaly, Abnormal mitral valve morphology, Arrhythmia, Wide nose, Peripheral arterial ... |
ORPHA:217085 |
Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... |
ORPHA:3342 |
Cohen Syndrome |
|
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Decreased response... |
OMIM:216550 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Mitral regurgitation, Mitral valve prolapse, Cerebral berry aneurysm, Polycy... |
OMIM:173900 |
Tempi Syndrome |
|
Ascites, Hemangioma, Transudative pleural effusion |
ORPHA:284227 |
22Q11.2 Deletion Syndrome |
|
Carious teeth, Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hyp... |
ORPHA:567 |
Meier-Gorlin Syndrome 7 |
|
Choanal atresia, Second degree atrioventricular block, Breast aplasia, Thin eyebrow, Vesicoureter... |
OMIM:617063 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal cerebral vascular morphology, Moyamoya phenomenon, Stroke, Raynaud phenomenon, Hypertension |
ORPHA:401945 |
Osteoglosphonic Dysplasia |
|
Choanal atresia, Anteverted nares, Micrognathia, Cryptorchidism, Multiple unerupted teeth |
ORPHA:2645 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Hepatosplenomegaly, Abnormal mitral valve morphology, Arrhythmia, Wide nose, Peripheral arterial ... |
ORPHA:217093 |
Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Abnormality of the kidney, Nephrotic syndrome, Multiple myeloma, Vasc... |
ORPHA:91139 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Oligosacchariduria, Hypertrophic cardiomyopathy, Facial hypotonia, Heart murmur, Shortened PR int... |
ORPHA:308552 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Wide nasal bridge, Hypoplasia of the maxilla, Skeletal muscle atrophy, Limb muscle weakness, Faci... |
OMIM:218000 |
Alport Syndrome |
|
Thickened glomerular basement membrane, IgA deposition in the glomerulus, Renal glomerular foam c... |
ORPHA:63 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Preauricular skin tag, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Atrial septal d... |
ORPHA:79113 |
Opitz-Kaveggia Syndrome |
|
Choanal atresia, Joint contracture of the hand, Fine hair, Cleft upper lip, Abnormal heart morpho... |
OMIM:305450 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Choanal atresia, Anosmia, Cleft upper lip, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed... |
OMIM:147950 |
Diamond-Blackfan Anemia 7 |
|
Choanal atresia, Small hypothenar eminence, Secundum atrial septal defect, Horseshoe kidney, Tetr... |
OMIM:612562 |
Teebi Hypertelorism Syndrome 1 |
|
Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Natal tooth, Aortic root aneury... |
OMIM:145420 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... |
OMIM:264800 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Ascites |
ORPHA:858 |
Blepharocheilodontic Syndrome 1 |
|
Choanal atresia, High anterior hairline, Cleft upper lip, Distichiasis, Sparse hair |
OMIM:119580 |
8Q22.1 Microdeletion Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Hypoplasia of the maxilla, Sparse eyebrow, Depressed na... |
ORPHA:178303 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Renal artery stenosis, Carot... |
OMIM:208000 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Nephrocalcinosis, Restrictive cardiomyopathy, Abnormal cerebral vasc... |
ORPHA:758 |
Acitretin/Etretinate Embryopathy |
|
Hypoplastic nasal septum, Preauricular skin tag, Third degree atrioventricular block, Atrioventri... |
ORPHA:40366 |
Rapp-Hodgkin Syndrome |
|
Sparse hair, Depressed nasal bridge, Hypoplasia of the maxilla, Carious teeth, Sparse eyebrow, De... |
OMIM:129400 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Arrhythmia, Pancreatic islet cell adenoma, Elevated circula... |
ORPHA:892 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Stress ... |
ORPHA:136 |
Alazami Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Malar flattening, Thick vermilion border, Retractile t... |
OMIM:615071 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Decreased serum estradiol, Streak ovary, Renal insufficiency,... |
ORPHA:347 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Lung adenocarcinoma, Proteinuria, Tubu... |
OMIM:618913 |
Myhre Syndrome |
|
Abnormal penis morphology, Precocious puberty, Hypoplasia of the maxilla, Mandibular prognathia, ... |
ORPHA:2588 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Wide nasal bridge, Depressed nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Low ante... |
OMIM:615761 |
Marcus-Gunn Syndrome |
|
Abnormal heart morphology, Choanal atresia, Abnormality of the sense of smell, Nephrolithiasis |
ORPHA:91412 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Choanal atresia, Hypothyroidism, Cryptorchidism |
OMIM:613970 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... |
OMIM:614980 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Highly arched eyebrow, Wide nasal bridge, Depressed nasal bridge, Hypertr... |
OMIM:618316 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Coarctation of aorta, Long eyelashes, Hypertension |
OMIM:616069 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Nablus Mask-Like Facial Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Joint contracture of the hand, Hypoplasia of the maxill... |
OMIM:608156 |
Glycogen Storage Disease Iv |
|
Ascites, Hepatosplenomegaly, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:232500 |
Duane-Radial Ray Syndrome |
|
Choanal atresia, Renal hypoplasia, Renal agenesis, Horseshoe kidney, Pectoralis hypoplasia, Cross... |
OMIM:607323 |
Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Cardiomyopathy, Situs inversus totalis, Cryptorchidism, Ventricular septal defect,... |
OMIM:249270 |
Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Choanal atresia, Anteverted nares, Macroglossia, Short nose |
ORPHA:1914 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Wide nasal bridge, Depressed nasal bridge, Midface retrusion, Retrognathia, Bulbous nose, Microgn... |
OMIM:617061 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Second degree atrioventricular block, Ventricular septal defect, Hematuria, Overriding aorta, Pul... |
OMIM:617021 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Arterial dissection, Dental malocclusion, Retrognathia, Aortic dissection, ... |
ORPHA:284984 |
Martsolf Syndrome 1 |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Cardiomyopathy, Congestive he... |
OMIM:212720 |
Marshall-Smith Syndrome |
|
Choanal atresia, Retrognathia, Anteverted nares, Generalized hirsutism, Short nose |
ORPHA:561 |
Developmental And Epileptic Encephalopathy 66 |
|
Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Cryptorchidism, Ventricula... |
OMIM:618067 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Myopathy, Tubulointe... |
ORPHA:85450 |
Axenfeld-Rieger Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Midface retrusion, Everted ... |
ORPHA:782 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Alopecia totalis, Mic... |
ORPHA:740 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Hydrops fetalis, Splenomegaly, Ascites |
ORPHA:834 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Sparse eyebrow, Lipomas of ... |
OMIM:167730 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Microphthalmia, Syndromic 9 |
|
Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect, Atrial ... |
OMIM:601186 |
Extracranial Carotid Artery Aneurysm |
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Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Ather... |
ORPHA:494424 |
Coach Syndrome 1 |
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Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Anteverted nar... |
OMIM:216360 |
Polyarteritis Nodosa |
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Cardiomyopathy, Raynaud phenomenon, Abnormality of the kidney, Hypertension, Pericarditis |
ORPHA:767 |
Bardet-Biedl Syndrome 1 |
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Hypogonadism, Decreased testicular size, Abnormality of the ovary, Hirsutism, Left ventricular hy... |
OMIM:209900 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Limb muscle weakness, Myopathy, Arrhythmia, Hypomimic face, Quadriceps muscle weakness, Goiter, P... |
ORPHA:254892 |
Holoprosencephaly 7 |
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Wide nasal bridge, Hypoplastic nasal septum, Hypoplasia of the premaxilla, Midface retrusion, Uni... |
OMIM:610828 |
Andersen Cardiodysrhythmic Periodic Paralysis |
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Hypoplasia of the maxilla, Prominent U wave, Prolonged QTc interval, Bulbous nose, Persistence of... |
OMIM:170390 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
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Wide nasal bridge, Broad nasal tip, Thin upper lip vermilion, Ventricular septal defect |
OMIM:620393 |
Pseudomyxoma Peritonei |
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Ascites |
ORPHA:26790 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
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Wide nasal bridge, Highly arched eyebrow, Depressed nasal bridge, Anteverted nares, Micrognathia,... |
OMIM:615834 |
Myhre Syndrome |
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Aortic valve stenosis, Hypoplasia of the maxilla, Mandibular prognathia, Midface retrusion, Fine ... |
OMIM:139210 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
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Hypospadias, Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol conce... |
OMIM:201910 |
Brachydactyly-Arterial Hypertension Syndrome |
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Hypertension |
ORPHA:1276 |
Rhabdoid Tumor |
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Hematuria, Neoplasm of the liver, Internal hemorrhage, Renal neoplasm, Sarcoma, Hypertension, Neo... |
ORPHA:69077 |
Smooth Muscle Dysfunction Syndrome |
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Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Cryptorchid... |
OMIM:613834 |
Smith-Magenis Syndrome |
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Wide nasal bridge, Abnormality of the urinary system, Midface retrusion, Everted upper lip vermil... |
OMIM:182290 |
Lipodystrophy, Familial Partial, Type 1 |
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Insulin-resistant diabetes mellitus, Coronary artery atherosclerosis, Prominent superficial veins... |
OMIM:608600 |
Alkaptonuria |
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Aminoaciduria, Aortic valve stenosis, Aortic valve calcification, Elevated urinary homogentisic a... |
ORPHA:56 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Type II diabetes mellitus, Hyperinsulinemia, Hypertension |
ORPHA:71529 |
Zaki Syndrome |
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Wide nasal bridge, Preauricular skin tag, Sparse eyebrow, Renal agenesis, Sparse lateral eyebrow,... |
OMIM:619648 |
3C Syndrome |
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Aortic valve stenosis, Hypoplastic left heart, Wide nasal bridge, Depressed nasal bridge, Preauri... |
ORPHA:7 |
Acquired Generalized Lipodystrophy |
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Cardiomyopathy, Insulin-resistant diabetes mellitus, Lymphoma, Hyperinsulinemia, Abnormal cardiov... |
ORPHA:79086 |
Scalp-Ear-Nipple Syndrome |
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Unilateral renal agenesis, Renal hypoplasia, Sparse pubic hair, Depressed nasal bridge, Fine hair... |
OMIM:181270 |
Non-Functioning Paraganglioma |
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Paraganglioma of head and neck, Elevated urinary dopamine level, Elevated urinary norepinephrine ... |
ORPHA:94080 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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Abnormal external nose morphology, Neonatal insulin-dependent diabetes mellitus, Hypoplasia of th... |
ORPHA:556955 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
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Wide nasal bridge, Retrognathia, Cryptorchidism, Thin upper lip vermilion, Everted lower lip verm... |
OMIM:619595 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Hyperinsulinemia, Myopathy, Generalized hirsutism, Hepatomegaly, Hypertension |
ORPHA:363400 |
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
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Dry hair, Myofiber disarray, Mitral regurgitation, Ventricular septal defect, Woolly scalp hair, ... |
OMIM:620519 |
Pseudo-Torch Syndrome 3 |
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Acute kidney injury, Proteinuria, Cardiomegaly, Cerebral hemorrhage, Hypertension |
OMIM:618886 |
Rafiq Syndrome |
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Wide nasal bridge, Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Bulbous nose, P... |
OMIM:614202 |
Keipert Syndrome |
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Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Tented upper lip vermi... |
ORPHA:2662 |