Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Increased circulati... |
ORPHA:766 |
Pentosuria |
|
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... |
ORPHA:2843 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... |
OMIM:615285 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Hypertro... |
ORPHA:295 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Anteverted nares, Premature birth, Cardiomegaly, Conjugated hyperbilirubinemia, Spl... |
OMIM:269920 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... |
OMIM:613673 |
Mulibrey Nanism |
|
Hepatomegaly, Frontal bossing, Wide nose, Depressed nasal bridge, Short stature, Cardiomegaly, Co... |
OMIM:253250 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... |
OMIM:616860 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Myh9-Related Disease |
|
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Abnormality of the kidney, Giant platelets, Macrothrombocytopenia, Ne... |
OMIM:155100 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Hepatosplenomegaly, Anemia, Biventricular hypertrophy, Telangiectasia, Ab... |
ORPHA:101028 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Frontal bossing, Depressed nasal bridge, Short st... |
ORPHA:79076 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poiki... |
OMIM:615631 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Congenital Heart Block |
|
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... |
ORPHA:60041 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Rectal prolapse, Hematochezia, Anemia, Decreased body weight, Abnormality of body h... |
ORPHA:209964 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormality of the amnioti... |
OMIM:608540 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... |
ORPHA:2414 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Hydrops fetalis, Fetal pericardial eff... |
OMIM:619462 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Decreased fetal movement, Anteverted nares, Depressed nasal bridge, F... |
ORPHA:85212 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis, Anemia |
OMIM:236750 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Microcytic anemia, Abnormality of the menstrual... |
ORPHA:90308 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f... |
ORPHA:163596 |
Hydrops Fetalis |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Nonimmune hydrops fetalis, ... |
ORPHA:1041 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Overriding aorta, ... |
OMIM:617021 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce... |
OMIM:210250 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Unconjugated hyperbili... |
OMIM:300908 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... |
OMIM:618052 |
Glycogen Storage Disease Iv |
|
Decreased fetal movement, Failure to thrive, Portal hypertension, Edema, Polyhydramnios, Esophage... |
OMIM:232500 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Premature birth, Hydrops fetalis, Cardiomyopathy, Atrial septal defect... |
ORPHA:1909 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Pulmonic stenosi... |
OMIM:619433 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Lymphedema, Periorbital edema, Rectal prolapse, Protein-losing... |
OMIM:235510 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Hyperalaninemia, Nonimmune hydrops fetalis, Hyperprolinemia, Cardiomyopathy, Neonatal death, Pulm... |
OMIM:619003 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
Neuraminidase Deficiency |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenomegaly, Va... |
OMIM:256550 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Ventricular septal defect, Anteverted nares, Cardiomegaly, Polyhydramn... |
OMIM:616897 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Hydrops fetalis, A... |
ORPHA:45452 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... |
OMIM:619902 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Single umbilical ... |
ORPHA:3405 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic kidneys, Enlarged kidney |
OMIM:613885 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Hydrops fetalis |
ORPHA:2204 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Congenital Enterovirus Infection |
|
Fetal ascites, Polyhydramnios, Hydrops fetalis, Leukopenia, Hypoalbuminemia, Neutropenia, Prematu... |
ORPHA:292 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Cryptorchidism, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia, Hy... |
OMIM:618815 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... |
ORPHA:424019 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Frontal bossing, Severe short stature, Abnormal heart valve morphology, Splenomegal... |
OMIM:230500 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Col... |
OMIM:174900 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... |
OMIM:604765 |
Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Fetal akinesia sequ... |
ORPHA:367 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Myocardial infarction, Intestinal perforation, Thrombocytopenia, R... |
ORPHA:90038 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Frontal bossing, Severe short stature, Anteverted nares, Polyhydramni... |
ORPHA:93298 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Premature birth, Elevated circulating creatine kinase concentration, Nonimmune hydrops fetalis, C... |
OMIM:618839 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Achondrogenesis |
|
Thickened nuchal skin fold, Frontal bossing, Severe short stature, Anteverted nares, Polyhydramni... |
ORPHA:932 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Premature birth, Elevated circulating creatine kinase concentration, Nonimmune hydrops fetalis, N... |
OMIM:618835 |
Orotic Aciduria |
|
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Elevated circulating creatine kinase concentration, Nonimmune hydrops fetalis, C... |
OMIM:618838 |
Restrictive Dermopathy 2 |
|
Decreased fetal movement, Fetal distress, Rectal prolapse, Gastroesophageal reflux, Intrauterine ... |
OMIM:619793 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Premature birth, Hypercalcemia, Polyhydramnios, Hydrops fetalis, Anemia, Ascites, T... |
ORPHA:2123 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Sialidosis Type 2 |
|
Hepatomegaly, Short stature, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites |
ORPHA:87876 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Depressed nasal bridge, Ventricular septal defect, Broad nasal ... |
OMIM:601927 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic a... |
OMIM:604273 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased fetal movement, Anteverted nares, Depressed nasal bridge, Polyhydramnios,... |
OMIM:608013 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:613313 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Frontal bossing, Abnormal erythrocyte morphology, Splenomegaly... |
ORPHA:288 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Nonimmune hydro... |
OMIM:619313 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Anteverted nares, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Burn-Mckeown Syndrome |
|
Short stature, Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Sho... |
ORPHA:1200 |
Gm1 Gangliosidosis |
|
Frontal bossing, Ventricular septal defect, Depressed nasal bridge, Short stature, Broad nasal ti... |
ORPHA:354 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Frontal bossing, Severe short stature, Anteverted nares, Polyhydramni... |
ORPHA:93299 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Periorbital edema, Pyloric stenosis, Rectal prolapse, Breech presentation, Wide... |
OMIM:613177 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Nasal polyposis, Meconium ileus, Rectal prolapse, Ileus, Cor pulm... |
OMIM:219700 |
Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Premature birth, Polyhydramnios, Fetal ascites, Hydrops fetalis, Stillbirth |
OMIM:215045 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red... |
OMIM:266200 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Volvulus,... |
OMIM:112200 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Small for gestational age, Ventricular septal defect, Craniosynostosis, Elevated ci... |
OMIM:301056 |
Non-Distal Duplication 10Q |
|
Frontal bossing, Depressed nasal bridge, Short stature, Cryptorchidism, Brachycephaly, High palat... |
ORPHA:1695 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... |
OMIM:602390 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth, Neonatal short-limb shor... |
OMIM:600972 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Failure to thrive, Frontal bossing, Depressed nasal bridge, Decreased fetal movemen... |
OMIM:608776 |
17Q21.31 Microduplication Syndrome |
|
Anteverted nares, High palate, Delayed puberty, Short nose, Failure to thrive |
ORPHA:217340 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Rectal prolapse, Biliary tract abnorm... |
OMIM:175200 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... |
OMIM:603830 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Hyponatremia, Small for gestational age, Premature bir... |
ORPHA:79325 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect... |
OMIM:620135 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... |
OMIM:620014 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Polyhydramnios, Hypoplasia of the thymus, Leukocytosis, Hematochezia, Congenital p... |
OMIM:243150 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Short stature, Anteverted nares, Cleft palate |
ORPHA:2015 |
Developmental And Epileptic Encephalopathy 96 |
|
Small for gestational age, Hydrops fetalis |
OMIM:619340 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Intestinal malrotation, Dextrocardia, Abnormal heart valve morphology,... |
ORPHA:99776 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Small for gestational age, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Nonimmu... |
OMIM:620167 |
Even-Plus Syndrome |
|
Severe short stature, Bifid nasal tip, Depressed nasal ridge, Brachycephaly, High palate, Atrial ... |
OMIM:616854 |
Hemochromatosis, Neonatal |
|
Nonimmune hydrops fetalis, Increased circulating ferritin concentration, Cholestasis, Hepatocellu... |
OMIM:231100 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Bernard-Soulier Syndrome |
|
Partially duplicated kidney, Giant platelets, Macrothrombocytopenia, Decreased platelet glycoprot... |
ORPHA:274 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Achondrogenesis, Type Ii |
|
Frontal bossing, Edema, Polyhydramnios, Disproportionate short-trunk short stature, Brachycephaly... |
OMIM:200610 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... |
ORPHA:251992 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Short stature, Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Thrombocytopenia |
ORPHA:3319 |
Johanson-Blizzard Syndrome |
|
Short stature, Dextrocardia, Edema, Malabsorption, Underdeveloped nasal alae, Abnormality of the ... |
ORPHA:2315 |
Matthew-Wood Syndrome |
|
Anophthalmia, Renal hypoplasia, Horseshoe kidney, Abnormal spleen morphology, Vesicoureteral refl... |
ORPHA:2470 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Nephrotic syndrom... |
OMIM:617303 |
Osteogenesis Imperfecta, Type Ii |
|
Small for gestational age, Premature birth, Nonimmune hydrops fetalis, Absent ossification of cal... |
OMIM:166210 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hydrops fetalis, Ascites |
ORPHA:834 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe... |
OMIM:235200 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Fetal akinesia sequence, Hydrops fetal... |
OMIM:617022 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Ring Chromosome 8 Syndrome |
|
Frontal bossing, Short nose, Anteverted nares, Polyhydramnios |
ORPHA:1450 |
Lymphatic Malformation 6 |
|
Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenom... |
OMIM:616843 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Nonimmune hydrops fetalis, Craniosynostosis, Cleft palate, Plagiocephaly, Decrease... |
OMIM:618265 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Dubowitz Syndrome |
|
Anal stenosis, Depressed nasal bridge, Short stature, Abnormality of neutrophils, Malabsorption, ... |
ORPHA:235 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Hydrops fe... |
ORPHA:79329 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Intrauterine growth retardation, Short nose, Abnormal cardiac septum morphology, Short stature |
ORPHA:2370 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... |
ORPHA:251004 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Wide nose, Postnatal growth retardation, Rectal prolapse, Megarec... |
ORPHA:508 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Failure to thrive, Pancytopenia, Short stature, Elevated circulating C-reactive ... |
OMIM:616050 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Short stature, Broad nasal tip, Polyhy... |
OMIM:617157 |
Alg9-Cdg |
|
Villous atrophy, Brachycephaly, Hydrops fetalis, Right ventricular dilatation, Gastroesophageal r... |
ORPHA:79328 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Neonatal deat... |
OMIM:614096 |
Pearson Syndrome |
|
Hydrops fetalis, Dehydration, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steato... |
ORPHA:699 |
Trisomy 1Q |
|
Frontal bossing, Wide nose, Ventricular septal defect, Depressed nasal bridge, Polyhydramnios, Cr... |
ORPHA:261344 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Prominent nasal bridge, Cryptorchidism, Wide n... |
ORPHA:401935 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Frontal bossing, Wide nose, Anteverted nares, Small for gestational age, Depressed nasal bridge, ... |
OMIM:613320 |
Adenylosuccinate Lyase Deficiency |
|
Short nose, Flat occiput, Anteverted nares, Brachycephaly |
ORPHA:46 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Cleft palate, Abnormal heart morpholog... |
OMIM:239300 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Thrombocytopenia, Giant platelets, L... |
OMIM:611209 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Polyhydramnios, Hydrops fetalis, High palate, Atrial septal defect, Patent foramen o... |
OMIM:613610 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares, Short stature |
ORPHA:1355 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Hydrops fetalis, Cleft palate, Hydrocele testis, Neutropenia, Congenital thromb... |
OMIM:616738 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hypospadias, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy... |
OMIM:222470 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Potocki-Shaffer Syndrome |
|
Prominent nasal bridge, Broad nasal tip, Parietal foramina, Underdeveloped nasal alae, Brachyceph... |
ORPHA:52022 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Horseshoe ki... |
OMIM:607330 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... |
ORPHA:77261 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Elevated circulating cr... |
OMIM:608836 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Villous atrophy, Pericarditis, Premature ovarian insufficiency, Hypergonadotropic h... |
OMIM:212065 |
Gm1 Gangliosidosis Type 1 |
|
Frontal bossing, Depressed nasal bridge, Broad nasal tip, Hydrops fetalis, Hepatosplenomegaly, Ma... |
ORPHA:79255 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Cryptorchidism, Rectal atresia, Abnormal heart morphology, Neonatal death, Anal at... |
OMIM:613390 |
Lymphatic Malformation 13 |
|
Atrial septal defect, Depressed nasal bridge, Nonimmune hydrops fetalis, Lymphedema, Fetal perica... |
OMIM:620244 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Hydronephrosis, Thrombocy... |
OMIM:616737 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Brachycephaly, Atrial se... |
OMIM:265380 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Failure to thrive, Midface retrusion |
OMIM:618379 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
3C Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Abnormal tricuspid valve morphology, Atrial septal ... |
ORPHA:7 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Brachycephaly, High palate, Transposition of t... |
ORPHA:1913 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Hepatomegaly, Small for gestational age, Refractory sidero... |
OMIM:557000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stool... |
OMIM:619868 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Williams Syndrome |
|
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:904 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Small for gestational age, Short stature |
OMIM:245570 |
Trisomy 13 |
|
Ventricular septal defect, High, narrow palate, Cryptorchidism, Hydrops fetalis, Cleft palate, At... |
ORPHA:3378 |
Boomerang Dysplasia |
|
Cryptorchidism, Severe short-limb dwarfism, Hydrops fetalis, Polyhydramnios |
ORPHA:1263 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose, High palate, Obesity |
OMIM:300577 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Small for gestational age, Cardiomegaly, Pericardial effusion, Oligohydramnios... |
OMIM:614702 |
Pierpont Syndrome |
|
Wide nose, Short stature, Broad nasal tip, Cryptorchidism, Brachycephaly, Decreased body weight, ... |
OMIM:602342 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Jaundice, Di... |
ORPHA:79282 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutropenia, Adenocarcinoma of... |
ORPHA:124 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... |
OMIM:276700 |
Achondrogenesis, Type Ia |
|
Turricephaly, Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Polyhydramnios,... |
OMIM:200600 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ... |
ORPHA:69735 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... |
ORPHA:563 |
9q subtelomeric deletion syndrome |
|
Anteverted nares, Protruding tongue, Abnormal heart morphology, Short nose, Midface retrusion |
DECIPHER:52 |
Fibrochondrogenesis 1 |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Rhizomelia, Hydrops fetalis, Cleft pal... |
OMIM:228520 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Cardiomegaly, Obesity, Colitis, Hypoalbuminemia |
ORPHA:88643 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short stature, Bilateral cryptorchidis... |
OMIM:619859 |
Hennekam Syndrome |
|
Lymphopenia, Depressed nasal bridge, Mild postnatal growth retardation, Craniosynostosis, Malabso... |
ORPHA:2136 |
Acrocephalopolydactyly |
|
Short nose, Oxycephaly, Depressed nasal ridge, Hepatosplenomegaly |
ORPHA:221054 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Short stature, Atrial septal defect, Pulmonary arterial hypertension, Sh... |
OMIM:300887 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Gastroesophageal reflux, Atrial septal defect, Anteverted... |
OMIM:194050 |
Syndromic Diarrhea |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Hypoplasia of the t... |
ORPHA:84064 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Decreased fetal movement, Edema, Thrombocytopenia, Cryptorchidism, Elevated circula... |
OMIM:608104 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Short stature, Postnatal gro... |
OMIM:253220 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Premature birth, Cardiomegaly, Thrombocytopenia, Jaun... |
ORPHA:858 |
Coffin-Lowry Syndrome |
|
Wide nose, Anteverted nares, Short stature, Rectal prolapse, Narrow palate, Thick nasal septum, M... |
OMIM:303600 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Fa... |
ORPHA:172 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Severe short stature, Cryptorchidism, Wide nasal bridge, Cleft palate, Abnormal heart morphology,... |
ORPHA:1865 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Aganglionic megacolon, Prominent nasal bridge, Bulbous no... |
OMIM:613870 |
Dermotrichic Syndrome |
|
Frontal bossing, Depressed nasal bridge, Aganglionic megacolon, Proportionate short stature, Shor... |
ORPHA:99688 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Short nose, High palate, Depressed nasal bridge |
ORPHA:261120 |
Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Prominent nasal bridge, Cryptorchidism, Obesity, Wide nasal bridge, Weight loss, G... |
ORPHA:251071 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Hyperammonemia, Dehydration, Anemia, Cardiomyopathy, Neutropenia, Fai... |
ORPHA:79312 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Dehydrated Hereditary Stomatocytosis |
|
Edema, Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassiu... |
ORPHA:3202 |
Cebalid Syndrome |
|
Turricephaly, Anteverted nares, Depressed nasal bridge, Platystencephaly, Brachycephaly, Depresse... |
OMIM:618774 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Decreased serum iron, Broad nasal tip, Overweight, Recurrent upper respiratory tract infections, ... |
ORPHA:391372 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Depressed nasal bridge, Short stature, Cryptorchidism, Bulbous nose, B... |
ORPHA:369891 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Short stature, Splenom... |
ORPHA:93476 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis |
OMIM:276822 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Bone-... |
OMIM:607616 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Premature birth, Abnormal hemoglobin, Anemia of inadequate produ... |
ORPHA:2133 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Short stature, Wide nasal bridge, Growth delay, Increased mean corpuscular vol... |
OMIM:612563 |
Craniosynostosis, Herrmann-Opitz Type |
|
Turricephaly, Short stature, Craniosynostosis, Brachycephaly, Cleft palate, Intrauterine growth r... |
ORPHA:2145 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru... |
OMIM:232220 |
Schneckenbecken Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Cleft palate, Stillbirth, Disproportionate short-limb ... |
OMIM:269250 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Edema, Splenomegaly, Jaundice, Increased circulating ferritin... |
OMIM:603552 |
Poikiloderma With Neutropenia |
|
Frontal bossing, Depressed nasal bridge, Elevated circulating creatine kinase concentration, Shor... |
OMIM:604173 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Anteverted nares, Short stature, Postnatal growth retardation, Cryptorchid... |
OMIM:243310 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Trigonocephaly, Anteverted nares, Ventricular septal defect, Short nose |
OMIM:618506 |
Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Short stature, Thrombocytopenia, Recurrent upper... |
ORPHA:333 |
Perlman Syndrome |
|
Hepatomegaly, Anteverted nares, Cryptorchidism, High, narrow palate, Abnormal pancreas morphology... |
ORPHA:2849 |
Roifman Syndrome |
|
Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Anteverted n... |
OMIM:616651 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Frontal bossing, Ventricular septal defect, Small for gestational age, Cran... |
OMIM:614114 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Ventricular septal defect, Depressed nasal... |
OMIM:606003 |
Potocki-Shaffer Syndrome |
|
Turricephaly, Underdeveloped nasal alae, Parietal foramina, Wide nasal bridge, Brachycephaly, Sho... |
OMIM:601224 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis, Dysphagia |
ORPHA:477774 |
Lymphangiectasia, Pulmonary, Congenital |
|
Depressed nasal bridge, Mild postnatal growth retardation, Edema, Polyhydramnios, Facial edema, N... |
OMIM:265300 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Congestiv... |
ORPHA:615 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Frontal bossing, Depressed nasal bridge, Large for gestational age, Splenomegaly, O... |
OMIM:605309 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Malabsorption, Elevat... |
ORPHA:2070 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... |
ORPHA:860 |
Clark-Baraitser Syndrome |
|
Anteverted nares, Depressed nasal bridge, Brachycephaly, Obesity, High palate, Dolichocephaly, Sh... |
OMIM:617752 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Card... |
OMIM:606069 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... |
OMIM:613101 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Frontal bossing, Brachycephaly, Mitral valve prolapse, Mitral regurgitation, High palate, Short n... |
OMIM:615539 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge... |
ORPHA:284169 |
Campomelia, Cumming Type |
|
Hepatomegaly, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops fetalis, Cleft p... |
ORPHA:1318 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Flat occiput, Anteverted nares, Protruding tongue, Cryptorchidism, Obesity,... |
ORPHA:96147 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Growth delay, Short nose, Depressed nasal bridge, Short stature |
ORPHA:438178 |
Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negat... |
ORPHA:3261 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatic fibrosis, Failure to thr... |
OMIM:614480 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Frontal bossing, Anteverted nares, Rhizomelia, Depressed nasal ridge, Weight loss, ... |
ORPHA:1842 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Leukocytosis, Hepato... |
OMIM:618278 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... |
ORPHA:79301 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Frontal bossing, Hypoplastic nasal bridge, Ventricular septal d... |
OMIM:609942 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, High palate, Hydrops fetalis, Polyhydramnios |
OMIM:255320 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Failure to thrive in infancy, Obesity, Broad nasal tip |
OMIM:613670 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Bilateral cryptorchidism, High, narrow palate, Bulbous nose, Abnormal heart morpholo... |
ORPHA:485405 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Abnormality of th... |
ORPHA:85443 |
17P13.3 Microduplication Syndrome |
|
Frontal bossing, Wide nose, High palate, Short nose, Tall stature |
ORPHA:217385 |
Greenberg Dysplasia |
|
Hepatomegaly, Depressed nasal bridge, Rhizomelia, Polyhydramnios, Nonimmune hydrops fetalis, Echo... |
OMIM:215140 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Edema, Malabsorption, Pulmonary embolism, Growth delay, Iro... |
OMIM:226300 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Unilateral cryptorchidism, Abnormal pulmonary valve morphology, Large for gestational age, Broad ... |
ORPHA:137634 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomegaly, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomyopathy, A... |
ORPHA:465508 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Short stature, Cryptorchidism, Pulmonic stenosis, Hypertrophic cardiomyopathy, ... |
ORPHA:2701 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, Arrhythmia |
ORPHA:85447 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Anteverted nares, Short stature, Perimembranous ventricular septal defect, High palate, Transposi... |
OMIM:617877 |
Galactosialidosis |
|
Conjunctival telangiectasia, Severe short stature, Nonimmune hydrops fetalis, Hepatosplenomegaly,... |
OMIM:256540 |
Gray Platelet Syndrome |
|
Splenomegaly, Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he... |
OMIM:212140 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased body weight, Hepatic ... |
ORPHA:264580 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Cryptorchidism, Unilambdoid synostosis, Brachycephaly, Wide nasal bridge, Plagi... |
OMIM:618577 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Frontal bossing, Anteverted nares, Short stature, Bulbous nose, Wide nasal bridge, Growth delay, ... |
OMIM:613604 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Small for gestational age, Ventricular septal defect, Short stature, Cleft palate, Atr... |
OMIM:614261 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Depressed nasal ridge, Intrauterine growth retardation, Short nose, Median clef... |
ORPHA:1832 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal... |
ORPHA:355 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis, Anemia |
OMIM:617408 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Depressed nasal bridge, Anemia of i... |
ORPHA:231214 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Frontal bossing, Failure to thrive in infancy, Cardiomegaly, Hyperprolinemia, Pulmo... |
OMIM:619064 |
Verheij Syndrome |
|
Ventricular septal defect, Small for gestational age, Anteverted nares, Broad nasal tip, Short st... |
OMIM:615583 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv... |
ORPHA:137667 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Hepatomegaly, Flat occiput, Anteverted nares, Wide nasal bridge, Plagiocepha... |
OMIM:619383 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... |
OMIM:232200 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, High palate, Anemia, Delayed puberty |
ORPHA:2598 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial... |
ORPHA:3287 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... |
ORPHA:424016 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Frontal bossing, Depressed nasal bridge, Lymphoid nodular hyperplasia, Shor... |
ORPHA:210548 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
Teebi Hypertelorism Syndrome 1 |
|
Frontal bossing, Ventricular septal defect, Anteverted nares, Sagittal craniosynostosis, Depresse... |
OMIM:145420 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Small for gestational age, Anteverted nares, Depressed nasal bridge, Short stature, Po... |
OMIM:257300 |
Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
Platyspondylic Dysplasia, Torrance Type |
|
Depressed nasal bridge, Polyhydramnios, Hydrops fetalis, Cleft palate, Disproportionate short-lim... |
ORPHA:85166 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Prolidase Deficiency |
|
Hepatomegaly, Depressed nasal bridge, Thrombocytopenia, Splenomegaly, Diffuse telangiectasia, Con... |
OMIM:170100 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Cardiomegaly, Abnormal occipital bone morphology, High, narrow palate, Hydrops fe... |
ORPHA:3472 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Postnatal growth retardation, Cryptorchidism, Brachycephaly, Gastroesophageal reflu... |
OMIM:615419 |
Cat Eye Syndrome |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Short stature, Rectal fistula, ... |
OMIM:115470 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Ventricular septal defect, Intestinal malrotation, Parachute mitral valve, Promi... |
OMIM:618316 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... |
ORPHA:79277 |
Walker-Warburg Syndrome |
|
Anophthalmia, Microphthalmia, Hypoplasia of penis, Abnormal circulating creatine kinase concentra... |
ORPHA:899 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, ... |
OMIM:620010 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Nonimmune hydrops fetalis, Elevated circulating alpha-fetoprotein concentratio... |
OMIM:617049 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Wide nose, Short stature, Elevated circulating creatine kinase concentration, Protr... |
OMIM:608779 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Prominent nasal bridge, Nonimmune hydrops fetalis, Lymphedema, Long nose, Pulmon... |
OMIM:137940 |
Periventricular Nodular Heterotopia 7 |
|
Ventricular septal defect, Anteverted nares, Cryptorchidism, Cleft palate, Dolichocephaly, Short ... |
OMIM:617201 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Bilateral fetal pyelectasis, Anteverted nares, Depressed nasal bridge, Polyhydramni... |
OMIM:300868 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Anemia, Ne... |
ORPHA:505248 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp... |
OMIM:615895 |
Cerebrooculonasal Syndrome |
|
Hypoplasia of penis, Anophthalmia |
ORPHA:66625 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Frontal bossing, Failure to thrive in infancy, Prominent nasal bridge, Short... |
ORPHA:1225 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Anophthalmia, Bilateral microphthalmos, Renal hypoplasia, Horseshoe kidney, Mu... |
OMIM:601186 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short stature, Growth delay, Gastroesophageal reflux, Intrauterine growth retardation, Short nose |
ORPHA:1495 |
Kaposiform Lymphangiomatosis |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Multiple ... |
ORPHA:464329 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Edema, Abnormal small intestinal villus morphology, Hypoalbuminemia, Hypocal... |
ORPHA:90362 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Hyperammonemia, Br... |
OMIM:610015 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block... |
ORPHA:398124 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Cleft palate, Plagiocep... |
OMIM:614749 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... |
ORPHA:64743 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Short stature, Conjugat... |
OMIM:211600 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Frontal bossing, Anteverted nares, Depressed na... |
OMIM:619005 |
Maxillonasal Dysplasia |
|
Depressed nasal bridge, Depressed nasal ridge, Cleft palate, Short columella, Abnormal nostril mo... |
ORPHA:1248 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Hypoplasia of penis, Anophthalmia, Hypospadias |
ORPHA:77298 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short stature, Short uvula, Hydrops fetalis, Cleft palate, High palate, Hepatic fibrosis, Dolicho... |
OMIM:614091 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Turricephaly, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Cryptorchidism, Brachyc... |
ORPHA:171839 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper... |
OMIM:619046 |
Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Premature birth, Hiatus hernia, Rectal prolapse, Arterial rupture, Mitra... |
ORPHA:287 |
H Syndrome |
|
Hypertriglyceridemia, Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Micropeni... |
ORPHA:168569 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Ventri... |
OMIM:263520 |
Cystic Fibrosis |
|
Nasal polyposis, Meconium ileus, Malabsorption, Rectal prolapse, Abnormality of the liver, Gastro... |
ORPHA:586 |
Peho-Like Syndrome |
|
Short nose, Edema |
OMIM:617507 |
Lowry-Maclean Syndrome |
|
Choanal atresia, Craniosynostosis, Bilateral cryptorchidism, Midgut malrotation, High, narrow pal... |
ORPHA:2409 |
Pseudo-Torch Syndrome 3 |
|
Premature birth, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circul... |
OMIM:618886 |
Autosomal Recessive Omodysplasia |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Rhizomelia, Short st... |
ORPHA:93329 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Hydronephrosis, Thrombocy... |
ORPHA:487796 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Abnormal pericardium morphology, Congestive heart failure,... |
ORPHA:67 |
Chung-Jansen Syndrome |
|
Anteverted nares, Cryptorchidism, Obesity, High palate, Short nose, Meconium stained amniotic fluid |
OMIM:617991 |
Intellectual Disability-Strabismus Syndrome |
|
Depressed nasal bridge, Short stature, Narrow nasal ridge, Prominent nose, Polyhydramnios, Crypto... |
ORPHA:363528 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thickened nuchal skin fold, Hepatomegaly, Flat occiput, Ventricular septal defect, Polyhydramnios... |
OMIM:235255 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Ventricul... |
OMIM:601005 |
Lymphatic Malformation 1 |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hydrocele testis, Hypoplasia of l... |
OMIM:153100 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Edema, Periorbital edema, Splenomegaly, Myocarditis, Congest... |
ORPHA:3386 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Edema, Large for gestational age, Cardiomegaly, Polyhydramnios, Gastrointe... |
ORPHA:363705 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal... |
OMIM:616589 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Harel-Yoon Syndrome |
|
Frontal bossing, Hypertrophic cardiomyopathy, Short nose |
OMIM:617183 |
Smith-Magenis Syndrome |
|
Frontal bossing, Decreased fetal movement, Hypertriglyceridemia, Failure to thrive in infancy, An... |
ORPHA:819 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Obesity, Mild short stature, Short nose... |
OMIM:614613 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Miller-Dieker Syndrome |
|
Growth delay, Short nose, Anteverted nares, Polyhydramnios |
ORPHA:531 |
Trigonocephaly 1 |
|
Craniosynostosis, High, narrow palate, Wide nasal bridge, Trigonocephaly, Short nose, Meckel dive... |
OMIM:190440 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Trigonocephaly, Craniosynostosis, Polyhydramn... |
ORPHA:1790 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Increased blood urea nitrogen, Anemia |
ORPHA:90321 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Chronic neutropenia, Hyperlipidemia, Stage 5 chr... |
ORPHA:79259 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Polyhydramnios, Splenomegaly, Depressed nasal ridge, Ascites, Anemia, Oligohydramnios |
ORPHA:1046 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Midface retrusion, Wide nose, Tricuspid regurgitation, Severe short stature, Dilated cardiomyopat... |
ORPHA:2556 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Short stature, Underdeveloped nasal alae, Postnatal growth retardation, Cryptor... |
OMIM:613026 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I... |
OMIM:603585 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Depressed nasal bridge, Prominent nasal bridge, Cardiome... |
ORPHA:324410 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Short stature, Cerebellar hemorrhage, Hyperammonemia, Dehydration, An... |
OMIM:606054 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Frontal bossing, Depressed nasal bridge, Bulbous nose, Brachycephaly, Obesity, Plagiocephaly, Sho... |
OMIM:618430 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Anteverted nares, Trigonocephaly, Choanal atresia, Short stature, Esop... |
OMIM:610536 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Short stature, Jaundice, Macroglossia,... |
OMIM:613038 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Stage 5 chronic kidney disease, Ureter... |
OMIM:208540 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Frontal bossing, Ventricular septal defect, Intestinal malrotation, Narrow nose, Short stature, L... |
OMIM:617602 |
Focal Segmental Glomerulosclerosis 1 |
|
Edema, Hyperlipidemia, Hypertension, Hypoalbuminemia, Pleural effusion, Ascites, Anemia |
OMIM:603278 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Lymphedema, Splenomegaly, Furrowed t... |
ORPHA:2930 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Cardiomyopathy, Prolonged neonatal jaundice, Short nose |
OMIM:618437 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Decreased fetal movement, Short stature, Prominent nose, Scaphocephaly, Cranial asymmetry, Wide n... |
OMIM:614886 |
Tetrasomy 12P |
|
Frontal bossing, Anteverted nares, Short stature, Cachexia, Abnormal soft palate morphology, Shor... |
ORPHA:884 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
Gomez-Lopez-Hernandez Syndrome |
|
Turricephaly, Anteverted nares, Short stature, Craniosynostosis, Brachycephaly, Skull asymmetry, ... |
OMIM:601853 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Ventricular septal defect, Short stature, Postnatal growth retardation, Splenomegal... |
OMIM:620210 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Short nose, Short stature, Brachycephaly |
ORPHA:1514 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemi... |
OMIM:214900 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Frontal bossing, Wide nose, Anteverted nares, Angina pectoris, Abnormal lar... |
ORPHA:109 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Trigonocephaly, Shor... |
OMIM:619179 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Primary amenorrhea, Hepatospleno... |
OMIM:612526 |
Distal Duplication 18Q |
|
Thickened nuchal skin fold, Anteverted nares, Choanal atresia, Prominent nasal bridge, Cryptorchi... |
ORPHA:1716 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Hyperammonemia, Dehydration, Anemia, Leukopenia, Cardiomyopathy,... |
ORPHA:27 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Neonatal omphalitis, Leukopenia, High palate, Hypoplasia of the th... |
OMIM:612541 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Short stature, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism, High palate, Sh... |
OMIM:613544 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Depressed nasal ridge, B... |
ORPHA:1791 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Frontal bossing, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnorma... |
ORPHA:2538 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundice, Steator... |
OMIM:612714 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Esophageal varix, Growth delay, Ste... |
ORPHA:75233 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Anteverted nares, Depressed nasal bridge, Short stature, Brachycephaly, High palate, Intrauterine... |
ORPHA:1327 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr... |
ORPHA:98850 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Short stature, Malabsorption, Protruding tongue, Macrog... |
OMIM:242860 |
Phocomelia, Schinzel Type |
|
High, narrow palate, Cryptorchidism, Disproportionate short stature, Tracheoesophageal fistula, C... |
ORPHA:2879 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Acromicric Dysplasia |
|
Bulbous nose, Severe short stature, Anteverted nares, Short nose |
ORPHA:969 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hyponatremia, Cachexia, Malabsorption, M... |
ORPHA:3452 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Peau d'orange, Ventricular septal defect, Elevated circulating creati... |
OMIM:614576 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Short stature, Polyhydramnios, Wide nasal bridge, High palate, Neutropenia, Atrial septal defect,... |
OMIM:618005 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Failure to thrive in infancy, Elevated circulating creatine kinase... |
OMIM:610377 |
Mucopolysaccharidosis Type 7 |
|
Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites |
ORPHA:584 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundic... |
ORPHA:1414 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Weight loss, Enlarged mesenteric... |
OMIM:209950 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, He... |
OMIM:278000 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... |
ORPHA:545 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
16P11.2P12.2 Microdeletion Syndrome |
|
Frontal bossing, Tricuspid regurgitation, Anteverted nares, Short stature, Long nose, Bulbous nos... |
ORPHA:261211 |
Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Frontal bossing, Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnio... |
OMIM:620369 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... |
OMIM:619463 |
Pde4D Haploinsufficiency Syndrome |
|
Frontal bossing, Depressed nasal bridge, Prominent nose, Postnatal growth retardation, Cryptorchi... |
ORPHA:439822 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-rea... |
ORPHA:829 |
Codas Syndrome |
|
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Short stature, Extrahepatic ... |
ORPHA:1458 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Flat occiput, Ventricular septal defect, Polyhydramnios, Broad nasal tip, Postnatal... |
ORPHA:1655 |
Bainbridge-Ropers Syndrome |
|
Polyhydramnios, Gastroesophageal reflux, High palate, Choanal stenosis, Caesarian section, Anteve... |
OMIM:615485 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose, Gastroesophageal reflux |
OMIM:618218 |
Acrodysostosis |
|
Anteverted nares, Depressed nasal bridge, Short stature, Cryptorchidism, Irregular menstruation, ... |
ORPHA:950 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Depressed nasal bridge, Hypercalcemia, Craniosynostosis, Postnatal growth retardation, Cryptorchi... |
OMIM:614732 |
Immunodeficiency 54 |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Intraut... |
OMIM:609981 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Frontal bossing, Short stature, Bulbous nose, Wide nasal bridge, Cleft palate, Abnormal heart mor... |
OMIM:618571 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... |
OMIM:617718 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short stature, Anosmia, Hypogonadism, Short nose, Short nasal septum |
OMIM:302950 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Jaundice, Anemia, Atrial se... |
ORPHA:290 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Down Syndrome |
|
Thickened nuchal skin fold, Aganglionic megacolon, Depressed nasal bridge, Protruding tongue, Abn... |
ORPHA:870 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Polyhydramnios, High palate, Tr... |
ORPHA:329178 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia |
ORPHA:100024 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Frontal bossing, Failure to thrive in infancy, Choanal atresia, Porta... |
OMIM:613385 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph... |
ORPHA:507 |
Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Frontal bossing, Failure to thrive in infancy, Abnorma... |
ORPHA:1340 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Abnormal rectum morphology, Hyperbilirubinemia, Hiatus hernia |
ORPHA:101009 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri... |
OMIM:252920 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Depressed nasal bridge, Short stature, Polyhydramnios, Plagiocephaly, Gastroesophageal reflux, Hi... |
OMIM:619833 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Desmosterolosis |
|
Frontal bossing, Severe short stature, Depressed nasal bridge, Intestinal malrotation, Abnormalit... |
ORPHA:35107 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Abnormal intestine morphology... |
ORPHA:397596 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Gastroesophageal reflux, Male in... |
ORPHA:85450 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Anteverted nares, Intestinal malrotation, Short stature, Velopharyngeal insufficiency, Submucous ... |
OMIM:614701 |
Maxillonasal Dysplasia, Binder Type |
|
Short nose, Short columella, Depressed nasal bridge |
OMIM:155050 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Frontal bossing, Bicuspid aortic valve, Cleft soft palate, Anteverted nares, Broad nasal tip, Sho... |
OMIM:618529 |
Smith-Kingsmore Syndrome |
|
Frontal bossing, Depressed nasal bridge, Rhizomelia, Large for gestational age, Cryptorchidism, S... |
OMIM:616638 |
C Syndrome |
|
Hepatomegaly, Ventricular septal defect, Anteverted nares, Short stature, Cryptorchidism, Wide na... |
OMIM:211750 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Disproportionate short-limb short stature, Short nose, Midface retrusion |
OMIM:618618 |
Tetrasomy 5P |
|
Anteverted nares, Postnatal growth retardation, Congestive heart failure, Wide nasal bridge, Hear... |
ORPHA:3309 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ... |
ORPHA:77259 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:85414 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Edema, Splenomegaly, Cholestasis, Hypertension |
OMIM:105200 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Short stature, Prominent nasal bridge, High palate, Short nose |
OMIM:300558 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Frontal bossing, Short nose, Polyhydramnios, Duodenal stenosis |
ORPHA:2547 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegal... |
ORPHA:731 |
Pfapa Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss |
ORPHA:42642 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Frontal bossing, Bicuspid aortic valve, Ventricular septal defect, Pyloric stenosis, Submucous cl... |
ORPHA:457279 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Sudd... |
OMIM:201475 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... |
ORPHA:131 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... |
OMIM:230800 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Degcags Syndrome |
|
Polyhydramnios, Oral-pharyngeal dysphagia, Prominent nose, Leukopenia, Iron deficiency anemia, Hi... |
OMIM:619488 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... |
ORPHA:822 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Congestive heart failure, Seconda... |
ORPHA:79083 |
Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... |
ORPHA:157794 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Short stature, Splenomegaly, Cryptorchidi... |
OMIM:618440 |
Fetal Alcohol Syndrome |
|
Anteverted nares, Short stature, Cleft palate, Biparietal narrowing, Atrial septal defect, Intrau... |
ORPHA:1915 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegal... |
OMIM:601847 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity, Short nose |
ORPHA:2429 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, A... |
ORPHA:160 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Anophthalmia |
ORPHA:90322 |
Trisomy 12P |
|
Thickened nuchal skin fold, Turricephaly, Short stature, Wide nasal bridge, Cleft palate, Short n... |
ORPHA:1699 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute leukemia, ... |
ORPHA:3226 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... |
ORPHA:70475 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Polysplenia, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B lymphocytopenia, Lymph... |
OMIM:619164 |
Blomstrand Lethal Chondrodysplasia |
|
Depressed nasal bridge, Anteverted nares, Rhizomelia, Protruding tongue, Polyhydramnios, Prematur... |
ORPHA:50945 |
Distal Deletion 10Q |
|
Frontal bossing, Short stature, Prominent nasal bridge, Craniosynostosis, Prominent nose, Postnat... |
ORPHA:96148 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infections, Growth de... |
OMIM:614069 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Thickened nuchal skin fold, Prominent nasal bridge, Underdeveloped nasal alae, Cryptorchidism, Gr... |
ORPHA:2083 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Premature birth, Cardiomegaly, ... |
ORPHA:555874 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Frontal bossing, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Short nose |
ORPHA:2143 |
Miller-Dieker Lissencephaly Syndrome |
|
Frontal bossing, Decreased fetal movement, Anteverted nares, Polyhydramnios, Cryptorchidism, Wide... |
OMIM:247200 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Genera... |
OMIM:267700 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Prominent nos... |
OMIM:185070 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Dextrocardia, Shor... |
OMIM:277380 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal circulating lipid concentration, Short stature, Abnormality of neutrophils... |
ORPHA:381 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Wide nasal bridge, Gastroesophageal reflux, Mild short stature, Short nose |
OMIM:620292 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, Portal hypertension, Edema, Per... |
OMIM:619487 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Fg Syndrome 5 |
|
Trigonocephaly, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
Kleefstra Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Short stature, Pyloric stenos... |
ORPHA:261494 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron d... |
ORPHA:99931 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Gastrointestinal hemorrhage, Refractory anemia, Aortic regurgitation, Metrorrh... |
ORPHA:99147 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Trigonocephaly, Cleft palate, Atrial septal defect, Short nose |
ORPHA:79113 |
Cardiofaciocutaneous Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Short stature, Premature birth, Polyhydramnios, Splenom... |
OMIM:115150 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Edema of the dorsum of feet, Edema of the dorsum of hands, Short nose, Failu... |
ORPHA:544503 |
Opsismodysplasia |
|
Hepatomegaly, Frontal bossing, Flat occiput, Depressed nasal bridge, Severe short stature, Spleno... |
ORPHA:2746 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Small for gestational age, Premature birth, Elevated circulating C-rea... |
ORPHA:90051 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, High palate, Hepatic steatosis, Accessory spleen, Hepatomegaly,... |
OMIM:619418 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Cardiac diverti... |
ORPHA:440437 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Severe short stature, Intestinal pseudo-obstruction, Abnormal heart valve morpholog... |
OMIM:309900 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short stature, Wide nasal bridge, Cleft palate, Coronal craniosynostosis, Short nose |
OMIM:614078 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Decreased fetal movement, Anal stenosis, Aganglionic megacolon, Short stature, Broad nasal tip, W... |
OMIM:614207 |
Hurler Syndrome |
|
Hepatomegaly, Frontal bossing, Abnormal heart valve morphology, Abnormality of the tonsils, Antev... |
ORPHA:93473 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Anteverted nares, Depressed nasal bridge, Large for gestational age, Brachycephaly, High palate, ... |
OMIM:615398 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Frontal bossing, Tricuspid regurgitation, Hypoplastic right heart, Ventricular septal defect, Ant... |
OMIM:616894 |
Facial Paresis, Hereditary Congenital, 3 |
|
Anteverted nares, Depressed nasal bridge, High palate, Dysphagia, Short nose, Midface retrusion |
OMIM:614744 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis, Short stature, Prematu... |
ORPHA:280200 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Short nose, Depressed nasal bridge, Intrauterine growth retardation |
OMIM:616910 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Atrial fibrillation, Premature birth, Craniosynostosis, Splenomegaly, Jaundice, Con... |
ORPHA:525731 |
Jacobsen Syndrome |
|
Broad columella, Abnormality of the anus, Anteverted nares, Short stature, Premature birth, Crypt... |
ORPHA:2308 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Anteverted nares, Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Long nose, Gr... |
OMIM:615866 |
Edinburgh Malformation Syndrome |
|
Frontal bossing, Anteverted nares, Choanal atresia, Short nose, Failure to thrive |
ORPHA:1895 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Anal fissure, Perianal abscess, Lymphadeniti... |
OMIM:618935 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Frontal bossing, Ventricular septal defect, Anteverted nares, Depressed nasal bridg... |
OMIM:608149 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Wilson Disease |
|
Hepatomegaly, Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Jaundice, Incre... |
ORPHA:905 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose, Small for gestational age, Short stature |
ORPHA:289266 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cryptorchidism, Hypertrophic cardiomyopathy, Short nose, Delayed puberty |
ORPHA:496790 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Frontal bossing, Thick nasal alae, Dysphagia, Short nose, Meckel diverticulum |
ORPHA:163961 |
Stickler Syndrome Type 1 |
|
Short nose, Cleft palate, Mitral valve prolapse |
ORPHA:90653 |
Tetrasomy 18P |
|
Achalasia, Syncope, Short nose |
ORPHA:3307 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... |
OMIM:603909 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Protruding tongue, Postnatal... |
OMIM:301040 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Au-Kline Syndrome |
|
Gastroesophageal reflux, High palate, Bifid uvula, Sagittal craniosynostosis, Cryptorchidism, Wid... |
OMIM:616580 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Ventricular septal defect, Depressed nasal bridge, Bulbous nose, Wide nasal bridge, High palate, ... |
OMIM:617061 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose, Short stature, Cachexia |
ORPHA:1389 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Unilateral cryptorchidism, Depressed nasal bridge, Proportionate short... |
OMIM:613457 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Wide nose, Nonimmune hydrops fetalis, Stillbirth, Ascit... |
OMIM:617667 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiac arrest, Cardiomegaly, C... |
OMIM:617713 |
Hurler Syndrome |
|
Aortic regurgitation, Hepatomegaly, Frontal bossing, Anteverted nares, Depressed nasal bridge, Sh... |
OMIM:607014 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... |
ORPHA:824 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan... |
ORPHA:144 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Generalized edema, Edema, Thrombo... |
OMIM:603553 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis, Splenic cyst |
OMIM:618188 |
Cinca Syndrome |
|
Hepatomegaly, Frontal bossing, Premature birth, Abnormality of neutrophils, Elevated circulating ... |
ORPHA:1451 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... |
OMIM:301500 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Thrombocytopenia, Splenomegaly, Recurrent pharyngitis, Lymphadenopath... |
ORPHA:47612 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia, Craniosynostosis, Prominent nasal bridge, Short stature,... |
ORPHA:96097 |
Mycophenolate Mofetil Embryopathy |
|
Bifid nose, Ventricular septal defect, Tracheoesophageal fistula, Hydrops fetalis |
ORPHA:268249 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Short nose, High palate, Elevated circulating creatine kinase concentration |
OMIM:615042 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Frontal bossing, Turricephaly, Aganglionic megacolon, Polyhydramnios, Intraventricular hemorrhage... |
OMIM:613603 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Anteverted nares, Small for gestational age, Proportionate short stature, Severe postn... |
ORPHA:391408 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Brachycephaly, Prolonged neonatal j... |
OMIM:618828 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt... |
OMIM:300842 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Small for gestational age, Premature birth, Polyhydramnios, Fetal akine... |
OMIM:208150 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect, Small for gestational age, Recurrent upper respiratory tract infection... |
ORPHA:3078 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Short stature, Thrombocytopenia, Congestiv... |
ORPHA:508542 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Fibular Hemimelia |
|
Anophthalmia, Renal dysplasia, Thrombocytopenia |
ORPHA:93323 |
Mucopolysaccharidosis Type 1 |
|
Abnormal heart valve morphology, Abnormality of the tonsils, Depressed nasal bridge, Malabsorptio... |
ORPHA:579 |
Chops Syndrome |
|
Ventricular septal defect, Anteverted nares, Short stature, Splenomegaly, High, narrow palate, Cr... |
OMIM:616368 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Frontal bossing, Anteverted nares, Depressed nasal bridge, Bulbous nose, ... |
OMIM:614105 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Brachycephaly, Cleft palate, High pala... |
ORPHA:163649 |
Marshall-Smith Syndrome |
|
Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, High palate, Choanal stenosis, At... |
OMIM:602535 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Splenomeg... |
ORPHA:90041 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Failure to thrive in infancy, Transient ischemic attack, Left ventricula... |
ORPHA:51608 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Depressed nasal bridge, Anteverted nares, Short stature, Intraventricular hemorrhage, Wide nasal ... |
OMIM:616430 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiom... |
ORPHA:116 |
Trisomy 18 |
|
Ventricular septal defect, Choanal atresia, Cachexia, Short stature, Esophageal atresia, Cryptorc... |
ORPHA:3380 |
Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Short nose |
ORPHA:1529 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Frontal bossing, Rhizomelia, Short stature, Depressed nasal ridge, Intrauterine growth retardatio... |
OMIM:300863 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adenomatous colonic poly... |
ORPHA:329971 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... |
OMIM:252500 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Frontal bossing, Bicuspid aortic valve, Anteverted nares, Depre... |
OMIM:613563 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Hydrocele testis... |
OMIM:607823 |
Alkuraya-Kucinskas Syndrome |
|
Anteverted nares, Depressed nasal bridge, Edema, Pericardial effusion, Plagiocephaly, Pleural eff... |
OMIM:617822 |
Khan-Khan-Katsanis Syndrome |
|
Frontal bossing, Failure to thrive, Tricuspid regurgitation, Short stature, Dysphagia, Neutropeni... |
OMIM:618460 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Short nose, Anteverted nares |
OMIM:619356 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Intestinal malrotatio... |
ORPHA:2729 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated circulating creatine kinase concen... |
OMIM:614921 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Polyhydramnios, Hamartoma of tongue, Hydrops fetalis, Cleft palate, Atria... |
OMIM:616546 |
Odontochondrodysplasia |
|
Frontal bossing, Short nose, Depressed nasal bridge, Short stature |
ORPHA:166272 |
Geleophysic Dysplasia 2 |
|
Hepatomegaly, Short stature, Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aor... |
OMIM:614185 |
Vitamin K Antagonist Embryofetopathy |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Intrauterine growth reta... |
ORPHA:1914 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Hyperuricemia, Increased hepatic glycoge... |
OMIM:261750 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Decreased fetal movement, Decreased CD4:CD8 ratio, Spl... |
OMIM:618495 |
Fetal Hydantoin Syndrome |
|
Thickened nuchal skin fold, Short stature, Cryptorchidism, Depressed nasal ridge, Cleft palate, I... |
ORPHA:1912 |
Arthrogryposis, Distal, Type 2A |
|
Decreased fetal movement, Small for gestational age, Polyhydramnios, Underdeveloped nasal alae, P... |
OMIM:193700 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Short stature, Dysmenorrhea, Elevated circulating creatine ki... |
ORPHA:79240 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Wide nasal bridge, Cleft palate, Growth delay, Short nose |
OMIM:615716 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Aarskog-Scott Syndrome |
|
Increased upper to lower segment ratio, Anteverted nares, Short stature, Bilateral cryptorchidism... |
OMIM:305400 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypogonadotropic hypogonadism, Depressed nasal bridge, Short stature, Splenomeg... |
ORPHA:251066 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Dextrotransposition of the gr... |
OMIM:618619 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Leukocytosis, Lymphadenopathy, I... |
ORPHA:98849 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Abnormal circulating selenium concentration, Decreased serum i... |
ORPHA:89842 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Congestive heart failure, Seconda... |
ORPHA:2348 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophi... |
ORPHA:33226 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Proportionate short stature, Broad nasal tip, Postnatal growth retarda... |
ORPHA:79345 |
Autosomal Dominant Omodysplasia |
|
Frontal bossing, Depressed nasal bridge, Rhizomelia, Cryptorchidism, Short nose |
ORPHA:93328 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Desbuquois Dysplasia 1 |
|
Severe short stature, Depressed nasal bridge, Obesity, Growth delay, Concave nasal ridge, Disprop... |
OMIM:251450 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
20Q11.2 Microduplication Syndrome |
|
Anteverted nares, Depressed nasal bridge, Palpebral edema, Periorbital edema, Cryptorchidism, Bra... |
ORPHA:363659 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Dolichocephaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmet... |
OMIM:252930 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Short stature, Decreased heart rate variability... |
OMIM:619004 |
Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Anteverted nares, Depressed nasal bridge, Shor... |
OMIM:244450 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Frontal bossing, Anal stenosis, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Large f... |
OMIM:614080 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, N... |
ORPHA:3260 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, High, narrow palate, Brachycephaly, Anteriorly placed anus, Gastroesophage... |
OMIM:612289 |
Jacobsen Syndrome |
|
Flat occiput, Ventricular septal defect, Anteverted nares, Trigonocephaly, Depressed nasal bridge... |
OMIM:147791 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia, Hypospadias |
OMIM:615877 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog... |
ORPHA:576 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Polyhydramnios, J... |
ORPHA:436252 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Lobulated tongue, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:613443 |
Al-Raqad Syndrome |
|
Atrial septal defect, Short nose |
OMIM:616459 |
Meier-Gorlin Syndrome 6 |
|
Frontal bossing, Severe short stature, Small for gestational age, Anteverted nares, Depressed nas... |
OMIM:616835 |
Trisomy 10P |
|
Absent gallbladder, Frontal bossing, Small for gestational age, Anteverted nares, Depressed nasal... |
ORPHA:171929 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension |
OMIM:617068 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial enlargement, Esophageal varix, ... |
OMIM:616028 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... |
ORPHA:83469 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Frontal bossing, Wide nasal bridge, Obesity, Narrow palate, Gastroesophageal reflux, Overgrowth, ... |
OMIM:620250 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Craniosynostosis, Hiatus hernia, Myocardial infarctio... |
ORPHA:3342 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Anteverted nares, Short stature, Broad nasal tip, Subretinal pigment epithelium hemorrhage, Postn... |
ORPHA:357074 |
Pallister-Hall-Like Syndrome |
|
Short stature, Depressed nasal bridge, Cleft palate, Microglossia, Short nose |
OMIM:241800 |
Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Flat occiput, Hypogonadotropic hypogonadism, Anteverted nares, Short stature... |
ORPHA:177907 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Short stature, Underdeveloped nasal alae, Congenital hepatic fibrosis, Glossopt... |
ORPHA:2031 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Cleft palate, Anteriorly placed anus, C... |
OMIM:217980 |
Desmosterolosis |
|
Frontal bossing, Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Cleft palate, Abnormal c... |
OMIM:602398 |
Q Fever |
|
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Thrombocytopen... |
ORPHA:781 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Lymphedema, Secundum atrial septal defect, An... |
OMIM:223350 |
Lathosterolosis |
|
Hepatomegaly, Anteverted nares, Intrahepatic cholestasis, Bulbous nose, Anisopoikilocytosis, Abno... |
ORPHA:46059 |
Joubert Syndrome 21 |
|
Splenomegaly, Hyperechogenic kidneys, Anophthalmia, Renal cyst |
OMIM:615636 |
Majeed Syndrome |
|
Hepatomegaly, Cachexia, Malabsorption, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis,... |
ORPHA:77297 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Edema, Hepatic steatosis, Hemolytic anemia, Hepa... |
OMIM:615846 |
Yunis-Varon Syndrome |
|
Flat occiput, Polyhydramnios, Hydrops fetalis, Abnormal calvaria morphology, High palate, Intraut... |
OMIM:216340 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Posterior plagiocephaly, Premature rupture of membranes, Gastroesophageal re... |
OMIM:615873 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Pericarditis, Gastritis, Mediastinal... |
ORPHA:809 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia |
ORPHA:3412 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Short stature, Edema, Premature birth, Cryptorchidism, H... |
ORPHA:97362 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Congestive heart ... |
OMIM:615512 |
Mucopolysaccharidosis Type 6 |
|
Abnormal heart valve morphology, Thick nasal alae, Splenomegaly, Recurrent upper respiratory trac... |
ORPHA:583 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Anteverted nares, Cardio... |
OMIM:602782 |
Toriello-Carey Syndrome |
|
Aganglionic megacolon, Short stature, Postnatal growth retardation, Cryptorchidism, Cleft palate,... |
ORPHA:3338 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Short nose, Wide nasal bridge, High palate, Brachycephaly |
OMIM:218000 |
Mogs-Cdg |
|
Hepatomegaly, Atrial septal defect, Wide nose, Pulmonary edema, Edema, Cardiomegaly, Polyhydramni... |
ORPHA:79330 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Asplenia, Apl... |
ORPHA:564 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Neph... |
ORPHA:500095 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Short stature, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopa... |
OMIM:208000 |
Robinow Syndrome |
|
Frontal bossing, Small for gestational age, Ventricular septal defect, Anteverted nares, Depresse... |
ORPHA:97360 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Anophthalmia, Proteinuria, Abnormality of the spleen, Abnormal... |
ORPHA:2162 |
Peho Syndrome |
|
Short nose, Edema of the dorsum of feet, Edema, Edema of the dorsum of hands |
OMIM:260565 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... |
OMIM:619991 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Frontal bossing, Ventricular septal defect, Depressed n... |
OMIM:617140 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Frontal bossing, Rhizomelia, Short stature, Depressed nasal ridge, Intrauterine growth retardatio... |
ORPHA:163966 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anal stenosis, Anteverted nares, Elevated circulating alpha-fetoprotein concentration, Patent for... |
ORPHA:280633 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Microphthalmia, Micropenis |
OMIM:206900 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Achalasia, ... |
ORPHA:324 |
Heterotaxy, Visceral, 1, X-Linked |
|
Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie... |
OMIM:306955 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Recurrent pharyngitis, Hepatitis... |
ORPHA:549 |
Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short stature, Cryptorchidism, Wide nasal bridge, Short... |
OMIM:249620 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Frontal bossing, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, Cranio... |
ORPHA:508533 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetric septal hyper... |
OMIM:252900 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Obesity, Short nose |
OMIM:611936 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Failure to thrive, Autoimmune hemolytic anemia, Hypouricemia, Increased circ... |
OMIM:613179 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total... |
ORPHA:90037 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Short stature, Cryptorchidis... |
ORPHA:261236 |
Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Short stature, Polyhydramnios, Large for gestati... |
OMIM:615355 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio... |
OMIM:611881 |
Raine Syndrome |
|
Depressed nasal bridge, Choanal atresia, Short stature, Protruding tongue, Brachycephaly, Cleft p... |
OMIM:259775 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Polyhydramnios, Placental abruption, Cryptorchidism, Anemia, Leukopenia, Single um... |
OMIM:603467 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Intestinal malrotation, Broad nasal tip, Short... |
OMIM:222448 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Short stature, Facial telangiectasia, Short nose, Failure to thrive |
OMIM:615851 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, ... |
ORPHA:565612 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Frontal bossing, Anteverted nares, High palate, Intrauterine growth retardation, Short nose, Fail... |
OMIM:219200 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Frontal bossing, Short stature, Prominent nose, Postnatal growth retardation, Bulbous nose, Depre... |
OMIM:156200 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Edema, Splenomegaly, Leukocytosis, Lymphadenopathy... |
ORPHA:39041 |
Non-Distal Duplication 13Q |
|
Trigonocephaly, Cryptorchidism, Short nose, High palate |
ORPHA:1702 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome... |
OMIM:251880 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Short stature, Prominent nasal bridge, Broad nasal tip, Postnatal growth retardation, Wide nasal ... |
OMIM:300749 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Fetal polyuria, Premature birth, Edema, Polyhydramnios, Hydrops f... |
OMIM:602522 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Depressed nasal bridge, Premature birth, Breech presentation, Dysphagia, Volvulus, Short nose |
OMIM:617802 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose |
ORPHA:833 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Atri... |
OMIM:301068 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Hepatic bridging fibrosis, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepati... |
OMIM:613812 |
3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, Gastroesophageal reflux, High palate, Subvalvular aortic stenosis, Pulmon... |
ORPHA:65286 |
Teebi Hypertelorism Syndrome 2 |
|
Depressed nasal bridge, Broad nasal tip, Cleft palate, High palate, Short nose |
OMIM:619736 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran... |
ORPHA:268 |
Marshall Syndrome |
|
Frontal bossing, Anteverted nares, Depressed nasal bridge, Short stature, Brachycephaly, Cleft pa... |
ORPHA:560 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
Fish-Eye Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Angina pectoris, Splenomegaly, Lymphadenop... |
ORPHA:79292 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Craniosynostosis, Cryptorchidism, Abnormal mesentery morphology,... |
ORPHA:2953 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Thrombocytopenia, Leukoc... |
OMIM:259720 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Abnormal circulating porphyrin ... |
ORPHA:95159 |
Fibrochondrogenesis 2 |
|
Frontal bossing, Short nose, Anteverted nares, Midface retrusion |
OMIM:614524 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Obesity |
OMIM:619854 |
Ring Chromosome 7 Syndrome |
|
Anteverted nares, Prominent nasal bridge, Short stature, Situs inversus totalis, Brachycephaly, C... |
ORPHA:1449 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Choanal atresia, Short stature, Underdeveloped nas... |
ORPHA:163979 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Wide nose, Depressed nasal ridge, Short nose |
ORPHA:2831 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune ... |
ORPHA:436159 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Frontal bossing, Wide nose, Flat occiput, Ventricular septal defect, Prominent nasal bridge, Conv... |
ORPHA:251028 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Shor... |
OMIM:618454 |
Antley-Bixler Syndrome |
|
Frontal bossing, Turricephaly, Anteverted nares, Choanal atresia, Craniosynostosis, Brachycephaly... |
ORPHA:83 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Decreased fetal movement, Short stature, Cryptorchidism, Hydrops fetalis, Cleft palate, High palate |
OMIM:265000 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atria... |
OMIM:619534 |
19P13.13 Microdeletion Syndrome |
|
Anteverted nares, Depressed nasal bridge, Increased nuchal translucency, Brachycephaly, Functiona... |
ORPHA:357001 |
Atelosteogenesis, Type I |
|
Frontal bossing, Depressed nasal bridge, Rhizomelia, Polyhydramnios, Premature birth, Cryptorchid... |
OMIM:108720 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Short stature, Polyhydramnios, Brachycephaly, Cleft palate, Short nose, Midface retrusion |
ORPHA:1394 |
Trisomy 8P |
|
Anteverted nares, Abnormal atrioventricular connection, Depressed nasal bridge, Cryptorchidism, F... |
ORPHA:264450 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Short nose, Anteverted nares, Short stature, Dolichocephaly |
ORPHA:1185 |
Opsismodysplasia |
|
Frontal bossing, Depressed nasal bridge, Anteverted nares, Rhizomelia, Edema, Polyhydramnios, Dis... |
OMIM:258480 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... |
ORPHA:811 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Spider hemangioma, Splen... |
ORPHA:2137 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Renal hypoplasia |
ORPHA:264200 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Ventricular septal defect, Decreased fertility, Growth delay, Short nose |
OMIM:234050 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Decreased fetal movement, Wide nose, Anteverted nares, Short stature, Craniosynostosis, Large for... |
OMIM:213980 |
Immunodeficiency 40 |
|
Hepatomegaly, Rectal fistula, Growth delay, T lymphocytopenia, Macrovesicular hepatic steatosis, ... |
OMIM:616433 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Hypoplasia of penis, Anophthalmia |
ORPHA:2250 |
Pfeiffer Syndrome |
|
Cloverleaf skull, Depressed nasal bridge, Choanal atresia, Choanal stenosis, High palate, Coronal... |
OMIM:101600 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Meacham Syndrome |
|
Accessory spleen, Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Palpebral edema, Bulbous nose, Growth delay, Macroglossia, Gastroesophage... |
ORPHA:261144 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... |
OMIM:602347 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Pancytopenia, Autoimmune hemoly... |
OMIM:614700 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Thromb... |
ORPHA:158061 |
Leukodystrophy, Hypomyelinating, 10 |
|
Bulbous nose, Failure to thrive, Anteverted nares, Short nose |
OMIM:616420 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Facial edema, Splenomegaly, Increased circulating ferritin co... |
OMIM:618398 |
Immunodeficiency 22 |
|
Failure to thrive, Pericarditis, Recurrent upper respiratory tract infections, Capillary leak, An... |
OMIM:615758 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Brachycephaly, Anteriorly placed anus, Gastroesophageal reflux, Choanal sten... |
ORPHA:95699 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge, Short stature |
ORPHA:2835 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Gastrointestinal str... |
ORPHA:1572 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Vasculitis in the skin,... |
OMIM:620296 |
Aymé-Gripp Syndrome |
|
Pericarditis, Depressed nasal bridge, Short stature, Craniosynostosis, Pericardial effusion, Cryp... |
ORPHA:1272 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Anteverted nares, Tricuspid stenosis, Short stature, Congestive heart failure, Aort... |
OMIM:231050 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Frontal bossing, Anteverted nares, Cleft soft palate, Depressed nasal bridge, Short stature, Cryp... |
OMIM:616331 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Small for gestational age, Short stature, Malabsorption, Telangiectasia, ... |
OMIM:601675 |
Caroli Disease |
|
Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Short stature, Cleft palate, Growth delay, Gl... |
ORPHA:1358 |
Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Wide nose, Severe short stature, Monorchism, Choanal atresia, High, na... |
ORPHA:2753 |
Femoral-Facial Syndrome |
|
Cryptorchidism, Short nose, Short stature, Cleft palate |
ORPHA:1988 |
Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip |
OMIM:137550 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Small for gestational age, Failure to thrive in infancy, Cleft soft palate,... |
ORPHA:268261 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Frontal bossing, Depressed nasal bridge, Short stature, Craniosynostosis, Premature rupture of me... |
OMIM:616723 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Frontal bossing, Short nose, Midface retrusion, Thin calvarium |
ORPHA:1129 |
Toluene Embryopathy |
|
Cryptorchidism, Short nose, Short stature, Biparietal narrowing |
ORPHA:1920 |
Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue, Short nose, Failure to th... |
ORPHA:561 |
Coffin-Siris Syndrome |
|
Atrial septal defect, Ventricular septal defect, Thick nasal alae, Anteverted nares, Depressed na... |
ORPHA:1465 |
Peho Syndrome |
|
Anteverted nares, Palpebral edema, Pedal edema, Peripheral edema, Biparietal narrowing, Short nos... |
ORPHA:2836 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Anteverted nares, Depressed nasal bridge, Abnormal heart morphology, High palate, Short nose |
ORPHA:314655 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen... |
OMIM:616100 |
Pallister-Hall Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Choanal atresia, Short statu... |
OMIM:146510 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr... |
OMIM:615688 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Depressed nasal bridge, Telangiectasia of the skin, Short stature, Underdeveloped nasal alae, Bre... |
OMIM:616007 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Frontal bossing, Depressed nasal bridge, Short stature, Craniosynostosis, Disproportionate short-... |
ORPHA:457395 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Gastroesophageal reflux |
ORPHA:85277 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Depressed nasal bridge, Short stature, ... |
OMIM:301030 |
Acrocallosal Syndrome |
|
Frontal bossing, Abnormal pulmonary valve morphology, Protruding tongue, Postnatal growth retarda... |
OMIM:200990 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Dysmenorrhea, Narrow... |
ORPHA:280365 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Abnormality of ... |
ORPHA:1304 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Anteverted nares, Short stature, Cryptorchidism, Growth delay, Dolichocep... |
ORPHA:2719 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Short stature, Polyhydramnios, Conjugated hyperbilirubinemia, Spl... |
OMIM:608885 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Underdeveloped nasal alae, Long... |
OMIM:300912 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Anorectal anomaly, Gastroesophageal reflux, Hypoplasia of the thymus, Hypocalcemi... |
ORPHA:567 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Ctcf-Related Neurodevelopmental Disorder |
|
Small for gestational age, Anteverted nares, Craniosynostosis, Broad nasal tip, Fetal distress, C... |
ORPHA:363611 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Nasal congestion, Splenomegaly, Spherocytosis, Short stature |
ORPHA:66518 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Tricuspid regurgitation, Depressed nasal bridge, Short stature, Caesarian section, ... |
OMIM:253200 |
Osteoglophonic Dysplasia |
|
Frontal bossing, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Ch... |
OMIM:166250 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Dehydration, He... |
ORPHA:275761 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Hepatomegaly, Atrial septal defect, Bundle branch block, Ventricular septa... |
ORPHA:373 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Short stature, Thrombocytopenia, Splenomegaly, Increased circulating... |
OMIM:222700 |
Pfeiffer Syndrome Type 1 |
|
Depressed nasal bridge, Brachycephaly, High palate, Short nose, Midface retrusion, Bicoronal syno... |
ORPHA:93258 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:618961 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Palpebral e... |
ORPHA:50918 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Hyperbilirubinemia, Steatorrhea, ... |
OMIM:235555 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Pericarditis, Elevated circulating C-reactive protein concentration, Orch... |
ORPHA:32960 |
Chédiak-Higashi Syndrome |
|
Edema, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia... |
ORPHA:167 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Gastroesophageal reflux, Short nose, Failure to thrive, Broad columella |
OMIM:617865 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Cachexia, Abnormality... |
ORPHA:2072 |
Pfeiffer Syndrome Type 3 |
|
Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Cleft palate, High palate, Short... |
ORPHA:93260 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Premature birth, Portal hypertension, B... |
ORPHA:567983 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Hydrops fetalis, Hep... |
ORPHA:646 |
Autosomal Recessive Robinow Syndrome |
|
Frontal bossing, Ventricular septal defect, Abnormal pulmonary valve morphology, Anteverted nares... |
ORPHA:1507 |
Marshall Syndrome |
|
Anteverted nares, Depressed nasal bridge, Short stature, Cleft palate, Hypoplastic nasal bone, Mi... |
OMIM:154780 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Atrial septal defect, Hepatoblastoma, Exaggerated median tongue furrow, Hepatomeg... |
OMIM:312870 |
Warburg Micro Syndrome 3 |
|
Postnatal growth retardation, Brachycephaly, Narrow palate, Short nose, Decreased testicular size |
OMIM:614222 |
Micro Syndrome |
|
Anteverted nares, Short stature, Cryptorchidism, Wide nasal bridge, High palate, Delayed puberty,... |
ORPHA:2510 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Depressed nasal bridge, Choanal atresia, Portal hypertension, Hiatus hernia, Pancre... |
OMIM:610199 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Ventricular septal defect, Abnormality of the nose, Underd... |
ORPHA:2710 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Th... |
ORPHA:2785 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Growth delay, ... |
OMIM:616084 |
Microlissencephaly-Micromelia Syndrome |
|
Palpebral edema, Polyhydramnios, Fetal pyelectasis, Short nose, Failure to thrive |
ORPHA:50810 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Cryptorchidism, Bulbous nose, Wide nasal bridge, Growth delay, Gastroe... |
OMIM:615803 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Anteverted nares, Postnatal growth retardation, Arterial rupture, Intrauterine growth retardation... |
OMIM:612394 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Bulbous nose, Cleft palate, Short columella, I... |
ORPHA:364577 |
Ayme-Gripp Syndrome |
|
Pericarditis, Depressed nasal bridge, Short stature, Brachycephaly, Wide nasal bridge, Craniofaci... |
OMIM:601088 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... |
ORPHA:309854 |
Malan Syndrome |
|
Short nose, Overgrowth, Midface retrusion |
OMIM:614753 |
Cornelia De Lange Syndrome |
|
Brachycephaly, High palate, Gastroesophageal reflux, Atrial septal defect, Anteverted nares, Depr... |
ORPHA:199 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Iron deficiency anemia, Colitis, Hypoalbuminemia, Hypocalcemia,... |
ORPHA:37042 |
Familial Mediterranean Fever |
|
Intestinal obstruction, Pericarditis, Myocardial infarction, Malabsorption, Orchitis, Splenomegal... |
ORPHA:342 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Prominent nose, Cryptorchidism, Postnatal ... |
ORPHA:96191 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Short nose |
OMIM:300143 |
Otopalatodigital Syndrome, Type I |
|
Frontal bossing, Short stature, Wide nasal bridge, Cleft palate, Prominent occiput, Short nose |
OMIM:311300 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... |
OMIM:194380 |
Peters Plus Syndrome |
|
Polyhydramnios, Bicuspid pulmonary valve, Brachycephaly, Intestinal fistula, Anteverted nares, De... |
ORPHA:709 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, High, narrow palate, High palate, Decreased body weight, Hepatic steatosis... |
OMIM:619475 |
Distal Deletion 9P |
|
High, narrow palate, Wide nasal bridge, Cleft palate, Trigonocephaly, Short nose, Midface retrusion |
ORPHA:1642 |
Stuve-Wiedemann Syndrome 1 |
|
Frontal bossing, Anteverted nares, Short stature, Oligohydramnios, Smooth tongue, Dysphagia, Pulm... |
OMIM:601559 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of... |
ORPHA:171 |
Gray Platelet Syndrome |
|
Epistaxis, Abnormal number of alpha granules, Splenomegaly, Menorrhagia, Thrombocytopenia |
OMIM:139090 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares |
ORPHA:228384 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Eleva... |
OMIM:256040 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Frontal bossing, Wide nose, Depressed nasal bridge, Esophageal atresia, Congenital hepatic fibros... |
ORPHA:93271 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Fetal ascites, Prominent nose, Brachycephaly, High palate, Hypocalcemia, Subvalvular aortic steno... |
OMIM:619503 |
Adenylosuccinase Deficiency |
|
Growth delay, Short nose, Anteverted nares, Brachycephaly |
OMIM:103050 |
Premature Aging Syndrome, Penttinen Type |
|
Frontal bossing, Aplasia of the nasal bone, Prominent nasal bridge, Convex nasal ridge, Corneal s... |
OMIM:601812 |
Pfeiffer Syndrome Type 2 |
|
Cloverleaf skull, Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Cleft palate, ... |
ORPHA:93259 |
Trisomy 20P |
|
Frontal bossing, Anteverted nares, Cryptorchidism, Brachycephaly, Plagiocephaly, Ectopic anus, Do... |
ORPHA:261318 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim... |
OMIM:614162 |
Rothmund-Thomson Syndrome, Type 2 |
|
Frontal bossing, Small for gestational age, Depressed nasal bridge, Short stature, Cryptorchidism... |
OMIM:268400 |
Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, Ureteral agenesis, Duplication o... |
ORPHA:141099 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Anteverted nares, Short stature, Congestive heart failure, Obesity, Ab... |
ORPHA:444077 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, We... |
ORPHA:71493 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Ruvalcaba Syndrome |
|
Cryptorchidism, Delayed puberty, Intrauterine growth retardation, Short nose, Convex nasal ridge |
ORPHA:3121 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Cleft palate, High palate, Arrh... |
OMIM:164200 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Johanson-Blizzard Syndrome |
|
Convex nasal ridge, Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypo... |
OMIM:243800 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Frontal bossing, Abnormal heart valve morphology, Anteverted nares, Sagittal craniosynostosis, De... |
ORPHA:536471 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Delayed um... |
OMIM:608203 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Stickler Syndrome |
|
Anteverted nares, Depressed nasal bridge, Cachexia, Short stature, Short hard palate, Depressed n... |
ORPHA:828 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Anophthalmia |
ORPHA:1101 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Chron... |
ORPHA:90033 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal heart valve morphology, Depressed nasal bridge, Cleft palate, Glossoptosis, Abnormal car... |
ORPHA:90652 |
Wiedemann-Steiner Syndrome |
|
Short stature, Rhizomelia, Postnatal growth retardation, Wide nasal bridge, Dysphagia, Gastroesop... |
ORPHA:319182 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Prominent nasal bridge, Underdeveloped nasal alae, Splenomeg... |
ORPHA:163746 |
Fraser Syndrome 1 |
|
Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Bilateral microphthalmos, Renal hypoplasia, ... |
OMIM:219000 |
Holoprosencephaly 9 |
|
Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Frontal bossing, Short nose, Severe postnatal growth retardation |
OMIM:266810 |
Fraser Syndrome 2 |
|
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Hypoplasia of the t... |
OMIM:617666 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Complete atrioventricular canal defect, High palate, Short nose, Failure to thrive |
ORPHA:476126 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Atrial septal defect, Abnormal nasopharynx morphology, Anteverted nares, Depressed nasal bridge, ... |
OMIM:269150 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Waardenburg Syndrome Type 1 |
|
Aganglionic megacolon, Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Short nose |
ORPHA:894 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Leukemia, Anophthalmia |
ORPHA:2526 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Frontal bossing, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Postnatal growth ret... |
ORPHA:536467 |
Microphthalmia, Syndromic 1 |
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Aganglionic megacolon, Bicuspid aortic valve, High, narrow palate, Rectal prolapse, Pyloric steno... |
OMIM:309800 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Sple... |
OMIM:602450 |
Behçet Disease |
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Gastrointestinal hemorrhage, Aortic regurgitation, Pericarditis, Myocardial infarction, Malabsorp... |
ORPHA:117 |
Multiple Myeloma |
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Tall stature, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functio... |
ORPHA:29073 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
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Frontal bossing, Depressed nasal bridge, Polyhydramnios, Cryptorchidism, Cleft palate, Short nose |
ORPHA:1812 |
Warburg Micro Syndrome 2 |
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Prominent nasal bridge, Postnatal growth retardation, Cryptorchidism, Brachycephaly, Short nose |
OMIM:614225 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Aortic regurgitation, Tricuspid regurgitation, Intestinal malrotation, Hiatus hernia, Cryptorchid... |
OMIM:601776 |
Cadds |
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Cholangitis, Cholestasis, Increased circulating very long-chain fatty acid concentration, Intraut... |
ORPHA:369942 |
Cerebrooculonasal Syndrome |
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Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Spherocytosis, Type 4 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Specc1L-Related Hypertelorism Syndrome |
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Ventricular septal defect, Prominent nasal bridge, Cryptorchidism, Brachycephaly, Wide nasal brid... |
ORPHA:1519 |
Dend Syndrome |
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Short nose, Anteverted nares, Elevated hemoglobin A1c, Dehydration |
ORPHA:79134 |
Holoprosencephaly 7 |
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Bilateral cleft palate, Frontal bossing, Flat occiput, Flat nasal alae, Cranial asymmetry, Wide n... |
OMIM:610828 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Frontal bossing, Short nose |
OMIM:256600 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
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Short nose, Joint hemorrhage, Epistaxis, Cerebral hemorrhage |
OMIM:277450 |
Acrofacial Dysostosis, Catania Type |
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Short stature, Premature birth, Cryptorchidism, Intrauterine growth retardation, Short nose |
ORPHA:1786 |
Spherocytosis, Type 1 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
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Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... |
ORPHA:480536 |
Wilson Disease |
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Decreased circulating ceruloplasmin concentration, Edema, Pedal edema, Hypoalbuminemia, Hepatic s... |
OMIM:277900 |
Fraser Syndrome |
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Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, U... |
ORPHA:2052 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
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Depressed nasal bridge, Small for gestational age, Short stature, Cryptorchidism, High palate, Hy... |
OMIM:300661 |
Rhombencephalosynapsis |
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Anteverted nares, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Short nos... |
ORPHA:59315 |
Li-Fraumeni Syndrome |
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Acute myeloid leukemia, Neoplasm of the pancreas, Testicular neoplasm, Neoplasm of the rectum, Ac... |
ORPHA:524 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Short stature, Intestinal malrotation, Cleft soft palate, Convex nasal ridge, Leukocytosis, Abdom... |
OMIM:619321 |
Charge Syndrome |
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Anophthalmia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia, Micropenis, Hydronephrosis |
ORPHA:138 |
Sclerosing Cholangitis, Neonatal |
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Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Frontal bossing, Depressed nasal bridge, Anteverted nares, Rhizomelia, Bulbous nose, Disproportio... |
OMIM:271510 |
Chromosome 16P13.3 Duplication Syndrome |
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Midface retrusion, Wide nose, Ventricular septal defect, Anteverted nares, Depressed nasal bridge... |
OMIM:613458 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Hepatomegaly, Lymphopenia, Hypertriglyceridemia, Periorbital edema, Thrombocytopenia, Splenomegal... |
OMIM:617591 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
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Anteverted nares, Cleft soft palate, Short stature, Cryptorchidism, Wide nasal bridge, Submucous ... |
ORPHA:2282 |
Penile Agenesis |
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Ventricular septal defect, Depressed nasal bridge, Rectal fistula, Cryptorchidism, Fetal pyelecta... |
ORPHA:49 |
Charge Syndrome |
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Anophthalmia, Renal agenesis, Unilateral microphthalmos, Horseshoe kidney, Renal hypoplasia, Hypo... |
OMIM:214800 |
Immunodeficiency 47 |
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Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Decreased circulating... |
OMIM:300972 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
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Depressed nasal bridge, Long nose, Right bundle branch block, High palate, Short nose |
OMIM:618590 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc... |
OMIM:301078 |
Hyperlipoproteinemia, Type Id |
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Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... |
OMIM:615947 |
Mucopolysaccharidosis Type 2, Severe Form |
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Wide nose, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature, S... |
ORPHA:217085 |
Toriello-Lacassie-Droste Syndrome |
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Anteverted nares, Aganglionic megacolon, Polyhydramnios, Growth delay, Short nose, Failure to thrive |
ORPHA:3339 |
Carney Complex |
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Neoplasm of the stomach, Increased body weight, Leydig cell neoplasia, Abnormal sperm motility, N... |
ORPHA:1359 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
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Abnormal nostril morphology, Anosmia, Hypogonadotropic hypogonadism, Short nose |
ORPHA:1295 |
Congenital Tracheomalacia |
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Ventricular septal defect, Premature birth, Cardiomegaly, Esophageal atresia, Partial anomalous p... |
ORPHA:95430 |
Absent Radius-Anogenital Anomalies Syndrome |
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Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia, Oligohydramnios |
ORPHA:3016 |
Gapo Syndrome |
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Frontal bossing, Hepatomegaly, Anteverted nares, Depressed nasal bridge, High, narrow palate, Pla... |
OMIM:230740 |
Immunodeficiency 82 With Systemic Inflammation |
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Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... |
OMIM:619381 |
Focal Dermal Hypoplasia |
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Ureteral duplication, Anophthalmia, Horseshoe kidney, Aniridia, Microphthalmia, Bifid ureter, Hyd... |
OMIM:305600 |
Isolated Biliary Atresia |
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Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Conjugated ... |
ORPHA:30391 |
Cenani-Lenz Syndrome |
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High, narrow palate, Short nose, Frontal bossing, Convex nasal ridge |
ORPHA:3258 |
Mietens Syndrome |
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Wide nose, Severe short stature, Wide nasal bridge, Short nose |
ORPHA:2557 |
Omodysplasia 1 |
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Frontal bossing, Ventricular septal defect, Depressed nasal bridge, Rhizomelia, Cryptorchidism, W... |
OMIM:258315 |
Autosomal Recessive Malignant Osteopetrosis |
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Hepatomegaly, Abnormal pulmonary valve morphology, Craniosynostosis, Splenomegaly, Lymphadenopath... |
ORPHA:667 |
Difference Of Sex Development-Intellectual Disability Syndrome |
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Short nose, Hypogonadism |
ORPHA:2983 |
Jaberi-Elahi Syndrome |
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Short nose, Failure to thrive, Depressed nasal bridge |
OMIM:617988 |
Paroxysmal Nocturnal Hemoglobinuria |
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Myocardial infarction, Pulmonary embolism, Odynophagia, Leukopenia, Erythroid hyperplasia, Hemoly... |
ORPHA:447 |
Brain Malformations With Or Without Urinary Tract Defects |
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Short nose, Failure to thrive, Anteverted nares |
OMIM:613735 |
Molybdenum Cofactor Deficiency, Complementation Group B |
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Frontal bossing, Hypouricemia, Growth delay, Neonatal death, Short nose |
OMIM:252160 |
Robinow Syndrome, Autosomal Recessive 1 |
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Frontal bossing, Anteverted nares, Depressed nasal bridge, Short stature, Cryptorchidism, Wide na... |
OMIM:268310 |
White-Kernohan Syndrome |
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Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Obesity, Anteriorly placed a... |
OMIM:619426 |
Cardiac-Urogenital Syndrome |
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Accessory spleen, Penoscrotal hypospadias, Patent urachus, Micropenis, Enlarged kidney |
OMIM:618280 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
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Short nose |
OMIM:618087 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Plaa-Associated Neurodevelopmental Disorder |
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Edema of the dorsum of feet, Edema of the dorsum of hands, High palate, Impaired oropharyngeal sw... |
ORPHA:521426 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Narrow nasal ridge, Hyperlipidemia, Growth delay, High palate, Short nose |
OMIM:608612 |
Truncus Arteriosus |
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Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... |
ORPHA:3384 |
Schinzel-Giedion Syndrome |
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Frontal bossing, Streak ovary, Aganglionic megacolon, Failure to thrive in infancy, Broad nasal t... |
ORPHA:798 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Atrial septal defect, Frontal bossing, Failure to thrive in infancy, Depresse... |
ORPHA:500150 |
Nicolaides-Baraitser Syndrome |
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Narrow nasal bridge, Anteverted nares, Short stature, High, narrow palate, Cryptorchidism, Bulbou... |
OMIM:601358 |
Monosomy 9Q22.3 |
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Large for gestational age, Cardiac fibroma, Trigonocephaly, Short nose, Tall stature |
ORPHA:77301 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Ventricular septal defect, Anteverted nares, Choanal atresia, Partial anomalous pulmonary venous ... |
OMIM:301044 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Calcinosis, Short stature, Hyperlipidemia, Delayed puberty, Short nose, Convex nasal ridge |
ORPHA:90154 |
Bartsocas-Papas Syndrome |
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Short nose, Cleft palate, Underdeveloped nasal alae |
ORPHA:1234 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Frontal bossing, Anteverted nares, Prominent nasal bridge, Short stature, Brachycephaly, High pal... |
ORPHA:1974 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
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Depressed nasal bridge, Cryptorchidism, Brachycephaly, Cleft palate, Growth delay, Short nose |
OMIM:601353 |
C Syndrome |
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Failure to thrive in infancy, Anteverted nares, Depressed nasal bridge, Short stature, Polyhydram... |
ORPHA:1308 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, True anophthalmia, Horseshoe kidney |
ORPHA:1106 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Gastroesophageal reflux, Atrial septal defect, Prominent nasal tip, Short nose, Brachyturricephaly |
ORPHA:522077 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Anteverted nares, Prominent nasal bridge, Proportionate short stature, Cryptorchidism, Brachyceph... |
OMIM:227330 |
Granulomatous Disease, Chronic, X-Linked |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Small for gestational age, Depressed nasal bridge, Craniosynostosis, Broad nasal tip, Short statu... |
OMIM:309590 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Edema, High palate, Dysphagia, Short nose, Failure to thrive |
OMIM:617527 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased fertil... |
OMIM:269700 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
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Juvenile gastrointestinal polyposis, Epistaxis, Mitral valve prolapse, Hematochezia, Hamartomatou... |
OMIM:175050 |
Nablus Mask-Like Facial Syndrome |
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Frontal bossing, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Cryptorchidism, Wide... |
OMIM:608156 |
Robinow Syndrome, Autosomal Dominant 1 |
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Frontal bossing, Anteverted nares, Depressed nasal bridge, Short stature, Rhizomelia, Cryptorchid... |
OMIM:180700 |
Temtamy Preaxial Brachydactyly Syndrome |
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Growth delay, Short nose, Short stature |
ORPHA:363417 |
Witteveen-Kolk Syndrome |
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Polyhydramnios, High, narrow palate, Intracranial hemorrhage, High palate, Gastroesophageal reflu... |
OMIM:613406 |
Noonan Syndrome |
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Thickened nuchal skin fold, Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal pulmonary valve... |
ORPHA:648 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Microphthalmia, Syndromic 2 |
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Microphthalmia, Anophthalmia, Hypospadias |
OMIM:300166 |
Autosomal Dominant Robinow Syndrome |
|
Frontal bossing, Wide nose, Severe short stature, Anteverted nares, Depressed nasal bridge, Short... |
ORPHA:3107 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Frontal bossing, Ventricular septal defect, Broad nasal tip, Scaphocephaly, Brachycephaly, Wide n... |
OMIM:620330 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve... |
ORPHA:77293 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Monosomy 9P |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Cryptorchidism, Brachycephaly, Cleft p... |
ORPHA:261112 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Calcinosis, Raynaud phenomenon, Splenomegaly, Jaundice... |
OMIM:613471 |
Bartsocas-Papas Syndrome 1 |
|
Decreased fetal movement, Anal stenosis, Underdeveloped nasal alae, Bilateral cryptorchidism, Cle... |
OMIM:263650 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Femoral-Facial Syndrome |
|
Ventricular septal defect, Short stature, Underdeveloped nasal alae, Cryptorchidism, Cleft palate... |
OMIM:134780 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Narrow nasal ridge, Hyp... |
OMIM:606721 |
Pallister-Hall Syndrome |
|
Decreased testicular size, Ventricular septal defect, Choanal atresia, Trigonocephaly, Large for ... |
ORPHA:672 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Brachycephaly, Midline defect of the nose, Bifid nose, Midface retrusi... |
OMIM:229400 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Ventricular septal defect, Anteverted nares, Short stature, Broad nasal tip, Long nose, Cryptorch... |
OMIM:619522 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lympha... |
OMIM:181000 |
Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia, Renal hypoplasia |
OMIM:607932 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... |
ORPHA:447877 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Renal agenesis, Hypospadias, Renal cyst, Microphthalmia |
OMIM:113620 |
Leukocyte Adhesion Deficiency, Type I |
|
Elevated circulating C-reactive protein concentration, Delayed umbilical cord separation, Leukocy... |
OMIM:116920 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Growth delay, Frontal bossing, Short nose, Hypouricemia |
OMIM:252150 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Craniosynostosis, Parietal foramina, Cryptorchidism, Wide nasal bridge, High palate, Total anomal... |
OMIM:609945 |
Spondylocarpotarsal Synostosis Syndrome |
|
Frontal bossing, Anteverted nares, Broad nasal tip, Disproportionate short-trunk short stature, C... |
OMIM:272460 |
Malakoplakia |
|
Follicular hyperplasia, Orchitis, Abnormality of the menstrual cycle, Neoplasm of the rectum, Neo... |
ORPHA:556 |
Sponastrime Dysplasia |
|
Frontal bossing, Aplasia of the nasal bone, Wide nose, Small for gestational age, Anteverted nare... |
ORPHA:93357 |
Acromesomelic Dysplasia 1 |
|
Frontal bossing, Short nose, Disproportionate short stature |
OMIM:602875 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Recurrent sinusitis, Neutropenia, Failure to thrive |
OMIM:601495 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Plague |
|
Hepatomegaly, Tachycardia, Edema, Hematemesis, Lymphadenitis, Splenomegaly, Enterocolitis, Endoca... |
ORPHA:707 |
Aspartylglucosaminuria |
|
Hepatomegaly, Malabsorption, Splenomegaly, Wide nasal bridge, Macroglossia, Macroorchidism, Short... |
ORPHA:93 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Streak ovary, Jejunal atresia, Acrania, Ileal atresia, Cryptorchidism,... |
OMIM:618820 |
Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Polyhydramnios, Anteriorly placed anus, Premature rupture of membran... |
OMIM:601803 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux... |
OMIM:164210 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Depressed nasal bridge, Short stature, Polyhydramnios, Splenomegaly, Aplasia of the... |
OMIM:617088 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, D... |
ORPHA:454840 |
Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Depressed nasal bridge, Narrow naris |
OMIM:122880 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Frontal bossing, Depressed nasal bridge, Depressed nasal ridge, Concave nasal ridge, High palate,... |
OMIM:271665 |
Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Frontal bossing, Depressed nasal bridge, Underdeveloped nasal alae, Rhinitis, Short nose |
OMIM:305100 |
Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Short nose |
OMIM:614863 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Cryptor... |
OMIM:618332 |
Alström Syndrome |
|
Hypoplasia of the Leydig cells, Hepatic fibrosis, Gastroesophageal reflux, Hepatic steatosis, Hep... |
ORPHA:64 |
1P21.3 Microdeletion Syndrome |
|
Short nose, Obesity, Broad nasal tip |
ORPHA:293948 |
Sacral Defect With Anterior Meningocele |
|
Rectal abscess, Hydromyelia |
OMIM:600145 |