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Gene: Ppp2r5c MGI:1349475

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Gene Summary

Name:
protein phosphatase 2, regulatory subunit B', gamma
Synonyms:
2610043M05Rik,  D12Bwg0916e,  Band 8A,  2700063L20Rik,  B56/PP2A gamma

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
increased mean corpuscular hemoglobin Ppp2r5cem1(IMPC)Mbp HOM Early adult 2.79×10-05
irregularly shaped pupil Ppp2r5cem1(IMPC)Mbp HOM Early adult 6.17×10-15
shortened ST segment Ppp2r5cem1(IMPC)Mbp HOM Early adult 2.47×10-06
increased circulating alkaline phosphatase level Ppp2r5cem1(IMPC)Mbp HOM Early adult 5.89×10-05
abnormal placement of pupils Ppp2r5cem1(IMPC)Mbp HOM Early adult 3.65×10-11
decreased lean body mass Ppp2r5cem1(IMPC)Mbp HOM Early adult 1.25×10-05
abnormal spleen morphology Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
shortened QT interval Ppp2r5cem1(IMPC)Mbp HOM Early adult 9.87×10-05
increased heart weight Ppp2r5cem1(IMPC)Mbp HOM Early adult 3.08×10-08
abnormal heart morphology Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
decreased circulating cholesterol level Ppp2r5cem1(IMPC)Mbp HOM Early adult 5.76×10-05
decreased startle reflex Ppp2r5cem1(IMPC)Mbp HOM Early adult 7.17×10-10
increased neutrophil cell number Ppp2r5cem1(IMPC)Mbp HOM Early adult 5.50×10-05
decreased grip strength Ppp2r5cem1(IMPC)Mbp HOM Early adult 1.68×10-15
increased mean corpuscular volume Ppp2r5cem1(IMPC)Mbp HOM Early adult 4.39×10-10
enlarged spleen Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Ppp2r5cem1(IMPC)Mbp HOM   Early adult 8.63×10-06
abnormal lymph node morphology Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
increased blood urea nitrogen level Ppp2r5cem1(IMPC)Mbp HOM Early adult 5.53×10-05
increased total body fat amount Ppp2r5cem1(IMPC)Mbp HOM Early adult 1.11×10-05
increased monocyte cell number Ppp2r5cem1(IMPC)Mbp HOM Early adult 7.53×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Ppp2r5c mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ppp2r5c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia, Intenti... OMIM:610539
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive, Gait disturbance, Pallor ORPHA:79283
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear... ORPHA:90065
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome... OMIM:619644
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Ataxia, Obesity OMIM:620270
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Dementia, Hepatomegaly ORPHA:2274
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Intrinsic Factor Deficiency
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... OMIM:261000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J... OMIM:603552
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Mitral ... OMIM:612561
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert... ORPHA:263297
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Paresthesia, Pallor, Im... ORPHA:90064
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Heart block... ORPHA:398124
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... OMIM:616860
Trimethylaminuria
Tachycardia, Splenomegaly, Depression, Hypertension, Neutropenia, Anemia OMIM:602079
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy, Pallor, Lethargy, Hypertrophic cardiomyopathy, ... OMIM:613561
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... ORPHA:49827
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... ORPHA:57777
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, T lymphocytopenia, Ectopia pupillae, Contracture of the proximal interphal... OMIM:618223
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Mantle Cell Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Hypertension, Ectopia pupillae, Cognitive impairment ORPHA:1885
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Pterygium, Cardiac arrest, Cardiomegaly, Left ven... OMIM:618052
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Gait disturbance, Obesity ORPHA:436141
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n... OMIM:617872
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... OMIM:613243
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98855
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypertension, Abnormalit... ORPHA:2169
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Tremor, Splenomegaly, Choreoathetosis, Irritability, Dystonia,... OMIM:612126
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST... OMIM:261740
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98853
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... OMIM:613507
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... OMIM:253300
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Myofibrillar Myopathy 10
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont... OMIM:619040
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... ORPHA:98870
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... OMIM:612541
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... ORPHA:98863
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Fallot Complex With Severe Mental And Growth Retardation
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,... OMIM:601127
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... ORPHA:811
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... OMIM:608971
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Pallor ORPHA:71518
Congenital Toxoplasmosis
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Cogn... ORPHA:858
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Lethargy, Hypertrophic car... ORPHA:276556
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Cataract OMIM:619813
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Cyclic Vomiting Syndrome
Cardiomyopathy, Ataxia, Pallor, Lethargy OMIM:500007
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, High-output congestive heart failur... ORPHA:231226
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance, Left ventricular hypertro... ORPHA:93952
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Eisenmenger Syndrome
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... ORPHA:97214
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Proximal muscle weakness in lower limbs, Distal lower limb ... ORPHA:171706
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Broad-based gait, Ataxia, Inability to walk, Obesity OMIM:616756
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatosplenomegaly, Decr... OMIM:609628
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count OMIM:615592
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi... ORPHA:231214
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Ethanolaminosis
Cardiomegaly OMIM:227150
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Lethargy, Hypertrophic car... ORPHA:276575
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly OMIM:619175
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Pancreatic steatosis, T... OMIM:617052
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Conge... OMIM:269920
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Large for gestational age, Syncope, Palpitations, Pallor, Lethargy, Hypertrophic car... ORPHA:276580
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circ... OMIM:613179
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... OMIM:209950
Sandhoff Disease
Hepatomegaly, Splenomegaly, Congestive heart failure, Progressive psychomotor deterioration, Moto... ORPHA:796
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Narcolepsy Type 1
Syncope, Obesity ORPHA:2073
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Chorea, Aplasia/Hypoplasia... ORPHA:3099
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, Impaired pain sensation, Unsteady gait, Obesity, Distal sensory impairment, Loss of ambul... OMIM:618124
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Transient ischemic attack, Confusion, Myocardial infarction, Tremor, Jaundice, S... OMIM:274150
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Dystonia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Choreoathetosis, Cardiomy... ORPHA:79312
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect, Choreoathetosis OMIM:614249
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior chamber, Atrial sep... OMIM:602482
Myopathy, Tubular Aggregate, 1
Joint contracture, Abnormal pupil morphology, Flexion contracture, Elevated circulating creatine ... OMIM:160565
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia ORPHA:100025
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Muscular Dystrophy, Becker Type
Cardiomyopathy, Arrhythmia, Abnormal EKG, Elevated circulating creatine kinase concentration OMIM:300376
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Epistaxis, Elevated circulating C-reactive protein concentration,... OMIM:614034
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... ORPHA:26793
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Optic Atrophy 1
Ataxia, Pallor OMIM:165500
Cranioacrofacial Syndrome
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger ORPHA:1937
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Short attention span, Hypercalcemia, Confusion, Hematemesis, Shortened ... ORPHA:652
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Cellulitis, Acute lymphoblastic leukemia, ... ORPHA:486
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Ly... OMIM:618886
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... OMIM:613845
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Obesi... OMIM:615996
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden... ORPHA:31150
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho... OMIM:607765
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Shortened QT interval, Weight loss, Hypophosphatemia, L... ORPHA:143
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... ORPHA:90044
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Dystonia, Failure to th... OMIM:618278
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Obesity, Telangiectasia... ORPHA:459033
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... OMIM:601005
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Ataxia, Thenar muscle atrophy, Impaired distal vibration sensation, Impa... OMIM:604360
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the pancreas, Abnormal lym... ORPHA:543
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... ORPHA:1067
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Autoimmune Hypoparathyroidism
Prolonged QT interval, Cataract, Ventricular arrhythmia, Confusion, Depression, Abnormal left ven... ORPHA:36913
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Primary Lateral Sclerosis, Juvenile
Loss of ambulation, Pallor, Spasticity of facial muscles, Spastic gait OMIM:606353
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Irritability, Dystonia, Thrombocytopenia OMIM:615010
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Acute pancreatit... ORPHA:466677
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Hepat... OMIM:607115
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypercalcemia, Shortened QT interval, Hypophosphatemia, Lipoma, Pancre... ORPHA:99880
Castleman Disease
Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive protein concentratio... ORPHA:160
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Elevated circulating creatine kinase concentration ORPHA:101082
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Dystonia, Corneal opacity, Elevated circulating creatine kinase concentration, ... OMIM:175780
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity OMIM:615981
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia ORPHA:100024
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Recessive Mitochondrial Ataxia Syndrome
Increased serum pyruvate, ST segment elevation, Cognitive impairment ORPHA:94125
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect OMIM:615731
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hepatomegaly, Angina pectoris, Corneal opacity, Splenome... ORPHA:79292
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... OMIM:235400
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect, Gait ataxia OMIM:619717
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Diamond-Blackfan Anemia
Acute myeloid leukemia, Ventricular septal defect, Small for gestational age, Pure red cell aplas... ORPHA:124
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... OMIM:612840
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Increased mean corpu... OMIM:612562
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Tachycardia, Increased body weight, Pallor ORPHA:276608
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,... OMIM:602390
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Neutrophilia OMIM:617585
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacu... OMIM:256550
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Mehmo Syndrome
Small for gestational age, Inability to walk, Obesity, Gait ataxia, Difficulty walking OMIM:300148
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elev... OMIM:613327
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscul... ORPHA:261250
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Joint contracture, Cataract, Elevated circulating creatine kinase concentr... OMIM:615351
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomeg... OMIM:612526
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Tularemia
Brain abscess, Tachycardia, Confusion, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, ... ORPHA:3392
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Anemia, Hypertension, Neoplasm of the liver, Weight loss, Irritab... ORPHA:69077
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia ORPHA:37748
Myopathy, Mitochondrial, And Ataxia
Ataxia, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Multiple lipomas, D... OMIM:617675
Paternal Uniparental Disomy Of Chromosome 1
Hypercalcemia, Abnormal dental enamel morphology, Progressive psychomotor deterioration, Obesity,... ORPHA:251004
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Confusion, Splenomegaly, Jaundice, Depression, Hypertension OMIM:121300
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Dystonia, Hepatomegaly ORPHA:139406
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Spontaneous Periodic Hypothermia
Arrhythmia, Ataxia, Pallor, Gait disturbance ORPHA:29822
Catel-Manzke Syndrome
Atrial septal defect, Failure to thrive, Ventricular septal defect, Camptodactyly of finger ORPHA:1388
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... OMIM:212050
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Congestiv... OMIM:235200
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Small for gestational age, Large for gestational age, Syncope, Palpitations, Pallor,... ORPHA:324575
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:611762
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Scarring alopecia of scalp, Ectopia pupillae, Astigmatism, Enamel hypoplasia OMIM:618727
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... OMIM:615779
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation ORPHA:85167
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic st... OMIM:614480
Leber Congenital Amaurosis 14
Falls, Pallor OMIM:613341
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentration OMIM:309930
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splen... ORPHA:93476
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Obesity, Myocardial infarction OMIM:608320
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... OMIM:249670
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Celluli... OMIM:618986
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... ORPHA:1354
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Cognitive impairment, Failure to... ORPHA:172
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:86893
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... OMIM:612926
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Gitelman Syndrome
Prolonged QT interval, Neoplasm of the pancreas, Failure to thrive, Pericardial effusion, Raynaud... ORPHA:358
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Weight loss ORPHA:79238
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Cockayne Syndrome Type 1
Hepatomegaly, Cataract, Foot joint contracture, Scarring, Tremor, Uveitis, Hypertension, Conjunct... ORPHA:90321
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Budd-Ch... OMIM:127550
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... ORPHA:158061
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Confusion, Cardiomegaly, Conges... OMIM:212140
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Confusion, Increased cir... ORPHA:71212
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Heart mu... OMIM:615418
Proteus-Like Syndrome
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal dermoid, Heterochro... ORPHA:2969
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia, Dry skin, Obesity ORPHA:1035
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... OMIM:612924
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Failure to thrive, Acanth... ORPHA:14
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a... OMIM:612925
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Elevated circulating C-reactive protein concentrati... ORPHA:85414
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Cardiomegaly, Pericardial effusion, Hyperammonemia,... OMIM:614702
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... OMIM:620282
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Hypergalactosemia, Failure to thrive OMIM:230350
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... ORPHA:90647
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt... OMIM:300842
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... OMIM:620135
Gaucher Disease Type 2
Hepatomegaly, Cardiac arrest, Splenomegaly, Flexion contracture, Dystonia ORPHA:77260
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum... OMIM:620010
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Microvesicular hepatic steatosis, Muscular ventricular septal defect, Dila... ORPHA:66634
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphad... OMIM:257200
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Adenocarcinoma Of The Esophagus
Obesity, Lymphadenopathy ORPHA:99976
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non... OMIM:603909
Intellectual Developmental Disorder, Autosomal Recessive 79
Broad-based gait, Ventricular septal defect, Gait ataxia OMIM:620393
Squalene Synthase Deficiency
Bicuspid aortic valve, Failure to thrive in infancy, Increased circulating farnesol concentration... OMIM:618156
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Cardiomyopathy, Endocardial fibroelastosis, Ar... ORPHA:2119
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71529
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Developmental cataract, Hypocholesterolemia, Neonatal death, Hypertrophic cardiomyo... OMIM:618810
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Ventricular septal defect OMIM:614876
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Babesiosis
Hemolytic anemia, Hepatomegaly, Confusion, Myocardial infarction, Splenomegaly, Congestive heart ... ORPHA:108
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Syncope, Or... ORPHA:230
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Diffuse a... OMIM:616050
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Uveitis, Hepatosplenomegaly, Lymphaden... OMIM:615122
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... OMIM:603553
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... ORPHA:98850
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Abnormality of the musculature of the lower limbs, Ataxia, Unsteady gait, Obesity,... ORPHA:464282
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Rafiq Syndrome
Ataxia, Flexion contracture, Obesity, Cutis laxa, Truncal obesity OMIM:614202
Peripheral Cone Dystrophy
Pallor OMIM:609021
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial... ORPHA:3226
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemi... ORPHA:466650
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... OMIM:300257
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis ORPHA:157991
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Pericarditis, Pericardial effusion, Tremor, Abnormal subcutaneous fat tissue distri... OMIM:212065
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Potocki-Lupski Syndrome
Small for gestational age, Hypocholesterolemia, Atrial septal defect, Failure to thrive, Patent f... OMIM:610883
Congenital Myopathy 9A
Death in infancy, EMG: myopathic abnormalities, Obesity, Akinesia OMIM:618822
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Acute Myelomonocytic Leukemia
Pallor, Weight loss ORPHA:517
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... ORPHA:545
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... ORPHA:64743
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contr... OMIM:617591
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... ORPHA:824
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Dextrotransposition of the great arteries, Abnormality of blood circ... ORPHA:860
Baralle-Macken Syndrome
Inability to walk, Obesity, Striae distensae OMIM:619255
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Wolf-Hirschhorn Syndrome
Accessory spleen, Rieger anomaly, Ventricular septal defect, Small for gestational age, Biliary t... OMIM:194190
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Ventricular septal defect, Diastasis recti, Large for ges... ORPHA:254534
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture OMIM:608540
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-rea... ORPHA:829
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Abn... ORPHA:1414
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Arrhythmia, Gait disturbance, Camptodactyly of finger ORPHA:2928
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Immunodeficiency 96
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... OMIM:619774
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Tremor... OMIM:214500
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... OMIM:150550
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Developmental c... OMIM:616834
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:615524
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Increased circulating NT-proBNP concentr... ORPHA:85443
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... OMIM:232300
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, He... OMIM:278000
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Mulibrey Nanism
Hepatomegaly, Corneal dystrophy, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Ast... OMIM:253250
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosplenomegaly, Lym... OMIM:619750
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr... OMIM:618495
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Dil... OMIM:615895
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... OMIM:259720
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Hepatomegaly OMIM:269840
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper... OMIM:619046
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracra... ORPHA:251274
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Ataxia, Facial hypotonia, Flexion contracture, Obesity, Choreoathetosis, Bradykinesia, Shuffling ... OMIM:300055
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Chylomicron Retention Disease
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... OMIM:246700
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Abnormal heart morphology ORPHA:254525
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Failure to thrive, Absence of lymph node germinal center, T lymphocytope... ORPHA:277
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Lipodystrophy, Elevated circulating C-reactive protei... OMIM:617099
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Progressive neurologic deterioration, Splenomegaly, Depression, Demen... OMIM:231000
Congenital Rubella Syndrome
Hepatomegaly, Cataract, Ventricular septal defect, Corneal opacity, Splenomegaly, Jaundice, Anemi... ORPHA:290
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cachexia, Cardiomegaly, Hyperam... ORPHA:42
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Death in childhood OMIM:613759
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microcornea, Ectopia pupillae, Cataract, Sclerocornea OMIM:615877
Noonan Syndrome 8
Failure to thrive, Ventricular septal defect, Large for gestational age, Patent ductus arteriosus... OMIM:615355
Mevalonic Aciduria
Normocytic hypoplastic anemia, Cataract, Failure to thrive in infancy, Elevated circulating creat... OMIM:610377
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, Pulmonary arteria... OMIM:619051
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Cellulitis, Lymphadenopathy, Anemia, Weight loss, Bone ... ORPHA:47612
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... OMIM:616276
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Asymmetric septal... OMIM:252920
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Bardet-Biedl Syndrome 8
Situs inversus totalis, Obesity OMIM:615985
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,... OMIM:618838
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia, Abnormal pupil morphology ORPHA:2151
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Broad-based gait, Increased body weight, Macroglossia, Dr... OMIM:614450
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Obesity, Myocardial infarction OMIM:615703
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Mitral valve prolapse ORPHA:2233
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Cln3 Disease
Cataract, Vacuolated lymphocytes, Mental deterioration, Depression, T-wave inversion, Dementia, B... ORPHA:228346
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Ventricular septal defect, Eosinophi... OMIM:616651
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Sialidosis Type 2
Hepatomegaly, Inguinal hernia, Corneal opacity, Tremor, Splenomegaly, Flexion contracture, Umbili... ORPHA:87876
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... ORPHA:45452
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Alagille Syndrome
Keratoconus, Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Corneal dystrop... ORPHA:52
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100083
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Chorea, Choreoathetosis, Bradykinesia, Falls, Pallor ORPHA:13
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity, Increased adipose tissue ORPHA:71526
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia ORPHA:85447
Caspase 8 Deficiency
Splenomegaly, Failure to thrive, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Gray Platelet Syndrome
Splenomegaly, Epistaxis, Thrombocytopenia ORPHA:721
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter OMIM:616816
Congenital Sialidosis Type 2
Hepatomegaly, Abnormal EKG, Cataract, Corneal opacity, Inguinal hernia, Abnormal heart morphology... ORPHA:93400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Tachycardia, Eosinophilia,... ORPHA:98849
Legionnaires Disease
Hyponatremia, Pericarditis, Splenomegaly, Myocarditis, Jaundice, Hepatitis, Endocarditis, Lymphad... ORPHA:549
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Increased hepatocellular lipid droplets, Steatorrhea, Hypoc... ORPHA:71
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, Ly... OMIM:618048
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis OMIM:240500
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepatocellular carcinoma, Sp... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Inguinal hernia, Ventricular septal defect, Ataxia, Unsteady gait... OMIM:614947
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr... OMIM:310300
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Mitral valve prolapse ORPHA:2183
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Pallor, Decreased body weight, Atrial septal defect, Patent foramen ovale OMIM:609053
Familial Focal Epilepsy With Variable Foci
Paresthesia, Pallor ORPHA:98820
Summitt Syndrome
Obesity OMIM:272350
Short Syndrome
Posterior embryotoxon, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Lipod... ORPHA:3163
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... OMIM:266510
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Chédiak-Higashi Syndrome
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopi... ORPHA:167
Pfapa Syndrome
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:42642
Classic Mycosis Fungoides
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly ORPHA:2584
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Obesity, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Ar... ORPHA:3191
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hyp... OMIM:619064
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive ORPHA:261483
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Pallor, Failure to thrive ORPHA:99931
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cir... ORPHA:79301
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anisocytosis, Anemia ... OMIM:224120
Retinitis Pigmentosa 51
Pallor, Obesity OMIM:613464
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Obesity ORPHA:411515
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Depression, Emotional lab... ORPHA:101096
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity, Gait disturbance ORPHA:2429
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia ORPHA:75234
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lipodystrophy, Hypertension, Abdominal obesity, Myopathy, Muscular dystr... OMIM:615980
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Lambert Syndrome
Inguinal hernia, Ventricular septal defect, Failure to thrive in infancy ORPHA:1296
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Failure to... ORPHA:397596
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Pallor, Positive regiti... ORPHA:94080
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Chromosome 16P13.3 Deletion Syndrome, Proximal
Death in infancy, Failure to thrive, Hypoplastic left heart, Obesity OMIM:610543
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... OMIM:614262
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... OMIM:214900
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Corneal arcus, Joint contracture of the 5th finger, Atrial septal defect, Pancreati... OMIM:602782
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:540
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... OMIM:314050
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Obesity, Abnormal heart morphology, Choreoathetosi... ORPHA:261197
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... ORPHA:1209
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Facial hypotonia, First degree atrioventricular block, Patent ductus arterio... ORPHA:589821
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Lymphadenopathy, Failure to thrive, Reduced natural killer cell count OMIM:609981
Scrub Typhus
Anterior uveitis, Tremor, Myocarditis, Splenomegaly, Lymphadenopathy, Hypotension ORPHA:83317
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Rhizomelic Limb Shortening With Dysmorphic Features
Patent foramen ovale, Obesity OMIM:618821
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Refsum Disease, Classic
Cataract, Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentratio... OMIM:266500
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Elevated circulating creatine kinase concentration, Sudden cardiac death, Cardiomeg... OMIM:201475
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Myocardial infarction, Abn... ORPHA:447
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Ventricular septal defect, Elevated circulating... OMIM:615673
Graft Versus Host Disease
Tachycardia, Fasciitis, Dupuytren contracture, Lipodystrophy, Jaundice, Lymphadenopathy, Hepatosp... ORPHA:39812
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Hiatus hernia, Overweight, Persistence of hemoglobin F, Astigmatism, I... OMIM:619769
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Tachycardia, Hypoesthesia, Obesity, Lower limb muscle weakness OMIM:619737
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Ventricular septal defect, Mitral regurgitation, Disproportionate tall stature, Abdominal obesity... OMIM:301039
Pseudohypoparathyroidism Type 1B
Calcinosis, Prolonged QT interval, Cataract, Depression, Irritability, Hyperphosphatemia, Conjunc... ORPHA:94089
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Amelogene... OMIM:612783
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Dystonia, Thrombocytopenia OMIM:610333
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Intracr... ORPHA:85212
Megalencephaly
Atrial septal defect, Truncal obesity ORPHA:2477
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... OMIM:619846
Trigonocephaly With Short Stature And Developmental Delay
Small for gestational age, Inguinal hernia, Ventricular septal defect OMIM:314320
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure, Broad-based gait, Shuffling gait, Obesity ORPHA:3077
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Failure to thrive, Jaundice, Ly... ORPHA:276
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Congenital Myopathy 8
Congestive heart failure, Cardiomegaly OMIM:618654
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Dystonia, Elevated circulating creatine kinase concentration, Cardiac arrest, Elevated circulatin... OMIM:616878
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hyperuricemia, Hepatomegaly OMIM:261750
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Eosinophilia, Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Ataxia, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, ... OMIM:249270
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... OMIM:194380
Evans Syndrome
Epistaxis, Syncope, Pallor, Lethargy, Petechiae ORPHA:1959
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Kimura Disease
Lymphadenopathy, Eosinophilia, Follicular hyperplasia ORPHA:482
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small for gestational age, Inguinal hernia, Ventricular septal defect ORPHA:3369
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnor... ORPHA:39041
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... OMIM:618935
Laurence-Moon Syndrome
Ataxia, Obesity ORPHA:2377
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total... ORPHA:90037
Pediatric-Onset Graves Disease
Hepatomegaly, Atrial fibrillation, Tremor, Splenomegaly, Congestive heart failure, Jaundice, Kera... ORPHA:525731
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Amelogenes... ORPHA:169090
Pleural Mesothelioma
Hepatomegaly, Weight loss, Abnormal cardiovascular system physiology, Lymphadenopathy ORPHA:50251
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Radio-Tartaglia Syndrome
Ventricular septal defect, Ataxia, Obesity, Gait imbalance, Dry skin, Striae distensae OMIM:619312
Dravet Syndrome
Bradykinesia, Progressive gait ataxia, Pallor ORPHA:33069
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Pallor, Failure to t... OMIM:600462
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Akinesia, Dilated cardiomyopathy, Arthrogrypo... OMIM:607598
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Iris atrophy, Failure to thrive, Cataract, Bicuspid aortic valve, Ventricular septal defect, Abno... ORPHA:261552
Familial Dysautonomia
Hyponatremia, Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Corneal opaci... ORPHA:1764
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp... ORPHA:79083
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cardiomyopathy, Abnormal EKG, Cognitive impairment ORPHA:1177
Laurence-Moon Syndrome
Ataxia, Obesity OMIM:245800
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... ORPHA:137675
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... OMIM:618987
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... ORPHA:2348
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy, Ge... OMIM:619183
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight loss, Anemia, Kays... ORPHA:905
15Q24 Microdeletion Syndrome
Small for gestational age, Congenital diaphragmatic hernia, Obesity, Abnormal heart morphology, H... ORPHA:94065
Periventricular Nodular Heterotopia 7
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... OMIM:617201
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom... OMIM:619542
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Fa... OMIM:612946
Mowat-Wilson Syndrome
Cataract, Ventricular septal defect, Abnormal heart morphology, Microcornea, Ectopia pupillae, Pu... OMIM:235730
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Arrhythmia, Obesity, Subvalvular aortic stenosis OMIM:600430
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... ORPHA:91547
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:49041
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Large for gestational age, Increased body weight, Pallor, Lethargy ORPHA:263455
Free Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Athetosis, Ascites, Iris hypopigmentation ORPHA:834
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... OMIM:619371
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
American Trypanosomiasis
Hepatomegaly, Myocarditis, Splenomegaly, Congestive heart failure, Lymphadenopathy, Cardiomyopath... ORPHA:3386
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Elevated circulating creatine kinase concentration, Elevated... ORPHA:480864
Alg12-Cdg
Hyponatremia, Muscular ventricular septal defect, Biventricular hypertrophy, Camptodactyly, B lym... ORPHA:79324
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Keloids, Ventricular septal defect ORPHA:357225
Schaaf-Yang Syndrome
Failure to thrive in infancy, Inability to walk, Flexion contracture, Obesity, Camptodactyly, Art... OMIM:615547
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Alexander Disease
Microcoria OMIM:203450
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... OMIM:255160
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Broad-based gait, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Failure to ... ORPHA:477817
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Obesity, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, Difficulty walking, I... ORPHA:98907
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Achil... OMIM:310200
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Tremor, Splenomegaly, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:616719
Dextrocardia
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal heart mor... ORPHA:1666
Den Hoed-De Boer-Voisin Syndrome
Ventricular septal defect, Ataxia, Overweight, Inability to walk, Obesity, Death in adolescence, ... OMIM:619229
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Whipple Disease
Hyponatremia, Hepatomegaly, Pericarditis, Gastrointestinal hemorrhage, Myocardial infarction, Cac... ORPHA:3452
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Woolly Hair
Abnormal pupil morphology, Cataract ORPHA:170
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Summitt Syndrome
Camptodactyly of finger, Obesity, Tall stature ORPHA:3210
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Obesity, Weight loss, Hypertrophic car... ORPHA:251071
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... OMIM:615279
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension OMIM:614651
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym... ORPHA:83469
Congenital Enterovirus Infection
Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Thrombocytopenia, Leukocytos... ORPHA:292
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent duc... OMIM:618652
Borjeson-Forssman-Lehmann Syndrome
Obesity OMIM:301900
Pseudohypoparathyroidism Type 2
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngea... ORPHA:94090
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy OMIM:617772
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Steatorrhea, Ascites, Anemia ORPHA:75233
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Breath-Holding Spells
Pallor OMIM:607578
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Hepatosplenomegal... OMIM:608013
Sézary Syndrome
Hepatomegaly, Tremor, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:3162
Temple Syndrome
Small for gestational age, Overweight, Flexion contracture, Obesity, Truncal obesity OMIM:616222
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... ORPHA:50918
Pseudohypoparathyroidism Type 1C
Calcinosis, Prolonged QT interval, Cataract, Confusion, Obesity, Depression, Irritability, Hyperp... ORPHA:79444
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Fasciitis, Elevated circulating C-reactive protein concentration, Splenomegaly, Leu... ORPHA:32960
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiac arrest, Cardiomegaly, C... OMIM:617713
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cataract, Elevated circulating creatine kinase concentration, Cardiomegaly, Antenat... OMIM:608836
Grange Syndrome
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Ventricular septal defect ORPHA:79094
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti... ORPHA:2686
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
6Q16 Microdeletion Syndrome
Broad-based gait, Obesity ORPHA:171829
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
H Syndrome
Hypertriglyceridemia, Lipodystrophy, Microcytic anemia, Abnormal cardiovascular system physiology... ORPHA:168569
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... ORPHA:79126
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Right ventricular failure, Reduced circulating transferrin concentrat... ORPHA:90363
Trisomy 5P
Obesity ORPHA:1742
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Dry skin, Obesity ORPHA:3085
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Unst... ORPHA:329224
Yuan-Harel-Lupski Syndrome
Broad-based gait, Ventricular septal defect, Bicuspid aortic valve, Unsteady gait, Gait ataxia, D... OMIM:616652
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... ORPHA:79456
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Chylopericardium, ... ORPHA:2414
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Small for gestational age, Splenomegaly, M... OMIM:606003
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Cardiomegaly, Progressive ps... OMIM:268800
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... ORPHA:288
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... OMIM:618363
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Increased... ORPHA:90041
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Gait ataxia, Macroglossia, Abdominal obesity, Striae distensae OMIM:300354
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Amyloidosis, Familial Visceral
Splenomegaly, Hypertension, Cholestasis, Hepatomegaly OMIM:105200
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Abnormality of ... ORPHA:1304
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Decreased muscle mass, Unsteady gait, Dysmetria, Truncal obe... ORPHA:3041
Alternating Hemiplegia Of Childhood
Ataxia, Facial hypotonia, Cardiac conduction abnormality, Chorea, Choreoathetosis, Cardiomyopathy... ORPHA:2131
Farber Lipogranulomatosis
Hepatomegaly, Splenomegaly, Irritability, Lipogranulomatosis, Failure to thrive OMIM:228000
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Uveitis, Lymph... ORPHA:36412
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Congestive heart failure, Flexion contracture, Enlarged kidney, Anemi... OMIM:617303
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Portal hyperte... OMIM:615688
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... ORPHA:280365
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Tremor, Splenomegaly, Arrhy... ORPHA:99745
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Ventricular septal defect, Ataxia, Inability to walk, Flexion contracture ORPHA:79243
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... OMIM:613870
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Obesity OMIM:615630
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Obesity, Mitral regurgitation, Atrial septal def... ORPHA:254346
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, ... ORPHA:565612
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Disproportionate tall stature,... OMIM:615668
Muckle-Wells Syndrome
Hepatomegaly, Camptodactyly of finger, Splenomegaly, Vasculitis, Uveitis, Conjunctivitis, Hernia ... ORPHA:575
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Lipodystrophy, Tremor, Flexion contracture, Developmental ca... ORPHA:86309
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... OMIM:618901
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Decr... OMIM:617718
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, Cardiac arrest, Dilated cardiomyopathy, Weight loss, Pallor, Hypotension, Lethargy ORPHA:20
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ventricular septal defect, Ataxia, Limb joint contracture, Inability to walk, Decreased body weig... ORPHA:505237
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Ventricular septal defect OMIM:613730
Pseudohypoparathyroidism Type 1A
Calcinosis, Prolonged QT interval, Cataract, Confusion, Band keratopathy, Obesity, Depression, Ch... ORPHA:79443
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... ORPHA:79124
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Failure to th... OMIM:612714
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia, Broad-based gait OMIM:617450
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Lipoma, Obesity ORPHA:480907
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Acquired Methemoglobinemia
Tachycardia, Confusion, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M... OMIM:256040
Fadd-Related Immunodeficiency
Ventricular septal defect ORPHA:306550
Andersen Cardiodysrhythmic Periodic Paralysis
Prolonged QT interval, Bidirectional ventricular ectopy, Depression, Hypokalemia, Syncope, Palpit... OMIM:170390
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Failure to thrive, Inguinal hernia, Femoral hernia, Obesity, Conotruncal de... ORPHA:96147
Bardet-Biedl Syndrome 4
Obesity OMIM:615982
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Ventricular septal defect, Lipodystrophy, Truncal obesity, D... OMIM:270450
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Overgrowth, Ventricular septal defect, Hernia OMIM:602501
Cerebral Creatine Deficiency Syndrome 1
Prolonged QT interval, Elevated circulating creatine concentration, Attention deficit hyperactivi... OMIM:300352
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Dry skin, Ataxia, Obesity OMIM:620191
Ogden Syndrome
Torticollis, Inguinal hernia, Ventricular septal defect, Cutis laxa, Shuffling gait, Cardiogenic ... ORPHA:276432
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... OMIM:230800
48,Xxyy Syndrome
Inguinal hernia, Ataxia, Abnormal dental enamel morphology, Obesity, Tall stature ORPHA:10
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Tremor, Hyperkalemia, Sh... ORPHA:79102
Nephronophthisis 15
Obesity OMIM:614845
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hyperammonemia ORPHA:664
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular systolic dysfunction, Ataxia, Dilated cardiomyopathy, M... OMIM:619167
Orthostatic Hypotension 1
Hypomagnesemia, Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen OMIM:223360
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Conjunc... ORPHA:99826
Morm Syndrome
Truncal obesity ORPHA:75858
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Pericarditis, Hepatomegaly, Splenomegaly, Myocardi... ORPHA:809
Kcnq2-Related Epileptic Encephalopathy
Inability to walk, Pallor, Facial erythema ORPHA:439218
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub... OMIM:211600
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Ventricular septal defect, Inability to walk, Flexion contracture, Decreased body weight, Atrial ... OMIM:617452
Nephroblastoma
Weight loss, Lymphadenopathy, Neoplasm of the liver, Hypertension, Aniridia ORPHA:654
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he... OMIM:304790
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Obesity, Ge... ORPHA:98908
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... ORPHA:158048
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ... ORPHA:781
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Leukocytosis, Lymphadenopathy, Anemia, Leuk... ORPHA:520
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Umbilical hernia, Patent ductus arteriosus, Obesity ORPHA:171839
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophi... ORPHA:33226
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Pseudo-Torch Syndrome 1
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Opacification of the corneal stroma, Dystonia, Um... OMIM:251290
Mehmo Syndrome
Obesity ORPHA:85282
Dubowitz Syndrome
Short attention span, Inguinal hernia, Aplastic anemia, Acute lymphoblastic leukemia, Hypoplasia ... OMIM:223370
Carpenter Syndrome 1
Omphalocele, Ventricular septal defect, Patent ductus arteriosus, Obesity, Joint contracture of t... OMIM:201000
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten... OMIM:179613
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Hsd10 Disease, Infantile Type
Cardiomegaly, Hyperammonemia, Choreoathetosis, Dystonia, Hypertrophic cardiomyopathy ORPHA:391428
Wild Type Attr Amyloidosis
Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradyca... ORPHA:330001
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Hereditary Methemoglobinemia
Small for gestational age, Athetosis, Methemoglobinemia, Limb dystonia ORPHA:621
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Obesity, Hypotension ORPHA:369873
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation ORPHA:54
Sandhoff Disease, Infantile Form
Mitral regurgitation, Mitral valve prolapse, Exaggerated startle response, Hepatosplenomegaly ORPHA:309155
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil morphology, Lentiglobus, Hyponatremia, Abn... ORPHA:534
Stiff-Person Syndrome
Tachycardia, Exaggerated startle response, Opisthotonus, Depression, Hypertension, Anemia OMIM:184850
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:308552
16P13.11 Microduplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:261243
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Weill-Marchesani Syndrome
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis ORPHA:3449
Skraban-Deardorff Syndrome
Broad-based gait, Ventricular septal defect, Spastic gait OMIM:617616
Chung-Jansen Syndrome
Obesity OMIM:617991
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Short Stature-Micrognathia Syndrome
Ventricular septal defect, Ataxia, Gait ataxia, Skeletal muscle hypertrophy, Decreased body weigh... OMIM:617164
Intellectual Developmental Disorder, X-Linked 12
Small for gestational age, Increased body mass index, Gait disturbance, Truncal obesity OMIM:300957
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Retinitis Pigmentosa
Atypical scarring of skin, Obesity ORPHA:791
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Impaired pain sensation, Obesity, Camptodactyly, Failure to thrive ORPHA:412035
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Serotonin Syndrome
Tachycardia, Confusion, Tremor, Hypertension, Irritability, Hypotension, Mental deterioration, De... ORPHA:43116
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contracture, Tortuosity... OMIM:230000
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran... ORPHA:268
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Elevated circulating C-reactive protein concentration, Follicular hyperplasia,... OMIM:615934
Autoimmune Lymphoproliferative Syndrome
Uveitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative... ORPHA:3261
Rett Syndrome
Cachexia, Dystonia, Abnormal T-wave, Motor deterioration, Prolonged QTc interval OMIM:312750
Filippi Syndrome
Ventricular septal defect, Decreased body weight OMIM:272440
Revesz Syndrome
Aplastic anemia, Progressive neurologic deterioration, Leukocoria, Bone marrow hypocellularity, M... OMIM:268130
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:1166
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil... ORPHA:3260
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Weight loss, Lymphadenopathy, Hernia, Ascites ORPHA:26790
Adams-Oliver Syndrome 5
Inguinal hernia, Hypersplenism, Splenomegaly, Portal vein thrombosis, Umbilical hernia, Pulmonic ... OMIM:616028
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Idiopathic Intracranial Hypertension
Lethargy, Obesity ORPHA:238624
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Cardiomegaly OMIM:613576
Meacham Syndrome
Death in infancy, Diaphragmatic eventration, Bicuspid aortic valve, Ventricular septal defect, De... OMIM:608978
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Sca... ORPHA:59303
Boutonneuse Fever
Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Leukopenia, Thrombocytopenia ORPHA:83313
Immunodeficiency 61
Obesity OMIM:300310
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect, Supravalvular aortic stenosis OMIM:618624
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Ataxia, Abnormal heart morphology, Total anomalous pulmonary venous re... ORPHA:261183
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Splenomegaly, Cognitive impairment, Opacification of the corneal... ORPHA:583
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hyperbilirubinemia, Steatorrhea, ... OMIM:235555
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Confusion, Congestive heart failu... ORPHA:31826
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... ORPHA:70591
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Cor pulmonale, T lymphocytopenia, Lymph node hyp... OMIM:300755
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P... OMIM:263800
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Broad-based gait, Ventricular septal defect, Dextrocardia OMIM:618067
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating C-reactive protein con... ORPHA:90051
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Cardiac arrest, Myocarditis, Hepatitis, Lymphadenopathy, Weight loss, Lymphocytosis ORPHA:139402
White-Sutton Syndrome
Waddling gait, Facial hypotonia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Obesi... OMIM:616364
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Patent ductus arteriosus, Death in childhood, Umbilical hernia, Hypert... OMIM:612938
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Failure to thriv... OMIM:619418
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Beta-Ketothiolase Deficiency
Ataxia, Weight loss, Hypertension, Pallor, Hypotension ORPHA:134
Biemond Syndrome Type 2
Obesity ORPHA:141333
Ataxia-Oculomotor Apraxia 4
Impaired vibratory sensation, Ataxia, Obesity OMIM:616267
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Anemia, Leukopenia... ORPHA:77259
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Gait imbalance, Obesity ORPHA:411511
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Small for gestational age, Atrial septal defect, Failure to thrive, Pa... OMIM:614261
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Raynaud phenomenon, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic ... ORPHA:93552
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Ataxia, Overweight, Inability to walk, Obesity, Generalized limb muscle ... ORPHA:2822
Costello Syndrome
Ventricular septal defect, Failure to thrive in infancy, Redundant skin, Abnormal dental enamel m... ORPHA:3071
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Failure to thrive, Perimembranous ventricular septal defect,... OMIM:606812
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Hyphema, Abnormal corneal endot... ORPHA:209959
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated circulating creatine kinase concen... OMIM:614921
Clark-Baraitser Syndrome
Obesity OMIM:617752
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen ORPHA:94059
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... ORPHA:514
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Atelis Syndrome 1
Atrial septal defect, Dry skin, Ventricular septal defect OMIM:620184
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... OMIM:611881
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Obesity, Facial erythema, Hypertension, Abdominal obesity, Ecchymosis, S... OMIM:219090
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Hem... OMIM:613812
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Death in infancy, Ventricular septal defect, Arthrogryposis multiplex congenita, Failure to thriv... OMIM:613404
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Ataxia, Obesity, Tall stature OMIM:618430
Pituitary Apoplexy
Hyponatremia, Confusion, Hypertension, Normochromic anemia, Increased circulating cortisol level,... ORPHA:95613
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Hyphema, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anteri... OMIM:221900
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Vasculitis in the skin, Anemia, Hepatomegaly OMIM:620296
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Cerebral hemorrhage, Hepatosplenomegaly, Chorioretinitis, Panuveitis, Panniculi... OMIM:301081
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Atrial septal defect, Atrioventricular can... OMIM:619573
Leptin Deficiency Or Dysfunction
Obesity OMIM:614962
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Hepatomegaly, Bundle branch block, Inguinal hernia, Ventricular septal def... ORPHA:373
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Tremor, Splenomegaly, ... OMIM:615512
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi... OMIM:616589
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Hypocalcemia, ... OMIM:619991
Genitopalatocardiac Syndrome
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries OMIM:231060
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Ventricular septal defect, Small for gestational age, Atrial septal defect, Art... OMIM:208085
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Gm1 Gangliosidosis
Inguinal hernia, Ventricular septal defect, Ataxia, Camptodactyly of finger, Congestive heart fai... ORPHA:354
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Microcornea, Astigmatism, Hypocholesterolemia, Atrial septal defect, F... OMIM:244450
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Ataxia, Abnormal heart morphology, Macroglossia, Arthrogryposis-like h... ORPHA:369891
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Chorea, Gait ataxia, Arthrogryposis multiplex congenita, Patent forame... OMIM:614961
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Pelger-Huet Anomaly
Ventricular septal defect, Lower limb hypertonia, Umbilical hernia, Failure to thrive, Foot dorsi... OMIM:169400
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ... OMIM:608885
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Portal hyp... OMIM:251880
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Action tremor, ... ORPHA:309854
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Inguinal hernia, Ataxia, Dilated cardiomyopathy, Dysmetria, Truncal obesity, Dy... OMIM:616541
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Essential Thrombocythemia
Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal platelet morphology, Acu... ORPHA:3318
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Fasciitis, Elevated circulating creatine kinase concentration, Confusion, Abs... ORPHA:36234
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Ventricular septal defect, Patent ductus arteriosus, Dry skin, Atrial septal de... OMIM:614576
Lead Poisoning
Decreased HDL cholesterol concentration, Small for gestational age, Imbalanced hemoglobin synthes... ORPHA:330015
Carcinoid Syndrome
Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular failure, Heart ... ORPHA:100093
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Pallor, Positive regiti... ORPHA:276621
Nephronophthisis 11
Anisocoria, Hepatic fibrosis, Anemia OMIM:613550
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Angelman Syndrome
Broad-based gait, Ataxia, Obesity, Macroglossia, Progressive gait ataxia OMIM:105830
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Mitral regurgitatio... OMIM:603387
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Cataract, Ventricular septal defect, Splenomegaly, Hypertension, Cholestatic liver ... OMIM:270400
Wilson-Turner Syndrome
Truncal obesity ORPHA:3459
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfec... ORPHA:100075
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfec... ORPHA:100080
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Tremor, Hand tremor,... OMIM:277900
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... OMIM:613854
Prune Belly Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Aplasia of the abdomina... ORPHA:2970
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ... OMIM:615745
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Sp... OMIM:607015
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Cardiomegaly ORPHA:3137
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Overgrowth, Atrial sept... OMIM:615879
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Bdv Syndrome
Atrial septal defect, Obesity OMIM:619326
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Failure to thrive, Pallor ORPHA:90045
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Uveitis, Pulmonary arterial hypertension OMIM:612387
Aase-Smith Syndrome I
Death in infancy, Flexion contracture, Ventricular septal defect OMIM:147800
Duane Retraction Syndrome
Central heterochromia, Abnormal pupil morphology, Blepharospasm, Microcornea, Hypoplastic iris st... ORPHA:233
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Tremor, Splenomegaly, Irritability, Decreased serum zinc, Emotional lability, Failu... OMIM:201100
Scimitar Syndrome
Heart block, Hypoplasia of the diaphragm, Hernia, Atrial septal defect, Single ventricle, Patent ... ORPHA:185
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenop... ORPHA:91138
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Leukocytosis, Acute leukemia, Lymphadenop... ORPHA:99812
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Contractural Arachnodactyly, Congenital
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... OMIM:121050
Carpenter Syndrome
Umbilical hernia, Patent ductus arteriosus, Obesity ORPHA:65759
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Uveal Melanoma
Iris melanoma, Inferior lens subluxation, Vitreous hemorrhage, Zonular cataract, Ciliary body mel... ORPHA:39044
De Barsy Syndrome
Decreased muscle mass, Inguinal hernia, Ventricular septal defect, Lipodystrophy, Patent ductus a... ORPHA:2962
Right Atrial Isomerism
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Situs inversus ... OMIM:208530
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfec... ORPHA:97287
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Jaundice, Chron... ORPHA:90033
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Pericardial effusion, ... OMIM:615846
Infant Botulism
Hyponatremia, Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydriasis ORPHA:178478
Prader-Willi Syndrome Due To Imprinting Mutation
Obesity ORPHA:177910
Man1B1-Cdg
Truncal obesity, Broad-based gait, Cutis laxa ORPHA:397941
Primary Familial Polycythemia
Epistaxis, Polycythemia, Abnormal hemoglobin ORPHA:90042
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... ORPHA:37042
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis OMIM:178650
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Extrahepatic cholestasis, Lymp... ORPHA:100078
Temple Syndrome
Small for gestational age, Obesity ORPHA:254516
Poems Syndrome
Lipodystrophy, Pericardial effusion, Lymphadenopathy, Weight loss, Pulmonary arterial hypertensio... ORPHA:2905
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Obesity OMIM:600151
Desbuquois Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... ORPHA:1425
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... ORPHA:263479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Congenital contracture... OMIM:613150
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Pancreatic cysts, Abnormality... ORPHA:464329
Adiposis Dolorosa
Dry skin, Telangiectasia of the skin, Obesity, Paresthesia ORPHA:36397
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Farber Disease
Failure to thrive, Intrahepatic cholestasis with episodic jaundice, Corneal opacity, Flexion cont... ORPHA:333
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, ... ORPHA:845
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Elbow flexion contracture, ... OMIM:618440
Gm1-Gangliosidosis, Type I
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Splenomegaly, Congestive heart fa... OMIM:230500
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Weig... ORPHA:29073
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Spider hemangioma, Splen... ORPHA:2137
Norrie Disease
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... OMIM:310600
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity, Lower limb hypertonia, Tip-toe gait, Spastic gait, Limb hypertonia OMIM:617296
3Q29 Microduplication Syndrome
Camptodactyly of toe, Ventricular septal defect, Obesity ORPHA:251038
Bardet-Biedl Syndrome 1
Ataxia, Obesity, Hypertension, Truncal obesity, Abdominal obesity, Gait imbalance, Left ventricul... OMIM:209900
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactiv... OMIM:612852
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation OMIM:618042
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Obesity OMIM:300238
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Decreased circulating... OMIM:300972
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Obesity, Tall stature OMIM:618089
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Fucosidosis
Hepatomegaly, Corneal opacity, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Failure... ORPHA:349
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... OMIM:613027
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Small for gestational ag... OMIM:260400
Shox-Related Short Stature
Skeletal muscle hypertrophy, Obesity ORPHA:314795
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia, Obesity OMIM:615994
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Pearson Syndrome
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... ORPHA:699
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:500159
Hurler Syndrome
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Corneal opacity, Progressive neurologic dete... OMIM:607014
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Vascul... ORPHA:1572
Niemann-Pick Disease, Type C1
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Prolonged neonatal jaundice, D... OMIM:257220
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple... OMIM:222700
Congenital Disorder Of Glycosylation, Type Iic
Cellulitis, Neutrophilia, Reduction of neutrophil motility OMIM:266265
Majeed Syndrome
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Flexion contra... ORPHA:77297
Plague
Hepatomegaly, Tachycardia, Mydriasis, Hematemesis, Splenomegaly, Lymphadenitis, Endocarditis, Enl... ORPHA:707
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
African Trypanosomiasis
Tremor, Choreoathetosis, Conjunctivitis, Iritis, Delirium, Hepatomegaly, Abnormal EKG, Hepatosple... ORPHA:3385
Mucopolysaccharidosis Type 3
Hepatomegaly, Inguinal hernia, Cataract, Corneal opacity, Progressive neurologic deterioration, C... ORPHA:581
Suleiman-El-Hattab Syndrome
Inguinal hernia, Ventricular septal defect, Atrial septal defect, Failure to thrive, Patent foram... OMIM:618950
14Q11.2 Microduplication Syndrome
Obesity ORPHA:261229
Microtriplication 11Q24.1
Obesity ORPHA:289522
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Perrault Syndrome 4
Disproportionate tall stature, Obesity, Gait ataxia OMIM:615300
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfec... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfec... ORPHA:100082
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Splenomegaly, Asymmetric septal hypertrophy, Umbilical hernia OMIM:252900
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Hernia, Motor deterioration OMIM:252930
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Ocular albinism, Neutropenia, Dystonia OMIM:617050
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Flexion contracture, Attention deficit hyperactivity disorder, Camptodacty... OMIM:620029
Emanuel Syndrome
Torticollis, Inguinal hernia, Ventricular septal defect, Truncus arteriosus, Congenital diaphragm... OMIM:609029
Cantu Syndrome
Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Congenital ... OMIM:239850
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... ORPHA:79240
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... OMIM:220210
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Cataract, Confusion, Myocardial ... ORPHA:117
Leptospirosis
Hepatomegaly, Pericarditis, First degree atrioventricular block, Conjunctival hyperemia, Jaundice... ORPHA:509
Ulnar-Mammary Syndrome
Ventricular septal defect, Camptodactyly of finger, Aplasia of the pectoralis major muscle, Obesi... ORPHA:3138
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Cardiom... OMIM:252500
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Chromosome 18Q Deletion Syndrome
Broad-based gait, Inguinal hernia, Absence of the pulmonary valve, Ventricular septal defect, Fai... OMIM:601808
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Death in childhood OMIM:246450
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Ventricular septal defect ORPHA:93267
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Atrial flutter, Overriding aorta, Ventricular septal defect, Patent ductus arteriosu... OMIM:601927
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart OMIM:618142
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Obesity OMIM:612463
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
Intellectual Developmental Disorder, Autosomal Dominant 47
Small for gestational age, Ventricular septal defect OMIM:617635
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... ORPHA:555874
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Obesity, Macroglossia, Hernia, Arrhythmia, Tetr... ORPHA:261494
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Ataxia, Ventricular septal defect, Patent ductus arteriosus, Knee flexio... ORPHA:435638
Poikiloderma With Neutropenia
Elevated circulating creatine kinase concentration, Splenomegaly, Telangiectasia, Leukopenia, Con... OMIM:604173
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Flexion contracture of toe, Obesity ORPHA:3409
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Cataract, Elevated circulating creatine kinase concentration, Dilat... OMIM:253800
Smith-Magenis Syndrome
Gait disturbance, Obesity, Failure to thrive in infancy, Impaired pain sensation ORPHA:819
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Wagr Syndrome
Obesity ORPHA:893
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Failure to thrive, Absent peripheral lymph nodes in presence of infection... ORPHA:98813
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology ORPHA:401935
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Ataxia, Gait imbalance, Obesity ORPHA:98794
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect OMIM:601355
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Xanthe... OMIM:232220
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Aicardi-Goutières Syndrome
Multiple joint contractures, Lipoatrophy, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Ray... ORPHA:51
Staphylococcal Necrotizing Pneumonia
Shock, Neutrophilia, Confusion, Elevated circulating C-reactive protein concentration, Leukocytos... ORPHA:36238
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity OMIM:615633
Monosomy 13Q34
Epistaxis, Obesity, Hematochezia, Pulmonic stenosis, Common atrium ORPHA:96168
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Clark-Baraitser syndrome
Obesity, Tall stature OMIM:300602
Amyloidosis, Hereditary, Transthyretin-Related
Confusion, Cardiomegaly, Tremor, Cardiomyopathy, Dementia, Orthostatic hypotension due to autonom... OMIM:105210
Lethal Congenital Contracture Syndrome 10
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia o... OMIM:617022
Double Outlet Right Ventricle
Tachycardia, Failure to thrive, Ventricular septal defect, Double outlet right ventricle, Heart m... ORPHA:3426
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Failure to thrive, Thrombocytopenia OMIM:259700
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus, Atrial ... OMIM:618316
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep... OMIM:618641
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Inability to walk, Unsteady gait, Ataxia, Obesity OMIM:618443
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Ataxia, Unstea... ORPHA:457279
Oculoauriculofrontonasal Syndrome
Pericallosal lipoma, Ventricular septal defect ORPHA:398156
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Failure to thrive, Ventricular septal defect, Small for gesta... OMIM:222470
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Atkin-Flaitz Syndrome
Obesity ORPHA:1193
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesity OMIM:618493
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity ORPHA:254531
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Dystonia, Atrial septal defect, Left ventricular ... ORPHA:79330
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Bicuspid aortic valve, Ventricular septal de... ORPHA:84064
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Flexion contracture, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Weight loss, En... ORPHA:85408
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Inability to walk, Abnormal heart morphology, Atrial septal defect, Pa... OMIM:618494
Trichinellosis
Confusion, Retinal hemorrhage, Anisocoria, Irritability, Conjunctivitis, Abnormal uvea morphology... ORPHA:863
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegal... OMIM:614866
Esophageal Atresia
Omphalocele, Small for gestational age, Ventricular septal defect, Failure to thrive in infancy, ... ORPHA:1199
Down Syndrome
Impaired pain sensation, Obesity, Macroglossia, Gait disturbance, Umbilical hernia ORPHA:870
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Burn-Mckeown Syndrome
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Hypomimic face OMIM:608572
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Broad-based gait, Ventricular septal defect, Ataxia, Choreoathetosis, Difficulty walking, Atrial ... OMIM:610978
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Cutaneous Mastocytoma
Telangiectasia of the skin, Lymphadenopathy, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Leukopenia, Hemolytic anem... ORPHA:797
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, We... ORPHA:71493
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... ORPHA:3243
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Ne... ORPHA:171
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertens... ORPHA:139411
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Hiatus hernia, Panc... OMIM:610199
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss ORPHA:33276
7Q11.23 Microduplication Syndrome
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteri... ORPHA:96121
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Contractures of the large joints, Ventricular septal defect ORPHA:3078
Autosomal Dominant Coarctation Of Aorta
Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect ORPHA:1455
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Truncal obesity, Small for gestational age, Obesity ORPHA:96184
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Conjunctivitis, Neutropenia ORPHA:293173
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Ventricular septal defect, Cardiomegaly, Flexion contracture, Hypertro... OMIM:616897
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Chops Syndrome
Ventricular septal defect, Patent ductus arteriosus, Obesity, Anomalous pulmonary venous return, ... OMIM:616368
Serkal Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Angina pectoris, Abnormality of the tonsils, Corne... ORPHA:93473
Fanconi Anemia, Complementation Group C
Small for gestational age, Flexion contracture, Ventricular septal defect, Anemic pallor OMIM:227645
Imerslund-Gräsbeck Syndrome
Tachycardia, Failure to thrive, Pallor, Weight loss ORPHA:35858
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosu... OMIM:608149
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Pallor, Positive regiti... ORPHA:29072
Intellectual Developmental Disorder, Autosomal Dominant 48
Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve OMIM:617751
Emanuel Syndrome
Inguinal hernia, Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Cong... ORPHA:96170
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malformation of the hepati... OMIM:208540
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Bardet-Biedl Syndrome 9
Truncal obesity, Obesity OMIM:615986
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mi... OMIM:620233
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Obesity ORPHA:2234
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Vasculitis, Congestive ... ORPHA:2331
Hereditary Renal Hypouricemia
Hypouricemia, Increased blood urea nitrogen ORPHA:94088
Kapur-Toriello Syndrome
Failure to thrive, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Patent ... ORPHA:3427
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Limb hypertonia OMIM:619909
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Sple... ORPHA:567983
Congenital Analbuminemia
Small for gestational age, Lipodystrophy, Miscarriage, Obesity, Low pulse pressure ORPHA:86816
Xp22.13P22.2 Duplication Syndrome
Truncal obesity, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:284180
3C Syndrome
Death in infancy, Inguinal hernia, Ventricular septal defect, Abnormal mitral valve morphology, A... ORPHA:7
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Joubert Syndrome 18
Ventricular septal defect, Camptodactyly OMIM:614815
Myhre Syndrome
Ventricular septal defect, Ataxia, Small for gestational age, Pericardial effusion, Patent ductus... OMIM:139210
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Weight loss, Lymphadenopathy ORPHA:411703
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo... OMIM:269700
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Small for gestational age, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Brain-Lung-Thyroid Syndrome
Ventricular septal defect, Ataxia, Chorea, Choreoathetosis, Abnormal cardiac septum morphology, F... ORPHA:209905
Scheie Syndrome
Aortic regurgitation, Splenomegaly, Corneal opacity, Hepatomegaly ORPHA:93474
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity ORPHA:85293
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, Failure to thrive, HbH hemoglobin, Microcytic anemia ORPHA:98791
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... OMIM:618775
Macrocephaly/Autism Syndrome
Overgrowth, Obesity, Cutis laxa, Large for gestational age OMIM:605309
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Gastrointestinal hemorrhage, Failure to thrive, Elevated circulat... OMIM:276700
Metaphyseal Chondrodysplasia, Schmid Type
Waddling gait, Obesity ORPHA:174
Scalp-Ear-Nipple Syndrome
Cataract, Cardiac myxoma, Congestive heart failure, Developmental cataract, Anisocoria, Hypertens... OMIM:181270
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect ORPHA:2345
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Patent ductus arteriosus, Ventricular septal defect, Sinus bradycardia OMIM:126320
Microphthalmia, Syndromic 9
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteri... OMIM:601186
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Niemann-Pick Disease, Type C2
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Prolonged neonatal j... OMIM:607625
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Diabetic Embryopathy
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Transposition of... ORPHA:1926
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Failure to thrive, Cataract, Persistent pupillary membrane OMIM:257850
8P11.2 Deletion Syndrome
Hemolytic anemia, Splenomegaly, Spherocytosis, Mitral valve prolapse, Microcornea, Atrial septal ... ORPHA:251066
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy OMIM:260920
Cornelia De Lange Syndrome 5
Truncal obesity OMIM:300882
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Brachydactyly, Type B1
Joint contracture of the hand, Ventricular septal defect, Camptodactyly OMIM:113000
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormal pulmonary valve morphology, Tremor, Splenomegaly, Lymphadenopathy, Hypocal... ORPHA:667
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Pallor ORPHA:90036
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Small for gestational age OMIM:300869
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... ORPHA:980
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect OMIM:620210
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... ORPHA:77261
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... ORPHA:99125
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Gaucher Disease
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal... ORPHA:355
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension, Abdominal obesity, Truncal obesity, Coronary artery stenosis OMIM:615812
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Obesity ORPHA:464288
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Fasciitis, Autoimmune thrombocytopenia, Raynaud phe... ORPHA:331235
19Q13.11 Microdeletion Syndrome
Dry skin, Failure to thrive, Ventricular septal defect, Cachexia ORPHA:217346
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal circulating phytanic acid concentration, Mydriasis ORPHA:247815
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hernia ORPHA:3306
Cooper-Jabs Syndrome
Umbilical hernia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:1488
Meige Disease
Atypical scarring of skin, Lymph node hypoplasia, Cellulitis, Absence of lymph node germinal center ORPHA:90186
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit... ORPHA:131
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Failure to thrive, Anemia OMIM:239200
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Cohen Syndrome
Small for gestational age, Facial hypotonia, Childhood-onset truncal obesity, Mitral valve prolapse OMIM:216550
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Joubert Syndrome 8
Ataxia, Obesity OMIM:612291
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Cardiomegaly, Abnormal thymus morphology, Loss of truncal subcutaneous adipose... ORPHA:2463
Verheij Syndrome
Small for gestational age, Truncus arteriosus, Ventricular septal defect OMIM:615583
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Ventricular septal defect ORPHA:2516
Malt Lymphoma
Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Posterior uveitis, Anemia ORPHA:52417
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Obesity, Heart murmur, Anisocoria, Patent foramen ovale OMIM:618653
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy... OMIM:616084
Woods Syndrome
Ventricular septal defect OMIM:615236
Kleefstra Syndrome 1
Macroglossia, Obesity, Conotruncal defect OMIM:610253
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal dental enamel morphology, Obesity ORPHA:2180
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Card... ORPHA:365
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Ocular albin... OMIM:608233
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Ventricular septal defect, Small for gestational age, Abnormal left ventricu... OMIM:301056
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Beck-Fahrner Syndrome
Depression, Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly OMIM:618798
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Decreased muscle mass, Scapular winging, Ventricular septal ... OMIM:615582
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:1302
Charcot-Marie-Tooth Disease Type 1E
Anisocoria, Abnormal pupil morphology, Joint contracture of the hand ORPHA:90658
Pierson Syndrome
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Retinal hemorrhage, Hy... OMIM:609049
Sheehan Syndrome
Orthostatic hypotension, Obesity, Palpitations, Bradycardia, Pallor, Dry skin ORPHA:91355
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Depression, Cardiomyopathy, Increased hepatic glycogen co... OMIM:619259
Desbuquois Dysplasia 1
Waddling gait, Obesity OMIM:251450
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria, Decreased circulating cortisol level, Orthostatic hypotension OMIM:231550
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, A... OMIM:618870
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Acth-Independent Macronodular Adrenal Hyperplasia
Hypertension, Striae distensae, Truncal obesity, Skeletal muscle atrophy OMIM:219080
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Erythema, Pallor, Death in childhood, Lethargy, Failure to thrive OMIM:557000
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Flexion contracture, Increased body weight, Abdominal obesity, At... ORPHA:398069
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Abnormal odontoid tissue morpho... ORPHA:79255
Retinoblastoma
Hypopyon, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocoria, Uveitis, Vitreous hemorr... ORPHA:790
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Broad-based gait, Obesity, Mitral valve prolapse, Macroglossia, F... ORPHA:369950
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... ORPHA:83471
Fanconi Anemia, Complementation Group E
Small for gestational age, Anemic pallor, Abnormal heart morphology OMIM:600901
Wound Botulism
Cardiac arrest, Mydriasis ORPHA:178475
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... OMIM:300855
Cohen Syndrome
Ventricular septal defect, Obesity, Failure to thrive in infancy, Mitral valve prolapse ORPHA:193
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Cataract, Limb joint contracture, Tremor, Atrial septal defect, Pat... OMIM:620327
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Prolonged ne... ORPHA:423479
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal heart valve... ORPHA:77293
Braddock-Carey Syndrome 1
Enamel hypoplasia, Aortic valve prolapse, Ventricular septal defect, Camptodactyly OMIM:619980
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Small for gestational age, Patent ductus arteriosus, Coronary artery f... OMIM:620024
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Inguinal hernia, Bicuspid aortic valve, Transient ischemic attack, Subarach... ORPHA:91387
Noonan Syndrome 4
Ventricular septal defect, Large for gestational age, Pulmonic stenosis, Atrial septal defect, Hy... OMIM:610733
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia, Obesity, Abno... ORPHA:468678
Seckel Syndrome 9
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Small for gesta... OMIM:616777
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Death in infancy, Ventricular septal defect, Death in childhood OMIM:616901
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... ORPHA:217093
Cardiac Valvular Dysplasia 1
Inguinal hernia, Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tri... OMIM:212093
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis, Conjunc... OMIM:142680
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Ventricular septal defect OMIM:601357
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Inguinal hernia, Cong... OMIM:600001
Coccidioidomycosis
Pericarditis, Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Vasc... ORPHA:228123
Superficial Siderosis
Subarachnoid hemorrhage, Anisocoria, Dementia, Cognitive impairment, Memory impairment, Internal ... ORPHA:247245
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectas... ORPHA:1655
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypert... ORPHA:231625
Blau Syndrome
Pericarditis, Cataract, Camptodactyly of finger, Keratitis, Splenomegaly, Iridocyclitis, Large ve... ORPHA:90340
Morgagni-Stewart-Morel Syndrome
Hypertension, Obesity ORPHA:77296
X-Linked Intellectual Disability, Shashi Type
Obesity ORPHA:85286
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Inguinal hernia, Abnormal atrioventricular valve physiolog... ORPHA:576
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Truncal obesity, Patent ductus arteriosus, Dry skin ORPHA:2637
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissue, Abnormal ... ORPHA:79277
Fanconi Anemia, Complementation Group A
Small for gestational age, Anemic pallor, Abnormal heart morphology OMIM:227650
Phelan-Mcdermid Syndrome
Broad-based gait, Ventricular septal defect, Impaired pain sensation, Patent ductus arteriosus, U... OMIM:606232
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, P... ORPHA:2519
Mucopolysaccharidosis Type 2, Severe Form
Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Corneal op... ORPHA:217085
Acrodysostosis 2 With Or Without Hormone Resistance
Obesity OMIM:614613
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Epistaxis, Abnormal number of alpha granules OMIM:139090
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Ventricular septal defect OMIM:218350
Bardet-Biedl Syndrome
Hypertension, Obesity, Skeletal muscle atrophy ORPHA:110
Cutis Marmorata Telangiectatica Congenita
Hypertension, Leukocoria, Telangiectasia OMIM:219250
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Peritonitis, Vasculitis, Lymphadenopathy ORPHA:343
Irida Syndrome
Pallor ORPHA:209981
17Q24.2 Microdeletion Syndrome
Prolonged QT interval, Failure to thrive in infancy, Truncal obesity, Pulmonic stenosis, Emotiona... ORPHA:529962
C Syndrome
Omphalocele, Ventricular septal defect, Patent ductus arteriosus, Cutis laxa, Failure to thrive OMIM:211750
Mucopolysaccharidosis Type 2
Hepatomegaly, Short attention span, Inguinal hernia, Abnormal heart valve morphology, Abnormal pu... ORPHA:580
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thromb... OMIM:153670
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration,... ORPHA:116
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Nodular Non-Suppurative Panniculitis
Splenomegaly, Weight loss, Panniculitis, Hepatomegaly ORPHA:33577
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Obesity, Aortic regurgitation OMIM:620072
Neurodegeneration And Seizures Due To Copper Transport Defect
Tricuspid regurgitation, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal... OMIM:620306
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Gait imbalance, Atrial septal defect, Tetral... OMIM:617159
Botulism
Arrhythmia, Mydriasis ORPHA:1267
Joubert Syndrome 37
Obesity OMIM:619185
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Corneal scarring, Atypical scarring of sk... OMIM:263700
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Xq21 Microdeletion Syndrome
Ataxia, Obesity, Gait ataxia, Upper limb muscle weakness, Hypertension, Dysdiadochokinesis, Abnor... ORPHA:1435
Sotos Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Increase... OMIM:117550
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Pallor ORPHA:331206
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Failure to thrive, Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Pate... ORPHA:99050
Acquired Hypertrichosis Lanuginosa
Weight loss, Lymphadenopathy ORPHA:2221
Degcags Syndrome
Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Small for gestational age, Hia... OMIM:619488
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Pain insensitivity, Ventricular septal defect, Patent ductus arteriosus, Atrial... OMIM:617061
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Obesity, Hypotension ORPHA:439822
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancreatic islet cell adenoma, Neoplasm of ... ORPHA:97289
Peroxisome Biogenesis Disorder 1A (Zellweger)
Redundant neck skin, Ventricular septal defect, Patent ductus arteriosus, Unsteady gait, Macroglo... OMIM:214100
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly ORPHA:229
Foodborne Botulism
Arrhythmia, Mydriasis ORPHA:228371
Angelman Syndrome
Inability to walk, Broad-based gait, Ataxia, Obesity ORPHA:72
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Umbili... OMIM:612582
Silver-Russell Syndrome
Decreased muscle mass, Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1930
15Q14 Microdeletion Syndrome
Atrial septal defect, Inguinal hernia, Ventricular septal defect ORPHA:261190
Lambotte Syndrome
Ventricular septal defect OMIM:245552
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo... OMIM:608594
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Congenital Fibrosis Of Extraocular Muscles
Anisocoria, Torticollis, Abnormal pupil shape, Cataract ORPHA:45358
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... OMIM:619381
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Obesity OMIM:610628
48,Xxxy Syndrome
Inguinal hernia, Abnormal dental enamel morphology, Pulmonary embolism, Obesity, Tall stature ORPHA:96263
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Obesity ORPHA:363741
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Obesity OMIM:601794
Chromosome 14Q11-Q22 Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Inability to walk, Patent ductus arteriosus, Macroglo... OMIM:613457
Isolated Biliary Atresia
Hepatomegaly, Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Atretic gal... ORPHA:30391
Sim1-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Obesity, Abdominal obesity, Lethargy, Failure to thrive ORPHA:398079
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... ORPHA:99228
Monosomy X
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Bicuspid aortic valve, Failure to thrive in infancy, Myocardial infarction... ORPHA:881
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract OMIM:619649
Trisomy 13
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Hernia ORPHA:3378
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Obesity ORPHA:163681
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Ventricular septal defect, Ataxia OMIM:614424
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... ORPHA:1333
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Reynolds Syndrome
Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Jaundice... OMIM:613471
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Mitr... OMIM:616564
Non-Functioning Pituitary Adenoma
Increased intraabdominal fat, Pallor, Hypotension ORPHA:91349
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Truncal obesity, Skeletal muscle atrophy ORPHA:127
Leptin Receptor Deficiency
Obesity OMIM:614963
Spondylo-Ocular Syndrome
Facial hypotonia, Ventricular septal defect ORPHA:85194
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect OMIM:617516
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte... ORPHA:91347
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Myelofibrosis
Pallor, Purpura OMIM:254450
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... OMIM:208000
Arachnoid Cyst
Subarachnoid hemorrhage, Depression, Social and occupational deterioration, Irritability, Memory ... ORPHA:2356
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Small for gestational... ORPHA:2255
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis OMIM:616559
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Small for gestational age, Patent ductus arteri... OMIM:610443
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Hypertrophi... OMIM:605275
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Ataxia, Congesti... ORPHA:506
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Mediastinal lymphad... ORPHA:199241
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve... OMIM:600987
2Q37 Microdeletion Syndrome
Umbilical hernia, Obesity, Congenital diaphragmatic hernia ORPHA:1001
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration OMIM:614204
Familial Mediterranean Fever
Pericarditis, Myocardial infarction, Splenomegaly, Peritonitis, Vasculitis, Lymphadenopathy, Arrh... ORPHA:342
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... ORPHA:3097
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular... OMIM:300998
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Raynaud phenomenon, Vasculitis, Biliary cirrhosis, L... ORPHA:289390
Distal Deletion 12Q
Failure to thrive in infancy, Impaired pain sensation, Patent ductus arteriosus, Elbow flexion co... ORPHA:96149
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Truncal obesity, Failure to thrive, Small for gestational age ORPHA:73272
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss ORPHA:99978
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ventricular septal defect, Flexion contracture, Disproportionate tall stature, Atrial septal defe... OMIM:309520
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Increased body weight, Proximal amyotrophy, Hypertension, Abdominal obesit... ORPHA:189427
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Redundant skin, Congestive hear... OMIM:123700
Transketolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... ORPHA:488618
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Pallor ORPHA:348
Miller Fisher Syndrome
Anisocoria, Mydriasis ORPHA:98919
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Orotic Aciduria
Atrial septal defect, Failure to thrive, Ventricular septal defect OMIM:258900
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Intestinal bleeding, Lymphadenopathy ORPHA:424019
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Obesity OMIM:619680
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Iatrogenic Botulism
Orthostatic hypotension, Mydriasis ORPHA:254509
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral val... ORPHA:371428
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Hennekam Syndrome
Camptodactyly of finger, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Lymphade... ORPHA:2136
Trisomy 1Q
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:261344
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Lipoma, Subvalvular aortic stenosis, Atrial septal defect, Multiple ce... OMIM:613001
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Patent ductus arteriosus, Obesity, Abnormal heart morphology, Atrial septal defect, Restrictive c... ORPHA:369837
Gaucher Disease, Type Ii
Hepatomegaly, Progressive neurologic deterioration, Splenomegaly, Anemia, Failure to thrive, Thro... OMIM:230900
Momo Syndrome
Overgrowth, Obesity, Tall stature, Large for gestational age ORPHA:2563
22Q11.2 Duplication Syndrome
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... ORPHA:1727
Senior-Loken Syndrome 9
Obesity OMIM:616629
Laron Syndrome
Truncal obesity ORPHA:633
Coats Disease
Leukocoria, Retinal telangiectasia OMIM:300216
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ataxia, Cardiomegaly, S... OMIM:300967
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Telangiectasia of the skin, Ventricular septal defect, Congenital d... ORPHA:2092
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Retinitis Pigmentosa 75
Pallor OMIM:617023
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Atrial se... OMIM:617478
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Hepatic cysts, Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Hy... OMIM:263200
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,... ORPHA:677
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly, Atrial septal defect, ... OMIM:617602
Alstrom Syndrome
Hypertension, Dilated cardiomyopathy, Truncal obesity, Congestive heart failure OMIM:203800
Facial Spasm
Anisocoria OMIM:134300
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:220500
Rabin-Pappas Syndrome
Overgrowth, Obesity, Failure to thrive in infancy, Retinal telangiectasia OMIM:620155
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Choreoacanthocytosis
Bradyphrenia, Hepatomegaly, Resting tremor, Short attention span, Elevated circulating creatine k... ORPHA:2388
Cutis Marmorata Telangiectatica Congenita
Ascites, Telangiectasia of the skin, Leukocoria, Cognitive impairment ORPHA:1556
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Norrie Disease
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... ORPHA:649
Charcot-Marie-Tooth Disease Type 4C
Anisocoria, Failure to thrive, Head tremor ORPHA:99949
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Small for gestational age, Anemic pallor, Abnormal heart morphology OMIM:227646
Kallmann Syndrome
Ataxia, Obesity, Gait disturbance ORPHA:478
Bohring-Opitz Syndrome
Ventricular septal defect, Flexion contracture, Cutis laxa, Camptodactyly, Atrial septal defect, ... OMIM:605039
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Obesity, Myocardial infarction OMIM:618620
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Tay-Sachs Disease
Pallor OMIM:272800
Goodpasture Syndrome
Weight loss, Pulmonary hemorrhage, Anemia, Increased blood urea nitrogen OMIM:233450
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Developmental glaucoma, Obesity ORPHA:1772
Codas Syndrome
Ventricular septal defect, Abnormal dental enamel morphology ORPHA:1458
Kapur-Toriello Syndrome
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... OMIM:244300
Yellow Fever
Shock, Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Supr... ORPHA:99829
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial anomalous pulmonary ve... OMIM:619657
Hamamy Syndrome
Inguinal hernia, Prolonged QRS complex, Microcytic anemia, Complete atrioventricular canal defect... OMIM:611174
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Ataxia, Limb joint contracture, Flexion contracture, Truncal obesity, Lo... OMIM:301072
Cushing Syndrome Due To Ectopic Acth Secretion
Myocardial infarction, Pancreatoblastoma, Neoplasm of the thymus, Increased body weight, Pancreat... ORPHA:99889
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Luscan-Lumish Syndrome
Overgrowth, Obesity OMIM:616831
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Orthostatic hypotension OMIM:615510
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... OMIM:617205
Chromosome 9P Deletion Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Heart murmur, ... OMIM:158170
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... OMIM:619702
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hypertension, Abdominal obesity, Increased body weight OMIM:615954
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Raynaud phenomenon, Lymphadenopathy, T lymphocytopenia, Neutropenia,... OMIM:607944
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Truncal obesity, Striae distensae OMIM:610475
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Septo-Optic Dysplasia Spectrum
Dry skin, Obesity ORPHA:3157
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia OMIM:617827
Congenital Tracheomalacia
Failure to thrive, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial ano... ORPHA:95430
Williams Syndrome
Bicuspid aortic valve, Redundant skin, Myocardial infarction, Cardiomegaly, Dysmetria, Atrial sep... ORPHA:904
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Failure to thrive, Inguinal hernia, Ventricular septal defect, Abnor... ORPHA:567
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Erythema, Retinal hemorrhage, Cornea... OMIM:614653
Intellectual Developmental Disorder, Autosomal Dominant 53
Overgrowth, Unsteady gait, Ventricular septal defect OMIM:617798
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Camptodactyly, Atri... OMIM:300963
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:75389
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Redundant skin, Patent ductus arteriosus, Atr... ORPHA:96167
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Broad-based gait, Torticollis, Ventricular septal defect, Bicuspid aortic v... OMIM:619475
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Ventricular septal defect OMIM:617895
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... ORPHA:158687
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Proximal amyotrophy, Disproportionate tall stature, Palpitat... ORPHA:653
Acrocardiofacial Syndrome
Death in infancy, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Atrial sep... ORPHA:2008
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Obesity Due To Congenital Leptin Deficiency
Obesity, Orthostatic hypotension due to autonomic dysfunction ORPHA:66628
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Developmen... OMIM:245600
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Inguinal hernia, Ventricular septal defect, Large for gestational age, Dry skin... OMIM:280000
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Obesity OMIM:612462
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi... OMIM:181000
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Hypertension, Hypokalemia, Hypocalcemia OMIM:617913
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Failure to thrive, Joint contracture OMIM:616881
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Redundant neck skin, Ventricular septal defect, Camptodactyly OMIM:617360
Obesity Due To Leptin Receptor Gene Deficiency
Obesity, Orthostatic hypotension due to autonomic dysfunction ORPHA:179494
Zellweger Syndrome
Death in infancy, Failure to thrive, Ventricular septal defect ORPHA:912
Congenital Disorder Of Glycosylation, Type Iia
Failure to thrive, Unsteady gait, Ventricular septal defect OMIM:212066
Prader-Willi Syndrome
Decreased muscle mass, Failure to thrive in infancy, Impaired pain sensation, Obesity, Abdominal ... OMIM:176270
Anaplastic Thyroid Carcinoma
Weight loss, Lymphadenopathy ORPHA:142
Prader-Willi Syndrome Due To Translocation
Patent ductus arteriosus, Patent foramen ovale, Obesity, Abnormal heart morphology ORPHA:177907
Multisystemic Smooth Muscle Dysfunction Syndrome
Atrial septal defect, Hypertension, Pulmonary arterial hypertension, Mydriasis OMIM:613834
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Obesity OMIM:103580
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Death in infancy, Ventricular septal defect, Hematochezia, Death in childhood, Ename... OMIM:243150
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly OMIM:619123
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitonea... ORPHA:449395
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Exaggerated startle response, Cognitive impairment, Dystonia ORPHA:309246
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Flexion contracture of finger, Ventricular septal defect, Small for gestati... ORPHA:464311
Cantú Syndrome
Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Lateral Meningocele Syndrome
Decreased muscle mass, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Patent ... OMIM:130720
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Irritability, Joint contracture, Failure to t... OMIM:617864
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Limb hypertonia OMIM:616920
Senior-Loken Syndrome 8
Pallor OMIM:616307
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia, Diaphr... OMIM:222448
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1770
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Pentalogy Of Cantrell
Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic... ORPHA:1335
Cat Eye Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... OMIM:115470
Niemann-Pick Disease Type C
Axial dystonia, Hepatomegaly, Dystonia, Bone-marrow foam cells, Fetal ascites, Tremor, Splenomega... ORPHA:646
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Small for gestational age, Ventricular septal defect, Subvalvular aortic st... OMIM:614114
Hyperekplexia 3
Exaggerated startle response, Syncope, Hiatus hernia OMIM:614618
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Adenohypophysitis
Orthostatic hypotension, Pallor ORPHA:95512
Ring Chromosome Y Syndrome
Obesity ORPHA:261529
Hyperekplexia 2
Exaggerated startle response, Astigmatism, Hiatus hernia OMIM:614619
Childhood Absence Epilepsy
Pallor ORPHA:64280
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Intestinal Botulism
Mydriasis ORPHA:178481
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:457193
Systemic Lupus Erythematosus
Hemolytic anemia, Raynaud phenomenon, Lymphadenopathy, Depression, Leukopenia, Hypertension, Thro... ORPHA:536
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Splenomegaly, Arthrogryposis multiplex congenita, Arrhythmia, Heterochromia iridis ORPHA:163746
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Bardet-Biedl Syndrome 20
Atrial septal defect, Obesity OMIM:619471
Hepatoerythropoietic Porphyria
Hemolytic anemia, Scarring, Abnormal circulating porphyrin concentration, Splenomegaly, Scarring ... ORPHA:95159
Mckusick-Kaufman Syndrome
Failure to thrive, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, A... ORPHA:2473
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Per... OMIM:301040
Panhypophysitis
Orthostatic hypotension, Pallor ORPHA:95513
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Inguinal hernia, Ventricular septal defect, Elbow contracture, Elbow flexion con... OMIM:178110
Holt-Oram Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... OMIM:142900
Papa Syndrome
Lymphadenopathy ORPHA:69126
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Inguinal hernia, Redundant neck skin, Ventricular septal defect OMIM:235255
1P36 Deletion Syndrome
Failure to thrive, Abnormal heart valve morphology, Camptodactyly of finger, Patent ductus arteri... ORPHA:1606
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Vascular Ehlers-Danlos Syndrome
Keratoconus, Inguinal hernia, Abnormal heart valve morphology, Telangiectasia of the skin, Transi... ORPHA:286
Retinoblastoma
Vitreous hemorrhage, Leukemia, Leukocoria OMIM:180200
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Obesity, Abnormal ... ORPHA:444077
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Ventricular septal defect, Inability to walk, Difficulty walking, Atrial septal ... ORPHA:464738
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... ORPHA:353281
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Ventricular septal defect, Bicuspid aortic valve, Impaired pain sensation, Abnormal heart morphol... ORPHA:453499
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Small for gestational age, Scarring, Microcytic anemia, Keratitis, Le... ORPHA:99843
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Carpenter Syndrome 2
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Obesity,... OMIM:614976
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Corneal opacity, Cach... ORPHA:2072
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Umbilical hernia, Arthr... OMIM:618143
Incontinentia Pigmenti
Scarring, Pallor, Erythema, Retinal hemorrhage OMIM:308300
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:610338
Helsmoortel-Van Der Aa Syndrome
Facial palsy, Obesity, Heart murmur, Mitral valve prolapse, Abnormal heart morphology, Truncal ob... OMIM:615873
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Double outlet right ventricle, Single ventricle of indeterminate morphology, Hypo... OMIM:620294
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Fanconi Anemia, Complementation Group B
Death in infancy, Patent ductus arteriosus, Ventricular septal defect OMIM:300514
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Large for gestational age, Pulm... OMIM:607721
Letterer-Siwe Disease
Pallor OMIM:246400
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Methimazole Embryofetopathy
Ventricular septal defect ORPHA:1923
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Ataxia... ORPHA:466791
Williams-Beuren Syndrome
Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Failure t... OMIM:194050
Mgat2-Cdg
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Reflex asystolic ... ORPHA:79329
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Right bundle branch... OMIM:617506
Medullary Thyroid Carcinoma
Weight loss, Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Flexion contracture, Abnormal hemoglobin, Anemia, Depression ORPHA:847
Dysosteosclerosis
Ventricular septal defect, Abnormal dental enamel morphology ORPHA:1782
Diamond-Blackfan Anemia 10
Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di... OMIM:613309
Distal Deletion 19P
Vaginal hernia, Ventricular septal defect, Keloids, Tricuspid valve prolapse, Umbilical hernia, P... ORPHA:96129
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Omphalocele, Ventricular septal defect OMIM:145420
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Inguinal hernia, Ventricular septal defect OMIM:616449
Phaver Syndrome
Ventricular septal defect, Camptodactyly of finger ORPHA:2876
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Inguinal hernia, Ventricular septal defect, Heart murmur ORPHA:166035
Kabuki Syndrome
Failure to thrive, Abnormal cardiac septum morphology, Obesity, Congenital diaphragmatic hernia ORPHA:2322
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Cushing Disease
Dorsocervical fat pad, Myocardial infarction, Increased body weight, Skin ulcer, Proximal amyotro... ORPHA:96253
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia ORPHA:99867
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Absence of subcutaneous fat, Gait ataxia,... ORPHA:33364
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Ventricular septal defect, Foot joint contracture, Mitral valve prolapse, Abnorm... ORPHA:444072
Bickerstaff Brainstem Encephalitis
Anisocoria, Confusion, Mydriasis ORPHA:79138
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Prolactinoma
Pallor, Hypotension ORPHA:2965
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Generalized Pustular Psoriasis
Overweight, Congestive heart failure, Obesity ORPHA:247353
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Small for gestation... ORPHA:464306
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopat... ORPHA:538
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Müllerian Aplasia And Hyperandrogenism
Obesity ORPHA:247768
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Omphalocele, Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute... OMIM:265380
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect ORPHA:1908
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Ventricular septal defect, Dry skin OMIM:619306
Thauvin-Robinet-Faivre Syndrome
Inguinal hernia, Ventricular septal defect, Large for gestational age, Mitral valve prolapse, Mac... OMIM:617107
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension, Truncal obesity, Striae distensae OMIM:610489
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive, Flexion contracture OMIM:618201
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Corona... OMIM:614294
Achondroplasia
Obesity ORPHA:15
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:77298
Pseudotrisomy 13 Syndrome
Omphalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atr... OMIM:264480
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypertension, Obesity ORPHA:69663
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Obesity OMIM:194072
Knobloch Syndrome 1
Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination defect, L... OMIM:267750
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Inhalational Botulism
Mydriasis ORPHA:254504
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... OMIM:618280
Mosaic Trisomy 9
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... ORPHA:99776
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect OMIM:611134
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Hernia ORPHA:96097
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia OMIM:612530
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity OMIM:609734
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hypertension, Pallor, Hypertensive crisis ORPHA:544482
Oculodentodigital Dysplasia
Ventricular septal defect, Camptodactyly of finger, Ataxia, Abnormal dental enamel morphology, Ga... ORPHA:2710
Down Syndrome
Redundant neck skin, Ventricular septal defect, Complete atrioventricular canal defect, Patent du... OMIM:190685
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Small for gestational age, Patent ductus arteriosus, Unsteady gait, Fl... OMIM:180849
Dysbetalipoproteinemia
Tendon xanthomatosis, Angina pectoris, Obesity ORPHA:412
Bohring-Opitz Syndrome
Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abnormal cardiac septu... ORPHA:97297
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Ventricular septal defect OMIM:615503
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Small for gestational age, Obesity, Impaired temperature sensation ORPHA:98754
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein ... ORPHA:420741
Meningioma
Ataxia, Facial palsy, Cerebral hemorrhage, Obesity, Upper limb muscle weakness, Syncope, Difficul... ORPHA:2495
Oculo-Palato-Cerebral Syndrome
Cataract, Leukocoria ORPHA:2714
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Small for gestational age, Obesity, Impaired temperature sensation ORPHA:98793
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale OMIM:620113
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Small for gestational age, Obesity, Impaired temperature sensation ORPHA:177904
Marden-Walker Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... ORPHA:2461
Mody
Overweight, Obesity, Large for gestational age ORPHA:552
Wagro Syndrome
Hypertension, Obesity OMIM:612469
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Small for gestational age, Obesity, Impaired temperature sensation ORPHA:177901
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Inability to walk, Macroglos... ORPHA:488632
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d... ORPHA:1780
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Ventricular septal defect, Cardiomyopathy, Macroglossia, Atr... ORPHA:769
Mosaic Trisomy 16
Ventricular septal defect, Small for gestational age, Patent ductus arteriosus, Abnormal heart mo... ORPHA:1708
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Bradycardia OMIM:608800
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... OMIM:612474
Hand-Foot-Genital Syndrome
Miscarriage, Ventricular septal defect ORPHA:2438
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Asparagine Synthetase Deficiency
Exaggerated startle response, Tremor, Irritability, Failure to thrive, Hypoasparaginemia OMIM:615574
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cellulitis, Arrhythmia, Tetralogy of Fallot OMIM:153400
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Ventricular septal defect OMIM:300472
Trisomy 18
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:3380
Digeorge Syndrome
Posterior embryotoxon, Inguinal hernia, Ventricular septal defect, Femoral hernia, Sclerocornea, ... OMIM:188400
Marshall-Smith Syndrome
Omphalocele, Failure to thrive, Ventricular septal defect, Patent ductus arteriosus, Premature ve... OMIM:602535
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Heart murmur, Palpitatio... ORPHA:100079
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi... ORPHA:2035
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... OMIM:270100
Igg4-Related Ophthalmic Disease
Cholangitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal... ORPHA:449563
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ... ORPHA:79280
Hajdu-Cheney Syndrome
Inguinal hernia, Ventricular septal defect, Mitral stenosis, Patent ductus arteriosus, Dry skin, ... ORPHA:955
Noonan Syndrome 3
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... OMIM:609942
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Difficulty walking, Tetralogy of Fallot, Paten... OMIM:618748
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hematochezia, Overweight, Failure to thrive, Ventricular septal defect OMIM:619575
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Choreoathetosis, Episodic ataxia, Umbilical hernia, Failure to thrive ORPHA:1934
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Broad-based gait, Inguinal hernia, Ventricular septal defect, Abnormal pulm... ORPHA:268261
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Pericardial effusion, Camptodactyly, Atr... OMIM:235510
Short-Rib Thoracic Dysplasia 12
Omphalocele, Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Neonatal death... OMIM:269860
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... ORPHA:353277
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Ventricular septal defect, Facial palsy, Patent ductus arteriosus, Joint contracture... OMIM:300373
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Impaired pain sensation, Inability to walk, Typ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Impaired pain sensation, Inability to walk, Typ... ORPHA:352665
Mandibulofacial Dysostosis, Guion-Almeida Type
Atrial septal defect, Ventricular septal defect OMIM:610536
Lateral Meningocele Syndrome
Umbilical hernia, Inguinal hernia, Ventricular septal defect ORPHA:2789
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... OMIM:618454
Pneumocystosis
Weight loss, Abnormal neutrophil count ORPHA:723
Witteveen-Kolk Syndrome
Inguinal hernia, Cataract, Small for gestational age, Congenital diaphragmatic hernia, Obesity, C... OMIM:613406
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ... OMIM:616894
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Ventricular septal defect, Cerebral hemorrhage, Hiatus hernia, Patent ductus arteriosus, Unsteady... OMIM:616682
Alg9-Cdg
Omphalocele, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Lipodystrophy, Hypo... ORPHA:79328
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad-based gait, Ventricular septal defect ORPHA:251028
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Obesity ORPHA:2235
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Inguinal hernia, Ventricular septal defect, Large for gestational age, Abnormal right ventricle m... ORPHA:500095
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Flexion contracture, Knee flexion contracture, Facial erythema, Scaling skin, Diaphragmatic event... OMIM:619503
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... OMIM:607872
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger ORPHA:261236
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Coronary sinus enlargement, Tip-toe gait, Atrial septal defect, Dry sk... OMIM:619268
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Elevated pulmonary artery pressure, Peritonitis, Mydriasis OMIM:619351
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity, Dysmetria, Gait ataxia ORPHA:75857
Chime Syndrome
Ventricular septal defect, Erythema, Tetralogy of Fallot, Skin ulcer, Transposition of the great ... ORPHA:3474
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... OMIM:610759
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Patent ductus arteriosus, Double outlet right ventricle, Dry skin, Pul... ORPHA:163956
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Trichohepatoneurodevelopmental Syndrome
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Distal arthrogryposis, Decreas... OMIM:618268
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Transient ischemic attack, Left ventricular systolic dysfunction, Choroi... ORPHA:51608
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
Ulnar-Mammary Syndrome
Inguinal hernia, Ventricular septal defect, Elbow flexion contracture, Obesity, Arrhythmia OMIM:181450
Mosaic Trisomy 1
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:1692
Narcolepsy 7
Obesity OMIM:614250
3Mc Syndrome 1
Conjunctival telangiectasia, Omphalocele, Ventricular septal defect, Diastasis recti, Patent duct... OMIM:257920
Opitz Gbbb Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... ORPHA:2745
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect,... ORPHA:438213
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia OMIM:611812
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Inguinal hernia, Ventricular septal defect, Ataxia, Inability to walk, Dilatation of the ventricu... ORPHA:459070
Frank-Ter Haar Syndrome
Redundant neck skin, Ventricular septal defect, Secundum atrial septal defect, Mitral valve prola... OMIM:249420
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Ventricular septal defect, Gait ataxia, Lower-limb joint contracture, Failure t... ORPHA:513456
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Death in childhood OMIM:600460
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Dystonia OMIM:272750
Holoprosencephaly
Omphalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Failure to thrive in... ORPHA:2162
Costello Syndrome
Redundant neck skin, Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Mi... OMIM:218040
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Dystonia ORPHA:438216
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Flexion contracture OMIM:609541
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Contractures of the large joints, Exaggerated startle response, Failure to thrive, Cognitive impa... OMIM:617527
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Failure to thrive, Hip contracture, Ventricular septal defect, Shoulder flexion... OMIM:210710
Fryns Syndrome
Omphalocele, Ventricular septal defect, Large for gestational age, Stillbirth, Aplasia of the lef... OMIM:229850
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Multiple joint contractures ORPHA:320406
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Ar... OMIM:617301
Jacobsen Syndrome
Atrial septal defect, Flexion contracture, Failure to thrive, Ventricular septal defect OMIM:147791
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right... ORPHA:2209
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Atrial septal defec... ORPHA:3047
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect OMIM:219730
Prader-Willi Syndrome
Hypertension, Abdominal obesity, Failure to thrive, Impaired temperature sensation ORPHA:739
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Waddling gait, Tricuspid regurgitation, Ventricula... OMIM:143095
Webb-Dattani Syndrome
Obesity OMIM:615926
Sponastrime Dysplasia
Cataract, Small for gestational age, Neutropenia, Microcoria, Congenital aphakia ORPHA:93357
Duane-Radial Ray Syndrome
Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep... OMIM:607323
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Atrial... ORPHA:261330
Hyperekplexia 1
Umbilical hernia, Exaggerated startle response, Inguinal hernia OMIM:149400
Tetraamelia Syndrome 2
Ventricular septal defect OMIM:618021
Brachytelephalangic Chondrodysplasia Punctata
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:79345
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Microcephalic Primordial Dwarfism, Dauber Type
Obesity ORPHA:319675
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Lower limb dysmetria, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse... ORPHA:363700
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Macroglossia, Umbilical hernia ORPHA:96191
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect, Camptodactyly OMIM:272950
Opitz Gbbb Syndrome
Umbilical hernia, Inguinal hernia, Ventricular septal defect OMIM:300000
Cherubism
Marcus Gunn pupil, Macular scar, Submandibular lymph node enlargement OMIM:118400
Robinow Syndrome
Ventricular septal defect, Small for gestational age, Abnormal heart morphology, Pulmonic stenosi... ORPHA:97360
Codas Syndrome
Omphalocele, Ventricular septal defect, Atrial septal defect, Atrioventricular canal defect, Enam... OMIM:600373
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect, Limb hypertonia OMIM:609460
Autosomal Recessive Robinow Syndrome
Death in infancy, Inguinal hernia, Ventricular septal defect, Abnormal pulmonary valve morphology... ORPHA:1507
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Truncal obesity, Obesity ORPHA:466950
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Redundant neck skin, Miscarriage, Ventricular septal defect, Interphalangeal joint c... ORPHA:96334
Xylt1-Cdg
Truncal obesity ORPHA:370930
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Obesity ORPHA:209902
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... OMIM:614609
Hajdu-Cheney Syndrome
Inguinal hernia, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Failure t... OMIM:102500
Plaa-Associated Neurodevelopmental Disorder
Contractures of the large joints, Exaggerated startle response, Failure to thrive, Dystonia ORPHA:521426
Bloom Syndrome
Adipose tissue loss, Abdominal obesity, Small for gestational age, Telangiectasia ORPHA:125
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Camptodactyly of finger ORPHA:251014
Craniopharyngioma
Cerebral ischemia, Obesity, Myocardial infarction ORPHA:54595
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... OMIM:615067
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Anemic pallor ORPHA:329971
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... OMIM:157800
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Umbilical hernia, Obesity OMIM:301066
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Chikungunya
Epistaxis, Raynaud phenomenon, Cervical lymphadenopathy, Depression, Lymphadenopathy, Enthesitis ORPHA:324625
Intellectual Developmental Disorder, Autosomal Dominant 29
Obesity OMIM:616078
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Flexion contracture, Double ou... OMIM:300166
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Knee flexion contracture OMIM:620232
Phace Association
Patent ductus arteriosus, Ventricular septal defect OMIM:606519
Coffin-Siris Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Hernia, Atrial se... ORPHA:1465
Velocardiofacial Syndrome
Umbilical hernia, Inguinal hernia, Tetralogy of Fallot, Ventricular septal defect OMIM:192430
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... OMIM:100300
Igg4-Related Submandibular Gland Disease
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Lymphadenopathy ORPHA:449432
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia... ORPHA:508498
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Decr... OMIM:271640
Yunis-Varon Syndrome
Cataract, Ventricular septal defect, Sclerocornea, Cardiomegaly, Renovascular hypertension, Cardi... ORPHA:3472
Pallister-Hall Syndrome
Neonatal death, Patent ductus arteriosus, Ventricular septal defect OMIM:146510
Renal Agenesis
Hypertension, Ventricular septal defect ORPHA:411709
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:268249
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Hepatoblastoma, ... OMIM:130650
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity, Enamel hypoplasia OMIM:210720
Orofaciodigital Syndrome V
Tetralogy of Fallot, Ventricular septal defect OMIM:174300
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age,... ORPHA:363958
Aromatase Deficiency
Eunuchoid habitus, Obesity, Tall stature ORPHA:91
Neu-Laxova Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Yellow subcutaneous tissue covered by thin, ... OMIM:256520
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:300712
Arboleda-Tham Syndrome
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Upper limb am... OMIM:616268
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical... ORPHA:1519
Noonan Syndrome 1
Ventricular septal defect, Failure to thrive in infancy, Patent ductus arteriosus, Pulmonic steno... OMIM:163950
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect, Mydriasis OMIM:619727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor, Muscular dystrophy OMIM:253280
Zttk Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, A... OMIM:617140
Retinitis Pigmentosa 74
Obesity OMIM:616562
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Ventricular septal defect, Shoulder muscle hypoplasia, Patent ductus arteriosus... OMIM:274000
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Diaphragmatic Hernia 4, With Cardiovascular Defects
Diaphragmatic eventration, Ventricular septal defect, Aortopulmonary window, Aplasia of the left ... OMIM:620025
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... OMIM:301043
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Atria... ORPHA:163979
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Woodhouse-Sakati Syndrome
Hyperlipidemia, Choreoathetosis, Dystonia, Mental deterioration, Abnormal T-wave ORPHA:3464
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Weight loss, Lymphadenopathy, Keratoconjunctivitis sicca, Thrombocytopenia ORPHA:79078
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Inabili... OMIM:601803
Distal 22Q11.2 Microduplication Syndrome
Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Patent ductus arteri... ORPHA:261337
Diets-Jongmans Syndrome
Umbilical hernia, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia OMIM:618846
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Obesity OMIM:619269
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Tall stature OMIM:616975
Carney Complex
Striae distensae, Dorsocervical fat pad, Cardiac myxoma, Congestive heart failure, Increased body... ORPHA:1359
Cornelia De Lange Syndrome 1
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Hiatus hernia, Elbow... OMIM:122470
Chromosome 16P13.3 Duplication Syndrome
Inguinal hernia, Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyl... OMIM:613458
Adnp Syndrome
Truncal obesity, Inguinal hernia, Umbilical hernia ORPHA:404448
Jacobsen Syndrome
Death in infancy, Inguinal hernia, Ventricular septal defect, Hypoplastic left heart, Aortic valv... ORPHA:2308
Okamoto Syndrome
Omphalocele, Redundant neck skin, Ventricular septal defect, Abnormal left ventricle morphology, ... ORPHA:2729
Limb Body Wall Complex
Ventral hernia, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abno... ORPHA:2369
Cerebrocostomandibular Syndrome
Death in infancy, Ventricular septal defect ORPHA:1393
Cornelia De Lange Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Truncal obesity, Atrial septal defect... ORPHA:199
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
White-Kernohan Syndrome
Obesity OMIM:619426
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Failure to thrive, Ventricular septal defect, Ventricular septal hypertrophy OMIM:608670
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Inguinal hernia, Ventricular septal defect, Small for gestational ag... ORPHA:508488
Woodhouse-Sakati Syndrome
Choreoathetosis, Abnormal T-wave, Hyperlipidemia, Dystonia OMIM:241080
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Redundant neck skin, Failure to thrive, Obesity OMIM:617157
Acrofacial Dysostosis 1, Nager Type
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmati... OMIM:154400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect OMIM:263520
Simpson-Golabi-Behmel Syndrome, Type 1
Inguinal hernia, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Di... OMIM:312870
Monosomy 22Q13.3
Umbilical hernia, Obesity, Impaired pain sensation ORPHA:48652
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
Catel-Manzke Syndrome
Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Camptodactyly, Umbili... OMIM:616145
Renpenning Syndrome 1
Ventricular septal defect, Situs inversus totalis, Joint contracture of the hand, Death in childh... OMIM:309500
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Pa... ORPHA:818
Apert Syndrome
Overriding aorta, Ventricular septal defect OMIM:101200
Feingold Syndrome 1
Patent ductus arteriosus, Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis OMIM:164280
Mosaic Trisomy 20
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect ORPHA:1724
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Cerebrocostomandibular Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Elbow flexion contracture OMIM:117650
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... OMIM:301044
Alagille Syndrome 1
Atrial septal defect, Failure to thrive, Tetralogy of Fallot, Ventricular septal defect OMIM:118450
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Ventricular septal defect, Patent foramen ovale, Inguinal hernia OMIM:613884
Coffin-Siris Syndrome 1
Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteri... OMIM:135900
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
Hydrolethalus Syndrome 1
Omphalocele, Ventricular septal defect, Complete atrioventricular canal defect, Stillbirth, Agene... OMIM:236680
Holoprosencephaly 14
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia OMIM:619895
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Intestinal bleeding, Lymphadenopathy ORPHA:424016
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Obesity OMIM:614231
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Epidural hemorrhage, Inguinal h... OMIM:619472
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Ventricular septal defect ORPHA:436252
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect, Abnormal dental enamel morphology ORPHA:1071
Vater/Vacterl Association
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Transposition of the gr... OMIM:192350
Larsen Syndrome
Atrial septal defect, Ventricular septal defect OMIM:150250
Congenital Disorder Of Glycosylation, Type Iiw
Failure to thrive, Tetralogy of Fallot, Ventricular septal defect, Inguinal hernia OMIM:619525
Keutel Syndrome
Hypertension, Miscarriage, Ventricular septal defect, Pulmonic stenosis OMIM:245150
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obesity, Impaired pain sensation ORPHA:293987
Friedreich Ataxia 2
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... OMIM:601992
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Umbilical hernia, Broad-based gait, Ventricular septal defect OMIM:620330
Congenital Tracheal Stenosis
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart ORPHA:141127
Omodysplasia 1
Atrial septal defect, Umbilical hernia, Ventricular septal defect OMIM:258315
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Inguinal hernia, Pulmonic stenosis OMIM:134780
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Abdominal obesity, Flexion contracture OMIM:619321
Pallister-Hall Syndrome
Inguinal hernia, Ventricular septal defect, Large for gestational age, Patent ductus arteriosus, ... ORPHA:672
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... OMIM:182250
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Ataxia, Flexion contracture, Knee flexion contracture, ... OMIM:259050
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response OMIM:618367
Peters-Plus Syndrome
Ventricular septal defect, Diastasis recti, Patent ductus arteriosus, Pulmonic stenosis, Decrease... OMIM:261540
Charge Syndrome
Omphalocele, Overriding aorta, Ventricular septal defect, Facial palsy, Secundum atrial septal de... OMIM:214800
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Macroglossia, Lower limb hypertonia, Obesity OMIM:309580
Alström Syndrome
Somatic sensory dysfunction, Ataxia, Dorsocervical fat pad, Portal hypertension, Congestive heart... ORPHA:64
Johanson-Blizzard Syndrome
Ventricular septal defect, Small for gestational age, Portal hypertension, Situs inversus totalis... OMIM:243800
Sotos Syndrome
Hip contracture, Inguinal hernia, Ventricular septal defect, Ankle flexion contracture, Patent du... ORPHA:821
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Ventricular septal defect ORPHA:434179
Townes-Brocks Syndrome 1
Ventricular septal defect, Small for gestational age, Atrial septal defect, Umbilical hernia, Tet... OMIM:107480
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Orofaciodigital Syndrome Xiv
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:615948
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect ORPHA:141099
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Exaggerated startle response, Ventricular septal defect, Attention deficit ... OMIM:619522
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Ankle flexion contracture, Patent ductus arteriosus, Elbow flexion con... OMIM:268300
Yunis-Varon Syndrome
Redundant neck skin, Ventricular septal defect, Small for gestational age, Failure to thrive in i... OMIM:216340
Genitopatellar Syndrome
Atrial septal defect, Hip contracture, Ventricular septal defect, Knee flexion contracture OMIM:606170
Penile Agenesis
Atrial septal defect, Ventricular septal defect ORPHA:49
Kabuki Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:147920
Craniofacial Microsomia 1
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of facial mu... OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ppp2r5c

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ppp2r5c.

No publications found that use IMPC mice or data for Ppp2r5c.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Ppp2r5ctm256213(L1L2_gt0_Del_LacZ) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ppp2r5ctm256213(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ppp2r5cem1(IMPC)Mbp Exon Deletion Mice, Tissue
Ppp2r5ctm256213(pL1L2_frt15_BetactinBSD_frt14_neo_Rox) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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