Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
decreased startle reflex Ppp2r5cem1(IMPC)Mbp HOM Early adult 7.17×10-10
enlarged lymph nodes Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
decreased grip strength Ppp2r5cem1(IMPC)Mbp HOM Early adult 1.68×10-15
increased blood urea nitrogen level Ppp2r5cem1(IMPC)Mbp HOM   Early adult 2.13×10-08
increased heart weight Ppp2r5cem1(IMPC)Mbp HOM Early adult 3.01×10-08
increased total body fat amount Ppp2r5cem1(IMPC)Mbp HOM Early adult 1.08×10-05
abnormal spleen morphology Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Ppp2r5cem1(IMPC)Mbp HOM Early adult 2.14×10-05
abnormal lymph node morphology Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
shortened ST segment Ppp2r5cem1(IMPC)Mbp HOM Early adult 2.05×10-06
enlarged heart Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
abnormal placement of pupils Ppp2r5cem1(IMPC)Mbp HOM Early adult 4.40×10-11
increased circulating alkaline phosphatase level Ppp2r5cem1(IMPC)Mbp HOM   Early adult 6.73×10-06
decreased lean body mass Ppp2r5cem1(IMPC)Mbp HOM Early adult 1.21×10-05
shortened QT interval Ppp2r5cem1(IMPC)Mbp HOM Early adult 9.38×10-05
increased mean corpuscular hemoglobin Ppp2r5cem1(IMPC)Mbp HOM Early adult 3.44×10-05
preweaning lethality, incomplete penetrance Ppp2r5cem1(IMPC)Mbp HOM   Early adult 0.00
irregularly shaped pupil Ppp2r5cem1(IMPC)Mbp HOM Early adult 7.54×10-15
increased mean corpuscular volume Ppp2r5cem1(IMPC)Mbp HOM Early adult 4.81×10-10
increased neutrophil cell number Ppp2r5cem1(IMPC)Mbp HOM Early adult 5.50×10-05
abnormal heart morphology Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00

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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.


XRay Images Whole Body Dorso Ventral

30 Images


XRay Images Whole Body Lateral Orientation

10 Images

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
Matching phenotypes Source
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... ORPHA:232
Dehydrated Hereditary Stomatocytosis
Increased total bilirubin, Intermittent jaundice, Cholelithiasis, Congenital hemolytic anemia, In... ORPHA:3202
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ventricular dia... ORPHA:75565
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Lethargy, Gait disturbance, Pallor ORPHA:79283
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Jaundi... OMIM:616689
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, Left vent... ORPHA:90065
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Dementia, Splenomegaly, Hepatomegaly ORPHA:2274
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Endocardial fibrosis OMIM:235550
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... OMIM:619041
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Atrial septal defect, ... OMIM:612561
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Abnormal circulating creatine kinase concentration, Ventricular hypertrophy, Right bundle branch ... ORPHA:263297
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... OMIM:261000
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Paresthesia, Pallor, Impaired distal tactile sensation, Myocardial ... ORPHA:90064
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Neonatal Lupus Erythematosus
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Dilated cardiomyopathy, Abnormal... ORPHA:398124
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Drug-Induced Lupus Erythematosus
Anemia, Pericardial effusion, Elevated circulating creatine kinase concentration, Pericarditis, I... ORPHA:231111
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Neutropenia, Jaundice, Lymphadenopathy, Increased circulating ferritin co... OMIM:603552
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Ventricular septal defect, Paresthesia, Cardiac arrest, Congestive... ORPHA:49827
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Generalized amyotrophy, Pallor, Failure to thrive, Hypertrophic cardiomyopathy, Lethargy, Ragged-... OMIM:613561
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Ventricular arrhythmia, Conjunctival icterus, Hepatomegal... ORPHA:57777
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Weight loss ORPHA:52416
Isolated Ectopia Lentis
Cognitive impairment, Hypertension, Ectopia lentis, Cataract, Ectopia pupillae ORPHA:1885
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Ele... OMIM:604765
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Tako-Tsubo Cardiomyopathy
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... ORPHA:66529
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... OMIM:612422
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, Enlarged kidney, T-wave inversion, ST segment depression, Cong... OMIM:261740
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... OMIM:615234
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, Cardiomyocyte hy... OMIM:613507
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Congestive heart failure, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Gait disturbance ORPHA:436141
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... ORPHA:98855
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hepatic steatosis, Increased blood urea nitrogen, Failure to thrive, Hepatomegaly, ... OMIM:617872
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... OMIM:618849
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly OMIM:602079
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, T lymphocytopenia, Abnormal B cell morphology, Atrial septal defec... OMIM:618223
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Myofibrillar Myopathy 10
Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Left ventricular hype... OMIM:619040
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... ORPHA:98853
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Ventricular septal defect, Atrial septal defect, Proximal amyotrophy, Pr... OMIM:253300
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Hemolytic anemia, Choreoathetosis, Reticulocytosis, Tremor, Irritabili... OMIM:612126
Methylcobalamin Deficiency Type Cble
Abnormality of the liver, Hyperhomocystinemia, Hypertension, Hypomethioninemia, Pancytopenia, Fai... ORPHA:2169
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Ataxia, Pallor ORPHA:71518
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Failure to thrive, Tetralogy of Fallot,... OMIM:601127
Congenital Toxoplasmosis
Anemia, Cognitive impairment, Ascites, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thr... ORPHA:858
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Majeed Syndrome
Flexion contracture, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume... OMIM:609628
Cardiomegaly OMIM:227150
Hyperinsulinism Due To Ucp2 Deficiency
Syncope, Large for gestational age, Pallor, Hypertrophic cardiomyopathy, Palpitations, Lethargy, ... ORPHA:276556
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... OMIM:615996
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Elbow flexion contracture, Supraventricular arrhythmia, Decreased cervical ... ORPHA:98863
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Lef... ORPHA:85451
Anemia, Cognitive impairment, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal... ORPHA:846
Cyclic Vomiting Syndrome
Pallor, Lethargy, Ataxia, Cardiomyopathy OMIM:500007
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume OMIM:252270
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Extramedullary hematopoiesis, Hepatocellular carcinoma, Hepatosp... ORPHA:231226
Eisenmenger Syndrome
Atrioventricular canal defect, Brain abscess, Aortopulmonary window, Ventricular arrhythmia, Supr... ORPHA:97214
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Proximal muscle weakness in lower limbs, Fatty replacement of skeletal muscle, Obesity, Distal lo... ORPHA:171706
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac septum morphology ORPHA:3319
Distal Monosomy 6P
Posterior embryotoxon, Self-injurious behavior, Hypoplasia of the iris, Anterior synechiae of the... ORPHA:96125
Immunodeficiency 104
T lymphocytopenia, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Hepatome... OMIM:608971
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... OMIM:601494
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... OMIM:300946
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Ataxia, Obesity, Broad-based gait, Waddling gait OMIM:616756
Myopathic Ehlers-Danlos Syndrome
Knee flexion contracture, Increased variability in muscle fiber diameter, Foot joint contracture,... ORPHA:536516
Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... ORPHA:848
Sandhoff Disease
Motor deterioration, Congestive heart failure, Failure to thrive, Hepatomegaly, Splenomegaly, Pro... ORPHA:796
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Beta-Thalassemia Major
Abnormality of iron homeostasis, Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Sple... ORPHA:231214
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Cholelithiasis, Cirrhosis, Abnormality of iron homeostasis, Abno... ORPHA:231222
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Jaundice, Pancytopenia, Hepatomegaly, Increased mean corpuscular volume, Th... OMIM:613839
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Syncope, Large for gestational age, Pallor, Hypertrophic cardiomyopathy, Palpitations, Lethargy, ... ORPHA:276575
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Retinal hemorrhage, Acute myeloid leukemia, Abnormal ... ORPHA:86839
Hemochromatosis, Type 2B
Splenomegaly, Cirrhosis, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Congestive he... OMIM:613313
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... OMIM:607616
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Syncope, Large for gestational age, Pallor, Hypertrophic cardiomyopathy, Palpitations, Lethargy, ... ORPHA:276580
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Atria... OMIM:602482
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Hypoamylasemia, Impaired neutrophil chemotaxis, Bone marrow hypocellulari... ORPHA:811
Rheumatic Fever
Endocarditis, Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal mitral valve... ORPHA:3099
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Microvesicular hepatic steatosis, Normochromic microcytic anemia, Dilated c... OMIM:610198
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Hypocalcemi... OMIM:601005
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Hypomimic face, Left ventricular hypertrophy, Gait disturbance, Dysmetria, Uns... ORPHA:93952
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume OMIM:620044
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... OMIM:613101
Narcolepsy Type 1
Obesity, Syncope ORPHA:2073
Overhydrated Hereditary Stomatocytosis
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly, Myeloproliferative disorder, Eosi... OMIM:607685
Left Ventricular Noncompaction 1
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... OMIM:604169
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Abnormal heart morphology, Persistent ... ORPHA:1067
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... OMIM:613179
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Lymphopenia, Autoi... OMIM:617514
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Increased circulating ferritin conce... OMIM:618963
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, Impaired pain sensation, Loss of ambulation, Foot dorsiflexor weakness, Unsteady gait, Ob... OMIM:618124
Immunodeficiency 27A
Anemia, Weight loss, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocyt... OMIM:209950
Infantile Sialic Acid Storage Disease
Congestive heart failure, Failure to thrive, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymp... OMIM:269920
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Flexion contracture, Joint contracture, Elevated circulating creatine ... OMIM:160565
Anemia, Congenital Dyserythropoietic, Type Iv
Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hypertrophic cardiomyopathy... OMIM:613673
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Cranioacrofacial Syndrome
Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect OMIM:122850
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly, Hepatomegaly OMIM:619175
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Congenital hemolytic anemia, Unconjugated hyperbilirubinemia, Elevated tran... ORPHA:766
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Somatic sensory dysfunction, Telangiectasia, Muscular dystro... ORPHA:459033
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hypertension, Diffuse alveolar hemo... OMIM:614034
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... ORPHA:75566
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pericardial effusion, Elevated circulating creatine kinase concentration, Hepatomegaly, Patent fo... ORPHA:26793
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Death... OMIM:614096
Obesity, Increased waist to hip ratio OMIM:601665
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Choreoathetosis, Pancreatitis, Failure to thrive, Hyperammonemia, Hepatomegaly, Thrombocy... ORPHA:79312
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo... OMIM:611590
Brugada Syndrome 7
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Optic Atrophy 1
Ataxia, Pallor OMIM:165500
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Choreoathetosis, Ventricular septal defect, Atrial septal defect OMIM:614249
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Weight loss, Hypophosphatemia, Hypercalcemia, Lipoma, Chondrocalcinosi... ORPHA:143
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Hypocalcemia, Splenomegaly ORPHA:100025
Familial Pseudohyperkalemia
Stomatocytosis, Hyperkalemia, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased... ORPHA:90044
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Scorpion Envenomation
Myocarditis, Mydriasis, T-wave inversion, Cardiogenic shock, Hypokalemia, Prominent U wave, Bundl... ORPHA:466677
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... OMIM:237800
Atrial Septal Defect, Ostium Secundum Type
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... ORPHA:99103
Spastic Paraplegia 11, Autosomal Recessive
Impaired vibration sensation in the lower limbs, Impaired distal vibration sensation, Tip-toe gai... OMIM:604360
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Tremor, Hepatomegaly, Thrombocytopenia, Irritability, Dystonia, Splenomegaly OMIM:615010
Castleman Disease
Anemia, Restrictive cardiomyopathy, Weight loss, Jaundice, Generalized lymphadenopathy, Decreased... ORPHA:160
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbi... OMIM:618278
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Diamond-Blackfan Anemia 3
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Pseudo-Torch Syndrome 3
Lymphadenitis, Anemia, Cerebral hemorrhage, Hypertension, Increased circulating ferritin concentr... OMIM:618886
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Decreased body weight, Increased blood urea nitrogen, Failure to thrive, Hyperam... OMIM:620085
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... ORPHA:75564
Mu-Heavy Chain Disease
Anemia, Weight loss, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100024
Primary Lateral Sclerosis, Juvenile
Loss of ambulation, Spasticity of facial muscles, Spastic gait, Pallor OMIM:606353
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Hypophosphatemia, Hypercalcemia, Lipoma, Chondrocalcinosis, Shortened ... ORPHA:99880
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood... OMIM:613845
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Hemolytic anemia, Limb dystonia, Polyco... OMIM:175780
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Elevated circulating creatine kinase concentration ORPHA:101082
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Increased pulmonary capillary wedge pressure, Abn... ORPHA:97292
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Obesity, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Nemaline Myopathy 9
Nemaline bodies, Arthrogryposis multiplex congenita, Ventricular septal defect OMIM:615731
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Recessive Mitochondrial Ataxia Syndrome
Cognitive impairment, Increased serum pyruvate, ST segment elevation ORPHA:94125
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Griscelli Syndrome Type 2
Iris hypopigmentation, Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hyperlipidemia,... ORPHA:79477
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect, Gait ataxia OMIM:619717
Burkitt Lymphoma
Abnormal lymph node morphology, Hyperuricemia, Abnormality of the pancreas, Abnormality of the li... ORPHA:543
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Intention tremor, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Spl... OMIM:610539
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Transient ischemic attack, Microangiopathic hemolytic anemia, Jaundi... OMIM:274150
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... OMIM:106210
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Blackfan-Diamond Anemia
Acute myeloid leukemia, Developmental glaucoma, Leukopenia, Ventricular septal defect, Reticulocy... ORPHA:124
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Lethargy, Tachycardia, Increased body weight ORPHA:276608
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Generalized lymphadenopathy, Hepatosplenomegaly, Autoimmune thrombocytope... OMIM:615559
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Autoimmune Hypoparathyroidism
Conjunctivitis, Hypocalcemic tetany, Hyperphosphatemia, Anxiety, Ventricular arrhythmia, Abnormal... ORPHA:36913
Cinca Syndrome
Anemia, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein con... OMIM:607115
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m... OMIM:277410
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Dilated cardiomyopathy, Astigmatism, Mitral regurgitation, Increased m... ORPHA:261250
Fish-Eye Disease
Angina pectoris, Lymphadenopathy, Decreased HDL cholesterol concentration, Corneal opacity, Hepat... ORPHA:79292
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Epistaxis, Hepatomegaly, Extramedulla... OMIM:612840
Diamond-Blackfan Anemia 7
Ventricular septal defect, Neutropenia, Secundum atrial septal defect, Macrocytic anemia, Increas... OMIM:612562
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Cellulitis, Lymphadenopathy, Dec... OMIM:615513
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly OMIM:118830
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Reticulocytopenia, Dysplastic erythropoesis, Decreased transferrin saturation, Anisopoiki... ORPHA:300298
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicular ... OMIM:614470
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia,... OMIM:308240
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Splenomegaly, Hepatomegaly ORPHA:139406
Hemochromatosis, Type 2A
Cirrhosis, Increased serum iron, Dilated cardiomyopathy, Congestive heart failure, Increased circ... OMIM:602390
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Failure to thrive, Hepatomegaly, Extramedullary hematopoiesi... OMIM:615285
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Prolonged QT interval, Joint contracture, Cataract, Elevated circulating creatine kinase concentr... OMIM:615351
Neuraminidase Deficiency
Inguinal hernia, Cataract, Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vacuolate... OMIM:256550
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Catel-Manzke Syndrome
Camptodactyly of finger, Failure to thrive, Ventricular septal defect, Atrial septal defect ORPHA:1388
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Hurler-Scheie Syndrome
Splenomegaly, Hernia, Corneal opacity, Abnormality of the tonsils, Hepatomegaly, Abnormal heart v... ORPHA:93476
Mehmo Syndrome
Gait ataxia, Inability to walk, Small for gestational age, Difficulty walking, Obesity OMIM:300148
Spontaneous Periodic Hypothermia
Pallor, Gait disturbance, Ataxia, Arrhythmia ORPHA:29822
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Syncope, Large for gestational age, Pallor, Palpitations, Lethargy, Ta... ORPHA:324575
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Scarring alopecia of scalp, Astigmatism, Cataract, Ectopia pupillae OMIM:618727
Mast Cell Sarcoma
Weight loss, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Rhabdoid Tumor
Anemia, Weight loss, Neoplasm of the liver, Hypertension, Internal hemorrhage, Lymphadenopathy, H... ORPHA:69077
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly, Vasculitis ORPHA:37748
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity, Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity, Hypertension OMIM:605572
Hemochromatosis, Type 1
Splenomegaly, Telangiectasia, Cirrhosis, Hepatocellular carcinoma, Congestive heart failure, Incr... OMIM:235200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Cognitive impairment, Microangiopathic hemolytic anemia, Hypertension, Reticulocytosis, Increased... OMIM:235400
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Hb Bart'S Hydrops Fetalis
Anemia, Congestive heart failure, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypertension, Increased blood urea nitrogen, Episodic hemolytic anemia, Hypercal... ORPHA:251004
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, H... ORPHA:507
Galactose Epimerase Deficiency
Weight loss, Jaundice, Cataract, Hepatomegaly, Splenomegaly ORPHA:79238
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Astigmatism, He... OMIM:617713
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Multiple lipomas, Inability to walk, Dysdiadochok... OMIM:617675
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Elevated circulating creatine kinase concentration, Hepatic steatosis, Tachy... OMIM:613327
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Pulmonic ... OMIM:249670
Leber Congenital Amaurosis 14
Falls, Pallor OMIM:613341
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... OMIM:613011
Multiple Endocrine Neoplasia Type 1
Thymoma, Multiple lipomas, Weight loss, Neoplasm of the pancreas, Hypertension, Insulinoma, Hyper... ORPHA:652
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Cirrhosis, Anemia, Hepatic necrosis, Lymphopenia, Bone marrow hypocellularity, Increa... OMIM:127550
Long Qt Syndrome 16
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... OMIM:618782
Hec Syndrome
Abnormal pupil morphology, Endocardial fibroelastosis, Developmental cataract, Arrhythmia, Cardio... ORPHA:2119
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Death in infancy, Atrial septal defe... ORPHA:1354
Proteus-Like Syndrome
Abnormal pupil morphology, Limbal dermoid, Cataract, Heterochromia iridis, Shagreen patch, Thymus... ORPHA:2969
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Jaundice, Acholic stools, Portal fibrosis, Failure to thrive, Increase... OMIM:619868
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Obesity, Hypertension OMIM:608320
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Brain abscess, Weight loss, ... ORPHA:54251
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Immunodeficiency 64 With Lymphoproliferation
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Fa... OMIM:618534
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Umbilical hernia OMIM:615297
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Syncope, Arrhythmia, Iron deficiency anemia, Prolonged QTc interval, Ventricu... ORPHA:90647
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Progressive Familial Intrahepatic Cholestasis
Cognitive impairment, Jaundice, Failure to thrive, Cholestasis, Hepatomegaly, Hypocalcemia, Splen... ORPHA:172
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... OMIM:206100
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Lens subluxation, Ectopia pupillae, Corneal opacity, Hypotriglyceridemia ORPHA:85167
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity, Atrial septal defect, Dry skin, Umbilical hernia ORPHA:1035
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Heart murmur, Achilles tendon contracture, Left ventricular hypertrophy, EMG: myopathic abnormali... OMIM:615418
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... OMIM:267700
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ... OMIM:133180
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Coombs-positive... OMIM:601859
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Small for gestational age, Atrial septal defect... OMIM:620135
Gaucher Disease Type 2
Flexion contracture, Cardiac arrest, Hepatomegaly, Dystonia, Splenomegaly ORPHA:77260
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegal... ORPHA:85414
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... OMIM:612926
Combined Oxidative Phosphorylation Deficiency 10
Hyperalaninemia, Pericardial effusion, Small for gestational age, Hypertrophic cardiomyopathy, Br... OMIM:614702
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Obesity ORPHA:99976
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Cockayne Syndrome Type 1
Conjunctivitis, Enamel hypoplasia, Anemia, Foot joint contracture, Scarring, Hypertension, Uveiti... ORPHA:90321
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... ORPHA:45453
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Coproporphyria, Hereditary
Splenomegaly, Jaundice, Hypertension, Hepatomegaly, Anxiety, Tachycardia OMIM:121300
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... OMIM:612924
Gitelman Syndrome
Abnormal T-wave, Chondrocalcinosis, Pericardial effusion, Hypokalemia, Prominent U wave, Low-to-n... ORPHA:358
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Hodgkin Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... OMIM:300853
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Microangiopathic hemolytic anemia, Hypertension, Increased blood urea nitrogen, Elevated ... OMIM:612925
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatosplenomegaly, Hepatic steatosis, Lipodystrophy, Genera... OMIM:612526
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Leukocytosis OMIM:611762
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Failure to thrive, Hepatomegaly, Hypertriglyceridemia, Splen... OMIM:614480
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Death in infancy OMIM:614876
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hyperammonemia, Ventr... OMIM:600649
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Galactosemia Iii
Hypergalactosemia, Jaundice, Failure to thrive, Hepatomegaly, Splenomegaly OMIM:230350
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Hepatomegaly, Impaired oxid... OMIM:226990
Conjunctivitis, Anemia, Brain abscess, Abnormal nasopharyngeal adenoid morphology, Cutaneous absc... ORPHA:3392
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... OMIM:618719
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis OMIM:179700
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Normochromic microcytic anemia, Dilated cardiomyopathy, Hypochr... ORPHA:66634
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Griscelli Syndrome
Leukopenia, Abnormal circulating lipid concentration, Hepatitis, Iris hypopigmentation, Jaundice,... ORPHA:381
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Cognitive impairment, Severely reduc... OMIM:300257
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Hypoplastic left heart, Aortic valve st... OMIM:615779
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Coronary Arterial Fistula
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... ORPHA:2041
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... ORPHA:563
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity, Increased adipose tissue, Hypertension ORPHA:71529
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Jaundice, Increased serum bile acid concentration, Hepatomegaly, Cholestasis,... OMIM:620010
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Ventricular ... ORPHA:860
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Follicular Lymphoma
Weight loss, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenom... ORPHA:545
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Irritability, Failure to thrive, Lymphadenopathy, Bone-marrow foam cells,... OMIM:257200
Peripheral Cone Dystrophy
Pallor OMIM:609021
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Obesity, Hernia of the abdominal wall ORPHA:3055
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Microvesicular hepatic steatosis, Decreased plasma carnitine, Congest... OMIM:212140
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Chorioretinal coloboma OMIM:616428
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Ataxia, Abnormality of the musculature of the lower limbs, Difficulty walking, Unsteady gait, Obe... ORPHA:464282
Aggressive Systemic Mastocytosis
Hypotension, Anemia, Weight loss, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopath... ORPHA:98850
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Neutropenia, Hepatitis, Lymphadenopathy, Increased ci... ORPHA:158061
Immunodeficiency 7
Hypereosinophilia, Failure to thrive, Lymphadenopathy, Autoimmune hemolytic anemia, Hepatomegaly,... OMIM:615387
Rafiq Syndrome
Flexion contracture, Cutis laxa, Ataxia, Truncal obesity, Obesity OMIM:614202
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Lymphoproliferative Syndrome 2
Uveitis, Hepatosplenomegaly, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascit... OMIM:615122
Deafness-Lymphedema-Leukemia Syndrome
Weight loss, Intracranial hemorrhage, Lymphadenopathy, Abnormal neutrophil count, Bone marrow hyp... ORPHA:3226
Wolf-Hirschhorn Syndrome
Rieger anomaly, Ventricular septal defect, Small for gestational age, Atrial septal defect, Bilia... OMIM:194190
Mcleod Syndrome
Reduced haptoglobin level, Acanthocytosis, Dilated cardiomyopathy, Elevated circulating creatine ... OMIM:300842
Dopamine Beta-Hydroxylase Deficiency
Anemia, Abnormal EKG, Syncope, Increased blood urea nitrogen, Orthostatic hypotension, Elevated c... ORPHA:230
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Acute Myelomonocytic Leukemia
Weight loss, Pallor ORPHA:517
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Immunodeficiency 91 And Hyperinflammation
Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegaly, Failure to thrive, Lymphadenopathy, Hemop... OMIM:619644
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Mulibrey Nanism
Enamel hypoplasia, Pericardial constriction, Ascites, Congestive heart failure, Myocardial fibros... OMIM:253250
Congenital Myopathy 9A
Obesity, Death in infancy, Akinesia, EMG: myopathic abnormalities OMIM:618822
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Pancytopenia, Failure to ... OMIM:616050
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Hepatomegaly, Joint contracture, Splenomegaly, Cardiomyopathy OMIM:608540
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Abnormality of iron homeostasis, Weight loss, Elevated jugular venous pressure, Elevat... ORPHA:465508
Lymphoproliferative Syndrome 3
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Arrhythmia, Gait disturbance, Truncal obesity ORPHA:2928
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... OMIM:602450
Complete Atrioventricular Septal Defect
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Thir... ORPHA:1329
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Ventricular septal defect, Small for gestational age, Large for gestational age,... ORPHA:254534
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia ORPHA:2151
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Asymmetric septal hypertrophy, Progressive neurologic deterioration, Hepatom... OMIM:252920
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Cholestatic liver disease, Decreased circulating ceruloplasmin concentration, Elevated... OMIM:616828
Primary Myelofibrosis
Anemia, Cachexia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis,... ORPHA:824
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Leigh Syndrome With Leukodystrophy
Failure to thrive, Progressive cerebellar ataxia, Ventricular septal defect, Hypertrophic cardiom... ORPHA:255241
Immunodeficiency 96
Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... OMIM:619774
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Chediak-Higashi Syndrome
Leukopenia, Anemia, Ocular albinism, Spontaneous, recurrent epistaxis, Iris hypopigmentation, Jau... OMIM:214500
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased C-peptide level, Increased circulating free fatty acid level, Hepatic necrosis, Decreas... ORPHA:71212
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Abnormal liver parenchyma morphology, Cogn... ORPHA:64743
Polycythemia Vera
Increased red blood cell mass, Cerebral ischemia, Cerebral hemorrhage, Increased hematocrit, Thro... OMIM:263300
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Sickle Cell Disease
Cholelithiasis, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Hypertension, Incre... OMIM:603903
Al Amyloidosis
Anemia, Howell-Jolly bodies, Abnormality of the liver, Reduced left ventricular ejection fraction... ORPHA:85443
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Jaundice, Portal fib... OMIM:616278
Baralle-Macken Syndrome
Obesity, Striae distensae, Inability to walk OMIM:619255
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Irritability, Pancytopenia, Hepatospleno... OMIM:603553
Glycogen Storage Disease Ii
Subarachnoid hemorrhage, Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome,... OMIM:232300
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia ORPHA:157991
Cinca Syndrome
Anemia, Abnormal granulocyte morphology, Uveitis, Abnormality of neutrophils, Lymphadenopathy, El... ORPHA:1451
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly OMIM:618982
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Immunodeficiency, Common Variable, 1
Conjunctivitis, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphade... OMIM:607594
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Myxomatous mitral valve ... OMIM:614980
Attrv30M Amyloidosis
Weight loss, Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Axenfeld-Rieger Syndrome, Type 1
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... OMIM:180500
Tangier Disease
Left ventricular hypertrophy, Myocardial infarction, Decreased HDL cholesterol concentration, Hep... OMIM:205400
Congenital Rubella Syndrome
Anemia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Jaundice, Atrial septal defect... ORPHA:290
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Ectopia pupillae, Sclerocornea, Cataract, Microcornea OMIM:615877
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Failure to thrive, Lymphadenopathy, Autoimmune hemolytic anemia, Hepatom... OMIM:618495
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutropenia, Hyperbilirubinemi... ORPHA:158057
Immunodeficiency 48
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Proteasome-Associated Autoinflammatory Syndrome 3
Conjunctivitis, Anemia, Flexion contracture, Lymphopenia, Failure to thrive, Lymphadenopathy, Lip... OMIM:617591
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Generalized lymphadenopathy, P... ORPHA:829
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... OMIM:619375
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Bacterial endocarditis, Left ventricular ou... ORPHA:3092
Alagille Syndrome
Abnormal pupil morphology, Ventricular septal defect, Hypertension, Atrial septal defect, Reduced... ORPHA:52
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Death in childhood, Ventricular septal defect OMIM:613759
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy, Mitral regurgitation, Elevated circulating C-reactive protei... OMIM:619750
Noonan Syndrome 8
Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, Left ventricular hy... OMIM:615355
Alexander Disease
Microcoria, Apathy OMIM:203450
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Macroglossia, Broad-based gait, Omphalocele, Dry skin, Increased body ... OMIM:614450
Indolent Systemic Mastocytosis
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... ORPHA:98848
Cyanosis, Transient Neonatal
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia OMIM:613977
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Abnormal heart morphology ORPHA:254525
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Pulmonary arterial hypertension, Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyo... OMIM:619051
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Failure to thrive, Lymphadenopathy, Hypoprot... OMIM:603554
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Obesity, Failure to thrive in infancy OMIM:613670
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Wrist flexion contracture, Flexion contracture, Shuffling gait, Spastic gait, Choreoathetosis, At... OMIM:300055
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Hepatic fibrosis, Anemia, Dilated cardiomyopathy, Congestive heart failure, Elevat... OMIM:615895
Short Syndrome
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Weight loss, Hypoplasia of the ir... ORPHA:3163
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Cirrhosis, Jaundice, Acholic stools, Abnormality of the lymphatic system, Bilia... ORPHA:1414
Osteopetrosis, Autosomal Recessive 5
Anemia, Mydriasis, Hyperbilirubinemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenome... OMIM:259720
Felty Syndrome
Anemia, Weight loss, Cellulitis, Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Hepa... ORPHA:47612
Cln3 Disease
Aggressive behavior, Memory impairment, T-wave inversion, Left ventricular hypertrophy, Dementia,... ORPHA:228346
Coenzyme Q10 Deficiency, Primary, 7
Patent ductus arteriosus, Ventricular septal defect, Hypoplastic left heart, Hypertrophic cardiom... OMIM:616276
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Bardet-Biedl Syndrome 8
Situs inversus totalis, Obesity OMIM:615985
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatome... OMIM:300635
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG, Developmental cataract, Hepatosplenomegaly, Inguinal hernia, Catara... ORPHA:93400
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperalaninemia, Failure to thrive, Increased serum pyruvate, Hyperprolinemia, Macrocytic anemia,... OMIM:619046
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... OMIM:615373
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Failure to thrive, Ab... ORPHA:277
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis OMIM:269600
Gray Platelet Syndrome
Epistaxis, Thrombocytopenia, Splenomegaly ORPHA:721
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen... OMIM:271500
Medium Chain Acyl-Coa Dehydrogenase Deficiency