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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
enlarged heart Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
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 exploration in new environment Ppp2r5cem1(IMPC)Mbp HOM Early adult 2.14×10-05
enlarged spleen Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
increased blood urea nitrogen level Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
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
preweaning lethality, incomplete penetrance Ppp2r5cem1(IMPC)Mbp HOM   Early adult 0.00
shortened ST segment Ppp2r5cem1(IMPC)Mbp HOM Early adult 2.05×10-06
abnormal placement of pupils Ppp2r5cem1(IMPC)Mbp HOM Early adult 4.40×10-11
decreased lean body mass Ppp2r5cem1(IMPC)Mbp HOM Early adult 1.21×10-05
increased circulating alkaline phosphatase level Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
shortened QT interval Ppp2r5cem1(IMPC)Mbp HOM Early adult 9.38×10-05
abnormal spleen morphology Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
irregularly shaped pupil Ppp2r5cem1(IMPC)Mbp HOM Early adult 7.54×10-15
increased mean corpuscular hemoglobin Ppp2r5cem1(IMPC)Mbp HOM Early adult 3.56×10-05
increased neutrophil cell number Ppp2r5cem1(IMPC)Mbp HOM Early adult 5.56×10-05
decreased grip strength Ppp2r5cem1(IMPC)Mbp HOM Early adult 1.68×10-15
increased mean corpuscular volume Ppp2r5cem1(IMPC)Mbp HOM Early adult 2.75×10-10

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Viewing: all phenotypes

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
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Pigment gallstones, Cholestasis, Hypochromic ane... ORPHA:232
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... ORPHA:3202
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... ORPHA:75565
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Gait disturbance, Pallor, Failure to thrive ORPHA:79283
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... OMIM:616689
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Pulmonary arterial hypertension, Small for gestational age, Extramedullary hematopoiesis, Ventric... OMIM:617021
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... OMIM:205950
Acquired Aneurysmal Subarachnoid Hemorrhage
Prolonged QTc interval, Leukocytosis, Cerebral hemorrhage, Left ventricular hypertrophy, Syncope,... ORPHA:90065
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Dementia, Hepatomegaly, Splenomegaly ORPHA:2274
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Bone marrow hypocellularity, Neutropenia, Increased mean corpuscular volume, Thrombocytop... OMIM:619041
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Diamond-Blackfan Anemia 6
Mitral regurgitation, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Persi... OMIM:612561
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Cardiomyocyte hypertrophy, Ventricular tachycardia, Arrhythmia, Palpitation... ORPHA:263297
Intrinsic Factor Deficiency
Reduced haptoglobin level, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased m... OMIM:261000
Acute Peripheral Arterial Occlusion
Paresthesia, Absent ankle pulse, Abnormality of venous physiology, Supraventricular tachycardia, ... ORPHA:90064
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Hemolytic anemia, Aplastic anemia, Heart bl... ORPHA:398124
Overhydrated Hereditary Stomatocytosis
Jaundice, Reticulocytosis, Hemolytic anemia, Pulmonary embolism, Hepatomegaly, Prolonged neonatal... OMIM:185000
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Familial Short Qt Syndrome
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... ORPHA:51083
Anterior Segment Dysgenesis 3
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... OMIM:601631
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... OMIM:616860
Cirrhotic Cardiomyopathy
Conjunctival icterus, Reduced left ventricular ejection fraction, Abnormal B-type natriuretic pep... ORPHA:57777
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Paresthesia, Atrial septal defect, Ventricular septal defect, Congestive heart fa... ORPHA:49827
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Failure to thrive, Hypertrophic cardiomyopathy, Generalized amyotrophy, Lethargy, Pallor, Ragged-... OMIM:613561
Drug-Induced Lupus Erythematosus
Prolonged QTc interval, Anemia, Increased blood urea nitrogen, Elevated circulating creatine kina... ORPHA:231111
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Lymphad... OMIM:603552
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Weight loss ORPHA:52416
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis, Cognitive impairment, Hypertension ORPHA:1885
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Elevated circulating creatine kinase concentration, R... OMIM:604765
Brugada Syndrome 3
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... OMIM:611875
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Short Qt Syndrome 1
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... OMIM:609620
Brugada Syndrome
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... ORPHA:130
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia OMIM:312500
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Abnormal B-type natriuretic peptide concentration, Angina pectoris, Brady... ORPHA:66529
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Hypotension, Right atrial enlargement, Abnormal ST se... OMIM:612422
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia ORPHA:46532
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Glycogen Storage Disease Of Heart, Lethal Congenital
Cataract, ST segment elevation, Prolonged QRS complex, Hypotension, Increased myocardial glycogen... OMIM:261740
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Thrombocytopenia, Epis... OMIM:616216
Glycogen Storage Disease Xv
ST segment elevation, Cardiomyocyte hypertrophy, Ventricular fibrillation, Paroxysmal ventricular... OMIM:613507
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Gait disturbance, Obesity ORPHA:436141
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... ORPHA:1055
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... OMIM:615916
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Absent muscle fiber emerin, Achilles tendon contracture, Supraventricular arrhythmia, Rimmed vacu... ORPHA:98855
Anemia, Hypochromic Microcytic, With Iron Overload 2
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hepatomegaly, Hypochr... OMIM:615234
Short Qt Syndrome 2
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... OMIM:609621
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Short Qt Syndrome 7
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation OMIM:620231
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Increased blood urea nitrogen, Failure to thrive, Pancytopenia, Hepatic steatosis, ... OMIM:617872
Trimethylaminuria
Anemia, Hypertension, Tachycardia, Splenomegaly, Neutropenia OMIM:602079
Bone Marrow Failure Syndrome 6
Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Lymphopenia, Increased mean cor... OMIM:618849
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Pulmonic stenosis, Atrial septal defect, Contracture of the proximal interphala... OMIM:618223
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... OMIM:225200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Myofibrillar Myopathy 10
Prolonged QTc interval, Left ventricular hypertrophy, Knee flexion contracture, Flexion contractu... OMIM:619040
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia OMIM:612563
Spinal Muscular Atrophy, Type I
Death in childhood, Proximal muscle weakness in lower limbs, Proximal amyotrophy, Spinal muscular... OMIM:253300
Emery-Dreifuss Muscular Dystrophy
Absent muscle fiber emerin, Achilles tendon contracture, Supraventricular arrhythmia, Rimmed vacu... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Absent muscle fiber emerin, Achilles tendon contracture, Supraventricular arrhythmia, Rimmed vacu... ORPHA:98853
Posterior Polymorphous Corneal Dystrophy
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... ORPHA:98973
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, Choreoathetosis, Irritability, Trem... OMIM:612126
Methylcobalamin Deficiency Type Cble
Abnormality of the liver, Hypertension, Macrocytic anemia, Failure to thrive, Increased mean corp... ORPHA:2169
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor, Ataxia ORPHA:71518
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Congenital Toxoplasmosis
Jaundice, Anemia, Cognitive impairment, Failure to thrive in infancy, Hepatomegaly, Thrombocytope... ORPHA:858
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Failure to thrive, Double outl... OMIM:601127
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased total iron binding capacity, Inc... ORPHA:98870
Corneal Dystrophy, Posterior Polymorphous, 3
Ectopia pupillae, Inguinal hernia, Corneal guttata, Corneal dystrophy, Keratoconus OMIM:609141
Ethanolaminosis
Cardiomegaly OMIM:227150
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy, Tachycar... ORPHA:276556
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus... OMIM:615996
X-Linked Emery-Dreifuss Muscular Dystrophy
Absent muscle fiber emerin, Achilles tendon contracture, Supraventricular arrhythmia, Rimmed vacu... ORPHA:98863
Attrv122I Amyloidosis
Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Anemia, A... ORPHA:85451
Cyclic Vomiting Syndrome
Cardiomyopathy, Lethargy, Pallor, Ataxia OMIM:500007
Alpha-Thalassemia
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Cognitive impairment, Microcytic anemia,... ORPHA:846
Majeed Syndrome
Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequate production, Microcyti... OMIM:609628
Distal Deletion 6P
Ectopia pupillae, Atrial septal defect, Abnormal anterior chamber morphology, Self-injurious beha... ORPHA:96125
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Immunodeficiency 104
Failure to thrive secondary to recurrent infections, Hepatomegaly, Lymphadenopathy, Splenomegaly,... OMIM:608971
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Proximal muscle weakness in lower limbs, Fatty replacement of skeletal muscle, Distal lo... ORPHA:171706
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Abnormal cardiac septum morphology, Thrombocytopenia, Anemia ORPHA:3319
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... OMIM:601494
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Dominant Beta-Thalassemia
Chronic hepatitis, Hepatosplenomegaly, High-output congestive heart failure, Decreased mean corpu... ORPHA:231226
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Gait disturbance, Unsteady gait, Left ventricular hypertrophy, Hypomimic face,... ORPHA:93952
Myopathic Ehlers-Danlos Syndrome
Decreased muscle mass, Weakness of facial musculature, Knee flexion contracture, Tip-toe gait, Fa... ORPHA:536516
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Ataxia, Waddling gait, Broad-based gait, Obesity OMIM:616756
Eisenmenger Syndrome
Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Bacterial endocarditis,... ORPHA:97214
Sandhoff Disease
Motor deterioration, Hepatomegaly, Failure to thrive, Congestive heart failure, Progressive psych... ORPHA:796
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Irritability, Hepatitis, Thrombocyt... ORPHA:848
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... OMIM:300946
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy, Tachycar... ORPHA:276575
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Megaloblastic anemia, Hepatomegaly, Increased mean corpuscular volume, Thrombocytopenia... OMIM:613839
Hemochromatosis, Type 2B
Elevated transferrin saturation, Anemia, Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Cirrhosi... OMIM:613313
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Beta-Thalassemia Major
Hepatomegaly, Hepatosplenomegaly, High-output congestive heart failure, Decreased mean corpuscula... ORPHA:231214
Brugada Syndrome 9
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope OMIM:616399
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Bone-marrow foam cells, Anemia, Hepatomegaly, Sea-blue h... OMIM:607616
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Hepatocellular carcinoma, Pulmonary arterial hypertension, Jaundice, Leukocyt... ORPHA:231222
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy, Tachycar... ORPHA:276580
Refractory Anemia With Excess Blasts
Retinal hemorrhage, Leukocytosis, Abnormal mean corpuscular volume, Palpitations, Bone marrow hyp... ORPHA:86839
Bone Marrow Failure Syndrome 3
Exocrine pancreatic insufficiency, Aplastic anemia, Anemia, Astigmatism, Bone marrow hypocellular... OMIM:617052
Rheumatic Fever
Myocarditis, Aplasia/Hypoplasia of the abdominal wall musculature, Erythema, Gait disturbance, En... ORPHA:3099
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
Iridocorneal Endothelial Syndrome
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... ORPHA:64734
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Atrial septal defect, Sudden cardiac death, Failure to thrive, Cong... OMIM:610198
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Atrial septal defect, Hypoplasia of the iris, Posterior synechiae of the anteri... OMIM:602482
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias OMIM:620044
Shwachman-Diamond Syndrome
Hepatomegaly, Macrocytic anemia, Abnormal heart morphology, Acute myeloid leukemia, Pancreatic hy... ORPHA:811
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Impaired pain sensation, Distal sensory impairment, Unsteady gait, Ataxia, Loss of ambulation, Fo... OMIM:618124
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Lymphadenop... OMIM:613101
Narcolepsy Type 1
Syncope, Obesity ORPHA:2073
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Failure to... OMIM:617514
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia, Elevated circulating creatine kinase concentration OMIM:300376
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Abnormal heart morphology, Persistent pupillary membrane, Corneal opacity, Aplasia/Hypo... ORPHA:1067
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine concentration... OMIM:613179
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia, Restrictive cardiomyopathy... OMIM:607685
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Failure to thrive, Pancytopenia, Thrombocytosis, Increa... OMIM:618963
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular... ORPHA:3203
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Conjugated hyperbilirubinemia, Failure to thrive, Congestiv... OMIM:269920
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... OMIM:209950
Myopathy, Tubular Aggregate, 1
Flexion contracture, Abnormal pupil morphology, Elevated circulating creatine kinase concentratio... OMIM:160565
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Hemolytic anemia, Hepatomegaly, Hypertrophic cardiomyopathy, Hepatospl... OMIM:613673
Long Qt Syndrome 13
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... OMIM:613485
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Choreoathetosis, Ventricular septal defect OMIM:614249
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... ORPHA:766
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Ataxia, Distal lower limb muscle weakness, Muscular dystrophy, Telan... ORPHA:459033
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Loeffler Endocarditis
Mitral regurgitation, Left ventricular hypertrophy, Palpitations, Aortic regurgitation, Myocardia... ORPHA:75566
Heme Oxygenase 1 Deficiency
Chemosis, Diffuse alveolar hemorrhage, Asplenia, Hemolytic anemia, Cervical lymphadenopathy, Hype... OMIM:614034
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Anemia, Choreoathetosis, Pancreatitis, Cardiomyopathy, Hepatomegaly, Failure to t... ORPHA:79312
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Camptodactyly of finger, Ventricular septal defect ORPHA:1937
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Elevated circulating creatine kina... ORPHA:26793
Timothy Syndrome
Pulmonary arterial hypertension, Ventricular tachycardia, Tetralogy of Fallot, Ventricular septal... OMIM:601005
Combined Oxidative Phosphorylation Deficiency 8
Death in childhood, Reduced left ventricular ejection fraction, Death in infancy, Failure to thri... OMIM:614096
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Optic Atrophy 1
Pallor, Ataxia OMIM:165500
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Brugada Syndrome 7
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... OMIM:613120
Parathyroid Carcinoma
Chondrocalcinosis, Hypophosphatemia, Pancreatitis, Shortened QT interval, Pancreatic adenocarcino... ORPHA:143
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Lymphadenopathy, Hypocalcemia, Splenomegaly, Ascites ORPHA:100025
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Impaired distal vibration sensation, Lower limb muscle weakness, Skeletal muscle atrophy,... OMIM:604360
Atrial Septal Defect, Ostium Secundum Type
Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Supraventri... ORPHA:99103
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Hyperbilirubinemia, Ery... OMIM:237800
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Irritability, Tremor, Thrombocytopenia, Splenomegaly, Dystonia OMIM:615010
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Reticulocytosis, Hypertension, Hyperkalemia, Increased mean corpuscula... ORPHA:90044
Scorpion Envenomation
Myocarditis, Mydriasis, Increased circulating creatine kinase MB isoform, Arrhythmia, Hypertensio... ORPHA:466677
Primary Lateral Sclerosis, Juvenile
Spastic gait, Spasticity of facial muscles, Loss of ambulation, Pallor OMIM:606353
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperleucinemia, Failure to thrive... OMIM:620085
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Anisocytosis, Leukocytosis, Reticulocytosis, Hemolytic anemia, Elliptocytosis... OMIM:618278
Castleman Disease
Generalized lymphadenopathy, Jaundice, Abdominal mass, Anemia, Decreased mean corpuscular volume,... ORPHA:160
Ventricular Septal Defect 1
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... OMIM:614429
Pseudo-Torch Syndrome 3
Leukocytosis, Cerebral hemorrhage, Anemia, Congenital thrombocytopenia, Hypertension, Lymphadenit... OMIM:618886
Hyperparathyroidism-Jaw Tumor Syndrome
Chondrocalcinosis, Hypophosphatemia, Pancreatitis, Shortened QT interval, Pancreatic adenocarcino... ORPHA:99880
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Leukopenia, Hyperuricemia, Anemia, Increased blood urea nitrogen... OMIM:613845
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
Mu-Heavy Chain Disease
Abnormal B cell count, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Weight loss ORPHA:100024
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
Cardiac arrest, Abnormal EKG, ST segment elevation, Mitral regurgitation, Hypotension, Elevated j... ORPHA:97292
Bardet-Biedl Syndrome 2
Atrial septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Obesity OMIM:615981
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Nemaline Myopathy 9
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect OMIM:615731
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Cardiomyocyte hypertrophy, Death in adolescence, Left ventricular hypertrophy, Le... OMIM:612158
Jervell And Lange-Nielsen Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval OMIM:220400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Ectopia pupillae, Limb dystonia, Polycoria, Hemolytic anemia, Cerebral hemorrhage, Astigmatism, I... OMIM:175780
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation, Increased serum pyruvate, Cognitive impairment ORPHA:94125
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hepatomegaly, Intention tremor, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Spl... OMIM:610539
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Burkitt Lymphoma
Hyperuricemia, Abnormality of the liver, Abnormal lymph node morphology, Gastrointestinal hemorrh... ORPHA:543
Griscelli Syndrome Type 2
Jaundice, Iris hypopigmentation, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Lymphadenopathy,... ORPHA:79477
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Reticulocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal jaundice, Increa... OMIM:274150
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor, Lethargy, Increased body weight ORPHA:276608
Aniridia 1
Cataract, Ectopia pupillae, Ectopia lentis, Chorioretinal hypopigmentation, Corneal erosion, Ante... OMIM:106210
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Decreased proportion of memory B cells, Decreased proportion of class-switche... OMIM:615559
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... OMIM:615513
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Autoimmune Hypoparathyroidism
Cataract, Anxiety, Hypocalcemic seizures, Hyperphosphatemia, Conjunctivitis, Irritability, Abnorm... ORPHA:36913
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... OMIM:612840
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Angina pectoris, Lymphadenopathy, Corneal ... ORPHA:79292
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Anemia, Uveitis, Eosinophilia, Lymphadenopathy, Elevated circul... OMIM:607115
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Hyperlipoproteinemia, Splenomegaly OMIM:118830
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Enlarged kidney, Anemia, Extramedullary hematopoiesis, Hepatomegaly, Failure to thriv... OMIM:615285
Diamond-Blackfan Anemia
Small for gestational age, Leukopenia, Atrial septal defect, Pure red cell aplasia, Ventricular s... ORPHA:124
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Methylmalonic acidemia, Increased mean corpuscular volume, Hyperhomocystine... OMIM:277410
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly, Dystonia ORPHA:139406
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Hypoalbuminemia, Hemophagocytosis, Aplastic anemia, Fulminant hepatitis, Hepatomegaly... OMIM:308240
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Autoimmune thrombocytopenia, Leukemia, Hepatomegaly, Follicular hyperplasia, Pa... OMIM:614470
16Q24.3 Microdeletion Syndrome
Mitral regurgitation, Ventricular septal defect, Astigmatism, Increased mean corpuscular volume, ... ORPHA:261250
Mehmo Syndrome
Small for gestational age, Inability to walk, Difficulty walking, Gait ataxia, Obesity OMIM:300148
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Macrocytic anemia,... OMIM:612562
Hemochromatosis, Type 2A
Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosis, Increased serum iron, Congestive heart failu... OMIM:602390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Cataract, Prolonged QT interval, Elevated circulating creatine kinase concentration, Joint contra... OMIM:615351
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Long Qt Syndrome 2
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613688
Neuraminidase Deficiency
Vacuolated lymphocytes, Cataract, Inguinal hernia, Bone-marrow foam cells, Cardiomyopathy, Hepato... OMIM:256550
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Anisopoikilocytosis, Anemia, Decreased mean corpuscular volume, Decreased tra... ORPHA:300298
Sick Sinus Syndrome 2
Prolonged QTc interval, Cardiac arrest, Paroxysmal atrial fibrillation, Left ventricular hypertro... OMIM:163800
Spontaneous Periodic Hypothermia
Arrhythmia, Gait disturbance, Pallor, Ataxia ORPHA:29822
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, Failure to thrive ORPHA:1388
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly, Abnormality of the tonsils, Cornea... ORPHA:93476
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Large for gestational age, Syncope, Palpitations, Lethargy, Tachycardi... ORPHA:324575
Mast Cell Sarcoma
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Weight loss ORPHA:66661
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Ectopia pupillae, Astigmatism, Enamel hypoplasia, Scarring alopecia of scalp OMIM:618727
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly, Weight loss ORPHA:86893
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Tachycardia, Hepatomegaly, Elevated circulating creatine kinase concentration, Spl... OMIM:613327
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:309930
Myopathy, Mitochondrial, And Ataxia
Distal sensory impairment, Limb ataxia, Inability to walk, Ataxia, Difficulty walking, Distal amy... OMIM:617675
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Rhabdoid Tumor
Neoplasm of the liver, Anemia, Hypertension, Irritability, Thrombocytopenia, Lymphadenopathy, Int... ORPHA:69077
Schnitzler Syndrome
Vasculitis, Leukocytosis, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:37748
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Hepatomegaly, Congestive heart failure, Pericarditis, Splenomegaly ORPHA:163596
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Cognitive impairment, Hypertension, Increased... OMIM:235400
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Congenital Heart Defects, Multiple Types, 4
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrioventricular canal de... OMIM:615779
Long Qt Syndrome 10
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... OMIM:611819
Hemochromatosis, Type 1
Hepatocellular carcinoma, Arrhythmia, Cardiomyopathy, Hepatomegaly, Cirrhosis, Telangiectasia, In... OMIM:235200
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Enlarged kidney, Hypertension, Abnormal dental enamel morphology, Incr... ORPHA:251004
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Galactose Epimerase Deficiency
Cataract, Jaundice, Hepatomegaly, Splenomegaly, Weight loss ORPHA:79238
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopat... ORPHA:507
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... OMIM:613011
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Perimembranous ve... OMIM:618782
Leber Congenital Amaurosis 14
Pallor, Falls OMIM:613341
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hypercholesterolemia, Hepatomegaly, Conjugated hyperbilirubinemia, Increased total bili... OMIM:619868
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive OMIM:617585
Mesoaxial Hexadactyly And Cardiac Malformation
Torticollis, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus ar... OMIM:249670
Multiple Endocrine Neoplasia Type 1
Thymoma, Neoplasm of the pancreas, Hypertension, Insulinoma, Shortened QT interval, Melena, Hemat... ORPHA:652
Diamond-Blackfan Anemia 1
Atrial septal defect, Ventricular septal defect, Persistence of hemoglobin F, Reticulocytopenia, ... OMIM:105650
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension, Obesity OMIM:608320
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal mitral valve morphology, Death in infan... ORPHA:1354
Hec Syndrome
Arrhythmia, Abnormal pupil morphology, Cardiomyopathy, Developmental cataract, Endocardial fibroe... ORPHA:2119
Proteus-Like Syndrome
Cataract, Shagreen patch, Abnormal pupil morphology, Subcutaneous lipoma, Thymus hyperplasia, Lim... ORPHA:2969
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Abnormal lymph node morphology, Elevated circulating C-reactive protein co... ORPHA:54251
Nathalie Syndrome
Cataract, Abnormal EKG OMIM:255990
Atrial Fibrillation, Familial, 9
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... OMIM:613980
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... OMIM:618534
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Torsade de pointes, Syncope, Arrhythmia, Ventricular fibrillation, Iron d... ORPHA:90647
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity, Lymphopenia, Cirrhosis, Increas... OMIM:127550
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ectopia pupillae, Hypotriglyceridemia, Lens subluxation, Corneal opacity ORPHA:85167
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Cognitive impairment, Hepatomegaly, Failure to thrive, Hypocalcemia, Splen... ORPHA:172
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... OMIM:601493
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Anemia, Atrial septal defect, Perimembranous ventricular septal defect... OMIM:620135
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... OMIM:614021
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia, Dry skin, Obesity ORPHA:1035
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Jaundice, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis,... OMIM:267700
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, Skeletal muscle atrophy, EMG: myopathic abnormalities, Achilles ten... OMIM:615418
Gaucher Disease Type 2
Cardiac arrest, Hepatomegaly, Flexion contracture, Splenomegaly, Dystonia ORPHA:77260
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... OMIM:212050
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Obesity ORPHA:99976
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Vasculitis, Increased proportion of HLA DR+... OMIM:601859
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Hyperammonemia, Hyperalaninemia, Failure to thrive, Pericardial effusi... OMIM:614702
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Decreased mean corpuscular volume, Hypochromia, Increased serum iron, Erythroid hyperplas... OMIM:206100
Cockayne Syndrome Type 1
Cataract, Anemia, Uveitis, Hypertension, Hepatomegaly, Enamel hypoplasia, Increased blood urea ni... ORPHA:90321
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Hypertension, Increased blood urea nitrogen, Thrombocy... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Hypertension, Increased blood urea nitrogen, Thrombocy... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Hypertension, Increased blood urea nitrogen, Thrombocy... OMIM:612926
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Anterior uv... ORPHA:85414
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Wolff-Parkinson-White syndrome, L... ORPHA:45453
Long Qt Syndrome 6
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613693
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Immunodeficiency 76
Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:619164
Coproporphyria, Hereditary
Jaundice, Anxiety, Hypertension, Hepatomegaly, Tachycardia, Splenomegaly OMIM:121300
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Lymphadenopath... OMIM:300853
Cardiomyopathy, Dilated, 2G
Right bundle branch block, Mitral regurgitation, Monomorphic ventricular tachycardia, Left atrial... OMIM:619897
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Gitelman Syndrome
Raynaud phenomenon, Abnormal T-wave, Chondrocalcinosis, Neoplasm of the pancreas, Syncope, Palpit... ORPHA:358
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Hypertension, Increased blood urea nitrogen, Thrombocy... OMIM:612924
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly OMIM:611762
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly, Weight loss ORPHA:98293
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Hypertension, Increased blood urea nitrogen, Thrombocy... OMIM:612925
Galactosemia Iii
Jaundice, Hypergalactosemia, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:230350
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hepatic steatosis, Splen... OMIM:614480
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Peripartum Cardiomyopathy
Myocarditis, Reduced left ventricular ejection fraction, Abnormal atrioventricular valve morpholo... ORPHA:563
Long Qt Syndrome 14
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... OMIM:616247
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Lipodystrophy, Generalized lipodystrophy, Hepatomegaly, Splenomegaly, Hypertr... OMIM:612526
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Ventricular tachycardia, Hyperammonemia, Hepatomegaly, Elevated circulating creatine kinase conce... OMIM:600649
Cardiomyopathy, Familial Hypertrophic, 26
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Left atrial enlarge... OMIM:617047
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Simpson-Golabi-Behmel Syndrome, Type 2
Inguinal hernia, Obesity OMIM:300209
Tularemia
Leukocytosis, Cervical lymphadenopathy, Anemia, Abnormal nasopharyngeal adenoid morphology, Conju... ORPHA:3392
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Reduced left ventricular ejection fraction, Hepatomegaly, Ventricular hypertrophy... OMIM:115197
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Ventricular septal defect OMIM:614876
Griscelli Syndrome
Jaundice, Abnormal circulating lipid concentration, Iris hypopigmentation, Leukopenia, Abnormalit... ORPHA:381
Atrial Septal Defect 2
Dextrocardia, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect, Atrial septal d... OMIM:607941
Dilated Cardiomyopathy With Ataxia
Elevated circulating glutaric acid concentration, Muscular ventricular septal defect, Normochromi... ORPHA:66634
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Hepatomegaly, Eosinophilia, Failure to thrive, Thrombocytopenia... OMIM:226990
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial septal defect, B... OMIM:618719
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Increased... OMIM:620010
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Vasculitis, Increased proportion of HLA DR+... OMIM:603909
Danon Disease
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely reduced left ventricul... OMIM:300257
Atrial Fibrillation, Familial, 3
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... OMIM:607554
Coronary Arterial Fistula
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Atr... ORPHA:2041
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Hypertension, Increased adipose tissue, Obesity ORPHA:71529
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Atrial septal defect, Ventricular septal defect, Left ventri... ORPHA:860
Follicular Lymphoma
Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Weight... ORPHA:545
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Abnormality of the musculature of the lower limbs, Unsteady gait, Difficulty walking, Ataxia, Wad... ORPHA:464282
Carnitine Deficiency, Systemic Primary
Mitral regurgitation, Hyperammonemia, Decreased carnitine level in liver, Cardiomyopathy, Hepatom... OMIM:212140
Atrial Fibrillation, Familial, 14
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval OMIM:615378
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue histiocytosis, Microc... OMIM:257200
Peripheral Cone Dystrophy
Pallor OMIM:609021
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Leukocytosis, Hypotension, Anemia, Leukemia, Abnormal mast cell morphology, N... ORPHA:98850
Long Qt Syndrome 1
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... OMIM:192500
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Rafiq Syndrome
Ataxia, Truncal obesity, Cutis laxa, Flexion contracture, Obesity OMIM:614202
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Iris coloboma, Microcoria OMIM:616428
Immunodeficiency 105
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... OMIM:619924
Long Qt Syndrome 15
Prolonged QTc interval, Cardiac arrest, Left ventricular noncompaction, Syncope, Ventricular bige... OMIM:616249
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Hepatomegaly, Hepatitis, Abnormal natural killer cell count, Hypertrigl... ORPHA:158061
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Intracranial hemorrhage, ... ORPHA:3226
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Failure to thrive, Lymphadenopathy,... OMIM:615387
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Anemia, Syncope, Increased blood urea nitrogen, Orthostatic syncope, Orthostatic hy... ORPHA:230
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... OMIM:615631
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Uveitis, Hepatomegaly, Lymphadenopathy, Pa... OMIM:615122
Acute Myelomonocytic Leukemia
Pallor, Weight loss ORPHA:517
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Hemophagocytosis, Monocytosis, Hepatomegaly, Failure to thrive, Thrombocytope... OMIM:619644
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Hepatomegaly, Flexion contracture, Splenomegaly, Joint contracture OMIM:608540
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... OMIM:602450
Mulibrey Nanism
Iris coloboma, Astigmatism, Hepatomegaly, Enamel hypoplasia, Corneal dystrophy, Congestive heart ... OMIM:253250
Congenital Myopathy 9A
Akinesia, Death in infancy, EMG: myopathic abnormalities, Obesity OMIM:618822
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Small for gestational age, Ventricular septal defect, Umbilical hernia, Overgrow... ORPHA:254534
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Baralle-Macken Syndrome
Inability to walk, Striae distensae, Obesity OMIM:619255
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Left atrial enlargement, Left ventricular hypertrophy, Reduced left ventricular e... OMIM:608751
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Anemia, Reduced natural killer cell count, Failure to thrive, Thromb... OMIM:616050
Wolf-Hirschhorn Syndrome
Biliary tract abnormality, Ectopia pupillae, Small for gestational age, Iris coloboma, Atrial sep... OMIM:194190
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia, Camptodactyly of finger, Gait disturbance, Truncal obesity ORPHA:2928
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Congenital Heart Defects, Multiple Types, 5
Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Bicuspid aortic valve, Doub... OMIM:617912
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Increased LDL cholesterol concentration, Cholestatic liver disease, Hyperchol... OMIM:616828
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatocellular carcinoma, Elevated transferrin saturation, Apathy, Arrhythmia, Cardiomyopathy, El... ORPHA:465508
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Neonatal death, Congenital diaphragmatic hernia OMIM:615524
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Progressive neurologic deterioration, Hepatomegaly, Cardiomegaly, ... OMIM:252920
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Cachexia, P... ORPHA:824
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Abnormal pupil morphology, Prolonged QT interval ORPHA:2151
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age, Obesity OMIM:240900
Leigh Syndrome With Leukodystrophy
Ventricular septal defect, Hypertrophic cardiomyopathy, Progressive cerebellar ataxia, Failure to... ORPHA:255241
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular canal defect, Abnormal EKG... ORPHA:1329
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Abnormal circulating acetylcarnitine concentration, Increased C-peptide level, Fa... ORPHA:71212
Chediak-Higashi Syndrome
Giant neutrophil granules, Jaundice, Iris hypopigmentation, Leukopenia, Hemophagocytosis, Anemia,... OMIM:214500
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... ORPHA:64743
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Lymphocytosis OMIM:606445
Mcleod Syndrome
Reduced haptoglobin level, Cardiomyopathy, Anxiety, Hepatomegaly, Acanthocytosis, Splenomegaly, E... OMIM:300842
Long Qt Syndrome 11
Prolonged QTc interval, Syncope OMIM:611820
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Hyperbilirubinemia, Portal hypertensio... OMIM:616278
Al Amyloidosis
Abnormal EKG, Reduced left ventricular ejection fraction, Abnormality of the liver, Anemia, Abnor... ORPHA:85443
Polycythemia Vera
Leukocytosis, Cerebral hemorrhage, Increased red blood cell mass, Increased hemoglobin, Gastroint... OMIM:263300
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Hypoproteinemia, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly... OMIM:603553
Glycogen Storage Disease Ii
Subarachnoid hemorrhage, Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulat... OMIM:232300
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abscess, Neutropenia, Lymphadenopathy, B lymphocytopenia, Splenome... OMIM:150550
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Increased B cell count OMIM:618982
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Immunodeficiency 96
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Conjunctival tela... OMIM:619774
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... ORPHA:45452
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, Ectopia pupillae, Microcornea OMIM:615877
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Cinca Syndrome
Leukocytosis, Abnormal granulocyte morphology, Anemia, Abnormality of neutrophils, Uveitis, Hepat... ORPHA:1451
Attrv30M Amyloidosis
Arrhythmia, Cardiomyopathy, Atrioventricular block, Cardiomegaly, Weight loss ORPHA:85447
Sickle Cell Disease
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hypertension, Hepatom... OMIM:603903
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Ataxia, Choreoathetosis, Bradykinesia, Wrist flexion contracture, Flexion contractu... OMIM:300055
Congenital Heart Defects, Multiple Types, 2
Ventricular septal defect, Tetralogy of Fallot, Left ventricular outflow tract obstruction, Subva... OMIM:614980
Congenital Rubella Syndrome
Cataract, Jaundice, Atrial septal defect, Ventricular septal defect, Anemia, Hepatomegaly, Thromb... ORPHA:290
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... OMIM:615441
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Left ventricular hypertrophy, Elevated ci... OMIM:205400
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Abnormal heart morphology, Obesity ORPHA:254525
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hepatocellular carcinoma, Hemophagocytosis, Anemia, Acute lymphoblastic leuke... ORPHA:158057
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Failure to thrive, Lymphadeno... OMIM:618495
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly, Failure to thrive OMIM:269840
Axenfeld-Rieger Syndrome, Type 1
Ectopia pupillae, Abnormally prominent line of Schwalbe, Megalocornea, Rieger anomaly, Hypoplasia... OMIM:180500
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Anemia, Hepatomegaly, Lymphopenia, Failure to thrive, Hypertriglyceridemia, Thromb... OMIM:617591
Adult-Onset Still Disease
Myocarditis, Generalized lymphadenopathy, Abnormal circulating lipid concentration, Leukocytosis,... ORPHA:829
Long Qt Syndrome 9
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... OMIM:611818
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Mitral regurgitation, Elevated circulating amyloid A, Microcytic anemia, Lymp... OMIM:619750
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Hepatomegaly,... OMIM:619375
Alagille Syndrome
Atrial septal defect, Ventricular septal defect, Cholestasis, Abnormal pupil morphology, Hyperten... ORPHA:52
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Death in childhood, Ventricular septal defect OMIM:613759
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Dry skin, Omphalocele, Increased body weight, Increased body mass index, Broad-base... OMIM:614450
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ... ORPHA:98848
Fixed Subaortic Stenosis
Mitral regurgitation, Systolic heart murmur, Pulmonic stenosis, Bacterial endocarditis, Ventricul... ORPHA:3092
Noonan Syndrome 8
Mitral regurgitation, Palmoplantar cutis laxa, Pulmonic stenosis, Ventricular septal defect, Atri... OMIM:615355
Alexander Disease
Apathy, Microcoria OMIM:203450
Cholestasis-Lymphedema Syndrome
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:1414
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Pulmonary arterial hypertension, Hyperammonemia, Hyperalaninemia, Tricuspid regurgitation, Ventri... OMIM:619051
Cyanosis, Transient Neonatal
Jaundice, Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly OMIM:613977
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Omenn Syndrome
Hypoplasia of the thymus, Hypoproteinemia, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosino... OMIM:603554
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Hematochezia, Leukocytosis, Anemia, Cholestasis, Cardiomyopathy, Hepatic fibrosi... OMIM:615895
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Distal arthrogryposis, Arrhythmia, Hepatomegaly, Cachexia, Elevated circulating c... ORPHA:42
Cln3 Disease
Cataract, Vacuolated lymphocytes, Left ventricular hypertrophy, Anxiety, Dementia, Memory impairm... ORPHA:228346
Congenital Sialidosis Type 2
Hepatosplenomegaly, Abnormal EKG, Cataract, Inguinal hernia, Umbilical hernia, Hepatomegaly, Abno... ORPHA:93400
Short Syndrome
Lipodystrophy, Inguinal hernia, Megalocornea, Abnormal pupil morphology, Abnormal anterior chambe... ORPHA:3163
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Hyperalaninemia, Macrocytic anemia, Failure to thrive, Hyperprolinemia, Increased... OMIM:619046
Felty Syndrome
Anemia, Bone marrow hypocellularity, Hepatomegaly, Abnormal lymphocyte morphology, Thrombocytopen... ORPHA:47612
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... OMIM:615373
Bardet-Biedl Syndrome 8
Situs inversus totalis, Obesity OMIM:615985
Osteopetrosis, Autosomal Recessive 5