Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
irregularly shaped pupil Ppp2r5cem1(IMPC)Mbp HOM Early adult 1.07×10-14
increased total body fat amount Ppp2r5cem1(IMPC)Mbp HOM Early adult 1.07×10-05
increased neutrophil cell number Ppp2r5cem1(IMPC)Mbp HOM Early adult 4.95×10-05
shortened ST segment Ppp2r5cem1(IMPC)Mbp HOM Early adult 1.99×10-06
increased heart weight Ppp2r5cem1(IMPC)Mbp HOM Early adult 3.00×10-08
increased blood urea nitrogen level Ppp2r5cem1(IMPC)Mbp HOM   Early adult 5.55×10-08
abnormal spleen morphology Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
increased circulating alkaline phosphatase level Ppp2r5cem1(IMPC)Mbp HOM   Early adult 2.35×10-06
decreased startle reflex Ppp2r5cem1(IMPC)Mbp HOM Early adult 7.17×10-10
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
preweaning lethality, incomplete penetrance Ppp2r5cem1(IMPC)Mbp HOM   Early adult 0.00
decreased grip strength Ppp2r5cem1(IMPC)Mbp HOM Early adult 1.68×10-15
increased mean corpuscular volume Ppp2r5cem1(IMPC)Mbp HOM Early adult 5.87×10-10
increased mean corpuscular hemoglobin Ppp2r5cem1(IMPC)Mbp HOM Early adult 5.52×10-05
abnormal heart morphology Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Ppp2r5cem1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Ppp2r5cem1(IMPC)Mbp HOM Early adult 1.06×10-05
abnormal placement of pupils Ppp2r5cem1(IMPC)Mbp HOM Early adult 6.09×10-11

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 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
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Obesity, Ataxia, Unsteady gait, Ventricular septal defect, Ventri... OMIM:614947
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Abnormal ST segment, Right bundle branch block, Left bundle branch bloc... ORPHA:75565
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Po... ORPHA:3202
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor, Failure to thrive, Lethargy, Gait disturbance ORPHA:79283
Dehydrated Hereditary Stomatocytosis 2
Splenomegaly, Hepatomegaly, Acanthocytosis, Jaundice, Increased mean corpuscular hemoglobin conce... OMIM:616689
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia,... OMIM:615234
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Leukocytosis, Memory impairment, Congestive heart failure, Hypercholesterol... ORPHA:90065
Tako-Tsubo Cardiomyopathy
T-wave inversion, Atrial fibrillation, Hypertension, Low-output congestive heart failure, Mitral ... ORPHA:66529
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Dementia, Splenomegaly, Hepatomegaly ORPHA:2274
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hypochromia, Anemia OMIM:205950
Diamond-Blackfan Anemia 6
Tetralogy of Fallot, Macrocytic anemia, Atrial septal defect, Persistence of hemoglobin F, Failur... OMIM:612561
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Absent ankle pulse, Impaired distal tactile sensation, Myocardial ... ORPHA:90064
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Endocardial fibrosis OMIM:235550
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Abnormality of the liver, Arrhythmia, Splenomegaly, Hepatom... ORPHA:398124
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Increased connective tissue, Flexion contracture, Muscular dystrophy, EMG: myopathic abnormalitie... OMIM:608423
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Atrial septal defect, Lethargy, Paresthesia, Ventricula... ORPHA:49827
Cirrhotic Cardiomyopathy
Right atrial enlargement, Abnormal A-type atrial natriuretic peptide level, Abnormal cardiac exer... ORPHA:57777
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:231111
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Biventricular hypertrophy, Left anterior fascicular block, Hypertrophic... OMIM:613243
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular fibrillation, Ventricular tachycardia, Arrhythmia, T-wave inver... ORPHA:263297
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Conjugated hyperb... OMIM:616860
Mantle Cell Lymphoma
Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Isolated Ectopia Lentis
Cognitive impairment, Cataract, Ectopia pupillae, Hypertension, Ectopia lentis ORPHA:1885
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Abnormality of the liver, Hypochromia OMIM:206100
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98855
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity, Gait disturbance ORPHA:436141
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Proximal amyotrophy, Death in chil... OMIM:253300
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Failure to thrive, Lymphadenopathy OMIM:618495
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnormal ST segment, Congestive ... ORPHA:1055
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98853
Myofibrillar Myopathy 10
Increased circulating troponin I concentration, Ankle flexion contracture, Knee flexion contractu... OMIM:619040
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Failure to thrive, Ventric... OMIM:601127
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98863
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Pallor, Ataxia ORPHA:71518
Axenfeld-Rieger Syndrome, Type 3
Atrial septal defect, Ectopia pupillae, Posterior embryotoxon, Hypoplasia of the iris OMIM:602482
Methylcobalamin Deficiency Type Cble
Pancytopenia, Hyperhomocystinemia, Abnormality of the liver, Neutropenia, Failure to thrive, Hype... ORPHA:2169
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Pallor, Hypertrophic cardiomyopathy, Lethargy, Palpitations, Syncope, ... ORPHA:276556
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to re... OMIM:608971
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Hyperbilirubinemia, Melena, Increased total iron binding capacity, Abnormal... ORPHA:98870
Attrv122I Amyloidosis
Cardiomegaly, Reduced ejection fraction, Arrhythmia, Congestive heart failure, Angina pectoris, I... ORPHA:85451
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia OMIM:602079
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Distal lower limb muscle weakness, Proximal muscle weakness in lower limbs, Obesity, Fatty replac... ORPHA:171706
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy, Ataxia, Lethargy OMIM:500007
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Flexion contracture, Failure to thrive, Erythroid hyperpla... OMIM:609628
Myopathic Ehlers-Danlos Syndrome
Flexion contracture, Contractures involving the joints of the feet, Elbow flexion contracture, Mu... ORPHA:536516
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Failure... OMIM:615895
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
X-Linked Intellectual Disability, Hedera Type
Dysmetria, Obesity, Inability to walk, Unsteady gait, Gait disturbance, Hypomimic face, Left vent... ORPHA:93952
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Obesity, Distal sensory impairment, Foot dorsiflexor weakness, Unsteady gait OMIM:618124
Dominant Beta-Thalassemia
Failure to thrive in infancy, Decreased mean corpuscular hemoglobin concentration, Chronic hepati... ORPHA:231226
Congenital Toxoplasmosis
Cognitive impairment, Failure to thrive in infancy, Hepatomegaly, Jaundice, Anemia, Lymphadenopat... ORPHA:858
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity, Inability to walk, Ataxia, Waddling gait, Broad-based gait OMIM:616756
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Ethanolaminosis
Cardiomegaly OMIM:227150
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Pallor, Hypertrophic cardiomyopathy, Lethargy, Palpitations, Syncope, ... ORPHA:276575
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Atrial septal defect, Double outlet right ventricle, Pulmonic stenosi... OMIM:618223
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Cognitive impairment, Splenomegaly, Jaundice, Anemia, Hemolyti... ORPHA:846
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Eisenmenger Syndrome
Right-to-left shunt, Left-to-right shunt, Increased pulmonary vascular resistance, Right bundle b... ORPHA:97214
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Abnormal cardiac septum morphology ORPHA:3319
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Beta-Thalassemia Major
Failure to thrive in infancy, Decreased mean corpuscular hemoglobin concentration, Abnormality of... ORPHA:231214
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Pallor, Hypertrophic cardiomyopathy, Lethargy, Palpitations, Syncope, ... ORPHA:276580
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Abnor... ORPHA:848
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Rheumatic Fever
Abnormal heart valve morphology, Arrhythmia, Abnormal mitral valve morphology, Erythema, Myocardi... ORPHA:3099
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Chronic neutropenia, Anemia, Aplastic anemia, Th... ORPHA:811
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Narcolepsy Type 1
Syncope, Obesity ORPHA:2073
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Normochromic microcytic anemia, Congest... OMIM:610198
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Mental deterioration, Anemia, Bone-marrow foam cells, Hypertriglyceri... OMIM:607616
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Hypocalcemia, Prolonged QT interval, Ventricular septa... OMIM:601005
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis, Dupuytren contracture OMIM:122850
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Sandhoff Disease
Congestive heart failure, Motor deterioration, Splenomegaly, Hepatomegaly, Failure to thrive, Pro... ORPHA:796
Scorpion Envenomation
Increased circulating troponin I concentration, Hypokalemia, Acute pancreatitis, Premature ventri... ORPHA:466677
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Bone marrow hypocellularity, Retinal he... ORPHA:86839
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, High-output congestiv... ORPHA:231222
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Congestive heart failure, Splenomegaly, Hepatomegal... OMIM:613313
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Choreoathetosis, Ventricular septal defect OMIM:614249
Parathyroid Carcinoma
Hypercalcemia, Infantile hypercalcemia, Lipoma, Chondrocalcinosis, Hypophosphatemia, Pancreatic a... ORPHA:143
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Truncal obesity OMIM:240900
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Loeffler Endocarditis
T-wave inversion, Abnormal cardiomyocyte morphology, Right bundle branch block, Endocardial fibro... ORPHA:75566
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypo... ORPHA:1067
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Congestive heart failure, Splenomegaly, Hepatomegaly, Conjugated hyperbil... OMIM:269920
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Abnormal pupil morphology, Flexion contracture OMIM:160565
Optic Atrophy 1
Pallor, Ataxia OMIM:165500
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating ino... OMIM:613179
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Muscular dystrophy, Obesity, Ataxia, Distal lower limb muscle weakne... ORPHA:459033
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Infantile hypercalcemia, Lipoma, Chondrocalcinosis, Hypophosphatemia, Pancreatic a... ORPHA:99880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Leukocytosis, Thr... OMIM:618963
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Anemia, Congenital Dyserythropoietic, Type Iv
Anisocytosis, Anemia, Increased RBC distribution width, Hyperbilirubinemia, Persistence of hemogl... OMIM:613673
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Ventricular septal defect, Hyperammonemia, Ventricular fibrillation, Patent foramen ovale, Arrhyt... ORPHA:26793
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Leukocytosis, Dystonia, Anisocytosis, Hepat... OMIM:618278
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Chemosis, Diffuse alveolar hemorrhage, Thrombocytos... OMIM:614034
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Failure to thrive, L... OMIM:617514
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Elevated transferrin saturation, Anis... ORPHA:766
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated circulating cre... ORPHA:97292
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Camptodactyly, Obesity, Joint contracture of the hand OMIM:264010
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Failure to thrive, Hemolytic anemia, Reticulocytosis, Decreased ... OMIM:611590
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Failure to thrive, Thrombocytopenia,... OMIM:615285
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy... OMIM:607685
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Flexion contracture, Splenomegaly, Hepatomegaly, Elevated circu... OMIM:613327
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Hypertension, Stomatocytosis, Reticulocytosis, E... ORPHA:90044
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Corneal opac... OMIM:175780
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Intellectual Developmental Disorder, Autosomal Recessive 73
Gait ataxia, Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Dystonia, Megaloblastic anemia, Methylmalonic acidemia, Increased mean corpu... OMIM:277410
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae OMIM:615877
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Catel-Manzke Syndrome
Atrial septal defect, Camptodactyly of finger, Failure to thrive, Ventricular septal defect ORPHA:1388
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Obesity, Bicuspid aortic valve OMIM:615981
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Recessive Mitochondrial Ataxia Syndrome
Cognitive impairment, ST segment elevation, Increased serum pyruvate ORPHA:94125
Blackfan-Diamond Anemia
Developmental cataract, Leukopenia, Small for gestational age, Developmental glaucoma, Atrial sep... ORPHA:124
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Astigmatism, Increased mean corpuscular volume, Ventricular septal defect... ORPHA:261250
Mehmo Syndrome
Small for gestational age, Obesity, Inability to walk, Gait ataxia, Difficulty walking OMIM:300148
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis,... OMIM:237800
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Skeletal muscle atrophy, Lower limb muscle weakness, Obesity, Thenar muscle atrophy... OMIM:604360
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Abnormal pupil morphology ORPHA:101082
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Tachycardia, Increased body weight, Lethargy ORPHA:276608
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Abnormal left ventricular function, Anxiety, Hypocalcemia, Cataract, Ventr... ORPHA:36913
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Bone marrow hypocellularity, Granulocytopenia, Co... ORPHA:75564
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Chorioretinal hypopigmentation, ... OMIM:106210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Primary Lateral Sclerosis, Juvenile
Pallor, Spasticity of facial muscles, Spastic gait OMIM:606353
Diamond-Blackfan Anemia 7
Tetralogy of Fallot, Neutropenia, Increased mean corpuscular volume, Ventricular septal defect, S... OMIM:612562
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy, Weight loss ORPHA:100024
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Castleman Disease
Abdominal mass, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentratio... ORPHA:160
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Splenomegaly, Hepatomegaly, Anemia, Hypocholesterolemia, Hypersplenism, Thrombo... OMIM:610539
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart OMIM:601348
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Failure to thrive, Cardiomyopathy, Pan... ORPHA:79312
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Autoimmu... OMIM:615559
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Lymphadenitis, Leukocytosis, Anemia, Hypertension, ... OMIM:618886
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Retinitis Pigmentosa 42
Pallor OMIM:612943
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Myo... OMIM:274150
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Immunodeficiency 48
Failure to thrive, Splenomegaly, Hepatomegaly OMIM:269840
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Hepatomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Vent... ORPHA:1354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Elevated circulating creatine kinase concentration, Cataract, Prolonged QT interval, Flexion cont... OMIM:615351
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Tor... OMIM:249670
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Burkitt Lymphoma
Abnormality of the liver, Gastrointestinal hemorrhage, Abnormality of the pancreas, Decreased pro... ORPHA:543
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Pallor, Small for gestational age, Lethargy, Palpitations, Syncope, Ta... ORPHA:324575
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Hepatosplenomegaly, Decreased mean corpuscular volu... ORPHA:300298
Spontaneous Periodic Hypothermia
Pallor, Ataxia, Arrhythmia, Gait disturbance ORPHA:29822
Griscelli Syndrome Type 2
Pancytopenia, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia... ORPHA:79477
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, Cataract, Astigmatism, Scarring alopecia of scalp, Ectopia pupillae OMIM:618727
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Cinca Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Uveitis, Elevated circulating C-reactive protein ... OMIM:607115
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Obesity OMIM:309585
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypercalcemia, Increased blood urea nitrogen, Obesity, Abnormal dental enamel mo... ORPHA:251004
Beta-Mercaptolactate Cysteine Disulfiduria
Atrial septal defect, Umbilical hernia, Obesity, Dry skin ORPHA:1035
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Splenomegaly, Recurrent pancreatitis OMIM:118830
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Dilated cardiomyopathy, Arrhythmia, Congestive hear... OMIM:602390
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Multiple Endocrine Neoplasia Type 1
Multiple lipomas, Hypercalcemia, Insulinoma, Hematemesis, Hypertension, Melena, Thymoma, Shortene... ORPHA:652
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Myopathy, Mitochondrial, And Ataxia
Multiple lipomas, Dysmetria, Increased variability in muscle fiber diameter, Inability to walk, A... OMIM:617675
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Neuraminidase Deficiency
Vacuolated lymphocytes, Cataract, Splenomegaly, Hepatomegaly, Inguinal hernia, Bone-marrow foam c... OMIM:256550
Gitelman Syndrome
Prolonged PR interval, Abnormal T-wave, Hypokalemia, Ventricular fibrillation, Hypocalcemia, ST s... ORPHA:358
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Atrial Standstill
Atrial standstill, Left ventricular noncompaction, Flexion contracture, Ventricular tachycardia, ... ORPHA:1344
Retinitis Pigmentosa 60
Pallor OMIM:613983
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Arrhythmia, Congestive heart failure, Telangiectasi... OMIM:235200
Immunodeficiency 14A, Autosomal Dominant
Cellulitis, T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switc... OMIM:615513
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Hernia, Corneal opacity, Splenomegaly, Hepatomegaly, Cardiomyopa... ORPHA:93476
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Cognitive impairment, Hyperlipidemia, Elevated circulating creatinine concentrati... OMIM:235400
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Skeletal muscle atrophy, Ragged-red muscle fibers, Obesity, EMG: myo... OMIM:615418
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:86893
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Vasculitis, Lymphadenopathy ORPHA:37748
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Rhabdoid Tumor
Hypercalcemia, Neoplasm of the liver, Anemia, Irritability, Hypertension, Lymphadenopathy, Thromb... ORPHA:69077
Nathalie Syndrome
Abnormal EKG, Cataract OMIM:255990
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Corneal opacity, Ectopia pupillae, Hypotriglyceridemia, Lens subluxation ORPHA:85167
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Splenomegaly, Hepatomegaly ORPHA:139406
Retinitis Pigmentosa 81
Pallor OMIM:617871
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Leber Congenital Amaurosis 14
Pallor, Falls OMIM:613341
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Bradycardia, Perimembranous ventricular s... OMIM:618782
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Weight loss ORPHA:66661
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Ventricular septal defect OMIM:614876
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Hypoplastic left heart, Ventricular septal defect, Atrioventricular canal de... OMIM:615779
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune hemolytic anemia, Autoimmune thrombocytope... OMIM:618534
Fish-Eye Disease
Corneal opacity, Splenomegaly, Hepatomegaly, Lymphadenopathy, Angina pectoris, Decreased HDL chol... ORPHA:79292
Galactose Epimerase Deficiency
Cataract, Splenomegaly, Hepatomegaly, Jaundice, Weight loss ORPHA:79238
Carcinoma Of Esophagus
Obesity, Weight loss ORPHA:70482
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Hepatomegaly, Anemia, Pericarditis, Abnormal hemoglobin ORPHA:163596
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Combined Oxidative Phosphorylation Deficiency 33
Astigmatism, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Ca... OMIM:617713
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Fail... OMIM:603554
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Anemia, Hyper... ORPHA:563
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Neutrophilia, Elevated circulating C-reactive protein concentration,... ORPHA:54251
Proteus-Like Syndrome
Subcutaneous lipoma, Shagreen patch, Heterochromia iridis, Cataract, Splenomegaly, Thymus hyperpl... ORPHA:2969
Bardet-Biedl Syndrome 5
Obesity OMIM:615983
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Ataxia, Obesity, Inability to walk, Unsteady gait OMIM:618443
Syndromic X-Linked Intellectual Disability 7
Obesity ORPHA:85274
Optic Atrophy 9
Pallor OMIM:616289
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Mental Retardation, X-Linked 91
Obesity OMIM:300577
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Action tremor, Dystonia, Normochromic m... ORPHA:66634
Progressive Familial Intrahepatic Cholestasis
Cognitive impairment, Cholestasis, Hypocalcemia, Splenomegaly, Hepatomegaly, Jaundice, Failure to... ORPHA:172
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
Lymphoproliferative Syndrome 1
Pancytopenia, Increased circulating ferritin concentration, Leukopenia, Autoimmune hemolytic anem... OMIM:613011
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Cockayne Syndrome Type 1
Uveitis, Contractures involving the joints of the feet, Enamel hypoplasia, Increased blood urea n... ORPHA:90321
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Enamel hypoplasia, Anxiety, Hypocalcemia, Cataract, Laryngeal dystonia, Pr... ORPHA:94089
Gaucher Disease Type 2
Flexion contracture, Dystonia, Cardiac arrest, Splenomegaly, Hepatomegaly ORPHA:77260
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hypertension, Increased adipose tissue, Childhood-onset truncal obesity ORPHA:71529
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Truncal obesity OMIM:618160
Hec Syndrome
Developmental cataract, Arrhythmia, Endocardial fibroelastosis, Abnormal pupil morphology, Cardio... ORPHA:2119
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Coproporphyria, Hereditary
Anxiety, Splenomegaly, Hepatomegaly, Jaundice, Hypertension, Tachycardia OMIM:121300
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopath... ORPHA:85414
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Peripheral Cone Dystrophy
Pallor OMIM:609021
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenom... OMIM:612526
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Hypertensio... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Hypertensio... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Hypertensio... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Hypertensio... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Hypertensio... OMIM:612926
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:98293
Galactosemia Iii
Hypergalactosemia, Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive OMIM:230350
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Small for gestational age, Diastasis recti, Omphalocele, Abnormal hear... ORPHA:254534
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Coronary Arterial Fistula
Right ventricular dilatation, Continuous heart murmur, Elevated jugular venous pressure, Patent f... ORPHA:2041
Immunodeficiency 7
Failure to thrive, Hypereosinophilia, Lymphadenopathy OMIM:615387
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Atrial Fibrillation, Familial, 14
Prolonged PR interval, ST segment elevation, Paroxysmal atrial fibrillation, Hypertension OMIM:615378
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hernia of the abdominal wall, Obesity ORPHA:3055
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... OMIM:614980
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Gait disturbance, Camptodactyly of finger, Arrhythmia, Truncal obesity ORPHA:2928
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper... OMIM:300853
Al Amyloidosis
Increased circulating troponin I concentration, Abnormality of the liver, Monoclonal light chain ... ORPHA:85443
Rafiq Syndrome
Flexion contracture, Obesity, Ataxia, Cutis laxa, Truncal obesity OMIM:614202
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Leigh Syndrome With Leukodystrophy
Progressive cerebellar ataxia, Failure to thrive, Hypertrophic cardiomyopathy, Ventricular septal... ORPHA:255241
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Gastrointestinal hemorrhage, Coombs-positive hemolytic anemia, Autoimmune hemolytic... OMIM:603909
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Ca... ORPHA:860
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Vasculitis, Lymphadenopa... OMIM:308240
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Splenomegaly, ... ORPHA:381
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Death in infancy, Obesity, EMG: myopathic abnormalities, Akinesia OMIM:618822
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Iron deficiency anemia, Syncope, Prolon... ORPHA:90647
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic gait, Flexion contracture, Facial hypotonia, Shuffling gait, Choreoathetosis, Obesity, Br... OMIM:300055
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Ascites, Hypertrophic cardiomyopathy, Hepatomegaly, Rig... OMIM:115197
Adenocarcinoma Of The Esophagus
Obesity, Lymphadenopathy ORPHA:99976
Immunodeficiency 61
Obesity OMIM:300310
Acute Myelomonocytic Leukemia
Pallor, Weight loss ORPHA:517
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cutaneous abscess, Cervical lymphadenop... ORPHA:3392
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly, Hyperbilirubinemia OMIM:179700
Pseudohypoparathyroidism Type 2
Hypocalcemic seizures, Hypocalcemia, Laryngeal dystonia, Prolonged QT interval, Hyperphosphatemia... ORPHA:94090
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Increased C-peptide level, Decreased plasma carnitine,... ORPHA:71212
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Elevated circulatin... ORPHA:158061
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Baralle-Macken Syndrome
Obesity, Inability to walk, Striae distensae OMIM:619255
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Reduced ejection fraction, Arrhythmia, Abnormal left ventricular funct... ORPHA:45452
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Endocardial fibroelastosis, Congestive heart failure, Hypertrophic cardiomyopa... OMIM:212140
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Hypochromic microcy... OMIM:259720
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, B lymphocytopen... OMIM:607594
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Death in childhood OMIM:613759
Wolf-Hirschhorn Syndrome
Small for gestational age, Accessory spleen, Atrial septal defect, Failure to thrive, Ectopia pup... OMIM:194190
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration OMIM:611762
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Portal hypertension, Elevated jugular venous pressu... ORPHA:465508
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Gastrointestinal hemorrhage, Por... ORPHA:98850
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Pulmonary hemorrhage, Elevated circulating C-r... OMIM:619644
Complete Atrioventricular Septal Defect
Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertension, Third heart sound,... ORPHA:1329
Aicardi-Goutieres Syndrome 7
Dystonia, Splenomegaly, Hepatomegaly, Irritability, Vasculitis, Thrombocytopenia OMIM:615846
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Portal hypertension, Leukocytosis, Thrombocytosis, Splenomegaly... ORPHA:824
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Uveitis, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphade... OMIM:615122
Mcleod Syndrome
Dilated cardiomyopathy, Dystonia, Anxiety, Splenomegaly, Hepatomegaly, Acanthocytosis, Elevated c... OMIM:300842
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Hepatomegaly, Elevated circulating creatine kina... OMIM:600649
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Elevated circulating creatinine concentration, Increased blood urea nitr... ORPHA:230
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Mulibrey Nanism
Pericardial constriction, Corneal dystrophy, Congestive heart failure, Enamel hypoplasia, Astigma... OMIM:253250
Follicular Lymphoma
Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymphadenopathy, Weight... ORPHA:545
Noonan Syndrome 8
Large for gestational age, Patent ductus arteriosus, Atrial septal defect, Palmoplantar cutis lax... OMIM:615355
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Wolff-Parkinson-White syndr... ORPHA:45453
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Adiposis Dolorosa
Painful subcutaneous lipomas, Obesity OMIM:103200
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Arthrogryposis multiplex cong... OMIM:614262
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Hepatic fibrosis OMIM:614480
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Sple... OMIM:616828
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Aggressive behavior, Asymmetric septal hypertrophy, Progressive neuro... OMIM:252920
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Patent ductus arteriosus, Obesity, Hypertrophic cardiomyopathy, Macroglossia, Failure to thrive, ... OMIM:612938
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Flexion contracture, Splenomegaly, Hepatomegaly OMIM:608540
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Pulmonary insufficiency, Absence of lymph node germinal center, Absent tonsils... ORPHA:277
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Increased circulating ferritin concentration, Diffuse alveolar hemorrhage, Splenome... OMIM:616050
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Spontaneous,... OMIM:214500
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Danon Disease
Dilated cardiomyopathy, Cognitive impairment, Arrhythmia, Wolff-Parkinson-White syndrome, Hypertr... OMIM:300257
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Abnormal heart morphology, Obesity ORPHA:254525
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Omphalocele, Increased body mass index, Increased body weight, Dry skin, Broad-base... OMIM:614450
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia ORPHA:2151
Cinca Syndrome
Leukocytosis, Uveitis, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concen... ORPHA:1451
Congenital Rubella Syndrome
Atrial septal defect, Cataract, Corneal opacity, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Ap... ORPHA:290
Carnitine Palmitoyltransferase I Deficiency
Transient hyperlipidemia, Hepatic steatosis, Arrhythmia, Hepatomegaly, Elevated circulating creat... OMIM:255120
Romano-Ward Syndrome
Sinus bradycardia, Hypokalemia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventri... ORPHA:101016
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Obesity, Truncal obesity, Inguinal hernia, Hip contracture OMIM:618363
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Hypereosinophilia, Lymphadenopathy OMIM:212050
Congenital Sialidosis Type 2
Developmental cataract, Hepatosplenomegaly, Abnormal EKG, Cataract, Corneal opacity, Hepatomegaly... ORPHA:93400
Short Syndrome
Lipodystrophy, Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxo... ORPHA:3163
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:158057
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Obesity, Failure to thrive in infancy OMIM:613670
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity, Ataxia, Unsteady gait, Waddling gait, Difficulty walking ORPHA:464282
Polycythemia Vera
Increased hemoglobin, Gastrointestinal hemorrhage, Leukocytosis, Cerebral hemorrhage, Increased h... OMIM:263300
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Obesity, Mitral valve prolapse ORPHA:2233
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepatomegaly, Jaundic... OMIM:616278
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Sinus tachycardia, Abnormal pulse pressure, Hyperkalemia, Hypocalcemia, Hypotens... ORPHA:466650
Proteus Syndrome
Multiple lipomas, Lymphangioma, Splenomegaly, Lipoma, Limbal dermoid OMIM:176920
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Cognitive impairment, Portal hypertension, Gastrointestinal h... ORPHA:64743
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Alagille Syndrome
Corneal dystrophy, Cholestasis, Atrial septal defect, Hepatomegaly, Telangiectasia of the skin, R... ORPHA:52
Morbid Obesity And Spermatogenic Failure
Obesity, Myocardial infarction, Hypertension, Congestive heart failure OMIM:615703
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count OMIM:618982
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Bardet-Biedl Syndrome 8
Obesity, Situs inversus totalis OMIM:615985
Lambert Syndrome
Inguinal hernia, Ventricular septal defect, Failure to thrive in infancy ORPHA:1296
Familial Hyperaldosteronism Type Iii
Hypokalemia, Prolonged QT interval, Hypertension, Left ventricular hypertrophy, Intracranial hemo... ORPHA:251274
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Neutrophilia... ORPHA:829
Summitt Syndrome
Obesity OMIM:272350
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Choreoathetosis, Bradykinesia, Ataxia, Chorea, Pallor, Falls ORPHA:13
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Subvalvular aortic stenosis, Obesity, Inguinal hernia, Membranous subvalvular aortic ... ORPHA:3191
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Obesity, Increased adipose tissue, Childhood-onset truncal obesity ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Obesity, Increased adipose tissue, Childhood-onset truncal obesity ORPHA:71526
Indolent Systemic Mastocytosis
Mastocytosis, Abnormal mast cell morphology, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, ... OMIM:603553
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Felty Syndrome
Cellulitis, Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Hepatomega... ORPHA:47612
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Hypoplasia of right ventricle, Ven... ORPHA:1209
Bardet-Biedl Syndrome 16
Obesity OMIM:615993
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Hyperprolinemia, Increased serum pyruvate, Splenomegaly, Failure to thrive, Cardiomyopathy, Macro... OMIM:619046
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepat... OMIM:300635
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Fanconi Anemia, Complementation Group I
Decreased body weight, Patent foramen ovale, Atrial septal defect, Ventricular septal defect, Pallor OMIM:609053
Sialidosis Type 2
Flexion contracture, Corneal opacity, Splenomegaly, Hepatomegaly, Inguinal hernia, Ascites, Umbil... ORPHA:87876
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Hyperlipidemia, Portal hypertension, Gastrointestinal hemorrhage, Splenomegaly,... ORPHA:1414
Roifman Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Ventricular septal defect, Hip contrac... OMIM:616651
Immunodeficiency 55
Neutropenia, Lymphadenopathy OMIM:617827
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Distal arthrogryposis, Decreased plasma total carnitine, Arrhythmia, Hepatomeg... ORPHA:42
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity, Ataxia, Broad-based gait ORPHA:411515
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy OMIM:616816
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Muscular dystrophy, Myopathy,... OMIM:615980
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Flexion contracture, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Failure... OMIM:617591
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Epistaxis ORPHA:721
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Glycogen Storage Disease Ii
Shortened PR interval, Wolff-Parkinson-White syndrome, Splenomegaly, Hepatomegaly, Elevated circu... OMIM:232300
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive, Biliary tra... ORPHA:79301
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome