Gene Summary

Name:
enhancer of zeste 2 polycomb repressive complex 2 subunit
Synonyms:
Enx-1,  Enx1h,  KMT6

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
increased circulating triglyceride level Ezh2tm1a(EUCOMM)Wtsi HET Early adult 2.06×10-08
increased lumbar vertebrae number Ezh2tm1a(EUCOMM)Wtsi HET Early adult 4.90×10-06

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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.

Legacy Phenotype Associated Images

View all 409 images

Human diseases caused by Ezh2 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.

The table below shows human diseases associated to Ezh2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Weaver Syndrome
Tall stature, Hypoplasia of penis ORPHA:3447
Weaver Syndrome
Scoliosis, Kyphosis OMIM:277590

The table below shows human diseases predicted to be associated to Ezh2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Cervical Rib
Cervical ribs OMIM:117900
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Glycogen Storage Disease Vi
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:232700
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Ethanolaminosis
Cardiomegaly OMIM:227150
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Abnormal lung morphology, Respiratory distress, Abnormal respi... ORPHA:70589
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... OMIM:616726
Nephronophthisis 16
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Pulmoni... OMIM:615382
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Wheezing, Tracheal calcification, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia OMIM:619175
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Cough, Rhinorr... OMIM:615067
Asbestos Intoxication
Wheezing, Exertional dyspnea, Ground-glass opacification, Late inspiratory crackles, Pulmonary fi... ORPHA:2302
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis OMIM:300455
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Recurrent Respiratory Papillomatosis
Wheezing, Abnormal lung morphology, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Abnormal circulating lipid concentration OMIM:615238
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Bardet-Biedl Syndrome 11
Abnormality of the kidney, Obesity OMIM:615988
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Pulmonary arterial hypertension, Atelectasis, Pneumothorax, Neona... ORPHA:70588
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney, Obesity OMIM:615987
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Childhood-onset truncal obesity, Truncal obesity, Micropenis OMIM:610156
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... OMIM:605814
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Lipase Deficiency, Combined
Hypertriglyceridemia OMIM:246650
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... OMIM:615703
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Immunodeficiency 48
Hepatomegaly, Failure to thrive, Splenomegaly OMIM:269840
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Hyperlipoproteinemia, Type Id
Hepatomegaly, Failure to thrive, Splenomegaly OMIM:615947
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Cholestasis,... OMIM:615415
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Bardet-Biedl Syndrome 12
Abnormality of the kidney, Obesity OMIM:615989
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content, Truncal obesity, Large for gestational age, Enlarged tonsils ORPHA:293964
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:607616
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Isolated Growth Hormone Deficiency, Type V
Truncal obesity, Postnatal growth retardation, Abdominal obesity OMIM:618160
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Respiratory distress, Pulmo... OMIM:610978
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia OMIM:614480
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Atelectasis, Recurrent pneumonia OMIM:268500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hepatomegaly, Failure to thrive,... OMIM:618495
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Mental Retardation, Autosomal Dominant 39
Obesity OMIM:616521
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Abnormal heart morphology, Enlarged kidney, Nephropathy, ... ORPHA:85445
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Failure to thrive secondary to recurrent infections, Hepatomegaly, Splenomegal... OMIM:608971
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia OMIM:613877
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Bardet-Biedl Syndrome 6
Hypospadias, Renal cyst, Obesity OMIM:605231
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Bardet-Biedl Syndrome 18
Renal insufficiency, Obesity OMIM:615995
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomega... OMIM:615285
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Pulmonary Hemosiderosis
Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Transient pul... OMIM:178550
Galactosemia Iii
Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Failure to thrive, Splenomegaly OMIM:230350
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney, Obesity OMIM:615993
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Large for gestational age ORPHA:2432
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia ORPHA:436182
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Nephronophthisis 2
Nephronophthisis, Situs inversus totalis, Enlarged kidney, Absence of renal corticomedullary diff... OMIM:602088
Mast Cell Sarcoma
Weight loss, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Mu-Heavy Chain Disease
Nephropathy, Weight loss, Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Anemia, S... ORPHA:100024
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia OMIM:601820
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Bronchial wall ... OMIM:610921
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Increased body weight, Ascites, Renal insufficiency ORPHA:890
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Nasal flaring, Pulmonar... ORPHA:70587
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Neutral Lipid Storage Disease With Myopathy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, B... OMIM:208540
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria, Splenomegaly ORPHA:882
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Pulmonary cyst, Bronchoge... ORPHA:2357
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Pulmonary fibrosi... ORPHA:133
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Temple Syndrome
Scoliosis, Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Hepatomegaly, Acute myeloid leukemia, Thrombocytopenia, Anemia, Splenomega... OMIM:133180
Bardet-Biedl Syndrome 22
Obesity OMIM:617119
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Macrosomia Adiposa Congenita
Large for gestational age, Eosinophilia, Obesity OMIM:248100
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Microcytic anemia, Splenomegaly ORPHA:231242
Carcinoma Of Esophagus
Weight loss, Lymphadenopathy, Obesity ORPHA:70482
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Failure to thrive, Hepatospleno... OMIM:618963
Syndromic X-Linked Intellectual Disability 7
Obesity, Micropenis, Hypoplasia of penis ORPHA:85274
Amyloidosis, Familial Visceral
Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Nephrotic syndrome, Splenomegaly, Proteinuria OMIM:105200
Adenocarcinoma Of The Esophagus
Lymphadenopathy, Obesity ORPHA:99976
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:86893
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia OMIM:612526
Trimethylaminuria
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Enlarged kidney, Hydronephrosis, Atrioventricular canal defect, Transposition o... OMIM:314390
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Hepatic cysts, Panc... ORPHA:730
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatomegaly, Hepatic fibrosis, Stage 5 chronic kidney disease, Sp... OMIM:616217
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Bardet-Biedl Syndrome 5
Micropenis, Obesity OMIM:615983
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Bardet-Biedl Syndrome 8
Obesity, Renal dysplasia, Situs inversus totalis, Hypospadias OMIM:615985
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... OMIM:207750
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Tyrosinemia, Type I
Cirrhosis, Enlarged kidney, Renal Fanconi syndrome, Hepatocellular carcinoma, Glomerular sclerosi... OMIM:276700
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Primary Ciliary Dyskinesia
Abnormal sputum, Anomalous pulmonary venous return, Wheezing, Respiratory tract infection, Bronch... ORPHA:244
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Attrv30M Amyloidosis
Abnormal renal physiology, Weight loss, Nephropathy, Cardiomegaly, Cardiomyopathy ORPHA:85447
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Eosinophilia, Obesity OMIM:234350
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased... OMIM:618620
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Bronchiolitis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia OMIM:603471
Bardet-Biedl Syndrome 19
Renal insufficiency, Obesity OMIM:615996
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia ORPHA:280356
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Hepatomegaly, Jaundice, Failure to thrive, Splenomegaly ORPHA:172
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Obesity, Splenomegaly OMIM:605309
Summitt Syndrome
Obesity OMIM:272350
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Enlarged kidney, Focal segmental glomerulosclerosis, Proteinuria, Macrovesi... OMIM:617303
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Rajab Interstitial Lung Disease With Brain Calcifications 2
Scoliosis, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Follicular Lymphoma
Abnormality of the peritoneum, Weight loss, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno... ORPHA:545
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Splenomegaly, Renal insufficiency, Lymphadenopathy, Pr... ORPHA:650
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Thrombocytopenia, Splenomegaly, Failure to thrive, Anemia OMIM:615085
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity OMIM:184700
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chronic kidney disease, Obesity OMIM:615994
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Failure to thrive, Splenomegaly OMIM:228000
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hyperlordosis, Scoliosis, Kyphosis, Back pain, Hypertriglyceridemia, Spinal rigidity, Elevated ci... ORPHA:98855
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia OMIM:606721
Vertebral Hypersegmentation And Orofacial Anomalies
Supernumerary ribs, Six lumbar vertebrae OMIM:619122
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity, Hypertrophic cardiomyopathy OMIM:615418
Kaposiform Lymphangiomatosis
Multiple renal cysts, Enlarged kidney, Pancreatic cysts, Pericardial effusion, Abnormal lymphatic... ORPHA:464329
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Kyphosis, Back pain, Hypertriglyceridemia, Spinal rigidity, Elevated ci... ORPHA:98863
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Hemivertebrae, Vertebral fusion, Block vertebrae, Short neck OMIM:271520
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Long-chain dicarboxylic aciduria, Enlarged kidney, Macrovesicular hepatic steatosis, Hepatomegaly... OMIM:608836
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Anemia of inadequate production OMIM:224100
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Enlarged kidney, Membranoproliferative glomerulonephritis, Obesity, Ma... ORPHA:251004
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia OMIM:608600
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Large for gestational age, Visceromegaly, Pancreatic islet-cell hyperplasia OMIM:601165
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Glycerol Kinase Deficiency
Hypertriglyceridemia OMIM:307030
Emery-Dreifuss Muscular Dystrophy
Hyperlordosis, Scoliosis, Kyphosis, Back pain, Hypertriglyceridemia, Spinal rigidity, Elevated ci... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hyperlordosis, Scoliosis, Kyphosis, Back pain, Hypertriglyceridemia, Spinal rigidity, Elevated ci... ORPHA:98853
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Waardenburg Syndrome Type 3
Narrow nasal bridge, Tracheomalacia, Atelectasis ORPHA:896
Bardet-Biedl Syndrome 4
Renal cyst, Abnormality of the kidney, Obesity OMIM:615982
Nephronophthisis 15
Nephronophthisis, Obesity OMIM:614845
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Cardiomyopathy OMIM:613313
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:79085
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Smith-Magenis Syndrome
Scoliosis, Hypercholesterolemia, Hypertriglyceridemia OMIM:182290
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Hypertriglyceridemia, Kyphosis OMIM:615381
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Trisomy 5P
Obesity, Renal hypoplasia/aplasia, Hypoplasia of penis ORPHA:1742
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Failure to th... OMIM:211600
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Immunodeficiency 54
Postnatal growth retardation, Hepatomegaly, Reduced natural killer cell count, Failure to thrive,... OMIM:609981
Congenital Toxoplasmosis
Failure to thrive in infancy, Hepatomegaly, Jaundice, Thrombocytopenia, Cardiomegaly, Anemia, Asc... ORPHA:858
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Enlarged kidney, Hepatoblastoma, Hepatomegaly, Pancreatic hyperplasia, Vesi... OMIM:130650
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Aspergillosis
Pleuritis, Bronchiectasis, Cough, Pneumonia, Abnormal tracheobronchial morphology, Sinusitis, Gro... ORPHA:1163
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Aminoaciduria, Glycosuria, Hepatomegaly, Large for gestational age, Nephrocalc... OMIM:616026
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Weight loss, Hepatomegaly, Jaundice, Thrombocytope... ORPHA:905
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:604367
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Central Precocious Puberty
Overgrowth, Increased body weight, Obesity ORPHA:759
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Hematuria, Pericarditis, Acute kidney injury, Urinary bladde... ORPHA:449395
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Obesity, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Hypoalbuminemia, Hypertriglyceridemia, Abnormal circulating lipid concentra... ORPHA:567548
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hypertyrosinemia, Hyperthreonin... ORPHA:247598
Senior-Loken Syndrome 9
Nephronophthisis, Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis, Stage 5 chronic ki... OMIM:616629
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:618398
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Hepatic ... OMIM:200995
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia ORPHA:435651
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia ORPHA:363400
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Hyperlipoproteinemia, Type I
Increased circulating chylomicron concentration, Hypercholesterolemia, Lactescent serum, Hyperlip... OMIM:238600
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity, Postnatal growth retardation, Abnormal heart morphology ORPHA:254525
Retinitis Pigmentosa 71
Pancreatitis, Obesity OMIM:616394
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Abnormal heart morphology, Postnatal growth retardation, Overgrowth, S... ORPHA:254534
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... OMIM:616860
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Cough, R... ORPHA:90060
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Increased urinary p... OMIM:618892
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy OMIM:617713
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Glycogen Storage Disease Ib
Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Neutropenia, Hepat... OMIM:232220
Hemihyperplasia-Multiple Lipomatosis Syndrome
Overgrowth, Abnormality of the lymphatic system, Nephroblastoma, Enlarged kidney ORPHA:276280
Glycogen Storage Disease Ia
Enlarged kidney, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Hepatomegaly, Decr... OMIM:232200
Diaphanospondylodysostosis
Nephroblastomatosis, Nephrogenic rest, Cystic renal dysplasia, Enlarged kidney, Abnormal liver lo... OMIM:608022
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Ventricular septal defect, Cholestasis, Hepatomegaly, Hepatic fibrosis, Chronic... OMIM:615630
Lipe-Related Familial Partial Lipodystrophy
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperlipidemia ORPHA:435660
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Abnormal heart morphology, Enlarged kidney, Proteinuria, Urinary glycosamin... ORPHA:505248
Hemorrhagic Fever-Renal Syndrome
Pleural effusion, Respiratory insufficiency, Atelectasis, Hemoptysis, Pulmonary infiltrates ORPHA:340
Farber Disease
Respiratory distress, Recurrent upper respiratory tract infections, Abnormal larynx morphology, N... ORPHA:333
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly... OMIM:256550
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Biemond Syndrome Type 2
Hypospadias, Obesity ORPHA:141333
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Bifid ureter, Ventricular septal defect, Enlarged kidney, Chronic neutropenia,... ORPHA:500095
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration ORPHA:209902
Beckwith-Wiedemann Syndrome
Hypercalciuria, Vesicoureteral reflux, Cardiomegaly, Ureteral duplication, Obesity, Multiple rena... ORPHA:116
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... OMIM:278000
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Omenn Syndrome
Severe B lymphocytopenia, Hepatomegaly, Hypoplasia of the thymus, Thrombocytopenia, Eosinophilia,... OMIM:603554
Glycogen Storage Disease Ixc
Hypertriglyceridemia OMIM:613027
Bardet-Biedl Syndrome 21
Overweight, Horseshoe kidney, Obesity OMIM:617406
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Hypoplasia of penis, Renal insufficiency, Displacement of the urethr... ORPHA:2377
Lymphangioleiomyomatosis
Restrictive ventilatory defect, Dyspnea, Emphysema, Cough, Atelectasis, Chylothorax, Hemoptysis, ... ORPHA:538
Obesity Due To Prohormone Convertase I Deficiency
Obesity, Childhood-onset truncal obesity, Failure to thrive, Cholestasis ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Obesity, Childhood-onset truncal obesity, Failure to thrive, Cholestasis ORPHA:71526
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegaly, Intermittent jaundic... OMIM:601847
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatitis, Failure to thrive, Spleno... OMIM:613812
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Postaxial Acrofacial Dysostosis
Supernumerary vertebrae OMIM:263750
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Smith-Magenis Syndrome
Scoliosis, Hypercholesterolemia, Hypertriglyceridemia, Abnormal form of the vertebral bodies ORPHA:819
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia ORPHA:528
Waardenburg Syndrome, Type 1
Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Bardet-Biedl Syndrome 3
Renal hypoplasia, Obesity OMIM:600151
Sclerosing Cholangitis, Neonatal
Cirrhosis, Biliary cirrhosis, Sclerosing cholangitis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight, Anemia OMIM:614450
Autosomal Dominant Hyper-Ige Syndrome
Cough, Atelectasis, Recurrent respiratory infections, Wide nasal bridge ORPHA:2314
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Jaundice, Pulmonic valve myxoma, Cardiomegaly, Ascites, Bacterial en... ORPHA:615
Lipodystrophy, Congenital Generalized, Type 4
Hyperlordosis, Scoliosis, Hypertriglyceridemia, Spinal rigidity, Elevated circulating creatine ki... OMIM:613327
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatomegaly, Jaundice, Hepatic fibrosis, Splenomega... OMIM:616278
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
H Syndrome
Microcytic anemia, Enlarged kidney, Histiocytosis, Hepatosplenomegaly, Micropenis, Abnormality of... ORPHA:168569
Sickle Cell Anemia
Hemolytic anemia, Hematuria, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red ... OMIM:603903
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
3Q29 Microdeletion Syndrome
Six lumbar vertebrae ORPHA:65286
Alstrom Syndrome
Scoliosis, Kyphosis, Hyperuricemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:203800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia ORPHA:364
Dysbetalipoproteinemia
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration,... ORPHA:412
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatomegaly, Jaundice, Failure to thrive, Splenomegaly OMIM:235555
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Pleural effusion, Cough, Pneumo... ORPHA:3392
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Endocrine-Cerebroosteodysplasia
Microphallus, Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Micropenis OMIM:612651
Chromosome 16P13.3 Deletion Syndrome, Proximal
Polysplenia, Hypoplastic left heart, Failure to thrive, Abnormality of the kidney, Obesity OMIM:610543
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Joubert Syndrome 32
Large for gestational age, Tall stature, Hypertrophic cardiomyopathy OMIM:617757
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Tall stature, Abnormal pulmonary valve morphology, Pulmonic stenosis, Overgrowth, Large for gesta... ORPHA:137634
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Renal insufficiency, Nephropathy, Nephroblastoma, Hypospadias, Obesity OMIM:194072
Abcd Syndrome
Large for gestational age OMIM:600501
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal fibrosis, Bile ... OMIM:602347
Noonan Syndrome 8
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Left ventricular hypertrophy,... OMIM:615355
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Tubulointerstitial fibrosis, Enlarged kidney, Hepatocellular adenoma, Hepatocellular carcinoma, H... ORPHA:79259
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Hepatomegaly, Increased body weight, Renal Fanconi syndrome, Large for gestational ag... ORPHA:263455
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight, Pancreatic islet-cell hyperplasia ORPHA:276608
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Obesity OMIM:615633
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Distal 16P11.2 Microdeletion Syndrome
Obesity, Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnormality of the kidney... ORPHA:261222
Pparg-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperuricemia ORPHA:79083
Hardikar Syndrome
Ventricular septal defect, Hydroureter, Recurrent urinary tract infections, Hepatomegaly, Jaundic... OMIM:612726
Familial Partial Lipodystrophy, Dunnigan Type
Hypertriglyceridemia ORPHA:2348
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Respiratory insufficiency, Atelectasis, Intercostal muscle weakness, Respiratory... ORPHA:258
Leprechaunism
Long penis, Enlarged kidney, Enlarged ovaries, Postnatal growth retardation, Decreased body weigh... ORPHA:508
Whim Syndrome
Respiratory tract infection, Bronchiectasis, Recurrent upper respiratory tract infections, Pneumo... ORPHA:51636
Microtriplication 11Q24.1
Scoliosis, Short neck, Hyperlipidemia ORPHA:289522
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Hepatocellular adenoma, Hepatic steatosis, Myoglobinuria, Cholestasis, Hepatomegaly, H... ORPHA:264580
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Failure to thr... OMIM:607765
Mody
Overweight, Exocrine pancreatic insufficiency, Hepatocellular adenoma, Elevated hemoglobin A1c, N... ORPHA:552
Glycogen Storage Disease Iii
Elevated circulating creatine kinase concentration, Hyperlipidemia OMIM:232400
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia ORPHA:66628
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Micropenis, Increased body weight OMIM:300860
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Abnormal blood gas level, Pulmonary edema, Hypoxemia, Pu... ORPHA:70578
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Cholecystitis, Weight loss, Hepatomegaly, Jaundice, Ascites, Splenomegaly... ORPHA:131
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia ORPHA:179494
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Pancytopenia, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Obesity OMIM:610628
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Atelectasis OMIM:618278
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Cardiomegaly, Anem... OMIM:618886
Short-Rib Thoracic Dysplasia 12
Respiratory insufficiency, Atelectasis, Neonatal death, Pulmonary hypoplasia, Intrauterine growth... OMIM:269860
Pseudohypoparathyroidism, Type Ib
Low urinary cyclic AMP response to PTH administration, Obesity OMIM:603233
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Respiratory distress, Short nose, Tracheomalacia, Respiratory ins... ORPHA:536467
Xp21 Deletion Syndrome
Elevated circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:261476
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Increased body weight, Abdominal obesity OMIM:615954
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:370
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Classical-Like Ehlers-Danlos Syndrome Type 2
Kyphosis, Sacral dimple, Hypertriglyceridemia, Kyphoscoliosis, Thoracic scoliosis ORPHA:536532
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Aminoaciduria, Thrombocytopenia, Anemia, Failure to thrive, Ketonuria, Large for ges... OMIM:614520
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Enlarged kidney, Polysplenia, Tall stature, Birth length greater than ... OMIM:312870
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Cholelithiasis, Cholestasis... ORPHA:53035
Zygomycosis
Air crescent sign, Parenchymal consolidation, Pleural effusion, Cough, Acute infectious pneumonia... ORPHA:73263
Familial Chylomicronemia Syndrome
Increased circulating chylomicron concentration, Hypertriglyceridemia, Hyperlipidemia ORPHA:444490
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Sleep apnea, Respiratory distress, Exertional dyspnea, Orthopnea, Re... ORPHA:365
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Postnatal growth retardation, Obesity OMIM:600122
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Coronary artery stenosis, Abdominal obesity OMIM:615812
Leigh Syndrome With Nephrotic Syndrome
Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegaly, Nephrotic syndrom... ORPHA:255249
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Bifid ureter, Ventricular septal defect, Tall stature, Renal dysplasia, Overgr... OMIM:617107
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration ORPHA:79086
Neutral Lipid Storage Disease With Ichthyosis
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98907
Distal Tetrasomy 15Q
Atrial septal defect, Horseshoe kidney, Abnormal heart morphology, Birth length greater than 97th... ORPHA:314588
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Scoliosis, Hypertriglyceridemia, Hypercalcemia ORPHA:369837
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Hyperglyci... ORPHA:470
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertriglyceridemia, Decreased HDL cholesterol concentration ORPHA:280365
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Spina bifida, Chronic pulmonary obstruction, Bulbous nose, Choanal atresi... ORPHA:567
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Overweight, Renovascular hypertension, Bicuspid aortic valve ORPHA:401923
Lipodystrophy, Familial Partial, Type 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:151660
Joubert Syndrome 8
Hepatomegaly, Prolonged neonatal jaundice, Obesity OMIM:612291
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia ORPHA:369
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia OMIM:617591
Bardet-Biedl Syndrome
Multicystic kidney dysplasia, Hepatic fibrosis, Nephrotic syndrome, Hypoplasia of penis, Obesity ORPHA:110
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Dilated cardiomyopathy, Overweight, Ventricular septal defect, Pericardial ... ORPHA:26793
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Relapsing Polychondritis
Dyspnea, Cough, Atelectasis, Laryngomalacia, Abnormal pattern of respiration ORPHA:728
Perlman Syndrome
Nephroblastomatosis, Nephrogenic rest, Visceromegaly, Renal hamartoma, Ascites, Nephroblastoma, L... OMIM:267000
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Increased alpha-globulin, Hyperlipidemia ORPHA:86816
Lysosomal Acid Lipase Deficiency
Xanthelasma, Hypercholesterolemia, Hyponatremia, Steatorrhea, Hypertriglyceridemia, Hyperkalemia ORPHA:275761
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia ORPHA:167
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Chand Syndrome
Depressed nasal bridge, Atelectasis ORPHA:1401
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Umbilical hernia, Atelectasis, Respiratory insufficiency, Recurrent respiratory... ORPHA:534
Alagille Syndrome 1
Hypercholesterolemia, Butterfly vertebral arch, Hypertriglyceridemia, Hemivertebrae OMIM:118450
Seckel Syndrome 10
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:617253
Goodpasture Syndrome
Ground-glass opacification, Pulmonary hemorrhage, Restrictive ventilatory defect, Reticular patte... OMIM:233450
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia
Hypermagnesiuria, Obesity ORPHA:34527
Insulinoma
Increased body weight, Abnormality of the pancreatic islet cells ORPHA:97279
Glycogen Storage Disease Of Heart, Lethal Congenital
Ascites, Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c, Supernumerary ribs OMIM:619127
Narcolepsy 7
Obesity OMIM:614250
Methanol Poisoning
Hyperlipidemia ORPHA:31825
19P13.12 Microdeletion Syndrome
Scoliosis, Kyphosis, Short neck, Hyperlipidemia ORPHA:254346
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Biliary cirrhosis, Abnormality of body weight, Weight loss, Glycosuria, Thrombo... ORPHA:2298
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Ovoid vertebral bodies, Lumbar hyperlordosis, Short neck, Hyperlipidemia ORPHA:1830
Niemann-Pick Disease Type B
Abnormal circulating lipid concentration, Hypertriglyceridemia, Decreased HDL cholesterol concent... ORPHA:77293
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Hellp Syndrome
Microangiopathic hemolytic anemia, Hemolytic anemia, Acute kidney injury, Decreased mean corpuscu... ORPHA:244242
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Cholestasis-Lymphedema Syndrome
Hyperlipidemia ORPHA:1414
Combined Deficiency Of Factor V And Factor Viii
Hyperuricemia, Hyperlipidemia ORPHA:35909
Cystic Echinococcosis
Pulmonary cyst, Multiple pulmonary cysts, Abnormal subpleural morphology, Asthma, Abnormal pulmon... ORPHA:400
Neutral Lipid Storage Myopathy
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia ORPHA:98908
Magel2-Related Prader-Willi-Like Syndrome
Atrial septal defect, Increased body weight, Failure to thrive, Abdominal obesity, Micropenis ORPHA:398069
Adrenocortical Carcinoma
Abnormality of urine homeostasis, Increased urinary cortisol level, Increased body weight, Weight... ORPHA:1501
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Wiedemann-Rautenstrauch Syndrome
Scoliosis, Hypertriglyceridemia OMIM:264090
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Decreased HDL choles... OMIM:256040
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia OMIM:608594
Carnitine Palmitoyltransferase Ii Deficiency
Decreased plasma total carnitine, Decreased plasma free carnitine, Elevated circulating acylcarni... ORPHA:157
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Back pain, Hyperlipidemia ORPHA:439232
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia OMIM:269700
Wiedemann-Rautenstrauch Syndrome
Cervical vertebral dysplasia, Irregular sclerotic endplates, Hypertriglyceridemia, Atlantoaxial a... ORPHA:3455
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Decreased plasma total carnitine, Decreased plasma free carnitine, Elevated circulating acylcarni... ORPHA:228308
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:2442
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Atypical Werner Syndrome
Hypertriglyceridemia, Intervertebral disc degeneration ORPHA:79474
Familial Multiple Lipomatosis
Hyperlipidemia ORPHA:199276
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia OMIM:608612
Primary Lipodystrophy
Hyperlipidemia ORPHA:90970
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration ORPHA:567983
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia ORPHA:90154
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperlipidemia OMIM:248370
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia ORPHA:90153
Primary Sjögren Syndrome
Nonproductive cough, Bronchitis, Abnormal pulmonary interstitial morphology, Usual interstitial p... ORPHA:289390
Glycogen Storage Disease Ic
Xanthelasma, Hyperuricemia, Hyperlipidemia OMIM:232240
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Triglyceride Deposit Cardiomyovasculopathy
Elevated circulating creatine kinase concentration, Hyperlipidemia ORPHA:565612
Fabry Disease
Abnormal circulating lipid concentration, Hyperlipidemia ORPHA:324
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Scoliosis, Hyponatremia, Hyperlipidemia ORPHA:293987
Aromatase Deficiency
Hyperlipidemia ORPHA:91
Alström Syndrome
Kyphosis, Lumbar scoliosis, Thoracic scoliosis, Hypertriglyceridemia, Hyperlipidemia ORPHA:64
Turner Syndrome
Scoliosis, Kyphosis, Short neck, Hyperlipidemia ORPHA:881
Mosaic Monosomy X
Scoliosis, Kyphosis, Short neck, Hyperlipidemia ORPHA:99228
Monosomy X
Scoliosis, Kyphosis, Short neck, Hyperlipidemia ORPHA:99226
Turner Syndrome Due To Structural X Chromosome Anomalies
Scoliosis, Kyphosis, Short neck, Hyperlipidemia ORPHA:99413
Woodhouse-Sakati Syndrome
Hyperlipidemia OMIM:241080
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Increased LDL cholesterol concentration, Hyperlipidemia ORPHA:391665
Woodhouse-Sakati Syndrome
Hyperlipidemia ORPHA:3464
Weaver Syndrome
Tall stature, Hypoplasia of penis ORPHA:3447
Weaver Syndrome
Scoliosis, Kyphosis OMIM:277590

Histopathology

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

There is no histopathology data for Ezh2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ezh2.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Ezh2 harnesses the intranuclear actin cytoskeleton to remodel chromatin in differentiating Th cells. iScience (September 2021) Ezh2tm1a(EUCOMM)Wtsi PMC8479699
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019)