Gene Summary

CUB and Sushi multiple domains 3

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Csmd3em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Csmd3em1(IMPC)Mbp HOM Late adult 0.00
decreased total body fat amount Csmd3em1(IMPC)Mbp HOM Early adult 1.34×10-06
eye hemorrhage Csmd3em1(IMPC)Mbp HOM Late adult 6.29×10-05
increased circulating bilirubin level Csmd3em1(IMPC)Mbp HOM Early adult 1.05×10-09
increased lean body mass Csmd3em1(IMPC)Mbp HOM Early adult 1.42×10-06
abnormal coat/ hair morphology Csmd3em1(IMPC)Mbp HOM Middle aged adult 3.01×10-05
abnormal skin morphology Csmd3em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Csmd3em1(IMPC)Mbp HOM Late adult 0.00
abnormal lymph node morphology Csmd3em1(IMPC)Mbp HOM Late adult 0.00
limb grasping Csmd3em1(IMPC)Mbp HOM   Early adult 3.15×10-05
increased bone mineral content Csmd3em1(IMPC)Mbp HOM   Early adult 8.68×10-05

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lacZ Expression

Expression data not available

Associated Images

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


XRay Images Whole Body Dorso Ventral

30 Images



41 Images


XRay Images Whole Body Dorso Ventral

33 Images


XRay Images Whole Body Lateral Orientation

11 Images


XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Csmd3 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 Csmd3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Afibrinogenemia, Congenital
Splenic rupture, Abnormal bleeding OMIM:202400
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Memory impairment, Inertia, Anxiety, Frontotemporal dementia, Inappropriate behavior, Motor deter... ORPHA:412066
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia, Failure to thrive OMIM:129850
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Tremor ORPHA:79234
Kerion Celsi
Lymphadenopathy ORPHA:499
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Vitreous hemorrhage OMIM:612304
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia OMIM:614164
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia OMIM:618660
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Failure to thrive, Hyperbil... OMIM:605814
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Immunodeficiency 7
Hypereosinophilia, Lymphadenopathy OMIM:615387
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Bruising susceptibility, Hepatosplenomegaly, Ecchymosis, Lymphangioma... ORPHA:464329
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Gastrointestinal hemorrhage, Decreased pro... ORPHA:543
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of t... OMIM:612840
Retinopathy Of Prematurity
Vitreous hemorrhage ORPHA:90050
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Memory impairment, Anxiety, Frontotemporal dementia, Ment... ORPHA:100070
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia OMIM:179700
Fish-Eye Disease
Lymphadenopathy, Angina pectoris, Splenomegaly, Hepatomegaly ORPHA:79292
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia ORPHA:673
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Dilated cardiomyopathy, Hepatomegaly OMIM:615895
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Retinal Capillary Malformation
Hyphema, Vitreous hemorrhage ORPHA:71213
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Subconjunctival hemorrhage, Bundle branch block, Hypertension, Hematemesis, Subdura... ORPHA:99827
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Hyperbilirubinemia OMIM:609734
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Hyperbilirubinemia, Shunt, Primary
Hyperbilirubinemia OMIM:237800
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level OMIM:618987
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Retinal hemorrhage, Ecchymosis, Gingival bleeding, Neu... ORPHA:88
Hepatic Veno-Occlusive Disease
Increased body weight, Increased total bilirubin ORPHA:890
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Lipoyltransferase 1 Deficiency
Dystonia, Increased total bilirubin OMIM:616299
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia, Rickets OMIM:619232
Hypermethioninemia Due To Adenosine Kinase Deficiency
Failure to thrive, Hypermethioninemia, Hyperbilirubinemia OMIM:614300
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Heme Oxygenase 1 Deficiency
Diffuse alveolar hemorrhage, Thrombocytosis, Coombs-positive hemolytic anemia, Cervical lymphaden... OMIM:614034
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Hyperbilirubinemia, Hernia ORPHA:101009
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count OMIM:618982
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Lymphadenopathy OMIM:212050
Liver Failure, Infantile, Transient
Hyperbilirubinemia OMIM:613070
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage OMIM:312700
Retinal Venous Beading
Neutropenia, Vitreous hemorrhage, Retinal neovascularization OMIM:180080
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Umbilical hernia, Delayed proximal femoral epiphyseal ossification ORPHA:95717
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Pulmonary insufficiency, Absence of lymph node germinal center, Absent tonsils... ORPHA:277
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Alpha-Heavy Chain Disease
Anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:100025
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... OMIM:300853
Infantile Sialic Acid Storage Disease
Failure to thrive, Osteopenia, Conjugated hyperbilirubinemia OMIM:269920
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:97290
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Vasculitis, Lymphadenopathy ORPHA:37748
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia OMIM:608184
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreous hemorrhage, Peripheral retinal neovascularization OMIM:193235
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, My... ORPHA:3226
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity OMIM:616278
Primary Myelofibrosis
Pancytopenia, Petechiae, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Ecchymosis, Throm... ORPHA:824
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:319487
Immunodeficiency 55
Neutropenia, Lymphadenopathy OMIM:617827
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... ORPHA:247598
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Rhabdoid Tumor
Neoplasm of the liver, Anemia, Hypertension, Lymphadenopathy, Thrombocytopenia, Internal hemorrhage ORPHA:69077
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu... OMIM:615559
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Petechiae, Gastrointestinal hemorrhage, Coombs-positive hemolytic anemia, Autoimmun... OMIM:603909
11Q22.2Q22.3 Microdeletion Syndrome
Abnormal social behavior, Anxiety, Obesity, Poor eye contact, Hypoplasia of the corpus callosum ORPHA:444002
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Marburg Hemorrhagic Fever
Subconjunctival hemorrhage, Pancreatitis, Prolonged prothrombin time, Lymphopenia, Thrombocytopen... ORPHA:99826
Griscelli Syndrome Type 2
Pancytopenia, Petechiae, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lym... ORPHA:79477
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Conjugated hyperbilirubinemia OMIM:214900
Pleural Mesothelioma
Lymphadenopathy, Abnormal cardiovascular system physiology, Hepatomegaly ORPHA:50251
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Osteopenia, Conjugated hyperbilirubinemia, Rickets OMIM:211600
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Umbilical hernia, Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Hypermanganesemia With Dystonia 1
Dystonia, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinem... OMIM:613280
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Failure to thrive, Hyperbi... ORPHA:79303
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin OMIM:618528
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Leukocytosis, Leukopenia, Ecchymosis, Shock, Purpura, Hypotension, My... ORPHA:319213
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Unconjugated hyperbilirubinemia, Increased serum ir... ORPHA:766
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Vasculitis, Lymphadenopa... OMIM:308240
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Lymphadenopathy, Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Subconjunctival hemorrhage, Arrhythmia, Retinal hemorrhage, First degree atrioventricular block, ... ORPHA:509
Megaloblastic Anemia, Folate-Responsive
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia OMIM:601775
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased body weight, Hyperbilirubinemia, Abnormal cortical bone morphology, Elevated circulatin... OMIM:614886
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Hypocholesterolemia, Hyperbilirubinemia, Rickets OMIM:607765
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Lymphadenopathy OMIM:618048
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Sea-Blue Histiocytosis
Petechiae, Splenomegaly, Hepatomegaly, Abnormal bleeding, Mediastinal lymphadenopathy, Thrombocyt... ORPHA:158029
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Abnormality of the liver, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage,... ORPHA:464321
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Hyperbilirubinemia OMIM:214950
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Neutrophilia, Anemia, Liver abscess, Abnormality of the lymph nodes,... ORPHA:54251
Acute Promyelocytic Leukemia
Pancytopenia, Bruising susceptibility, Petechiae, Leukopenia, Leukocytosis, Ecchymosis, Oral cavi... ORPHA:520
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... OMIM:607594
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Petechiae, Leukocytosis, Ecchymosis, Shock, Hypotension, Capillary le... ORPHA:340
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Tremor ORPHA:713
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy... OMIM:150550
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy, Intestinal bleeding, Neoplasm of the liver ORPHA:424019
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hemolytic anemia ORPHA:56425
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:2584
Familial Acute Necrotizing Encephalopathy
Choroid hemorrhage ORPHA:88619
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration, Small for gestational age, Tremor ORPHA:69665
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Jaundice, Lymphadenopathy ORPHA:99978
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Lymphadenopathy, Hypertension, Neoplasm of the liver ORPHA:654
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Umbilical hernia, Delayed proximal femoral epiphyseal ossification, ... ORPHA:95716
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Opisthotonus, Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormality of the peritoneum ORPHA:26790
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Hyperbilirubinemia, Hypertriglyceridemia, Elevated ... ORPHA:158057
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly, Hepatomegaly, Pericarditis ORPHA:85414
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Osteoporosis, Truncal obesity, Failure to thrive, Neonatal hyperbiliru... ORPHA:73272
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B ly... OMIM:603554
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Hyperbilirubinemia OMIM:235555
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Portal hypertension, Hepatosplenomegaly, Leukemia, L... ORPHA:98850
Hsd10 Disease
Abnormal social behavior, Microcephaly, Postnatal growth retardation, Frontotemporal cerebral atr... ORPHA:391417
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Anemia, Lymph... ORPHA:3392
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia OMIM:618892
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Conjugated hyperbilirubinemia OMIM:619484
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Thrombocytopenia ORPHA:858
Exudative Vitreoretinopathy 4
Vitreous hemorrhage OMIM:601813
Exudative Vitreoretinopathy 1
Vitreous hemorrhage, Retinal neovascularization OMIM:133780
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita OMIM:613404
Early-Onset Schizophrenia
Suicidal ideation, Lack of peer relationships, Cognitive impairment, No social interaction, Unhap... ORPHA:96369
Juvenile Xanthogranuloma
Hyphema, Myeloproliferative disorder ORPHA:158000
Refractory Anemia With Excess Blasts
Leukocytosis, Bone marrow hypocellularity, Retinal hemorrhage, Acute myeloid leukemia, Abnormal m... ORPHA:86839
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Gastrointestinal hemorrhage, Myeloproliferative disorder, Hypotension, ... ORPHA:79456
Eales Disease
Ischemic stroke, Vitreous hemorrhage, Transient ischemic attack, Peripheral retinal neovasculariz... ORPHA:40923
Immunodeficiency 54
Lymphadenopathy, Splenomegaly, Hepatomegaly, Reduced natural killer cell count OMIM:609981
Glycogen Storage Disease Vii
Increased total bilirubin, Hyperuricemia OMIM:232800
Aregenerative Anemia
Pancytopenia, Bruising susceptibility, Bone marrow hypocellularity, Decreased proportion of CD4-p... ORPHA:101096
Waldenström Macroglobulinemia
Leukemia, Normocytic anemia, Gastrointestinal hemorrhage, Congestive heart failure, Retinal hemor... ORPHA:33226
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Failure to thrive, I... OMIM:267700
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Splenomegaly, Hepatomegaly, Myocarditis, Cardiomyopathy, Ly... ORPHA:3386
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly ORPHA:391
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypertaurinemia, Hyperlysinemia, Dystonia, Hyperprolinemia, Increased serum pyruva... ORPHA:3008
Spherocytosis, Type 4
Hyperbilirubinemia OMIM:612653
Fumarase Deficiency
Failure to thrive, Hyperbilirubinemia, Reduced subcutaneous adipose tissue OMIM:606812
Boutonneuse Fever
Petechiae, Leukopenia, Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Thrombocytopenia ORPHA:83313
Bachmann-Bupp Syndrome
Large for gestational age, Hyperbilirubinemia OMIM:619075
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Failure to thrive, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:607115
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Autoimmune thrombocytopenia, Autoimmune hemolyti... ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Conjugated hyperbilirubinemia, Arthrogryposis multiplex congenita OMIM:208085
Gm2 Gangliosidosis, Ab Variant
Cerebral atrophy, Cognitive impairment, Anxiety, Inappropriate behavior, Short stature, Postnatal... ORPHA:309246
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated alpha-fetoprotein, Failure to thrive, Conjugated hyperbilirubinemia, Hyperammonemia OMIM:617049
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:83469
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Increased bone mineral density, Decreased osteoclast count, Hypocalcemia, H... OMIM:259720
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Hepatosplenomegaly, Hemophagocytosis, Neutrophilia, Pulmonary hemorrhage, Hepatomega... OMIM:619644
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Osteoporosis, Elevated circulating creatinine concentration ORPHA:232
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Peritonitis, Hepatomegaly, Vasculitis, Lymphadenopathy, Purpura ORPHA:343
Spherocytosis, Type 1
Hyperbilirubinemia OMIM:182900
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Hyperbilirubinemia, Increased total iron binding capacity ORPHA:98870
Spherocytosis, Type 2
Hyperbilirubinemia OMIM:616649
Vitreous hemorrhage, Retinal neovascularization OMIM:193220
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Hemol... OMIM:618935
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Wolcott-Rallison Syndrome
Decreased body weight, Hyponatremia, Hyperbilirubinemia, Hypoalbuminemia, Hyperammonemia ORPHA:1667
Retinal Arteries, Tortuosity Of
Retinal hemorrhage OMIM:180000
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Dopa-Responsive Dystonia
Abnormal social behavior, Anxiety, Panic attack, Emotional lability, Irritability, Depression, Ag... ORPHA:255
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Conjugated hyperbilirubinemia OMIM:601847
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Cerebral vasculitis, Neut... OMIM:613179
Graft Versus Host Disease
Lipodystrophy, Failure to thrive, Hyperbilirubinemia, Dupuytren contracture, Fasciitis ORPHA:39812
Scrub Typhus
Hypotension, Splenomegaly, Myocarditis, Lymphadenopathy, Abnormal bleeding ORPHA:83317
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Neonatal hyperbilirubinemia OMIM:609727
Drug-Induced Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90037
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:619183
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Hyperbilirubinemia OMIM:235700
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Retinal neovascularization, Macular telangiectasia ORPHA:891
Roifman Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy OMIM:616651
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of neu... ORPHA:381
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated hepatic iron concentration, Conjugated hyp... OMIM:616860
Cystic Echinococcosis
Hyperbilirubinemia, Weight loss, Bone cyst ORPHA:400
Neuroendocrine Tumor Of The Colon
Hypotension, Hepatomegaly, Chronic noninfectious lymphadenopathy, Melena, Right ventricular failu... ORPHA:100080
Mixed Connective Tissue Disease
Leukopenia, Gastrointestinal hemorrhage, Purpura, Splenomegaly, Hepatomegaly, Myocarditis, Pulmon... ORPHA:809
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia OMIM:268150
Elliptocytosis 2
Neonatal hyperbilirubinemia OMIM:130600
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Elevated pulmonary artery pressure, Lymphadenopathy, Hemothorax, Rig... ORPHA:199241
Early-Onset Autosomal Dominant Alzheimer Disease
Semantic dementia, Neurofibrillary tangles, Memory impairment, Disinhibition, Abnormal social beh... ORPHA:1020
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia OMIM:185000
Dehydrated Hereditary Stomatocytosis 2
Hyperbilirubinemia OMIM:616689
Uveal Melanoma
Vitreous hemorrhage ORPHA:39044
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia ORPHA:79302
Hereditary Amyloidosis With Primary Renal Involvement
Petechiae, Hepatosplenomegaly, Gastrointestinal hemorrhage, Congestive heart failure, Hepatomegal... ORPHA:85450
Familial Hemophagocytic Lymphohistiocytosis
Bruising susceptibility, Petechiae, Ecchymosis, Hemophagocytosis, Purpura, Splenomegaly, Hepatome... ORPHA:540
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Generalized lymphadenopathy, Hepatomegal... ORPHA:829
Roifman Syndrome
Eosinophilia, Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Anemia, Lymphadenopathy, Ab... ORPHA:1451
Hyphema, Vitreous hemorrhage, Subretinal pigment epithelium hemorrhage, Leukemia ORPHA:790
Female Restricted Epilepsy With Intellectual Disability
Anxiety, Impulsivity, Aggressive behavior, Abnormal social behavior ORPHA:101039
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Mixed-Type Autoimmune Hemolytic Anemia
Increased total bilirubin ORPHA:90036
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Hepatomegaly, Chronic noninfectious lymphadenopathy, Melena, Right ven... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Hepatomegaly, Chronic noninfectious lymphadenopathy, Melena, Right ven... ORPHA:100082
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Hepatic necrosis, Heart murmur, Right ventricular failure,... ORPHA:100093
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma total carnitine, Elevated circulating creatinine concentration, Elevated circula... OMIM:608836
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... OMIM:619662
Carney Triad
Gastrointestinal hemorrhage, Arrhythmia, Anemia, Hypertension, Lymphadenopathy, Tachycardia, Medi... ORPHA:139411
Cyclic Neutropenia
Decreased eosinophil count, Peritonitis, Cervical lymphadenopathy, Recurrent tonsillitis, Thrombo... ORPHA:2686
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:3162
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... OMIM:616100
Legionnaires Disease
Bone marrow hypocellularity, Arrhythmia, Splenomegaly, Hypotension, Jaundice, Myocarditis, Hepati... ORPHA:549
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Umbilical hernia, Delayed... ORPHA:90673
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Weight loss OMIM:613673
Felty Syndrome
Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Neutrope... ORPHA:47612
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphadenitis, Impaired neutroph... OMIM:618986
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye ORPHA:91495
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Hepatomegaly, Abnormal natural killer cell count, Neutropenia, An... ORPHA:158061
Osteopenia, Hypotriglyceridemia, Decreased HDL cholesterol concentration, Failure to thrive, Hype... ORPHA:14
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Failure to thrive, H... OMIM:603553
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Chediak-Higashi Syndrome
Bruising susceptibility, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, H... OMIM:214500
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, L... ORPHA:39041
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Abnormality of the lymph nodes, Pancreatic calcification, Jaundice ORPHA:677
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage OMIM:264420
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Portal hypertension, Hep... ORPHA:79124
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Hypercholesterolemia, Failure to thrive, Neonat... ORPHA:90674
Castleman Disease
Generalized lymphadenopathy, Jaundice, Anemia, Follicular hyperplasia, Restrictive cardiomyopathy... ORPHA:160
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Hereditary Elliptocytosis
Neonatal hyperbilirubinemia, Hyperbilirubinemia ORPHA:288
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Restrictive cardiomyop... OMIM:264800
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Pyruvate Kinase Deficiency Of Red Cells
Unconjugated hyperbilirubinemia OMIM:266200
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia, Opisthotonus ORPHA:95232
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Abnormal blood potassium concentration, Neonatal hy... ORPHA:3202
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Gastrointestinal hemorrhage, Cervical lymphadenopathy, Hepatic amyloidosis OMIM:142680
Solute carrier family 4 (anion exchanger), member 1
Hyperbilirubinemia OMIM:109270
Medullary Thyroid Carcinoma
Lymphadenopathy, Abnormal liver parenchyma morphology ORPHA:1332
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Hyphema OMIM:221900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Niemann-Pick Disease, Type A
Microcytic anemia, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundic... OMIM:257200
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Macular Degeneration, Age-Related, 1
Macular hemorrhage OMIM:603075
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Vasculitis, Increased proportion of CD4-positive T cells, Lymphadenop... OMIM:617099
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia OMIM:611773
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Cervical lymphadenopathy, Anemia, Acute monocytic leukemia, Lym... ORPHA:514
Duodenal Neuroendocrine Tumor
Arrhythmia, Increased hematocrit, Intrahepatic cholestasis with episodic jaundice, Cardiogenic sh... ORPHA:100076
Lig4 Syndrome
Pancytopenia, Leukocytosis, Hepatomegaly, Telangiectasia of the skin, Lymphadenopathy, Acute leuk... ORPHA:99812
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Vasculitis in the skin, Raynaud phenomenon, Retinal hemorrhage, Telangiectasia, Micronodular cirr... OMIM:192315
Common Variable Immunodeficiency
Abnormality of the liver, Purpura, Autoimmune thrombocytopenia, Splenomegaly, Hemolytic anemia, L... ORPHA:1572
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Auto... OMIM:606367
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:233710
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Osteoporosis, Conjugated hyperbilirubinemia, Hypoalbumi... ORPHA:186
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Small for gestational age, Slender build, Hypocalcemia, Thin bony cortex, Inguinal he... OMIM:613658
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Neoplasm of the liver, Jaundice, Extrahepa... ORPHA:1333
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level in blood OMIM:300908
Rh Deficiency Syndrome
Reduced haptoglobin level, Hyperbilirubinemia ORPHA:71275
Ileal Neuroendocrine Tumor
Arrhythmia, Cardiogenic shock, Tricuspid stenosis, Hypotension, Extrahepatic cholestasis, Pulmoni... ORPHA:100078
Jejunal Neuroendocrine Tumor
Arrhythmia, Cardiogenic shock, Tricuspid stenosis, Hypotension, Extrahepatic cholestasis, Pulmoni... ORPHA:100077
Neuroendocrine Tumor Of Stomach
Cardiogenic shock, Hypotension, Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymph... ORPHA:100075
Primary Hepatic Neuroendocrine Carcinoma
Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Neoplasm of the liver... ORPHA:100085
Hereditary Spherocytosis
Hyperbilirubinemia ORPHA:822
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:233690
Q Fever
Abnormality of the liver, Hepatosplenomegaly, Abnormal left ventricular function, Purpura, Cholec... ORPHA:781
Bronchial Neuroendocrine Tumor
Cardiogenic shock, Hypotension, Hepatomegaly, Chronic noninfectious lymphadenopathy, Right ventri... ORPHA:97287
X-Linked Lymphoproliferative Disease
Pancytopenia, Histiocytosis, Absent natural killer cells, Increased T cell count, Hepatic necrosi... ORPHA:2442
Congenital Erythropoietic Porphyria
Scarring, Increased erythrocyte protoporphyrin concentration, Osteopenia, Scarring alopecia of sc... ORPHA:79277
Autoimmune Hepatitis
Increased total bilirubin ORPHA:2137
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Sting-Associated Vasculopathy, Infantile-Onset
Raynaud phenomenon, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Anemia, Follicular ... OMIM:615934
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Dilated cardiomyopathy, Leukopenia, Portal hypertension, Hepatosplenomegaly, Leukoc... OMIM:615688
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly, Hepatomegaly, Small vessel vasculitis ORPHA:36412
Abnormal circulating cholesterol concentration, Hyperbilirubinemia, Osteoporosis OMIM:607330
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Mediastinal lymphadenopathy... ORPHA:97289
Lamb-Shaffer Syndrome
Microcephaly, Mild postnatal growth retardation, Abnormal social behavior ORPHA:530983
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy, Lymphoid leukemia ORPHA:79140
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Cardiac arrest, Myocarditis, Hepatitis, Lymphadenopathy, Lymphocytosis ORPHA:139402
Parenteral Nutrition-Associated Cholestasis
Abnormal circulating fatty-acid concentration, Hyperlipidemia, Conjugated hyperbilirubinemia, Sma... ORPHA:567983
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Lymphopenia OMIM:617591
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricosuria, Hyperuricemia, Failure to thrive, Hyperbilirubinemia, Hypophosph... OMIM:229600
Kikuchi-Fujimoto Disease
Vasculitis in the skin, Leukopenia, Splenomegaly, Cervical lymphadenopathy, Hepatomegaly, General... ORPHA:50918
Metachromatic Leukodystrophy, Adult Form
Memory impairment, Abnormal social behavior, Dementia, Emotional lability, Progressive psychomoto... ORPHA:309271
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Hepatitis, Elev... ORPHA:3261
Adenocarcinoma Of The Anal Canal
Lymphadenopathy, Intestinal bleeding, Neoplasm of the liver ORPHA:424016
Hepatocellular Carcinoma
Hypokalemia, Hyponatremia, Hypercalcemia, Hyperbilirubinemia, Hypoalbuminemia, Weight loss ORPHA:88673
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation with phytohema... OMIM:600802
Pseudoxanthoma Elasticum, Forme Fruste
Cerebral hemorrhage, Angina pectoris, Gastrointestinal hemorrhage, Retinal hemorrhage OMIM:177850
Isolated Biliary Atresia
Severe failure to thrive, Failure to thrive, Conjugated hyperbilirubinemia, Small for gestational... ORPHA:30391
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Decreased body weight, Dystonia, Intention tremor, Isometric tremor, Obesity, Overweight, Failure... OMIM:619475
Pearson Marrow-Pancreas Syndrome
Failure to thrive, Hyperbilirubinemia, Small for gestational age OMIM:557000
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Fluctuating splenomegaly, Anemia... OMIM:610377
Cranioectodermal Dysplasia 2
Inguinal hernia, Craniosynostosis, Hyperbilirubinemia OMIM:613610
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Cholecystitis, Biliary tract neoplasm, Extrahepatic cholestasis, Chron... ORPHA:100086
Phacoanaphylactic Uveitis
Hyphema, Retinal arteritis ORPHA:209959
Acute Interstitial Pneumonia
Hypertension, Reduced hematocrit, Lymphadenopathy ORPHA:79126
Chédiak-Higashi Syndrome
Pancytopenia, Bruising susceptibility, Hepatosplenomegaly, Vacuolated lymphocytes, Hemophagocytos... ORPHA:167
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Progressive psychomotor deterioration, Punctate periventricular T2 hyperinten... ORPHA:309263
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Neutrophilia, Splenomegaly, Lymphadenopathy OMIM:260920
Pseudoxanthoma Elasticum
Bruising susceptibility, Gastrointestinal hemorrhage, Retinal hemorrhage, Sudden cardiac death, T... ORPHA:758
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Unconjugated hyperbilirubinemia, Dystonia OMIM:618278
Caroli Disease
Weight loss, Conjugated hyperbilirubinemia ORPHA:53035
Agammaglobulinemia, X-Linked
T lymphocytopenia, Neutropenia, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Lymph node h... OMIM:300755
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Retinal neovascularization ORPHA:411527
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypocalcemia, Hyperbilirubinemia ORPHA:163979
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Leukopenia, Lymphopenia, Lymphadenopathy, Microangiopathic hemolytic anemia, ... ORPHA:93552
Biliary Malformation With Renal Tubular Insufficiency
Failure to thrive, Conjugated hyperbilirubinemia OMIM:210550
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Accessory... OMIM:619418
Degcags Syndrome
Hiatus hernia, Craniosynostosis, Osteopenia, Small for gestational age, Failure to thrive, Hyperb... OMIM:619488
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Histiocytosis, Pancreatic hypoplasia, Splenomegaly, Hepatomegaly, Cervical ly... OMIM:602782
Caroli Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:480520
Abnormal hippocampus morphology, Aggressive behavior, Apathy, Small basal ganglia, Depression, Ha... ORPHA:2388
48,Xxxy Syndrome
Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior, Anxiety, Obesity, I... ORPHA:96263
Vitreous hemorrhage, Leukemia OMIM:180200
Childhood Absence Epilepsy
Anxiety, Depression, Low self esteem, Abnormal social behavior ORPHA:64280
Hardikar Syndrome
Umbilical hernia, Failure to thrive, Hyperbilirubinemia, Osteoporosis OMIM:301068
Prader-Willi Syndrome Due To Translocation
Impaired social interactions, Happy demeanor, Intrauterine growth retardation, Anterior pituitary... ORPHA:177907
Malt Lymphoma
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Reynolds Syndrome
Calcinosis, Hyperbilirubinemia OMIM:613471
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Hyponatremia, Elevated circulating creatinine conce... ORPHA:90038
Hypothyroidism, Congenital, Nongoitrous, 2
Umbilical hernia, Hyperbilirubinemia OMIM:218700
Lethal Congenital Contracture Syndrome 5
Retinal hemorrhage OMIM:615368
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Portal fibrosis, Pancreatitis, Intracranial hemorrhage, T... ORPHA:3260
Rift Valley Fever
Retinal hemorrhage, Gingival bleeding, Jaundice, Anemia, Hematemesis, Hepatitis, Abnormal bleedin... ORPHA:319251
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Hyperbilirubinemia ORPHA:562639
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Early ossification of capital femoral epiphyses, Conjugated hyperbilirubinemia OMIM:208500
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver abscess, Impair... OMIM:306400
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Purpura, Autoimmune thrombocytopenia, Neutropenia, Lymphadenopathy, Raynaud ph... OMIM:607944
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Bruising susceptibility, Leukocytosis, Peritonitis, Splenomegaly, Vasculitis, Lymphadenopathy, Pe... ORPHA:32960
Familial Mediterranean Fever
Arrhythmia, Peritonitis, Splenomegaly, Myocardial infarction, Vasculitis, Lymphadenopathy, Pancre... ORPHA:342
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Histiocytosis, Abnormal cardiovascular system physiology, ... ORPHA:168569
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia ORPHA:168577
Fg Syndrome Type 1
Small pituitary gland, Abnormal social behavior, Aplasia/Hypoplasia of the corpus callosum, Slend... ORPHA:93932
Niemann-Pick Disease Type C
Cerebral atrophy, Low frustration tolerance, Cognitive impairment, Abnormal social behavior, Disi... ORPHA:646
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Punctate periventricular T2 hyperintense foci, Abnormal social behavior ORPHA:309256
X-Linked Intellectual Disability, Nascimento Type
Neonatal hyperbilirubinemia ORPHA:163956
Poems Syndrome
Thrombocytosis, Pulmonary arterial hypertension, Lymphadenopathy, Polycythemia ORPHA:2905
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Osteopenia, Elevated circulating creatinine concent... OMIM:619534
Granulomatosis With Polyangiitis
Localized pulmonary hemorrhage, Granulomatosis, Diffuse alveolar hemorrhage, Retinal hemorrhage OMIM:608710
Thymic Aplasia
T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Atypi... ORPHA:83471
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hyphema, Aortic valve stenosis, Asplenia, Pulmonic stenosis ORPHA:261552
Farber Disease
Hepatosplenomegaly, Intrahepatic cholestasis with episodic jaundice, Anemia, Lymphadenopathy, Hep... ORPHA:333
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenitis, Decreased proportion of CD3-positive... ORPHA:331235
Familial Drusen
Macular hemorrhage ORPHA:75376
Senior-Boichis Syndrome
Increased total bilirubin ORPHA:84081
Lymphatic Filariasis
Hypereosinophilia, Lymphadenitis, Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic... ORPHA:2035
Abnormality of the liver, Leukopenia, Leukocytosis, Thrombocytosis, Purpura, Splenomegaly, Hepato... ORPHA:1304
Behçet Disease
Gastrointestinal hemorrhage, Aortic regurgitation, Pulmonary embolism, Splenomegaly, Myocardial i... ORPHA:117
Tangier Disease
Hepatosplenomegaly, Orange discolored tonsils, Anemia, Chronic noninfectious lymphadenopathy, Thr... ORPHA:31150
Petechiae, Gingival bleeding, Cervical lymphadenopathy, Lymphadenopathy, Raynaud phenomenon, Abno... ORPHA:324625
Mend Syndrome
Hydrocephalus, Abnormal social behavior, Aggressive behavior, Failure to thrive, Short stature, H... ORPHA:401973
Eosinophilia, Vasospasm, Abnormality of the liver, Peritonitis, Vasculitis, Abnormality of the sp... ORPHA:228123
Koolen-De Vries Syndrome Due To A Point Mutation
Hypoplasia of the corpus callosum, Pineal cyst, Agenesis of corpus callosum, Small for gestationa... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Pineal cyst, Agenesis of corpus callosum, Small for gestationa... ORPHA:363958
Gastrointestinal hemorrhage, Abnormality of the lymphatic system, Lymphadenopathy, Pulmonary lymp... ORPHA:538
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Autoimmune hemol... ORPHA:37042
Cockayne Syndrome Type 3
Retinal hemorrhage, Splenomegaly, Hepatomegaly, Subdural hemorrhage, Cardiomyopathy, Increased bl... ORPHA:90324
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Memory impairment, Abnormal social behavior, Hypoplastic hippocampus,... ORPHA:314647
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Abnormal social behavior, Hyperintensity of cerebral white matter on MRI, Abnor... ORPHA:1675
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Hypotension, Hepatomegaly, Chronic noninfectious lymphadenopathy, Heart murmu... ORPHA:100079
Yellow Fever
Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Elevated circulating crea... ORPHA:99829
Tuberous Sclerosis Complex
Cortical tubers, Abnormal social behavior, Self-injurious behavior, Anxiety, Aggressive behavior,... ORPHA:805
Multiple Myeloma
Anemia, Splenomegaly, Lymphadenopathy ORPHA:29073
Incontinentia Pigmenti
Eosinophilia, Retinal hemorrhage, Congestive heart failure, Telangiectasia of the skin, Pulmonary... ORPHA:464
Submandibular lymph node enlargement OMIM:118400
Autosomal Recessive Malignant Osteopetrosis
Bruising susceptibility, Splenomegaly, Hepatomegaly, Pulmonary arterial hypertension, Anemia, Lym... ORPHA:667
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hepatic steatosis, Cholestasis, Autoimmune hemolytic anemia, Decreased CD... OMIM:619573
Primary Sjögren Syndrome
Raynaud phenomenon, Biliary cirrhosis, Leukopenia, Normocytic anemia, Purpura, Chronic hepatitis,... ORPHA:289390
Kawasaki Disease
Leukocytosis, Arrhythmia, Congestive heart failure, Cholecystitis, Myocarditis, Cervical lymphade... ORPHA:2331
Tubulointerstitial Nephritis And Uveitis Syndrome
Normochromic anemia, Vitreous hemorrhage, Reduced hematocrit, Normocytic anemia ORPHA:91500
Follicular hyperplasia, Abnormal bleeding ORPHA:556
Igg4-Related Submandibular Gland Disease
Eosinophilia, Cholangitis, Abnormal pancreas morphology, Retroperitoneal fibrosis, Lymphadenopathy ORPHA:449432
Eosinophilia, Leukopenia, Portal hypertension, Arrhythmia, Increased T cell count, Ventricular ta... ORPHA:797
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia, Enamel hypoplasia OMIM:300896
Incontinentia Pigmenti
Eosinophilia, Leukocytosis, Retinal hemorrhage OMIM:308300
Igg4-Related Kidney Disease
Eosinophilia, Sclerosing cholangitis, Lymphadenitis, Cholecystitis, Arteritis, Retroperitoneal fi... ORPHA:449395
Hennekam Syndrome
Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphopenia ORPHA:2136
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Subretinal pigment epithelium hemorrhage ORPHA:357074
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Decreased serum iron, Unconjugated hyperbilirubinemia, Increased blood... ORPHA:447
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hypoplasia of the corpus callosum, Primary microcephaly, Irritability, Secondary microcephaly, Ha... ORPHA:447997
Blau Syndrome
Abnormality of the liver, Splenomegaly, Pulmonary arterial hypertension, Anemia, Hypertension, Ly... ORPHA:90340
Cockayne Syndrome
Hypertension, Splenomegaly, Hepatomegaly, Retinal hemorrhage ORPHA:191
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Splenomegaly, Hepatomegaly, Generalized lymphadenopathy, Pulmonary arterial hyperte... OMIM:181000
Cushing Syndrome Due To Ectopic Acth Secretion
Bruising susceptibility, Capillary fragility, Leukocytosis, Ecchymosis, Decreased eosinophil coun... ORPHA:99889
Lymphadenitis, Arrhythmia, Splenomegaly, Hepatomegaly, Hypotension, Enlarged mesenteric lymph nod... ORPHA:707
Immunodeficiency 82 With Systemic Inflammation
Vasculitis in the skin, T lymphocytopenia, Decreased proportion of naive T cells, Splenomegaly, A... OMIM:619381
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Arrhythmia, Congestive heart failure, Splenomegaly, Hepatomegaly, Lymphadenopa... OMIM:256040
Retinal hemorrhage ORPHA:863
African Trypanosomiasis
Second degree atrioventricular block, Hepatosplenomegaly, Arrhythmia, Congestive heart failure, A... ORPHA:3385
Hair-pulling OMIM:613229
Igg4-Related Ophthalmic Disease
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Lymphadenopathy, Pancreatitis ORPHA:449563
Monosomy 22Q13.3
Hair-pulling, Obesity, Agenesis of corpus callosum ORPHA:48652
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Thrombocytopenia, Lymphadenopathy ORPHA:79078
Pierson Syndrome
Hypertension, Retinal hemorrhage OMIM:609049
Williams Syndrome
Abnormality of the diencephalon, Failure to thrive in infancy, Abnormal social behavior, Anxiety,... ORPHA:904
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Retinal hemorrhage, Pulmonary arterial hypertension, Pancr... ORPHA:51608


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 Csmd3

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 Csmd3.

No publications found that use IMPC mice or data for Csmd3.

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MGI Allele Allele Type Produced
Csmd3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Csmd3em1(IMPC)Mbp Exon Deletion Mice, Tissue

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