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Gene: Rhag MGI:1202713

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Gene Summary

Name:
Rhesus blood group-associated A glycoprotein
Synonyms:
Rh50,  Rh50A,  CD241

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal testis morphology Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged lymph nodes Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
decreased mean corpuscular hemoglobin Rhagem1(IMPC)Ccpcz HOM Early adult 5.81×10-08
abnormal lymph node morphology Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
increased circulating total protein level Rhagem1(IMPC)Ccpcz HOM Early adult 6.98×10-06
abnormal thymus morphology Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
small testis Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Rhagem1(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Skull Lateral Orientation

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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Human diseases caused by Rhag 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 Rhag by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased mean corpuscular volume,... OMIM:185000
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... ORPHA:158048
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... ORPHA:29073
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin conc... ORPHA:90041
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Cholelithi... ORPHA:846
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad... ORPHA:444463
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... OMIM:603552
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, I... OMIM:603553
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... ORPHA:100083
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... OMIM:613101
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Abnormality of the lymphatic... ORPHA:54251
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre... OMIM:235200
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia ORPHA:100025
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestina... OMIM:226300
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Pericardial effusion, Abnormal lymphatic vessel morphology, Hypoalbuminemia, Hyp... ORPHA:90362
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Le... OMIM:615895
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis... ORPHA:1655
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... OMIM:235255
Burkitt Lymphoma
Abnormality of the spleen, Abnormal lymph node morphology, Hyperuricemia, Decreased proportion of... ORPHA:543
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... ORPHA:319487
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Leptospirosis
Hepatomegaly, Pericarditis, Lymphadenopathy, Hyperproteinemia, Thrombocytopenia ORPHA:509
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... ORPHA:97290
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... OMIM:212050
Johanson-Blizzard Syndrome
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Abnormal vagina morphology, Ab... ORPHA:2315
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:618261
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly OMIM:613977
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenit... OMIM:618886
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... OMIM:241600
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia, Congenital hypothyroidism ORPHA:88643
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, ... OMIM:614034
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:611762
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc... ORPHA:457083
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... ORPHA:481
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Mediastinal lymphadenopathy, Lymphad... ORPHA:83469
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... ORPHA:507
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... OMIM:620282
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy OMIM:618982
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy ORPHA:79292
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia, Hepatomegaly ORPHA:99828
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,... OMIM:618838
Granulomatous Slack Skin
Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Pericardial effu... ORPHA:167
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Congenital Disorder Of Glycosylation, Type Ij
Cryptorchidism, Hypoproteinemia OMIM:608093
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ... ORPHA:85414
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes OMIM:269920
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center OMIM:608184
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... OMIM:607115
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Pri... OMIM:603903
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration OMIM:313200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase co... ORPHA:26793
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabet... ORPHA:231222
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:158061
Citrullinemia Type Ii
Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia... ORPHA:247585
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... OMIM:300946
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Decreased HDL cholesterol concentration, Primary testicular failu... ORPHA:85450
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic... OMIM:609981
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Lymphadenopathy, Hemophagocytosis, Neut... ORPHA:79477
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... OMIM:613179
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Cardiomegaly,... ORPHA:465508
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypothyroidism, Hypoalbuminemia OMIM:256300
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Microcytic anemia, Lymphadenopathy, Hepato... OMIM:619750
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:603909
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... ORPHA:85451
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per... OMIM:612561
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... ORPHA:824
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet cell adenoma... ORPHA:97289
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia, Lymphadenopathy ORPHA:69077
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia ORPHA:397596
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... ORPHA:3392
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... OMIM:256550
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-rea... ORPHA:829
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... ORPHA:231214
Castleman Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy... ORPHA:160
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron... OMIM:619991
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Attrv30M Amyloidosis
Cardiomyopathy, Impotence, Cardiomegaly ORPHA:85447
Wolfram Syndrome 1
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism... OMIM:222300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Roifman Syndrome
Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Hepat... ORPHA:353298
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, Ly... ORPHA:99812
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy, Cardiomegaly OMIM:252920
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Lymphadenopath... OMIM:619644
Roifman Syndrome
Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Splenomegaly... OMIM:616651
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ... OMIM:602782
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, Abnormal ly... ORPHA:39041
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukopenia, Bone marrow ... ORPHA:381
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Thyroid Lymphoma
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell... ORPHA:276
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ... OMIM:618048
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly,... ORPHA:98850
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hepatomegaly, Hyperprolinemia, Cardiomegaly OMIM:619064
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocell... ORPHA:47612
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... OMIM:212140
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Elevated circulating calcitonin c... ORPHA:1332
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosple... OMIM:618935
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... OMIM:257200
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... ORPHA:324410
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Lymphadenopathy, Anemia, Coombs-positive hemolytic ane... OMIM:304790
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... ORPHA:540
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:614702
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:619051
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy ORPHA:3386
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... ORPHA:169154
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Lymphoc... ORPHA:514
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly ORPHA:99931
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, HbH hemoglobin, Hypospadias, Microcytic anemia ORPHA:98791
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... ORPHA:31150
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor ORPHA:100084
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... ORPHA:79126
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
H Syndrome
Diabetes mellitus, Hypertriglyceridemia, Microcytic anemia, Amenorrhea, Lymphadenopathy, Hepatosp... ORPHA:168569
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Agammaglobulinemia, X-Linked
Epididymitis, Cor pulmonale, Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutrop... OMIM:300755
Mevalonic Aciduria
Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu... OMIM:610377
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Mogs-Cdg
Atrial septal defect, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly... ORPHA:79330
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Pancreatoblastoma
Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology ORPHA:677
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect, Increased size of n... OMIM:619769
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy ORPHA:142
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocy... OMIM:617591
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... ORPHA:57777
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly ORPHA:615
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Pericardial effusion, Pri... ORPHA:2905
Boutonneuse Fever
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy ORPHA:83313
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Cyclic Neutropenia
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy, Decreased e... ORPHA:2686
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... ORPHA:50918
Legionnaires Disease
Hyponatremia, Pericarditis, Splenomegaly, Myocarditis, Endocarditis, Lymphadenopathy, Bone marrow... ORPHA:549
Lymphatic Filariasis
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Epididymitis, Va... ORPHA:2035
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... ORPHA:42
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Hypocalcemia, Tetralogy of Fallot, Paten... OMIM:601005
Mulibrey Nanism
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly OMIM:253250
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Small intestine carcinoid, Abno... ORPHA:100093
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutrope... ORPHA:520
Scrub Typhus
Myocarditis, Splenomegaly, Lymphadenopathy ORPHA:83317
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... OMIM:614700
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly OMIM:617022
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Lead Poisoning
Decreased HDL cholesterol concentration, Decreased female libido, Abnormality of the menstrual cy... ORPHA:330015
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... OMIM:617099
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Myeloproliferative disorder, Lymphocytosis ORPHA:79456
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocardi... ORPHA:809
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... OMIM:306955
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk... ORPHA:32960
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Lymphadenopathy ORPHA:36412
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thr... ORPHA:79124
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... OMIM:214500
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Increased T cell count, Absent peripheral lymph nodes in presence of infection, ... ORPHA:98813
Papa Syndrome
Type I diabetes mellitus, Lymphadenopathy ORPHA:69126
Sandhoff Disease
Hepatomegaly, Impotence, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... OMIM:201475
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr... OMIM:617052
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph... OMIM:615934
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... OMIM:615688
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym... ORPHA:83471
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Hyperthyroidism, Autoimmune thrombocytopenia, Abnormality of the end... ORPHA:37042
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In... ORPHA:100080
Carney Triad
Mediastinal lymphadenopathy, Adrenal overactivity, Lymphadenopathy, Adrenocortical adenoma, Pheoc... ORPHA:139411
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ... ORPHA:781
Klatskin Tumor
Hepatomegaly, Lymphadenopathy ORPHA:99978
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Refsum Disease, Classic
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly OMIM:266500
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy OMIM:616897
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer ORPHA:79140
Nephroblastoma
Lymphadenopathy ORPHA:654
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... OMIM:617718
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly ORPHA:391428
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Myocarditis, Thyroiditis, Lymphadenopathy, Lymphocytosis ORPHA:139402
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy ORPHA:33276
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia... ORPHA:93552
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:608013
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Malt Lymphoma
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... ORPHA:97287
Brucellosis
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Hypersplenism,... ORPHA:1304
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Ventricular septal defect, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypoc... OMIM:301040
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Ventricular septal defect, Pure red cell aplasia, Erythroid ... ORPHA:124
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Splenomegaly, Pr... OMIM:619418
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... ORPHA:3261
Lesch-Nyhan Syndrome
Testicular atrophy, Hyperuricemia, Megaloblastic anemia OMIM:300322
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis OMIM:233710
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Glandular hypospadias, Abnormal circulating ceruloplas... OMIM:620306
Abetalipoproteinemia
Reticulocytosis, Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Acanthocyto... ORPHA:14
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:608836
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis OMIM:233690
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In... ORPHA:100082
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab... ORPHA:3384
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hypoplasia of penis, Ambiguous genitalia, Abnormal hemoglobin, Cryptorchidism, Male pseudohermaph... ORPHA:847
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:228308
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In... ORPHA:100075
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy ORPHA:343
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Diabetes insipidus ORPHA:423479
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia ORPHA:33226
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia ORPHA:1572
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Lymphadenopathy, Hepatosplenomegaly, Ovarian carcinoma ORPHA:1333
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Persistence of hemoglobi... OMIM:260400
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Prostate neoplasm, Leuke... ORPHA:99867
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Graft Versus Host Disease
Hemophagocytosis, Lymphadenopathy, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Elevated c... OMIM:614921
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Mitral valve prolapse, Hilar lymph node ... OMIM:620233
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating alpha-fetoprotein conce... ORPHA:100085
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia ORPHA:293173
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Parotitis, Elevated ... OMIM:256040
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy OMIM:142680
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Pericarditis, Elevated circulating creatine kinase concentration, H... ORPHA:99826
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... ORPHA:96191
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Impotence, Cardiomegaly OMIM:105210
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Cardiomegaly OMIM:618143
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Pulmonic ... ORPHA:100078
Igg4-Related Submandibular Gland Disease
Eosinophilia, Abnormality of the thyroid gland, Prostatitis, Enlarged lacrimal glands, Abnormal p... ORPHA:449432
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Hypocalcemia, H... ORPHA:667
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc... OMIM:130650
Fucosidosis
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiomegaly OMIM:230000
Farber Disease
Thrombocytopenia, Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:333
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased mean corpuscular volume,... OMIM:185000
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:308552
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentration, Ca... ORPHA:116
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Pericardial effusion, ... OMIM:615846
Familial Mediterranean Fever
Orchitis, Splenomegaly, Pericarditis, Lymphadenopathy ORPHA:342
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomatosis OMIM:306400
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... OMIM:619381
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Cardiomegaly ORPHA:2463
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Fucosidosis
Hepatomegaly, Hypothyroidism, Cardiomegaly ORPHA:349
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Maternal diabetes, Cardiomegaly, Secundum atrial ... OMIM:300855
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Hypoproteinemia, Rectocele, Anemia ORPHA:2929
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Igg4-Related Ophthalmic Disease
Eosinophilia, Elevated circulating C-reactive protein concentration, Orchitis, Abnormality of the... ORPHA:449563
Hennekam Syndrome
Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Hypocalcemia, Ly... ORPHA:2136
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... ORPHA:331235
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Abnormal aortic val... ORPHA:581
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Pancytopenia, Neutrophilia, Parotitis, Elevated circulating creatine kinase concent... ORPHA:99827
Pierson Syndrome
Hypoproteinemia OMIM:609049
Malakoplakia
Orchitis, Prostate neoplasm, Abnormality of the menstrual cycle, Follicular hyperplasia ORPHA:556
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Hypoth... OMIM:607944
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Hypertrophic cardi... OMIM:252500
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Chronic noninfectious lymphadenopathy, Tricuspid stenosis, Adrenocorticotropic horm... ORPHA:100079
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Abnormal morphology of fe... ORPHA:538
Coccidioidomycosis
Abnormal sperm morphology, Pericarditis, Eosinophilia, Abnormality of the endocrine system, Abnor... ORPHA:228123
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Hyperthyroidism, Parotitis, Eosinophilia, Diabetes insipidus, Hyp... ORPHA:797
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... OMIM:245600
Igg4-Related Kidney Disease
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis,... ORPHA:449395
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Neutrophilia, Eosinophilia, Splenomegaly, Cervical lymphadenopathy, ... ORPHA:3260
Behçet Disease
Pericarditis, Orchitis, Splenomegaly, Endocarditis, Lymphadenopathy, Abnormal myocardium morphology ORPHA:117
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly OMIM:208000
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly OMIM:619259
Aicardi-Goutières Syndrome
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia... ORPHA:51
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... ORPHA:744
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Cervical neoplasm, Hypercalcemia, Thyroid C cell hyperplasia, Cer... ORPHA:653
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Cervical lymphadenopath... ORPHA:2331
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi... OMIM:181000
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, Nodular goi... ORPHA:79078
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries ORPHA:137675
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Parotitis, Thyroiditis, Lymphadenopathy, Leukopenia, Normochr... ORPHA:289390
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy ORPHA:536
Trichohepatoenteric Syndrome 1
Decreased circulating antibody level, Increased serum iron, Hypoalbuminemia, Hypermethioninemia, ... OMIM:222470
Blau Syndrome
Pericarditis, Splenomegaly, Lymphadenopathy, Abnormal salivary gland morphology, Anemia ORPHA:90340
Cherubism
Submandibular lymph node enlargement OMIM:118400
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy ORPHA:100086
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... ORPHA:365
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa... ORPHA:309854
Yunis-Varon Syndrome
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... ORPHA:3472
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... ORPHA:904
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... ORPHA:1677
African Trypanosomiasis
Hepatomegaly, Pericarditis, Abnormality of the menstrual cycle, Abnormality of the endocrine syst... ORPHA:3385
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Syndromic Diarrhea
Panhypogammaglobulinemia, Abnormality of iron homeostasis ORPHA:84064
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Plague
Hepatomegaly, Splenomegaly, Lymphadenitis, Endocarditis, Enlarged mesenteric lymph node ORPHA:707
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Adrenal calcification, Cardiomegaly, Pericardial effusion, Myocardial ca... ORPHA:51608
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250

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 Rhag

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 Rhag.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rhagtm44734(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Rhagtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Rhagem1(IMPC)Ccpcz Inter-exon deletion Mice, Tissue
Rhagtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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