Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating total protein level Rhagem1(IMPC)Ccpcz HOM Early adult 6.31×10-06
small testis 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 5.76×10-08
abnormal testis morphology Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Rhagem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lymph node morphology 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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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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.

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
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:312500
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Omenn Syndrome
B lymphocytopenia, Hypoproteinemia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anem... OMIM:603554
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin... ORPHA:158048
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Lymphadenopathy, Elevated circulating creatinine concentration, ... ORPHA:29073
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin ORPHA:3319
Ethanolaminosis
Cardiomegaly OMIM:227150
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Leukopenia,... OMIM:267700
Alpha-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency, Hypocalcemia ORPHA:100025
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoim... ORPHA:444463
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypo... ORPHA:848
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase conce... OMIM:615895
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... OMIM:603552
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Gaisböck Syndrome
Hyperproteinemia, Increased red blood cell count, Increased circulating renin level, Hyperuricemi... ORPHA:90041
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia OMIM:207731
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Inappropriate antidiuretic hormone secretion, Increased serum serotonin,... ORPHA:100083
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Hypophosphatemia, ... ORPHA:398063
Kerion Celsi
Lymphadenopathy ORPHA:499
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatospleno... OMIM:613101
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Neutrophilia, Abnorm... ORPHA:54251
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Increased total... OMIM:603553
Bone Marrow Failure Syndrome 5
Testicular atrophy, Anemia, Pure red cell aplasia, Hypogonadism OMIM:618165
Kimura Disease
Abnormal salivary gland morphology, Eosinophilia, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Hemochromatosis, Type 1
Testicular atrophy, Increased serum iron, Hepatomegaly, Amenorrhea, Azoospermia, Hypogonadotropic... OMIM:235200
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Hyperuricemi... ORPHA:543
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Thyroid lym... OMIM:235255
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Splenomegal... ORPHA:1655
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Genital ulcers, Absent tonsils, Lymph node hypoplasia OMIM:602450
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Pericardial effusion, Abnormal lymphatic vessel morphology, Anemia, Hypocalcemia... ORPHA:90362
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Follicular t... ORPHA:319487
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... OMIM:617514
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Spontaneous abortion, Abnormality of the lymph nodes OMIM:136580
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Chronic noni... ORPHA:97290
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Congenital Toxoplasmosis
Hepatomegaly, Lymphadenopathy, Anemia, Cardiomegaly, Thrombocytopenia ORPHA:858
Leptospirosis
Hepatomegaly, Hyperproteinemia, Pericarditis, Lymphadenopathy, Thrombocytopenia ORPHA:509
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Johanson-Blizzard Syndrome
Hypospadias, Dextrocardia, Abnormal vagina morphology, Hypoproteinemia, Anemia, Abnormality of th... ORPHA:2315
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Increased ... OMIM:613011
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Neutropenia, Hypoalbuminemia OMIM:600351
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Methemoglobinemia, Anemia OMIM:613977
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Epididymitis OMIM:608106
Candidiasis, Familial, 2
Lymphadenopathy, Hypereosinophilia, Decreased serum iron OMIM:212050
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism, Hypoalbuminemia ORPHA:88643
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, Co... OMIM:614034
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Increased circulating ferritin concentration, ... OMIM:618886
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... ORPHA:457083
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Lymphoproliferative Syndrome 3
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Abnormal circulating lipid concentration, Erectile... ORPHA:481
Rosaï-Dorfman Disease
Lymphadenopathy, Anemia ORPHA:158014
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Bifid scrotum, Methemoglobinemia, Micropenis, Ambiguous genitalia, Male pseudohermap... OMIM:250790
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly OMIM:611762
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Thrombocytosis, Hypoproteinemia, Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia OMIM:226300
Granulomatous Slack Skin
Hypercalcemia, Abnormality of the lymph nodes ORPHA:33111
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Cryptorchidism OMIM:608093
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pan... ORPHA:83469
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy OMIM:618982
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration, Decreased circulating c... OMIM:618838
Dengue Fever
Hypoproteinemia, Thrombocytopenia, Hepatomegaly, Leukopenia ORPHA:99828
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Lymphadenopathy, Splenomegaly, Elevated circulating C-reactive protei... ORPHA:85414
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly ORPHA:79292
Gracile Syndrome
Increased serum iron, Increased circulating ferritin concentration, Increased serum pyruvate OMIM:603358
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Hyponatremia, Hypoproteinemia, Neutropenia, Thrombocytop... ORPHA:167
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia, Elevated circulating C-r... OMIM:607115
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly ORPHA:37748
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Beta-Thalassemia Intermedia
Leukocytosis, Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasis, Hepatom... ORPHA:231222
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia OMIM:608184
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Isolated Anencephaly
Adrenal hypoplasia, Maternal diabetes, Thymus hyperplasia ORPHA:563609
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Infertility, Amenorrhea, Hypog... ORPHA:465508
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... ORPHA:158061
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... OMIM:617713
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Elevated circulating creatine kinase concentration, Decreased fertility OMIM:313200
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Immunodeficiency 55
Lymphadenopathy, Neutropenia OMIM:617827
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Ménétrier Disease
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia ORPHA:2494
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hyperlipidemia, Hyperchol... ORPHA:247585
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Pericardial eff... ORPHA:26793
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Immunodeficiency 54
Hepatomegaly, Adrenal insufficiency, Lymphadenopathy, Splenomegaly, Reduced natural killer cell c... OMIM:609981
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypothyroidism, Hypoalbuminemia OMIM:256300
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Elevated ci... ORPHA:85450
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Hyperlipidemia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophago... ORPHA:79477
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Priapism, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red c... OMIM:603903
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Increa... OMIM:613179
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Intermittent thrombocyto... OMIM:150550
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Thymic Neuroendocrine Tumor
Neuroendocrine neoplasm, Hypercalcemia, Mediastinal lymphadenopathy, Neoplasm of the thymus, Incr... ORPHA:97289
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Lymphopenia, T lymphocytopenia, Absence of lymph node germinal... ORPHA:277
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia OMIM:618048
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:240500
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... OMIM:612561
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocyt... OMIM:308240
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatomegaly, Adrenal insufficiency, Anisopoikilocytosis, Hypoparathyroid... ORPHA:231214
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Anemia, Cardiomegal... ORPHA:85451
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Adrenal insufficiency, Hypoparathyroidism, Abnormality of iron homeostasi... ORPHA:231226
Rhabdoid Tumor
Lymphadenopathy, Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Roifman Syndrome
Noncompaction cardiomyopathy, Lymphadenopathy, Hypogonadotropic hypogonadism, Hepatosplenomegaly,... ORPHA:353298
Lymphoproliferative Syndrome 2
Hepatomegaly, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic anemia, H... OMIM:615122
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Abnormal circulating lipid concentration, ... ORPHA:829
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Spontaneous abortion, Hypercholesterolemia, Hypoalbuminemia, Inc... ORPHA:86816
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy, Sideroblastic anemi... OMIM:222300
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Bone-marrow foam cells, Cardiomyopathy, Splen... OMIM:256550
Lig4 Syndrome
Leukocytosis, Hepatomegaly, Type II diabetes mellitus, Acute leukemia, Lymphadenopathy, Hypothyro... ORPHA:99812
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Castleman Disease
Mediastinal lymphadenopathy, Lymphadenopathy, Restrictive cardiomyopathy, Anemia, Generalized lym... ORPHA:160
Thyroid Lymphoma
Goiter, Lymphadenopathy, Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis ORPHA:97285
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... ORPHA:100026
Tularemia
Leukocytosis, Mediastinal lymphadenopathy, Thrombocytopenia, Lymphadenopathy, Anemia, Cervical ly... ORPHA:3392
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated transferr... ORPHA:79230
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... OMIM:600649
Roifman Syndrome
Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Lymphadenopathy, Splenomeg... OMIM:616651
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenopathy, Lymphadenitis, Absence of CD8-positive T cells, Abnormality of the lymph nodes, ... ORPHA:911
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, E... OMIM:619644
Agammaglobulinemia, X-Linked
Cor pulmonale, Lymph node hypoplasia, Epididymitis, Prostatitis OMIM:300755
Omenn Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... ORPHA:39041
Cinca Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Immunodeficiency 10
Lymphadenopathy, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:612783
Classic Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Pancreatic hypoplasia, Mitral valve prolapse, Azoospermi... OMIM:602782
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252920
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Hypothyroidism, Hypocalcemia, Paten... OMIM:601005
Griscelli Syndrome
Hepatomegaly, Leukopenia, Lymphadenopathy, Abnormal circulating lipid concentration, Bone marrow ... ORPHA:381
Hemochromatosis, Neonatal
Increased serum iron, Increased circulating ferritin concentration, Abnormality of iron homeostasis OMIM:231100
Medullary Thyroid Carcinoma
Lymphadenopathy, Nodular goiter, Medullary thyroid carcinoma, Primary hyperparathyroidism, Elevat... ORPHA:1332
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia OMIM:619170
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... ORPHA:276
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Impotence ORPHA:85447
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta OMIM:617022
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hyperammonem... OMIM:212140
Felty Syndrome
Hepatomegaly, Neutropenia, Pericarditis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia,... ORPHA:47612
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Anemia, Abnormal mast cel... ORPHA:98850
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concent... OMIM:300257
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... OMIM:616100
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperprolinemia, Hepatomegaly, Cardiomegaly, Hyperalaninemia OMIM:619064
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Anemia, Autoimmune thrombocytopen... OMIM:304790
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:619183
Hemochromatosis, Type 2B
Increased serum iron, Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:613313
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired oxidative burst, Lymph... OMIM:618935
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Maternal diabetes, Biventricular hypertrophy, Abnormal m... ORPHA:860
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morphology, ... ORPHA:324410
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... ORPHA:540
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... ORPHA:101096
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Central hypothyroidism, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic ... ORPHA:514
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Ovarian neoplasm ORPHA:2221
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Hypospadias, HbH hemoglobin, Microcytic anemia, Cryptorchidism ORPHA:98791
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor ORPHA:100084
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytos... OMIM:618278
Pancreatoblastoma
Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormality of the lymph nodes ORPHA:677
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Lymphadenopathy, Decreased proportion of CD4+CD25+ regulator... OMIM:606367
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, L... ORPHA:169154
Poems Syndrome
Thrombocytosis, Pericardial effusion, Polycythemia, Lymphadenopathy, Abnormality of the endocrine... ORPHA:2905
Idiopathic Pulmonary Hemosiderosis
Iron deficiency anemia, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly ORPHA:99931
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Lymphadenopathy OMIM:617718
Acute Interstitial Pneumonia
Reduced hematocrit, Pericardial effusion, Lymphadenopathy, Elevated circulating creatinine concen... ORPHA:79126
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly, Hyperalaninemia, Hyperammonemia OMIM:619051
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Tangier Disease
Orange discolored tonsils, Coronary artery stenosis, Hypocholesterolemia, Anemia, Left ventricula... ORPHA:31150
H Syndrome
Amenorrhea, Azoospermia, Lymphadenopathy, Hypogonadism, Micropenis, Hepatosplenomegaly, Microcyti... ORPHA:168569
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Asplenia, Mitral atresia, Double outlet right ventricle,... OMIM:306955
Mogs-Cdg
Hepatomegaly, Inappropriate antidiuretic hormone secretion, External genital hypoplasia, Cardiome... ORPHA:79330
Glycogen Storage Disease Ii
Elevated circulating creatine kinase concentration, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Sézary Syndrome
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter, Goiter ORPHA:142
Lymphatic Filariasis
Lymphangiectasis, Vaginal hydrocele, Lymphadenopathy, Lymphadenitis, Abnormality of the lymphatic... ORPHA:2035
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Lymphadenopathy, Elevated ... OMIM:610377
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... OMIM:618986
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia ORPHA:169090
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Lymphopenia, Hypertriglyceridemia, Thrombocy... OMIM:617591
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
Carcinoid Syndrome
Atypical pulmonary carcinoid tumor, Small intestine carcinoid, Increased serum serotonin, Abnorma... ORPHA:100093
Legionnaires Disease
Myocarditis, Hyponatremia, Pericarditis, Endocarditis, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:549
Familial Atrial Myxoma
Cardiomegaly, Bacterial endocarditis, Cardiac myxoma, Pulmonic valve myxoma ORPHA:615
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Ly... OMIM:614700
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy, Pericardial effusion ORPHA:411703
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Abnormality of the l... ORPHA:50918
Boutonneuse Fever
Lymphadenopathy, Thrombocytopenia, Cervical lymphadenopathy, Leukopenia ORPHA:83313
Cyclic Neutropenia
Lymphadenopathy, Lymphopenia, Cyclic neutropenia, Recurrent tonsillitis, Cervical lymphadenopathy... ORPHA:2686
Niemann-Pick Disease, Type A
Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Microcytic anemia, Sea-blue ... OMIM:257200
Scrub Typhus
Lymphadenopathy, Myocarditis, Splenomegaly ORPHA:83317
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... ORPHA:42
Mulibrey Nanism
Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction OMIM:253250
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Enlarged tonsils, Ab... OMIM:308230
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypospadias, Reduced alpha/beta synthesis ratio, Ventricular septal defect, Hypochromic microcyti... OMIM:301040
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Increased circulating ferritin concentration, Unconjugated hyperbilirubinem... ORPHA:766
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ventricular hypertrophy, Cardiom... OMIM:115197
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Increased circulating galectin-3 level, Cardiomegaly, Abno... ORPHA:57777
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutrophilia, Elevat... OMIM:617099
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Pericarditis, Leukopenia, Lymphadenopathy... ORPHA:809
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ca... OMIM:201475
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Micropenis, Crypt... OMIM:141750
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... OMIM:214500
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Type I diabetes mellitus ORPHA:69126
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Hepatomegaly, Lymphadenopathy, Myeloproliferative disorder, Lymphocytosis ORPHA:79456
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Metrorrhagia, Pancytopenia, Throm... ORPHA:520
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Pericardial effusion, Lymphadenopathy, Splenomegaly, Abnormal heart valve morphology ORPHA:36412
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Inappropriate antidiuretic hormone secretion, Absence of lymph node germinal center... ORPHA:79124
X-Linked Lymphoproliferative Disease
Myocarditis, Lymphadenopathy, Splenomegaly, Absent natural killer cells, Increased circulating fe... ORPHA:2442
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Pericarditis, Lymphadenopathy, Splenomegaly, Orchitis, Abnormal myocardium morpholo... ORPHA:32960
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Paratracheal lymphadenopathy, Anemia, Lymphopenia, Elevated circulati... OMIM:615934
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Klatskin Tumor
Lymphadenopathy, Hepatomegaly ORPHA:99978
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Lymphadenopathy, ... OMIM:615688
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, Incre... ORPHA:100080
Carney Triad
Adrenal overactivity, Adrenocortical adenoma, Mediastinal lymphadenopathy, Lymphadenopathy, Anemi... ORPHA:139411
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Elevated levels of phytanic acid OMIM:266500
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia, Hyperuricemia, Hyperuricosuria OMIM:300322
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Merkel cell skin cancer ORPHA:79140
Lead Poisoning
Abnormal T cell morphology, Oligospermia, Imbalanced hemoglobin synthesis, Abnormal sperm morphol... ORPHA:330015
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Thymic Aplasia
Decreased proportion of naive T cells, Hypocalcemic tetany, Coombs-positive hemolytic anemia, Lym... ORPHA:83471
Cantu Syndrome
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion OMIM:239850
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ir... ORPHA:37042
Q Fever
Myocarditis, Hepatomegaly, Pericarditis, Pericardial effusion, Endocarditis, Lymphadenopathy, Ane... ORPHA:781
Gracile Syndrome
Increased circulating ferritin concentration, Decreased transferrin saturation, Elevated hepatic ... ORPHA:53693
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Micropenis OMIM:616897
Bronchial Neuroendocrine Tumor
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Increased serum serotonin, Increased circ... ORPHA:97287
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy ORPHA:33276
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:608013
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:185000
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence OMIM:268800
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cel... ORPHA:3261
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Blackfan-Diamond Anemia
Hypospadias, Thrombocytosis, Ventricular septal defect, Elevated red cell adenosine deaminase lev... ORPHA:124
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the male genitalia, Anemia, Abnormal hemoglobin, Ambiguous genitalia, Cryptorchidi... ORPHA:847
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Leukopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Lymphopenia... ORPHA:93552
Nephroblastoma
Lymphadenopathy ORPHA:654
Brucellosis
Myocarditis, Leukocytosis, Thrombocytosis, Hepatomegaly, Pericarditis, Leukopenia, Endocarditis, ... ORPHA:1304
Fucosidosis
Vacuolated lymphocytes, Cardiomegaly, Hepatomegaly, Splenomegaly OMIM:230000
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Hyperammonemia ORPHA:391428
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Impotence OMIM:105210
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphadenopathy, Lymphocytosis, Thyroiditis, Eosinophilia ORPHA:139402
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... OMIM:305400
Abetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LDL cholesterol ... ORPHA:14
Malt Lymphoma
Lymphadenopathy, Anemia, Abnormality of the thyroid gland, Mediastinal lymphadenopathy ORPHA:52417
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, Incre... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, Incre... ORPHA:100082
Truncus Arteriosus
Adrenocortical abnormality, Ventricular septal defect, Truncus arteriosus, Right ventricular hype... ORPHA:3384
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233710
Familial Pancreatic Carcinoma
Lymphadenopathy, Pancreatic adenocarcinoma, Hepatosplenomegaly, Ovarian carcinoma, Diabetes mellitus ORPHA:1333
Duodenal Neuroendocrine Tumor
Tricuspid stenosis, Iron deficiency anemia, Lymphadenopathy, Insulinoma, Paraganglioma, Pulmonic ... ORPHA:100076
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Decreased plasma free carnitine, Elevated circulating long ... OMIM:608836
Thymoma
Prostate neoplasm, Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Neoplasm of ... ORPHA:99867
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Atypical pulmonary carcinoid tumor, Iron ... ORPHA:100075
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomatosis OMIM:233690
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hepatomegaly, Ventricular septal defect, Lymphadenopathy, Anemia, Splenomegaly, Accessory spleen,... OMIM:619418
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Decreased plasma free carnitine, Hyperlipidemia, Elevated circulating creatine kina... ORPHA:228308
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Epididymitis, Cardiomegal... OMIM:256040
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Myocardia... OMIM:260400
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy, Pericardial effusion ORPHA:199241
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Hepatomegaly ORPHA:343
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia ORPHA:1572
Hyper-Igd Syndrome
Leukocytosis, Lymphadenopathy, Lymphadenitis, Splenomegaly, Neutrophilia, Hepatosplenomegaly OMIM:260920
Aorta Coarctation
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... ORPHA:1457
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Cardiomegaly, Atrial sept... ORPHA:363705
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Labial hypertrophy, Cryptorchidism, Neonat... ORPHA:96191
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly, Hypoalbuminemia ORPHA:255249
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hepatomegaly, Cervical lymphadenopathy, Biventricular hypertrophy, Elevat... OMIM:619573
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Lymphope... OMIM:600802
Pierson Syndrome
Hypoproteinemia OMIM:609049
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Waldenström Macroglobulinemia
Hepatomegaly, Normocytic anemia, Leukemia, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils ORPHA:33226
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Small intestine carcinoid, Iron deficiency anemia, Increased serum serotonin,... ORPHA:100078
Jejunal Neuroendocrine Tumor
Tricuspid stenosis, Small intestine carcinoid, Iron deficiency anemia, Increased serum serotonin,... ORPHA:100077
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect,... ORPHA:439
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Decreased serum insulin-like gro... OMIM:614921
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly, Increased serum beta-hexos... OMIM:252500
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Spon... ORPHA:71275
Periodic Fever, Familial, Autosomal Dominant
Cervical lymphadenopathy, Hepatomegaly OMIM:142680
Beckwith-Wiedemann Syndrome
Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, Gonadoblastoma, Cardiomegaly, ... OMIM:130650
Marburg Hemorrhagic Fever
Hyperamylasemia, Pericarditis, Leukopenia, Hypokalemia, Neutrophilia in presence of infection, Ly... ORPHA:99826
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Cardiomegaly OMIM:618143
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morphology, Lymphadenopathy, A... ORPHA:449432
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Pericarditis, Prostatitis, Lymphadenopathy, Lymphadenitis,... ORPHA:449395
Graft Versus Host Disease
Lymphadenopathy, Hepatosplenomegaly, Hemophagocytosis, Hyperbilirubinemia ORPHA:39812
Beckwith-Wiedemann Syndrome
Hypertrophic cardiomyopathy, Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, G... ORPHA:116
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Lymphadenopathy, Anemia, Hypophosphatemia, Splenomegaly, Hypocalcemia, Abnormal pul... ORPHA:667
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Primum atrial septal defect, Hepatomegaly, Displacement o... ORPHA:1329
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Pineal cyst, Right vent... OMIM:300967
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ca... ORPHA:308552
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormality of the thymus, Cardiomegaly ORPHA:2463
Juvenile Polyposis Syndrome
Hypoproteinemia, Rectocele, Neoplasm of the pancreas, Anemia ORPHA:2929
Fucosidosis
Hepatomegaly, Cardiomegaly, Hypothyroidism ORPHA:349
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Increased circulating ferritin concentration, Decreased transferrin saturat... ORPHA:300298
Farber Disease
Lymphadenopathy, Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:333
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly, Elevated circulating creatine kinase concentration ORPHA:268
Familial Mediterranean Fever
Lymphadenopathy, Orchitis, Pericarditis, Splenomegaly ORPHA:342
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Lymphangioleiomyomatosis
Chylopericardium, Abnormal morphology of female internal genitalia, Lymphadenopathy, Abnormality ... ORPHA:538
Selective Igm Deficiency
Thyroid carcinoma, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Lymphad... ORPHA:331235
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Prostatitis, Lymphadenopathy, Thyroiditis, Sialadenitis, O... ORPHA:449563
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Lymphadenopathy, Autoimmune thrombocytopenia, Lymphopenia, Hypothyroidism, T lymphoc... OMIM:607944
Crimean-Congo Hemorrhagic Fever
Myocarditis, Leukocytosis, Adrenal insufficiency, Hepatomegaly, Pericardial effusion, Leukopenia,... ORPHA:99827
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Cardiomegaly, Biventricular hypertrophy OMIM:261740
Craniofaciofrontodigital Syndrome
Abnormal heart morphology, Cardiomegaly OMIM:114620
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Hepatomegaly, Tricuspid stenosis, Increased serum serotonin, Primary hypercorti... ORPHA:100079
Mucopolysaccharidosis Type 3
Hepatomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Cardiomegaly, S... ORPHA:581
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85408
Malakoplakia
Prostate neoplasm, Abnormality of the menstrual cycle, Orchitis, Follicular hyperplasia ORPHA:556
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the spleen, Mediastinal lymphadenopathy, Pericarditis, ... ORPHA:228123
Sarcoidosis
Hypercalcemia, Hepatomegaly, Diabetes insipidus, Leukopenia, Increased T cell count, Abnormal rep... ORPHA:797
Hennekam Syndrome
Pulmonary lymphangiectasia, Pericardial effusion, Lymphadenopathy, Lymphangioma, Splenomegaly, Ly... ORPHA:2136
Hypertrichotic Osteochondrodysplasia, Cantu Type
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Secondary amenorrhea, Atypical pulmonary carcinoid tumor, Small intestine ca... ORPHA:99889
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Hepatomegaly, Myocardial calcification, Endocardial fibrosis, Coronary a... ORPHA:75565
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein... OMIM:619381
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Chronic lymphatic leukemia, Cardiomegaly, Hepatosplenomegaly, Microp... ORPHA:51
Greenberg Dysplasia
Hepatomegaly, Bone marrow hypocellularity, Cardiomegaly, Pancreatic islet-cell hyperplasia, Hepat... OMIM:215140
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Myocardial eosinophilic infiltration, Anemi... ORPHA:3260
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Hypercalcemia, Pheochromocytoma, Cervical lymphad... ORPHA:653
Behçet Disease
Pericarditis, Endocarditis, Lymphadenopathy, Splenomegaly, Orchitis, Abnormal myocardium morphology ORPHA:117
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Mitral valve prolapse, Cardiomegaly, Left ventricular hypertrophy, Atrial ... OMIM:245600
Proteus Syndrome
Ovarian neoplasm, Macroorchidism, Thymus hyperplasia, Diabetes insipidus, Long penis, Neoplasm of... ORPHA:744
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Dilated cardiomyopathy, Endometrial carcinom... ORPHA:273
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Hepatomegaly, Mediastinal lymphadenopathy, Pericardial effusi... OMIM:181000
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly, Cholelithiasis, Annular pancreas ORPHA:97297
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Lymphadenopathy, Nodular goiter, Abnormality of the submandib... ORPHA:79078
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Lymphadenopathy, Normochromic anemia, Parotitis, Vaginal dryness, ... ORPHA:289390
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Polycystic ovaries, Cardiomegaly ORPHA:137675
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy ORPHA:100086
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism ORPHA:3063
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal heart morphology, Cardiomegaly, Atrial septal defect, Tetralogy of F... ORPHA:980
Kawasaki Disease
Myocarditis, Leukocytosis, Pericarditis, Double outlet right ventricle with subpulmonary ventricu... ORPHA:2331
Williams Syndrome
Bicuspid aortic valve, Overriding aorta, Hypertrophic cardiomyopathy, Hypercalcemia, Ventricular ... ORPHA:904
African Trypanosomiasis
Abnormal prolactin level, Myocarditis, Hepatomegaly, Infertility, Pericarditis, Abnormality of re... ORPHA:3385
Congenital Tracheomalacia
Ventricular septal defect, Abnormal heart morphology, Single ventricle, Cardiomegaly, Atrial sept... ORPHA:95430
Cherubism
Submandibular lymph node enlargement OMIM:118400
Yunis-Varon Syndrome
Hypospadias, Hypoplastic labia majora, Ventricular septal defect, Cardiomegaly, Cardiomyopathy, C... ORPHA:3472
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Decreased circulating ferritin concentration, Abnormal blood inorganic cation concentration, Hype... ORPHA:309854
Blau Syndrome
Abnormal salivary gland morphology, Pericarditis, Lymphadenopathy, Anemia, Splenomegaly ORPHA:90340
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ca... ORPHA:365
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Right ventricular hypertrophy, Cardiomegaly, Right atrial... ORPHA:1677
Trichohepatoenteric Syndrome 1
Increased serum iron, Abnormality of iron homeostasis, Hypermethioninemia, Hypoalbuminemia OMIM:222470
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Congenital Total Pulmonary Venous Return Anomaly
Dextrocardia, Hepatomegaly, Ventricular septal defect, Mixed total anomalous pulmonary venous con... ORPHA:99125
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia OMIM:268150
Syndromic Diarrhea
Abnormality of iron homeostasis, Panhypogammaglobulinemia ORPHA:84064
Generalized Arterial Calcification Of Infancy
Recurrent spontaneous abortion, Myocardial calcification, Pericardial effusion, Ventricular hyper... ORPHA:51608
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Subvalvular aortic stenosis, Aortic valve calcification... 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.

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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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