Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Cngb3 MGI:1353562

Gene Summary

Name:

cyclic nucleotide gated channel beta 3

Synonyms:

CCNC2, CNG6, Cngbeta2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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	Allele	Zyg	Life Stage	P Value
abnormal heart morphology	Cngb3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small testis	Cngb3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged lymph nodes	Cngb3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal lymph node morphology	Cngb3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal testis morphology	Cngb3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Cngb3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
thick ventricular wall	Cngb3^{em1(IMPC)Ccpcz}	HOM	Early adult	5.40×10^-07
abnormal thymus morphology	Cngb3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Cngb3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Cngb3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal caudal vertebrae morphology	Cngb3^{em1(IMPC)Ccpcz}	HOM	Early adult	4.82×10^-06
enlarged heart	Cngb3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

View images

Human diseases caused by Cngb3 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.

Human diseases associated with Cngb3 (4 diseases)
Human diseases predicted to be associated with Cngb3 (644 diseases)

The table below shows human diseases associated to Cngb3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Achromatopsia 3		OMIM:262300

The table below shows human diseases predicted to be associated to Cngb3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, 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
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Ethanolaminosis	Cardiomegaly	OMIM:227150
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Kerion Celsi	Lymphadenopathy	ORPHA:499
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Spinal c...	ORPHA:93476
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Kyphoscoliosis, Cardiomegaly	OMIM:300886
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Azoospermia, C...	OMIM:602390
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos...	OMIM:235200
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Secondary amenorrhea, Cardiomyopathy, Hepatic fibrosis, Hypogonadism,...	OMIM:613313
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Optic Atrophy 5	Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy	OMIM:610708
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo...	ORPHA:319487
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia, Abnormal form of the vertebral bodies	ORPHA:1802
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom...	ORPHA:97290
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Sandhoff Disease	Splenomegaly, Kyphosis, Hepatomegaly	ORPHA:796
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Neonatal Severe Primary Hyperparathyroidism	Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosphate regulating...	ORPHA:417
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hypogonadism, Cardiomyopathy, Hepatomegaly	OMIM:608540
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Increased serum seroto...	ORPHA:100083
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
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
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hypert...	OMIM:252920
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Tyrosinemia Type 1	Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab...	ORPHA:54251
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Spondylometaphyseal Dysplasia, Axial	Splenomegaly, Platyspondyly, Scoliosis, Reduced sperm motility	OMIM:602271
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Cold Agglutinin Disease	Back pain, Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi...	OMIM:271500
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:614480
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Biconvex vertebral bodies, Ventricular septal defect,...	OMIM:616651
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:269920
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic...	OMIM:609981
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Galactosemia Iii	Splenomegaly, Jaundice, Hepatomegaly	OMIM:230350
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti...	OMIM:618195
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy...	OMIM:603903
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Hypogonadism, Male	Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias	OMIM:241100
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	OMIM:620010
Roifman Syndrome	Noncompaction cardiomyopathy, Biconvex vertebral bodies, Hypogonadotropic hypogonadism, Eosinophi...	ORPHA:353298
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Proteus Syndrome	Splenomegaly, Lymphangioma, Spinal canal stenosis, Kyphoscoliosis	OMIM:176920
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia	OMIM:607616
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula...	ORPHA:457083
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	ORPHA:172
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Congenital Myopathy 8	Scoliosis, Cardiomegaly	OMIM:618654
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites, Anemia	ORPHA:1046
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Cardiomegaly	ORPHA:88643
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic st...	OMIM:612526
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Atrial septal defect, Hypergonadotropic hypogonadism, Decreased response to growth ...	OMIM:602782
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Short neck, Lymphadenopathy, Hepatosplenomegaly, Scoliosis, Hypothyroidism	OMIM:619750
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Attrv30M Amyloidosis	Cardiomyopathy, Impotence, Cardiomegaly	ORPHA:85447
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia	OMIM:620210
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy	ORPHA:26790
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Short neck, Splenome...	OMIM:606003
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis	ORPHA:75234
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia	OMIM:613987
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Spinocerebellar Ataxia, Autosomal Recessive 21	Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly	OMIM:616719
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:603909
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hepatomegaly, Abnormal heart valve morphology, Short neck, Splenomeg...	OMIM:230500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ...	ORPHA:324410
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites	ORPHA:2414
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hypertrophy, Scoliosis	OMIM:252900
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit...	OMIM:614034
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Pericardial effusion, ...	ORPHA:77259
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Sclerotic vertebral endplates, Anemia	OMIM:611490
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Thyroid Lymphoma	Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Kaposiform Lymphangiomatosis	Abnormal thoracic spine morphology, Metrorrhagia, Pancreatic cysts, Splenomegaly, Thrombocytopeni...	ORPHA:464329
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus	OMIM:616589
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt...	ORPHA:1332
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Kyphoscoliosis, Cardiomegaly, Kyphosis, Cardiom...	OMIM:300280
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Attrv122I Amyloidosis	Cardiomegaly, Cardiac amyloidosis, Spinal canal stenosis, Hypertrophic cardiomyopathy, Left ventr...	ORPHA:85451
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Congenital Rubella Syndrome	Hepatomegaly, Atrial septal defect, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Ty...	ORPHA:290
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Canavan Disease	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypoplastic vertebral bodies, Platyspondyly, B...	OMIM:618641
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Acute leukemia, Ly...	ORPHA:99812
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Vertebral compression fracture, Anemia, ...	OMIM:230800
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma...	ORPHA:97289
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymph...	ORPHA:85450
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Cantu Syndrome	Bicuspid aortic valve, Ovoid vertebral bodies, Short neck, Pericardial effusion, Cardiomegaly, Cu...	OMIM:239850
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis...	ORPHA:829
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Hypopl...	OMIM:617022
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, Abnormal ly...	ORPHA:39041
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad...	OMIM:618935
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Mogs-Cdg	Hepatomegaly, Atrial septal defect, Thoracic scoliosis, External genital hypoplasia, Inappropriat...	ORPHA:79330
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral...	OMIM:602557
Tularemia	Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l...	ORPHA:3392
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy...	ORPHA:98850
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hype...	OMIM:252930
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Fucosidosis	Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,...	OMIM:230000
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Cryptorchidi...	ORPHA:251066
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Felty Syndrome	Hepatomegaly, Pericarditis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocell...	ORPHA:47612
Middle Ear Neuroendocrine Tumor	Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor	ORPHA:100084
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Pulmonic sten...	OMIM:616028
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Familial Pancreatic Carcinoma	Back pain, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepatic cholestasis, Lymp...	ORPHA:1333
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Dilated cardiomyopathy, Cholestasis, Lym...	OMIM:615895
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Scrub Typhus	Myocarditis, Splenomegaly, Lymphadenopathy	ORPHA:83317
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly	ORPHA:99931
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis	ORPHA:583
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,...	ORPHA:75233
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H...	ORPHA:158057
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Anemia, Cardiomegaly	OMIM:618838
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Poems Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Pericardial effusion, Pri...	ORPHA:2905
Meacham Syndrome	Atrial septal defect, Hypoplasia of penis, Ventricular septal defect, Situs inversus totalis, Abn...	ORPHA:3097
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Cerebral atrophy, Neurode...	OMIM:256600
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly	OMIM:600649
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Rhabdoid Tumor	Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology...	ORPHA:1215
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Legionnaires Disease	Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone...	ORPHA:549
Neonatal Lupus Erythematosus	Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Thrombocytopenia, Di...	ORPHA:398124
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism...	OMIM:222300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade...	ORPHA:169154
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Vertebral compression fracture, Generalized lymphadenopathy, Cervical spinal canal stenosis	OMIM:620232
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Endocardial fibroel...	OMIM:212140
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy	ORPHA:142
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ascites	OMIM:253250
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T...	OMIM:619644
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr...	ORPHA:158061
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly, Pancreatic lymphangiectasis, C...	ORPHA:1655
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant...	ORPHA:79083
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Lymphadenopath...	ORPHA:36412
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,...	ORPHA:160
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Cardiomyopathy	OMIM:619046
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Wilson Disease	Back pain, Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia, Jaun...	ORPHA:905
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Cor pulmonale, Lymph node hypoplas...	OMIM:300755
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Portal hypertension, Malformation of the...	OMIM:208540
Alpha-N-Acetylgalactosaminidase Deficiency	Scoliosis, Cardiomegaly	ORPHA:3137
Sandhoff Disease	Hepatomegaly, Impotence, Cardiomegaly, Hepatosplenomegaly	OMIM:268800
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Short neck, Splenomegaly, Panc...	OMIM:235255
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g...	ORPHA:1451
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Portal hypertension, Hypersplenism, ...	OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ova...	ORPHA:2348
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Abnormal sacroiliac joint morpho...	ORPHA:32960
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ventricular septal defect, Cardiomegaly, Short neck, Micropenis, Platyspondyly, Hype...	OMIM:616897
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly	OMIM:614702
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Papa Syndrome	Type I diabetes mellitus, Lymphadenopathy	ORPHA:69126
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Short neck, Bilateral cryptorchidism, Cryptorchid...	OMIM:305400
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In...	ORPHA:100080
Cyclic Neutropenia	Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy...	ORPHA:2686
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Fucosidosis	Hepatomegaly, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Anterior beaking of lumbar ...	ORPHA:349
Oculoskeletodental Syndrome	Hepatomegaly, Cryptorchidism, Splenomegaly, Thoracic kyphosis, Scoliosis, Hypothyroidism	OMIM:618440
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia	OMIM:618165
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p...	OMIM:304790
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ...	ORPHA:781
Tangier Disease	Left ventricular hypertrophy, Splenomegaly, Hepatomegaly	OMIM:205400
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocardi...	ORPHA:809
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Sea-blue histiocytosis, ...	OMIM:230600
Boutonneuse Fever	Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy	ORPHA:83313
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Microvesicular hepatic s...	OMIM:619418
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Lymphatic Filariasis	Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel...	ORPHA:2035
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly	OMIM:235555
H Syndrome	Diabetes mellitus, Microcytic anemia, Amenorrhea, Lymphadenopathy, Hepatosplenomegaly, Azoospermi...	ORPHA:168569
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia	OMIM:605309
Mevalonic Aciduria	Normocytic hypoplastic anemia, Kyphoscoliosis, Fluctuating splenomegaly, Fluctuating hepatomegaly...	OMIM:610377
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Hypogonadism, Decreased serum testosterone concentration, Decreased t...	OMIM:201100
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Hypothyroidism, Tetralogy of Fallot, Patent foramen ovale	OMIM:601005
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Short neck, Splenomegaly, Hepatitis, Anterior beaki...	ORPHA:584
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short neck, Dysplastic sacrum, Severe platyspondyly, Cardiomegaly	OMIM:613320
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Lymphoc...	ORPHA:514
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas...	ORPHA:540
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased T cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c...	OMIM:616005
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple...	OMIM:612541
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hepatosple...	OMIM:603553
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Menorrhagia, Abnormal number of alpha granules	OMIM:139090
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Myocarditis, Hepatitis, Thyroiditis, Lymphadenopathy, Lymphocytosis	ORPHA:139402
Cantú Syndrome	Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Cardiomegaly, Cuboid-shaped ...	ORPHA:1517
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia, Anemia	OMIM:617591
Mcleod Syndrome	Hepatomegaly, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy	OMIM:300842
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hypertrophic cardiomyop...	OMIM:201475
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver	ORPHA:91138
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen...	ORPHA:50918
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Ascites, Anemia	OMIM:608013
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irregular menstruati...	ORPHA:264580
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom...	ORPHA:31150
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
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
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T...	OMIM:214500
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Hepatic necrosis, Pulmonary carcinoid tumor, Small intesti...	ORPHA:100093
Lymphatic Malformation 6	Splenomegaly, Hydrocele testis, Scoliosis, Atrial septal defect, Intestinal lymphangiectasia, Asc...	OMIM:616843
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hepatic steatosis, Cardiomegaly	ORPHA:42
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervertebral space...	OMIM:607944
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutrope...	ORPHA:520
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer	ORPHA:79140
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Abnormally ossified vertebrae	ORPHA:3035
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Hepatic steatosis, Cardiomegaly	OMIM:255120
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short neck, Splenomegaly, Jaundice, Normochromic anemia, Cholecy...	OMIM:611881
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Brucellosis	Hepatomegaly, Pericarditis, Liver abscess, Hypersplenism, Splenomegaly, Leukocytosis, Thrombocyto...	ORPHA:1304
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy, Hypothyroidism	OMIM:617713
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Dilated cardiomyopat...	OMIM:615688
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Familial Mediterranean Fever	Pericarditis, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Ascites, Pancreatitis	ORPHA:342
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Pericardial effusion, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia...	ORPHA:93552
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Chops Syndrome	Ventricular septal defect, Splenomegaly, Cryptorchidism, Anomalous pulmonary venous return, Cervi...	OMIM:616368
Carney Triad	Mediastinal lymphadenopathy, Adrenal overactivity, Lymphadenopathy, Pheochromocytoma, Adrenocorti...	ORPHA:139411
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia	ORPHA:90033
Glycogen Storage Disease Ii	Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:232300
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab...	ORPHA:3384
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Lumbar hemivertebrae, Cardiomegaly	ORPHA:2463
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert...	ORPHA:57777
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Autoimmune Lymphoproliferative Syndrome	Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD...	ORPHA:3261
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m...	ORPHA:84064
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard...	ORPHA:77261
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Thoracolumbar scoliosis, Portal hypertension, Pancreatic cysts, ...	OMIM:610199
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro...	OMIM:153670
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega...	OMIM:614921
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Scoliosis, Cardiomegaly	OMIM:618143
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Kyphosis, Normoch...	OMIM:615512
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly	OMIM:266500
Autoimmune Hepatitis	Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Thyroiditis, Scler...	ORPHA:2137
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom...	OMIM:300967
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Splenomegaly, H...	OMIM:252500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ...	OMIM:102700
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ...	ORPHA:1572
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Th...	ORPHA:83471
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis	OMIM:249100
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mitral valve prolapse, Hila...	OMIM:620233
Multiple Myeloma	Splenomegaly, Vertebral compression fracture, Anemia, Lymphadenopathy	ORPHA:29073
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy...	OMIM:616084
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In...	ORPHA:100075
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia	ORPHA:33226
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Hemophagocytosis, Acute hepatitis	ORPHA:39812
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte mor...	ORPHA:565612
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Fused cervical vertebrae, Splenomegaly, Neutrophilia, Hepatomegaly	OMIM:612852
Coccidioidomycosis	Abnormal sperm morphology, Pericarditis, Eosinophilia, Abnormality of the endocrine system, Abnor...	ORPHA:228123
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc...	OMIM:130650
Malt Lymphoma	Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Isolated Biliary Atresia	Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta...	ORPHA:30391
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum leptin, Decreased fert...	OMIM:269700
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Abnormal form of th...	ORPHA:581
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatiti...	ORPHA:449432
Niemann-Pick Disease, Type C1	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon...	OMIM:257220
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Pericardial effusion, Splenomegaly, Thrombocytopenia...	ORPHA:167
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Hyperlordosis, Spinal rigidity, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Impotence, Cardiomegaly	OMIM:105210
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
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,...	ORPHA:567983
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia, Small inte...	ORPHA:100078
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom...	ORPHA:333
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Short neck, Cryptorchidism, Splenomegaly...	OMIM:613563
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An...	OMIM:615934
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parathyroid hormone...	OMIM:239200
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the cervical spine, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Decreased fertility ...	OMIM:608594
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Short neck, Mitral valve prolapse, Pla...	OMIM:245600
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Scoliosis	OMIM:612918
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Abnormal morphology of female internal genitalia, Chyloperic...	ORPHA:538
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Hyperthyroidism, Autoimmune thrombocytopenia, Abnormality of the end...	ORPHA:37042
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ...	ORPHA:79431
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Mitral valve calcification, Splenomegaly, Abnormality of the spleen, Thrombocytopen...	ORPHA:2072
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly	OMIM:619259
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Chronic noninfectious lymphadenopathy, Tricuspid stenosis, Ovarian neoplasm, Adreno...	ORPHA:100079
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lipid accumulation in hepatocytes, Hepatic ca...	OMIM:608836
Achalasia-Addisonianism-Alacrima Syndrome	Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom...	OMIM:231550
Behçet Disease	Pericarditis, Orchitis, Splenomegaly, Endocarditis, Lymphadenopathy, Abnormal myocardium morpholo...	ORPHA:117
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Aicardi-Goutières Syndrome	Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia...	ORPHA:51
Hennekam Syndrome	Lymphopenia, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lym...	ORPHA:2136
Camurati-Engelmann Disease	Hepatomegaly, Hyperlordosis, Splenomegaly, Kyphosis, Leukopenia, Abnormality of the vertebral col...	ORPHA:1328
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly	OMIM:615947
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Cervical lymp...	ORPHA:3260
Hereditary Orotic Aciduria	Splenomegaly, Anemia	ORPHA:30
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Parotitis, Orchitis, Splenomegaly, ...	ORPHA:99827
Malakoplakia	Orchitis, Prostate neoplasm, Abnormality of the menstrual cycle, Follicular hyperplasia	ORPHA:556
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Hypothyroidi...	ORPHA:116
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti...	ORPHA:744
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim...	OMIM:619573
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Delayed puberty, Neutropenia, Hepatocellular car...	OMIM:232220
Abetalipoproteinemia	Hepatomegaly, Reticulocytosis, Kyphoscoliosis, Cardiomegaly, Acanthocytosis, Hypothyroidism, Hepa...	ORPHA:14
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology...	ORPHA:228308
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:667
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Cervical lymphadenopath...	ORPHA:2331
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Vertebral compression fra...	OMIM:263700
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:308552
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Elevated circulating thyr...	OMIM:256040
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Cervical neoplasm, Thyroid C cell hyperplasia, Hyperlordosis, Kyp...	ORPHA:653
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Pericardial effusion, ...	OMIM:615846
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormality of the anterior pituit...	ORPHA:449563
Digeorge Syndrome	Pilonidal sinus, Parathyroid agenesis, Ventricular septal defect, Decreased circulating parathyro...	OMIM:188400
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas...	ORPHA:331235
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Tyrosinemia, Type I	Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Pancreatic islet-cell hyperplasia, Cirrh...	OMIM:276700
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Aspartylglucosaminuria	Hepatomegaly, Splenomegaly, Anterior beaking of lumbar vertebrae, Scoliosis, Macroorchidism, Beak...	ORPHA:93
Lesch-Nyhan Syndrome	Testicular atrophy, Megaloblastic anemia	OMIM:300322
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi...	OMIM:181000
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased serum insulin-like growth factor 1, Abnormal heart valve morphology, Auto...	ORPHA:77293
Marburg Hemorrhagic Fever	Back pain, Lymphopenia, Reticulocytosis, Pericarditis, Orchitis, Jaundice, Neutrophilia in presen...	ORPHA:99826
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Hydrometrocolpos, Aplasia of the epiglottis, Atrioventricular canal d...	OMIM:617088
Igg4-Related Kidney Disease	Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morpholog...	ORPHA:449395
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp...	ORPHA:731
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Kyphoscoliosis, Cryptorchidism, Kyphosis, Abnormality of the Leydig cells, Testicula...	ORPHA:3063
Histiocytoid Cardiomyopathy	Hepatomegaly, Polycystic ovaries, Ventricular septal defect, Cardiomegaly	ORPHA:137675
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Hyperthyroidism, Parotitis, Eosinophilia, Portal hypertension, Di...	ORPHA:797
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Cardiomegaly	ORPHA:97297
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden...	OMIM:619381
Blau Syndrome	Pericarditis, Splenomegaly, Lymphadenopathy, Abnormality of the liver, Abnormal salivary gland mo...	ORPHA:90340
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Hyperlordosis, Cardiomegaly, Scoliosis, Left ventricular hypertrophy, Hypertrophic ...	ORPHA:365
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Splenomegaly, Hepatomegaly	OMIM:612132
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of ...	ORPHA:79078
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Scoliosis, Cardiomegaly	ORPHA:91387
Steinert Myotonic Dystrophy	Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g...	ORPHA:273
African Trypanosomiasis	Hepatomegaly, Pericarditis, Abnormality of the menstrual cycle, Abnormality of the endocrine syst...	ORPHA:3385
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal form of the vertebral bodies, ...	ORPHA:904
Primary Sjögren Syndrome	Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Parotitis, Biliary cirrhosis, Thyro...	ORPHA:289390
Yunis-Varon Syndrome	Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C...	ORPHA:3472
Leptospirosis	Hepatomegaly, Pericarditis, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia	ORPHA:509
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Johanson-Blizzard Syndrome	Hepatic fibrosis, Atrial septal defect, Micropenis, Hypothyroidism, Hepatomegaly, Hypospadias, Po...	OMIM:243800
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
Plague	Hepatomegaly, Splenomegaly, Lymphadenitis, Endocarditis, Enlarged mesenteric lymph node	ORPHA:707
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Adrenal calcification, Cardiomegaly, Pericardial effusion, Hepatic calci...	ORPHA:51608
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Scoliosis, Subvalvular aort...	OMIM:182250
Achromatopsia 3		OMIM:262300

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 Cngb3

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 Cngb3.

No publications found that use IMPC mice or data for Cngb3.

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
Cngb3^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Cngb3^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Cngb3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Cngb3 MGI:1353562

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Cngb3 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data