banner
Genes Phenotypes Help, News, Blog

Gene: Fbxo25 MGI:1914072

Log in to follow

Gene Summary

Name:
F-box protein 25
Synonyms:
9130015I06Rik,  Fbx25

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Fbxo25em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Fbxo25em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal behavior Fbxo25em1(IMPC)Ccpcz HOM Early adult 5.22×10-05
abnormal skin morphology Fbxo25em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lymph node morphology Fbxo25em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Fbxo25em1(IMPC)Ccpcz HOM Early adult 0.00
decreased thigmotaxis Fbxo25em1(IMPC)Ccpcz HOM Early adult 5.22×10-05
abnormal urinary bladder morphology Fbxo25em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged lymph nodes Fbxo25em1(IMPC)Ccpcz HOM Early adult 0.00
decreased mean platelet volume Fbxo25em1(IMPC)Ccpcz HOM Early adult 2.02×10-05
enlarged spleen Fbxo25em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Fbxo25em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Fbxo25em1(IMPC)Ccpcz HOM Early adult 0.00
decreased locomotor activity Fbxo25em1(IMPC)Ccpcz HOM Early adult 6.45×10-05
enlarged urinary bladder Fbxo25em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebral arch morphology Fbxo25em1(IMPC)Ccpcz HOM Early adult 7.53×10-05
abnormal thymus morphology Fbxo25em1(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

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 Skull Lateral Orientation

15 Images

View images
X-ray

XRay Images Hind Leg and Hip

30 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

30 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

15 Images

View images
X-ray

XRay Images Forepaw

15 Images

View images

Human diseases caused by Fbxo25 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fbxo25 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Ataxia, Gait disturbance, Hepatomegaly ORPHA:2274
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Mantle Cell Lymphoma
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:52416
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... OMIM:617718
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Depression, Neutropenia, Anemia OMIM:602079
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Anorexia, Lymphadenopathy ORPHA:86893
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Sandhoff Disease
Splenomegaly, Kyphosis, Ataxia, Hepatomegaly ORPHA:796
Kerion Celsi
Lymphadenopathy ORPHA:499
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Splenomegaly, Irritability, Loss of ambulation, Thrombocytopenia OMIM:615010
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... OMIM:603552
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia ORPHA:858
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Heparan sulfate exc... OMIM:252920
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Myh9-Related Disease
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Irritability OMIM:612126
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia, Abnormal form of the vertebral bodies ORPHA:1802
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... OMIM:155100
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Spinal c... ORPHA:93476
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... ORPHA:2585
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Immunodeficiency 27A
Anorexia, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosple... OMIM:209950
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
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
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos... OMIM:612840
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Thrombocytopenia, Choreoathetosis, Car... ORPHA:79312
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:618261
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... OMIM:169400
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Cold Agglutinin Disease
Back pain, Hepatomegaly, Hemolytic anemia, Abnormal urinary color, Splenomegaly, Lymphadenopathy ORPHA:56425
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Jaundice, Depression, Increased urinary porphobilinogen, Elevated uri... OMIM:121300
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Tyrosinemia Type 1
Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Aminoaciduria, Hepatomegaly ORPHA:417
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Ascites OMIM:269920
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... OMIM:231200
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly ORPHA:79238
Syndromic Diarrhea
Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m... ORPHA:84064
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Depression, Thrombocytopenia OMIM:231000
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy OMIM:618982
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyng... ORPHA:100083
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Sitosterolemia 1
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Thrombocytope... ORPHA:507
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Inability to walk, Lymphad... OMIM:257200
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia OMIM:607616
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Anorexia, Portal hypertension, Splenome... ORPHA:824
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cirrhosis, Lethargy OMIM:602390
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Roifman Syndrome
Hepatomegaly, Biconvex vertebral bodies, Noncompaction cardiomyopathy, Ventricular septal defect,... OMIM:616651
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Renal insufficiency, Hypospadias, Kyphoscoliosis, Short neck, Hemolytic-uremi... OMIM:611209
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology ORPHA:33111
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis OMIM:620010
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... ORPHA:848
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:614480
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:616719
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Takenouchi-Kosaki Syndrome
Ataxia, Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Cryptorchidism, A... OMIM:616737
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:603909
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy,... OMIM:614034
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis ORPHA:172
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Reticulocytosis OMIM:179700
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy... OMIM:618886
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Babesiosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Jaundice, Depression... ORPHA:108
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Rhabdoid Tumor
Lymphadenopathy, Anemia, Neoplasm of the liver, Irritability, Hematuria, Thrombocytopenia ORPHA:69077
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Platyspondyly, Scoliosis OMIM:602271
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Trichohepatoenteric Syndrome 1
Hepatomegaly, Ventricular septal defect, Hypospadias, Increased mean platelet volume, Abnormality... OMIM:222470
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia ORPHA:1046
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly, Dysphagia ORPHA:77260
Wilson Disease
Back pain, Hepatomegaly, Aggressive behavior, Splenomegaly, Hypersexuality, Thrombocytopenia, Jau... ORPHA:905
Griscelli Syndrome
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa... ORPHA:381
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ... ORPHA:66624
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Splenic infarcti... OMIM:603903
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy, Dysphagia ORPHA:50251
Sialidosis Type 2
Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Nephropathy, Ascites ORPHA:87876
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... OMIM:609981
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Anorexia, Hypersplenism, Splenomegaly, Thrombocytopenia,... ORPHA:77259
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center OMIM:608184
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia ORPHA:397596
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Aggressive Systemic Mastocytosis
Pancytopenia, Anorexia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymph... ORPHA:98850
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumba... OMIM:252900
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Sclerotic vertebral endplates, Anemia OMIM:611490
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Waddling gait, Left atrial enlargement, Kyphoscoliosis, Cardiomegaly, Ky... OMIM:300280
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Lathosterolosis
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Lumbosacral meningocele, In... OMIM:607330
Intellectual Developmental Disorder, Autosomal Recessive 41
Splenomegaly, Self-injurious behavior, Abnormal repetitive mannerisms, Hepatomegaly OMIM:615637
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenome... OMIM:613179
Legionnaires Disease
Pericarditis, Renal insufficiency, Ataxia, Proteinuria, Anorexia, Splenomegaly, Jaundice, Myocard... ORPHA:549
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, Ov... OMIM:252930
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Ataxia, Splenomegaly, Cardiomyopathy, Agitation OMIM:619046
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemoly... OMIM:619644
Congenital Myopathy 8
Scoliosis, Cardiomegaly OMIM:618654
Mevalonic Aciduria
Splenomegaly, Ataxia ORPHA:29
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosis, Hepatocellular carcinoma, As... OMIM:235200
Joubert Syndrome 33
Splenomegaly, Ataxia OMIM:617767
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Free Sialic Acid Storage Disease
Hepatomegaly, Ataxia, Proteinuria, Splenomegaly, Athetosis, Nephrotic syndrome, Gait disturbance,... ORPHA:834
Roifman Syndrome
Noncompaction cardiomyopathy, Biconvex vertebral bodies, Eosinophilia, Lymphadenopathy, Hepatospl... ORPHA:353298
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy ORPHA:85414
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Kyphoscoliosis, Cardiomegaly OMIM:300886
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Fucosidosis
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,... OMIM:230000
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Short neck, Lymphadenopathy, Hepatosplenomegaly, Scoliosis OMIM:619750
Scrub Typhus
Renal insufficiency, Myocarditis, Splenomegaly, Lymphadenopathy, Lethargy ORPHA:83317
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Neonatal death, ... ORPHA:85212
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Kyphoscoliosis, Abnormal fear-ind... ORPHA:3077
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly ORPHA:2204
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Ataxia, Splenomegaly, Irritability, Cirrhosis OMIM:613489
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Kaposiform Lymphangiomatosis
Abnormal thoracic spine morphology, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality... ORPHA:464329
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormality of the lympha... ORPHA:487796
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad... OMIM:618935
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Ataxia, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Gait disturbance... OMIM:230600
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... ORPHA:54251
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... ORPHA:3392
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis OMIM:300635
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast... ORPHA:160
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
Aregenerative Anemia
Pancytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Reticulocytopeni... ORPHA:101096
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Ataxia, Cardiomegaly, Unsteady gait, Limb ataxia, Gait ataxia, Depression, Cardiomyopathy, 3-Meth... OMIM:619259
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Ventricular septal defect, Splenomegaly, Leukopenia, Lymphopenia OMIM:620210
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... OMIM:613470
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Renal insufficiency, Abnormal heart valve morphology, Ataxia, Proteinuria, Pericard... ORPHA:36412
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... ORPHA:276
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopat... OMIM:212140
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Mevalonic Aciduria
Normocytic hypoplastic anemia, Ataxia, Kyphoscoliosis, Fluctuating splenomegaly, Fluctuating hepa... OMIM:610377
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Short neck, Splenomegaly, Kyphosis, Vacuolated lym... OMIM:230500
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly OMIM:618107
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Ataxia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Irritability, Le... OMIM:267700
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Vertebral... OMIM:230800
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocell... ORPHA:47612
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno... ORPHA:39041
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Short neck, Splenomegaly, Micronodular cir... OMIM:606003
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Th... ORPHA:290
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Lethargy OMIM:600649
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, He... OMIM:603553
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Ataxia, Splenomegaly, Kyphosis, Increased urina... ORPHA:812
Attrv122I Amyloidosis
Cardiomegaly, Cardiac amyloidosis, Spinal canal stenosis, Hypertrophic cardiomyopathy, Left ventr... ORPHA:85451
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Lethargy, Cardiomegaly OMIM:619064
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Dilated cardiomyopathy, Cholestasis, Lym... OMIM:615895
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,... OMIM:616589
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... ORPHA:158061
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Splenom... OMIM:214500
Cholesteryl Ester Storage Disease
Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly ORPHA:75234
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H... ORPHA:158057
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypoplastic vertebral bodies, Platyspondyly, B... OMIM:618641
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy ORPHA:3386
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Thrombocytopenia, Di... ORPHA:398124
Cinca Syndrome
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis... ORPHA:1451
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral... OMIM:602557
Cantu Syndrome
Bicuspid aortic valve, Ovoid vertebral bodies, Short neck, Cardiomegaly, Pericardial effusion, Cu... OMIM:239850
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Attrv30M Amyloidosis
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly ORPHA:85447
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi... OMIM:208540
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... ORPHA:169154
Farber Lipogranulomatosis
Splenomegaly, Irritability, Lipogranulomatosis, Hepatomegaly OMIM:228000
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Ascites, Lymphadenopathy ORPHA:26790
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Dysphag... OMIM:608013
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis... ORPHA:829
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Nocturia, Abnormal ly... ORPHA:85450
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites ORPHA:2414
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... ORPHA:615
Boutonneuse Fever
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia ORPHA:83313
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria ORPHA:664
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... ORPHA:822
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Cardiomegaly, Inability to walk, Abnormal atrioventricular valve morphology, Mitr... ORPHA:324410
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Cardiomyopathy... ORPHA:465508
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Sple... ORPHA:781
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, C... OMIM:602782
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Hsd10 Disease, Infantile Type
Restlessness, Cardiomegaly, Choreoathetosis, Dysphagia, Loss of ambulation, Hypertrophic cardiomy... ORPHA:391428
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph... OMIM:304790
Mcleod Syndrome
Hepatomegaly, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Depression, Cardiomyopathy, C... OMIM:300842
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytos... ORPHA:514
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Ataxia, Cardiomegaly... ORPHA:42
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Muco... ORPHA:583
Familial Pancreatic Carcinoma
Back pain, Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic cholestasis, Lymphadenopat... ORPHA:1333
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Macroscopic hema... ORPHA:274
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Acute Promyelocytic Leukemia
Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, A... ORPHA:520
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Essential Thrombocythemia
Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Short neck, Cardiomegaly, Hypopl... OMIM:617022
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Limb ataxia, Truncal ataxia, Hypertrophic cardiomyopathy OMIM:619051
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... ORPHA:79456
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas... ORPHA:540
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Lymphadenopathy, Abnormal liver parenchyma morphology, Pheochromocyt... ORPHA:1332
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Hepatocellular... OMIM:201475
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Scoliosis, Cardiomegaly ORPHA:3137
Typhoid
Splenomegaly, Ataxia, Lethargy, Hepatomegaly ORPHA:99745
Cyclic Neutropenia
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy... ORPHA:2686
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Ataxia, Anorexia, Splenomegaly, Cervical lymphadenopat... ORPHA:50918
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... ORPHA:231214
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Sandhoff Disease
Hepatomegaly, Ataxia, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Lethargy, Hepatic stea... OMIM:255120
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ascites OMIM:253250
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... OMIM:618048
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Ataxia, Splenomegaly, Irritability, Emotional lability, Decreased testicular size, ... OMIM:201100
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Splenomegaly, Thrombocy... OMIM:278000
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Mucopolysaccharidosis, Type Iiid
Restlessness, Hyperactivity, Hepatomegaly, Thoracic scoliosis, Pilonidal sinus, Aggressive behavi... OMIM:252940
Thyroid Lymphoma
Goiter, Lymphadenopathy, Dysphagia ORPHA:97285
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Short neck, Splenomegaly, Thrombocytopenia, Inability to walk, Leukope... OMIM:617303
Mucopolysaccharidosis Type 3
Adenoiditis, Cardiomegaly, Abnormal form of the vertebral bodies, Loss of ambulation, Hepatomegal... ORPHA:581
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocardi... ORPHA:809
Pediatric Systemic Lupus Erythematosus
Dark urine, Lymphopenia, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy,... ORPHA:93552
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Pulmonic sten... OMIM:616028
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pi... ORPHA:97289
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Lymphadenopathy, Dysphagia ORPHA:142
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha... ORPHA:91138
Niemann-Pick Disease, Type C1
Hepatomegaly, Ataxia, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Gait ataxia, Prolonged... OMIM:257220
Whipple Disease
Hepatomegaly, Pericarditis, Ataxia, Anorexia, Splenomegaly, Mediastinal lymphadenopathy, Myocardi... ORPHA:3452
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Acute leukemia, Ly... ORPHA:99812
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Hyperlordosis, Spinal rigidity, Cardiomegaly, Inability to walk, Pollakisuria, Tip-toe gait, Dysp... ORPHA:268
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephro... OMIM:616084
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Renal insufficiency, Ataxia, Abnormality of neutrophils, Anorexi... ORPHA:33226
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Short neck, Cardiomegaly, Micropenis, Platyspondyly, Hype... OMIM:616897
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Mogs-Cdg
Hepatomegaly, Thoracic scoliosis, Atrial septal defect, Cardiomegaly, Hepatosplenomegaly, Hydroce... ORPHA:79330
Nephroblastoma
Hematuria, Neoplasm of the liver, Lymphadenopathy ORPHA:654
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia, Anemia OMIM:617591
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Splenomegaly, Leukocytosis, Dilated card... OMIM:615688
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Ataxia, ... ORPHA:77261
Coach Syndrome 1
Hepatomegaly, Ataxia, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Abnormal abdo... OMIM:216360
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color ORPHA:90037
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... OMIM:614700
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Short neck, Splenomegaly, Hepatitis, Mucopolysaccha... ORPHA:584
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycop... OMIM:603585
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly OMIM:614702
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Incr... ORPHA:100924
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervertebral space... OMIM:607944
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Ataxia, Lymphadenopathy ORPHA:343
Poems Syndrome
Pericardial effusion, Lymphadenopathy, Sclerotic vertebral endplates, Thrombocytosis, Ascites, Po... ORPHA:2905
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Papa Syndrome
Proteinuria, Lymphadenopathy ORPHA:69126
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Short neck, Splenomega... ORPHA:93473
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Anterior beaking of lower thoracic vertebrae, Abnormal heart valve morphology, Shor... OMIM:253220
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Kyphosis, Unstead... OMIM:615512
Refsum Disease, Classic
Cardiomyopathy, Ataxia, Abnormal renal physiology, Cardiomegaly OMIM:266500
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Sandwich appearance of vertebral bodies, Splenomegaly, Anemia, Thromb... OMIM:259700
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy, Tubulointerstitial ne... ORPHA:139402
Fucosidosis
Hepatomegaly, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Mucopolysacchariduria, Ante... ORPHA:349
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Ataxia, Pericardial effusion, Splenomegaly, Thromboc... ORPHA:167
Glycogen Storage Disease Ii
Hepatomegaly, Urinary incontinence, Cardiomegaly, Splenomegaly, Difficulty walking OMIM:232300
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short neck, Dysplastic sacrum, Severe platyspondyly, Cardiomegaly OMIM:613320
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Hurler Syndrome
Hepatomegaly, Short neck, Heparan sulfate excretion in urine, Splenomegaly, Hypoplasia of the odo... OMIM:607014
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly OMIM:235555
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c... OMIM:616005
Niemann-Pick Disease, Type C2
Hepatomegaly, Ataxia, Bone-marrow foam cells, Fetal ascites, Splenomegaly, Jaundice, Prolonged ne... OMIM:607625
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
Multiple Myeloma
Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Nephropathy, Vertebral compression fracture, A... ORPHA:29073
Brucellosis
Hepatomegaly, Pericarditis, Liver abscess, Glomerulonephritis, Anorexia, Hypersplenism, Splenomeg... ORPHA:1304
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren... OMIM:260920
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Microvesicular hepatic s... OMIM:619418
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short neck, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic... OMIM:611881
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Hurler-Scheie Syndrome
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Kyphosis, Dermatan sulfate excret... OMIM:607015
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Cor pulmonale, Lymph node hypoplasia, T lymphocy... OMIM:300755
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... ORPHA:30
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple... OMIM:612541
Autoimmune Hepatitis
Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis, Jaundice... ORPHA:2137
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Sarcoidosis, Susceptibility To, 2
Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly OMIM:612387
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Vertebral compression fracture, Generalized lymphadenopathy, Cervical spinal canal stenosis OMIM:620232
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Increased T cell count, Absent peripheral lymph nodes in presence of infection, ... ORPHA:98813
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Abnormal pulmonary valve cusp morp... ORPHA:100080
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Short neck, Splenomegaly, Panc... OMIM:235255
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... ORPHA:31150
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul... ORPHA:309854
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Sple... ORPHA:53035
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu... OMIM:239200
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Splenomegaly, H... OMIM:252500
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Attention deficit hyperactivity disorder, Depression OMIM:618798
Multiple Sulfatase Deficiency
Hepatomegaly, Ataxia, Splenomegaly, Hypoplastic vertebral bodies, Mucopolysacchariduria OMIM:272200
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Chronic hepatitis, Irritability, Hepatosplenomegaly, Hemophagocytosis,... ORPHA:39812
Cantú Syndrome
Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Cardiomegaly, Cuboid-shaped ... ORPHA:1517
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Ataxia, Cardiomegaly, Cryptorchidism, Inability to walk, Gait disturbance, Inapprop... OMIM:618143
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mitral valve prolapse, Leth... OMIM:620233
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Portal hypertension, Spl... ORPHA:1454
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... OMIM:102700
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Cardio... OMIM:608836
Cirrhotic Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Addictive alcohol use, Cirrhosis, ... ORPHA:57777
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Abnormally ossified vertebrae ORPHA:3035
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly, Pancreatic lymphangiectasis, C... ORPHA:1655
Acute Interstitial Pneumonia
Pericardial effusion, Reduced hematocrit, Lymphadenopathy ORPHA:79126
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... ORPHA:1572
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... OMIM:251880
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... OMIM:301068
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Abnormal sacroiliac joint morpho... ORPHA:32960
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Inability to walk, Stomatocytosis OMIM:608885
8P11.2 Deletion Syndrome
Hemolytic anemia, Sacral dimple, Hypoplasia of penis, Cryptorchidism, Splenomegaly, Spherocytosis... ORPHA:251066
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia, Abnormal T cell subset distri... ORPHA:158048
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Amyloidosis, Hereditary, Transthyretin-Related
Ataxia, Urinary incontinence, Cardiomegaly, Limb ataxia, Cardiomyopathy, Truncal ataxia OMIM:105210
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Abnormal pulmonary valve cusp morp... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Abnormal pulmonary valve cusp morp... ORPHA:100082
Bronchial Neuroendocrine Tumor
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, An... ORPHA:97287
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hy... ORPHA:2035
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Broad-based gait, Ataxia, Kyphoscoliosis, Cardiomegaly, Acanthocyt... ORPHA:14
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut... ORPHA:293173
Carney Triad
Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Ascites, Anemia ORPHA:139411
Scheie Syndrome
Splenomegaly, Mucopolysacchariduria, Hepatomegaly ORPHA:93474
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom... ORPHA:333
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... ORPHA:699
Familial Mediterranean Fever
Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis... ORPHA:342
Biotinidase Deficiency
Hepatomegaly, Ataxia, Splenomegaly, Organic aciduria, Lethargy OMIM:253260
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega... OMIM:300967
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis OMIM:142680
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Thoracolumbar scoliosis, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepat... OMIM:610199
Behçet Disease
Pericarditis, Renal insufficiency, Ataxia, Anorexia, Orchitis, Splenomegaly, Endocarditis, Lympha... ORPHA:117
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Aicardi-Goutières Syndrome
Cardiomegaly, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegal... ORPHA:51
Sting-Associated Vasculopathy, Infantile-Onset
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... OMIM:615934
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Lumbar hemivertebrae, Cardiomegaly ORPHA:2463
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ... ORPHA:228308
Camurati-Engelmann Disease
Waddling gait, Hepatomegaly, Ataxia, Anorexia, Hyperlordosis, Splenomegaly, Kyphosis, Leukopenia,... ORPHA:1328
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Fused cervical vertebrae, Splenomegaly, Neutrophilia, Hepatomegaly OMIM:612852
H Syndrome
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Micropenis, Decreased testicular size, En... ORPHA:168569
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy... OMIM:614921
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Renal hypoplasia, Scoliosis OMIM:612918
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy OMIM:617099
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Cervical lymp... ORPHA:3260
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Pericardial effusion, ... OMIM:615846
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Mitral valve calcification, Broad-based gait, Splenomegaly, Abnormality of the sple... ORPHA:2072
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, Neutropenia in... ORPHA:37042
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the cervical spine, Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Leukocytosis, Cervical l... ORPHA:2331
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, An... ORPHA:100075
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro... OMIM:619991
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Abnormal heart valve morphology, Ataxia, Autoimmune thrombocytopenia, Hypersplenism... ORPHA:77293
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Anemia, Dysphagia, Thrombocytopenia OMIM:230900
Hennekam Syndrome
Lymphopenia, Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hors... ORPHA:2136
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Vertebral comp... OMIM:263700
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... ORPHA:83471
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... ORPHA:100086
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly OMIM:614473
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatomegaly, Splenomegaly, Cholestasis, Leukopenia, Hepatic... OMIM:300972
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Igg4-Related Kidney Disease
Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Cholecystitis, Abnormal ureter morph... ORPHA:449395
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Hypertrophic cardiomyopathy, R... OMIM:276700
Mucopolysaccharidosis Type 2
Hepatomegaly, Hyperactivity, Irregularity of vertebral bodies, Abnormal heart valve morphology, A... ORPHA:580
Isolated Biliary Atresia
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi... ORPHA:30391
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Depression, Leukopenia, ... ORPHA:536
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... OMIM:232220
Choreoacanthocytosis
Compulsive behaviors, Loss of ambulation, Hepatomegaly, Self-mutilation of tongue and lips due to... ORPHA:2388
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia, Pulmonic s... ORPHA:100078
Crimean-Congo Hemorrhagic Fever
Anorexia, Leukopenia, Cholecystitis, Hepatomegaly, Neutrophilia, Pericardial effusion, Leukocytos... ORPHA:99827
Gaucher Disease
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal... ORPHA:355
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Glandular hypospadias, Cardiomegaly OMIM:620306
Marburg Hemorrhagic Fever
Back pain, Reticulocytosis, Lymphopenia, Pericarditis, Renal insufficiency, Anorexia, Aggressive ... ORPHA:99826
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Thrombocytosis, Chronic myelogenous leukemia ORPHA:71493
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Bicuspid aortic valve, Short neck, Cardiomegaly, Mitral valve prolapse, Pla... OMIM:245600
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Short neck, Microvesicular hepatic steatosis, Secundum atria... OMIM:300855
Osteogenesis Imperfecta
Abnormal endocardium morphology, Ataxia, Cervical kyphosis, Kyphosis, Vertebral compression fract... ORPHA:666
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
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
Lymphangioleiomyomatosis
Abnormal urinary color, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, H... ORPHA:538
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... OMIM:619573
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag... OMIM:249100
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Inability to walk, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery ... OMIM:617913
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Familial Tumoral Calcinosis
Nephrocalcinosis, Splenomegaly, Hepatomegaly ORPHA:53715
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Hyperlordosis, Cardiomegaly, Inability to walk, Oligosacchariduria, Scoliosis, Dysp... ORPHA:365
Coccidioidomycosis
Pericarditis, Renal insufficiency, Eosinophilia, Abnormality of the spleen, Mediastinal lymphaden... ORPHA:228123
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Beckwith-Wiedemann Syndrome
Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas... ORPHA:116
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... ORPHA:567983
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiomyop... ORPHA:565612
Lymphatic Malformation 6
Splenomegaly, Hydrocele testis, Scoliosis, Atrial septal defect, Intestinal lymphangiectasia, Asc... OMIM:616843
Primary Sclerosing Cholangitis
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Renal insufficiency, Portal hyp... ORPHA:171
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morph... ORPHA:449432
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal form of the vertebral bodies, ... ORPHA:904
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Pericardial effusion, Splenome... OMIM:181000
Danon Disease
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... OMIM:300257
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Anemia ORPHA:667
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... ORPHA:308552
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Elevated hemoglobin A1c, Splenomegaly, Nephr... OMIM:269700
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, ... OMIM:188400
African Trypanosomiasis
Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Akinesia, Aggressive behav... ORPHA:3385
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly OMIM:615947
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... ORPHA:331235
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Thyroid C cell hyperplasia, Hyperlordosis, Kyphoscoliosis, ... ORPHA:653
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... OMIM:261740
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Parotitis, Eosinophilia, Portal hypertension... ORPHA:797
Myhre Syndrome
Vertebral fusion, Ventricular septal defect, Ataxia, Short neck, Pericardial effusion, Cryptorchi... OMIM:139210
Leptospirosis
Hepatomegaly, Pericarditis, Anorexia, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopath... ORPHA:509
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti... ORPHA:744
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Lethargy ORPHA:137675
Primary Sjögren Syndrome
Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Parotitis, Glomerulonephritis, ... ORPHA:289390
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ... OMIM:130650
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Lymphadenopathy, Thromboc... OMIM:256040
Riddle Syndrome
Generalized lymphadenopathy, Ataxia, Enuresis nocturna, Gait disturbance, Emotional lability ORPHA:420741
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Splenomegaly, Nephrolithiasis, Polycystic ov... OMIM:608594
Bohring-Opitz Syndrome
Cardiomegaly, Inability to walk, Abnormal cardiac septum morphology, Urinary retention, Cholelith... ORPHA:97297
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Tricuspid stenosis, Ovarian neopla... ORPHA:100079
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Malakoplakia
Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Urinary urg... ORPHA:556
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Anorexia, Follicular hyperplasia, Splenomegaly, Hepatitis,... OMIM:619381
Blau Syndrome
Pericarditis, Splenomegaly, Stage 5 chronic kidney disease, Lymphadenopathy, Abnormality of the l... ORPHA:90340
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Anorexia, Pancr... ORPHA:99889
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland... ORPHA:79078
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Compulsive behaviors, Vesicour... ORPHA:353281
Plague
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenitis, Unsteady gait, Endocarditis, Enlarged mesent... ORPHA:707
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... ORPHA:1677
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Scoliosis, Cardiomegaly ORPHA:91387
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Splenomegaly, Anterior beaking of lumbar vertebrae, Scolios... ORPHA:93
Cherubism
Submandibular lymph node enlargement OMIM:118400
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Paternal Uniparental Disomy Of Chromosome 6
Cryptorchidism, Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Igg4-Related Ophthalmic Disease
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormality of the anterior pituit... ORPHA:449563
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Hepatic calcifica... ORPHA:51608
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy, Depression ORPHA:324625
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ... ORPHA:3472
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Singleton-Merten Syndrome 1
Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Scoliosis, S... 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 Fbxo25

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 Fbxo25.

No publications found that use IMPC mice or data for Fbxo25.

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
Fbxo25em1(IMPC)Ccpcz Exon Deletion Mice

The IMPC Newsletter

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

Subscribe to newsletter