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Gene: Angpt2 MGI:1202890

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Gene Summary

Name:
angiopoietin 2
Synonyms:
Ang2,  Ang-2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal lymph node morphology Angpt2em1(IMPC)Mbp HOM Early adult 0.00
preweaning lethality, incomplete penetrance Angpt2em1(IMPC)Mbp HOM   Early adult 0.00
abnormal thymus morphology Angpt2em1(IMPC)Mbp HOM Early adult 0.00
small seminal vesicle Angpt2em1(IMPC)Mbp HOM Early adult 0.00
small thymus Angpt2em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Angpt2em1(IMPC)Mbp HET Early adult 0.00
enlarged lymph nodes Angpt2em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Angpt2em1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Angpt2 mutations

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

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

The table below shows human diseases associated to Angpt2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Milroy Disease
Predominantly lower limb lymphedema, Pedal edema, Lymphedema ORPHA:79452

The table below shows human diseases predicted to be associated to Angpt2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Lymphedema, Epiretinal membrane, Tractional r... ORPHA:891
Eales Disease
Epistaxis, Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularizatio... ORPHA:40923
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal large intestine morphology, Ascite... ORPHA:2198
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Dehydration OMIM:251850
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Alpha-Heavy Chain Disease
Ascites, Abnormal small intestine morphology, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:100025
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effu... ORPHA:2414
Kerion Celsi
Lymphadenopathy ORPHA:499
Fetal Parvovirus Syndrome
Ascites, Increased nuchal translucency, Hydrops fetalis, Hypertrophic cardiomyopathy ORPHA:295
Chylous Ascites
Ascites, Abnormal intestine morphology, Lymphedema ORPHA:1160
Ascites, Chylous
Chylous ascites OMIM:208300
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetalis, Abnormality ... ORPHA:1041
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Ascites, Portal hypertension, Splenomegaly, Petechiae, Ecchymosis, Hepatomegaly, Esoph... OMIM:619463
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Pseudomyxoma Peritonei
Ascites, Inflammation of the large intestine, Lymphadenopathy, Intestinal obstruction ORPHA:26790
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Right ventricular failure,... ORPHA:90363
Sialidosis Type 2
Abnormal macular morphology, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis, Pedal edema ORPHA:87876
Congenital Toxoplasmosis
Ascites, Hepatomegaly, Abnormality of retinal pigmentation, Lymphadenopathy ORPHA:858
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Ascites, Tricuspid regurgitation, Hepatomegaly, Pulmonary insufficien... OMIM:619433
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Nephrosialidosis
Ascites, Pericardial effusion OMIM:256150
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Hepatomegaly, Hydrops fetalis, Patent ductus arteriosus ORPHA:2123
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Primary Intestinal Lymphangiectasia
Generalized edema, Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia,... ORPHA:90362
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Lymphedema, Palpebral edema, Telangiecta... OMIM:137940
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Abnormalit... ORPHA:69735
Congenital Disorder Of Glycosylation, Type Iir
Ascites, Hepatomegaly, Cutis laxa OMIM:301045
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Oligohydramnios, Polyhydramnios, Splenomegaly ORPHA:1046
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Macular edema, Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Tel... ORPHA:247691
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Ascites, Hypertrophic cardiomyopathy, Oligohydramnios, Pleural effusion, Bradycard... OMIM:614702
Glycogen Storage Disease Iv
Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension, Esophageal varix, Bradycardia, ... OMIM:232500
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Splenomegaly, Hepatomegaly, High palate, Hydrops fetalis OMIM:269920
Focal Segmental Glomerulosclerosis 1
Ascites, Pleural effusion, Edema, Hypertension OMIM:603278
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Congenital Tufting Enteropathy
Optic disc coloboma, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small... ORPHA:92050
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune thrombocytope... ORPHA:444463
Hepatic Veno-Occlusive Disease
Ascites, Hepatomegaly ORPHA:890
Splenoportal Vascular Anomalies
Ascites, Splenomegaly OMIM:271500
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Ascites, Oligohydramnios, Neonatal death, Hepatomegaly, Patent ductus... OMIM:608104
Mulibrey Nanism
Pigmentary retinopathy, Microglossia, Congestive heart failure, Ascites, Hepatomegaly, Hydrops fe... OMIM:253250
Neuraminidase Deficiency
Facial edema, Cardiomyopathy, Cherry red spot of the macula, Ascites, Splenomegaly, Hepatomegaly,... OMIM:256550
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Cleft palate OMIM:619074
Free Sialic Acid Storage Disease
Skin ulcer, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis ORPHA:834
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Villous atrophy, Lymphangiectasis, Hepatomegaly, Edema, Steatorrhea OMIM:602579
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly, Polyhydramnios, Hydrops fetalis OMIM:619462
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites OMIM:174050
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Internal hemo... ORPHA:90308
Alg8-Cdg
Optic atrophy, Premature skin wrinkling, Ascites, Oligohydramnios, Retinopathy, Cutis laxa, Abnor... ORPHA:79325
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology ORPHA:97290
Congenital Disorder Of Glycosylation, Type Il
Ascites, Villous atrophy, Splenomegaly, Hepatomegaly, Hydrops fetalis, Pericardial effusion OMIM:608776
Congenital Sialidosis Type 2
Optic atrophy, Cherry red spot of the macula, Ascites, Abnormal EKG, Hepatosplenomegaly, Petechia... ORPHA:93400
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Wolman Disease
Ascites, Splenomegaly, Hepatomegaly, Esophageal varix, Steatorrhea ORPHA:75233
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology ORPHA:319487
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Skin ulcer, Ascites, Abnormal gastric mucosa morphology, Tel... ORPHA:779
Eosinophilic Gastroenteritis
Hematochezia, Protein-losing enteropathy, Ascites, Abnormality of the gastrointestinal tract, Ste... ORPHA:2070
Microvillus Inclusion Disease
Abnormal small intestinal villus morphology, Villous atrophy, Dehydration, Hypovolemia ORPHA:2290
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Generalized edema, Pulmonary embolism, Intestinal lymphangiectasia, Ascites, Budd-Chiari syndrome... OMIM:226300
Secondary Short Bowel Syndrome
Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Small inte... ORPHA:95427
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Dermal translucency, Hepatosplenomegaly, Oligohydramnios, Esophagitis ORPHA:541423
Diarrhea 9
Villous atrophy OMIM:618168
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Ascites, Pleural effusion, Splenomegaly, Telangiectasia... OMIM:235200
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Webbed neck, Bifid uvula, Optic nerve hypoplasia, Hypertrophic cardiomyopathy, Tricuspid regurgit... OMIM:617506
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Intestinal bleeding, Oral leukoplakia, Gastrointestinal telangiectasia, Exudative ... OMIM:612199
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2
Dermal translucency, Arterial rupture OMIM:619120
Cutis Laxa, Autosomal Recessive, Type Iiib
Thin skin, Excessive wrinkled skin, Cutis laxa, Dermal translucency, Pyloric stenosis OMIM:614438
Malignant Peritoneal Mesothelioma
Ascites, Ileus, Pedal edema ORPHA:168811
Lactase Deficiency, Congenital
Decreased small intestinal mucosa lactase level, Dehydration OMIM:223000
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Lymphatic Malformation 6
Facial edema, Webbed neck, Generalized edema, Gastroesophageal reflux, Chylothorax, Lymphedema, A... OMIM:616843
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Combined Oxidative Phosphorylation Deficiency 5
Ascites, Hypertrophic cardiomyopathy, Edema, Redundant neck skin OMIM:611719
Lactose Intolerance, Adult Type
Decreased small intestinal mucosa lactase level OMIM:223100
Tempi Syndrome
Ascites, Transudative pleural effusion, Telangiectasia, Facial erythema, Intracranial hemorrhage ORPHA:284227
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level ORPHA:103907
Niemann-Pick Disease, Type A
Cherry red spot of the macula, Ascites, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:257200
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
De Barsy Syndrome
Abnormal fundus fluorescein angiography, Excessive wrinkled skin, Cutis laxa, Dermal translucency... ORPHA:2962
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Pseudo-Torch Syndrome 2
Ascites, Pleural effusion, Petechiae, Bradycardia, Cerebral hemorrhage, Hepatomegaly, Patent duct... OMIM:617397
Desmoplastic Small Round Cell Tumor
Ascites, Ileus, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:83469
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Diffuse alveolar hemorrhage, Villous atrophy, Splenomegaly OMIM:616050
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Portal hypertension, Splenome... ORPHA:131
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Perioral erythema, Perianal erythema, Duodenitis OMIM:614328
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Optic atrophy, Villous atrophy, High palate, Iris coloboma OMIM:601110
Hypocomplementemic Urticarial Vasculitis
Angioedema, Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Lymphadenopathy, Pericardial e... ORPHA:36412
Familial Atrial Myxoma
Congestive heart failure, Ascites, Tricuspid regurgitation, Heart murmur, Pedal edema ORPHA:615
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Decreased proportion of CD4-positive helper ... ORPHA:543
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Lymphedema, Ascites, Pancreatic lymphangiectasis, Splenomegaly, Redun... OMIM:235255
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Congestive heart failure, Ascites, Hepatosplenomegaly, Portal hypertensio... ORPHA:367
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Dermal translucency, Arterial rupture OMIM:619115
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Dermal translucency, Cutis laxa, Premature skin wrinkling OMIM:616603
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Lymphoproliferative Syndrome 2
Ascites, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:615122
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Pulmon... OMIM:617021
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Griscelli Syndrome
Ascites, Splenomegaly, Lymphadenopathy, Hepatomegaly, Pedal edema, Pyloric stenosis ORPHA:381
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Dermal translucency ORPHA:529965
Dengue Fever
Epistaxis, Hypotension, Gastrointestinal hemorrhage, Ascites, Petechiae, Cerebral hemorrhage, Hep... ORPHA:99828
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Netherton Syndrome
Angioedema, Hypernatremic dehydration, Recurrent infection of the gastrointestinal tract, Villous... OMIM:256500
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Ascites, Hypertrophic cardiomyopathy, Transient... OMIM:115197
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Pilarowski-Bjornsson Syndrome
Dermal translucency OMIM:617682
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Ascites, Hypersplenism, Portal hypertension, Splenomegaly, Gastric v... ORPHA:64743
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Cirrhotic Cardiomyopathy
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Pe... ORPHA:57777
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Psoriasiform lesion, Villous atrophy, Sp... OMIM:614700
Mitchell-Riley Syndrome
Meckel diverticulum, Anteriorly placed anus, Ascites, Intestinal malrotation, Jejunal atresia, Ac... OMIM:615710
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia OMIM:618987
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... OMIM:619924
Gracile Bone Dysplasia
Ascites, Ankyloglossia, Aniridia, Asplenia, Hypoplastic spleen OMIM:602361
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly, Lymphadenopathy ORPHA:100024
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Psoriasiform dermatitis, Villous atrophy, Lymphadenopathy, Scaling skin, Enla... OMIM:606367
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy ORPHA:100083
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Lymphatic Malformation 13
Lymphedema, Ascites, Mitral regurgitation, Nonimmune hydrops fetalis, Neonatal death, Pulmonary a... OMIM:620244
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Dermal translucency, Blepharochalasis, Redundant skin OMIM:225410
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia OMIM:603552
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased proportio... OMIM:300853
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Protein-losing enteropathy, Anasarca, Ascites, Pleural effusion, Polyhydramnios, Co... OMIM:618183
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Webbed neck, Ascites, Hypertrophic cardiomyopathy, Pleural effusion, Polyhydramnios, Hydrops feta... OMIM:616897
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Oligohydramnios, Peripapillary atrophy, Dermal translucency, High palate, Thin skin ORPHA:536467
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Ascites, Hepatosplenomegaly, Hypersplenism, Portal hype... ORPHA:98850
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Tafro Syndrome
Anasarca, Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:457077
Aicardi-Goutieres Syndrome 9
Optic atrophy, Ascites, Dry skin, Hepatosplenomegaly, Portal hypertension, Chorioretinal atrophy,... OMIM:619487
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia OMIM:608184
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegal... ORPHA:1655
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocytosis, Leuk... OMIM:614470
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Dermal translucency, Cutis laxa, Cleft palate OMIM:615349
Ovarian Fibroma
Ascites, Pleural effusion ORPHA:314473
Poems Syndrome
Visceromegaly, Ascites, Pleural effusion, Splenomegaly, Hepatomegaly, Papilledema, Pulmonary arte... ORPHA:2905
Trichohepatoenteric Syndrome 2
Hepatomegaly, Colitis, Villous atrophy OMIM:614602
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Diffuse alveolar hemorrhage, Gastrointestinal hemorrhage, Melena, Ascites, Hypertro... ORPHA:464321
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Spider hemangioma, Ascites, Spl... ORPHA:2137
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testi... ORPHA:54251
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Anasarca, Cardiomyopathy, Congestive heart failure, Ascites, Hypertrop... OMIM:261740
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... OMIM:209950
Xfe Progeroid Syndrome
Optic atrophy, Ascites, Dry skin, Attenuation of retinal blood vessels, Hypertension OMIM:610965
Pediatric Systemic Lupus Erythematosus
Ascites, Pleural effusion, Abnormality of the gastrointestinal tract, Lymphadenopathy, Raynaud ph... ORPHA:93552
Gaucher Disease, Perinatal Lethal
Ascites, Hepatosplenomegaly, Petechiae, Splenomegaly, Nonimmune hydrops fetalis, Neonatal death, ... OMIM:608013
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Dilated cardiomyopathy, Anasarca, Third degree atrioventricular block, Ascite... OMIM:619573
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Steatorrhea, Villous atrophy, Nonimmune hydrops fetalis, Hepatomegaly, Rod-cone d... OMIM:212065
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Ovarian Hyperstimulation Syndrome
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Capillary leak, ... ORPHA:64739
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Cholestasis, Progressive Familial Intrahepatic, 3
Ascites, Hepatomegaly, Splenomegaly OMIM:602347
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Cirrhosis, Familial
Ascites, Pulmonary arterial hypertension, Hypertension, Esophageal varix OMIM:215600
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Lymphangioleiomyomatosis
Optic atrophy, Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Pulmonary lymphangi... ORPHA:538
Fontaine Progeroid Syndrome
High, narrow palate, Gastroesophageal reflux, Anteriorly placed anus, Premature skin wrinkling, T... OMIM:612289
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Oligohydramnios, Neonatal death, Cutis laxa, Pulmonary arterial hyperten... OMIM:614437
Farber Disease
Macular degeneration, Cherry red spot of the macula, Ascites, Hepatosplenomegaly, Joint swelling,... ORPHA:333
Primary Hepatic Neuroendocrine Carcinoma
Right ventricular failure, Ascites, Palpitations, Chronic noninfectious lymphadenopathy, Facial t... ORPHA:100085
Refractory Celiac Disease
Villous atrophy, Abnormal spleen physiology, Protein-losing enteropathy, Jejunitis ORPHA:398063
Carney Triad
Gastrointestinal hemorrhage, Ascites, Hypertension, Arrhythmia, Gastrointestinal stroma tumor, Ly... ORPHA:139411
Classic Galactosemia
Ascites, Hepatomegaly ORPHA:79239
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Dermal translucency, Pulmonic stenosis OMIM:618343
Cutis Marmorata Telangiectatica Congenita
Ascites, Telangiectasia of the skin, Retinal detachment, Purpura, Patent ductus arteriosus ORPHA:1556
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Pulmonary embolism, Anasarca, Ascites, Pleural effusion, Palpebral edema, Hypertens... ORPHA:567546
Immunodeficiency 22
Ascites, Pericarditis, Capillary leak, Retinal vasculitis OMIM:615758
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells OMIM:620282
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Ascites, Mitral regurgitation, Pericarditis ORPHA:2848
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy... ORPHA:277
Mucopolysaccharidosis Type 7
Ascites, Hydrops fetalis, Splenomegaly, Lymphedema ORPHA:584
Short-Rib Thoracic Dysplasia 12
Ascites, Hamartoma of tongue, Intestinal malrotation, Polyhydramnios, Splenomegaly, Median cleft ... OMIM:269860
Ovarian Fibrothecoma
Ascites, Pleural effusion ORPHA:314478
Fumarase Deficiency
Optic atrophy, Ascites, Pallor, Polyhydramnios, High palate, Necrotizing enterocolitis OMIM:606812
Familial Mediterranean Fever
Erythema, Vasculitis, Oral leukoplakia, Ascites, Gastrointestinal infarctions, Splenomegaly, Inte... ORPHA:342
Sclerosing Cholangitis, Neonatal
Ascites, Portal hypertension, Splenomegaly, Acholic stools, Hepatomegaly OMIM:617394
Syndromic Diarrhea
Aortic regurgitation, Dry skin, Villous atrophy, Splenomegaly, Hypoplasia of the thymus, Hepatobl... ORPHA:84064
Barber-Say Syndrome
Velopharyngeal insufficiency, Premature skin wrinkling, Dry skin, Redundant skin, Dermal transluc... OMIM:209885
Acrocephalopolydactylous Dysplasia
Polysplenia, Ascites, Hypoplastic colon, Hepatomegaly, Hypoplasia of the small intestine OMIM:200995
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Small bowel diverticula, Premature skin wrinkling, Congestive heart failure... ORPHA:90348
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Pleural effusion, Nonimmune hydrops fetalis OMIM:617049
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Abnormal m... ORPHA:98848
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Lymphadenopathy, Ileus OMIM:304790
Immunodeficiency, Common Variable, 2
Splenomegaly, Abnormal T cell count, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Villous atrophy, Ileoileal intussusception, Dehydration OMIM:619377
Restrictive Dermopathy
Webbed neck, Microcolon, Submucous cleft hard palate, Scaling skin, Polyhydramnios, Dermal transl... ORPHA:1662
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob... ORPHA:231736
Liver Disease, Severe Congenital
Protein-losing enteropathy, Ascites, Chronic gastritis, Splenomegaly, Pulmonary edema, Hepatomega... OMIM:619991
Schnitzler Syndrome
Anemia, Splenomegaly, Leukocytosis, Lymphadenopathy ORPHA:37748
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia OMIM:620514
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:618495
Immunodeficiency 54
Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:609981
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Ascites, Hepatosplenomegaly, Pulmonary hemorrhage, Portal ... ORPHA:79124
Immunodeficiency 31C
Protein-losing enteropathy, Villous atrophy, Splenomegaly, Lymphadenopathy, Hepatomegaly, Gastroi... OMIM:614162
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Ascites, Hepatosplenomegaly, Splenomegaly, Stillbirth, Hepatomegaly, Optic disc pa... OMIM:259720
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes OMIM:246700
Gaucher Disease Type 1
Splenic infarction, Ascites, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Splenomegaly... ORPHA:77259
Pearson Marrow-Pancreas Syndrome
Erythema, Villous atrophy, Pallor, Hepatomegaly, Hydrops fetalis, Dehydration, Steatorrhea OMIM:557000
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... OMIM:615237
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia OMIM:615387
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:601859
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Gastroesophageal reflux, Ascites, Redundant skin, Hypoplasia of the thymus, Cut... OMIM:613177
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Ascites, Portal hypertension, Pulmonary arterial hypertension, Esoph... ORPHA:974
Classic Mycosis Fungoides
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short uvula, Ascites, High palate, Hydrops fetalis, Cleft palate OMIM:614091
Necrotizing Enterocolitis
Hypotension, Ascites, Shock, Bradycardia, Edema ORPHA:391673
Hennekam Syndrome
Chylothorax, Lymphedema, Ascites, Lymphangioma, Splenomegaly, Lymphadenopathy, Pulmonary lymphang... ORPHA:2136
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Perlman Syndrome
Distal ileal atresia, Visceromegaly, Volvulus, Ascites, Polyhydramnios, Edema OMIM:267000
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:603909
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Loeys-Dietz Syndrome 6
Bifid uvula, Broad uvula, Striae distensae, Transient ischemic attack, Dermal translucency, High ... OMIM:619656
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Ascites, Bundle branch block, He... ORPHA:99827
Primary Biliary Cholangitis
Ascites, Portal hypertension, Splenomegaly, Orthostatic hypotension, Gastrointestinal inflammatio... ORPHA:186
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat... ORPHA:3392
Thyroid Lymphoma
Lymphadenopathy, Goiter ORPHA:97285
Cold Agglutinin Disease
Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Fibromuscular Dysplasia, Multifocal
Hiatus hernia, Dermal translucency, High palate, Striae distensae OMIM:619329
Primary Sclerosing Cholangitis
Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Ascites, Hepatosplenomegaly, ... ORPHA:171
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Patent ductus arteriosus, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Caroli Disease
Ascites, Portal hypertension, Splenomegaly, Cholangiocarcinoma, Hepatomegaly, Esophageal varix ORPHA:53035
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Ascites, Pleural effusion, Splenomegaly, Lymphadenopathy, Rectal abscess, Hepatome... OMIM:306400
Medullary Thyroid Carcinoma
Nodular goiter, Pheochromocytoma, Lymphadenopathy, Primary hyperparathyroidism ORPHA:1332
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia ORPHA:397596
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ... OMIM:603554
Leishmaniasis
Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Thromboc... ORPHA:507
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia ORPHA:79477
Lymphatic Malformation 12
Fetal ascites, Lymphedema, Neonatal death, Nonimmune hydrops fetalis, Polyhydramnios OMIM:620014
Immunodeficiency 85 And Autoimmunity
Villous atrophy OMIM:619510
Thymic Neuroendocrine Tumor
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... ORPHA:97289
Chondrodysplasia, Blomstrand Type
Polyhydramnios, Fetal ascites, Hydrops fetalis, Stillbirth OMIM:215045
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Proprotein Convertase 1/3 Deficiency
Villous atrophy OMIM:600955
Gallbladder Neuroendocrine Tumor
Ascites, Biliary tract neoplasm, Chronic noninfectious lymphadenopathy ORPHA:100086
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Bifid uvula, Villous atrophy, Splenomegaly, Hepatomegaly, Polyhydramnios, P... OMIM:222470
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Fraser Syndrome 3
Ascites, Oligohydramnios, Stillbirth, Nonimmune hydrops fetalis OMIM:617667
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Aspl... OMIM:614034
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Ascites, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:251880
Loeys-Dietz Syndrome 1
Bifid uvula, Striae distensae, Eosinophilic infiltration of the esophagus, Dermal translucency, H... OMIM:609192
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Wolcott-Rallison Syndrome
Ascites, Hepatomegaly, Dehydration ORPHA:1667
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Ascites, Increased nuchal translucency, Stomach cancer, Intestinal polyposi... ORPHA:1052
Anaplastic Thyroid Carcinoma
Nodular goiter, Lymphadenopathy, Goiter ORPHA:142
Congenital Myopathy 22B, Severe Fetal
Ascites, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Hepatomegaly, High palate OMIM:620369
Eisenmenger Syndrome
Elevated jugular venous pressure, Hepatomegaly, Patent ductus arteriosus, Pedal edema, Right vent... ORPHA:97214
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Villous atrophy, Splenomegaly, Joint swelling, Follicular hyperplasia, Crohn... OMIM:619381
Alg9-Cdg
Bifid uvula, Gastroesophageal reflux, Tricuspid regurgitation, Oligohydramnios, Villous atrophy, ... ORPHA:79328
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Grfoma
Gastrointestinal hemorrhage, Abnormal abdomen morphology, Ascites, Neoplasm of the thymus, Intest... ORPHA:97261
Mhc Class Ii Deficiency 1
Colitis, Villous atrophy OMIM:209920
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Lysosomal Acid Lipase Deficiency
Hypotension, Ascites, Hepatosplenomegaly, Hypersplenism, Pulmonary arterial hypertension, Esophag... ORPHA:275761
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy, Dehydration, Edema ORPHA:103910
Loeys-Dietz Syndrome 3
Aortic regurgitation, Bifid uvula, Striae distensae, Cystocele, Mitral regurgitation, Subarachnoi... OMIM:613795
Wiedemann-Rautenstrauch Syndrome
Optic atrophy, Pigmentary retinopathy, Optic disc hypoplasia, Premature skin wrinkling, Submucous... ORPHA:3455
Loeys-Dietz Syndrome 2
Bifid uvula, Striae distensae, Eosinophilic infiltration of the esophagus, Dermal translucency, P... OMIM:610168
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Ascites, Hepatosplenomegaly, Oligohydram... ORPHA:731
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Portal hypertension, Splenomegaly ORPHA:567983
Glucagonoma
Gastrointestinal hemorrhage, Abnormal abdomen morphology, Abnormal gastrointestinal motility, Asc... ORPHA:97280
Senior-Boichis Syndrome
Ascites, Hepatosplenomegaly, Portal hypertension, Hypertension, Esophageal varix ORPHA:84081
Pancreatoblastoma
Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Throm... ORPHA:100026
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Ascites, Hypertrophic cardiomyopathy, Splenomegaly, Paralytic ileus,... OMIM:276700
Chronic Graft Versus Host Disease
Erythema, Gastroesophageal reflux, Xerostomia, Skin ulcer, Ascites, Abnormal esophagus physiology... ORPHA:99921
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Rhabdoid Tumor
Anemia, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Vipoma
Erythema, Abnormal abdomen morphology, Abnormal gastrointestinal motility, Ascites, Neoplasm of t... ORPHA:97282
Intrahepatic Cholestasis Of Pregnancy
Ascites ORPHA:69665
Ppoma
Gastrointestinal hemorrhage, Abnormal abdomen morphology, Ascites, Intestinal obstruction, Neopla... ORPHA:97278
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, ... OMIM:618935
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Congestive heart failure, Hepatosplenomegaly, Villous atrophy, Abnormal int... ORPHA:391487
Functioning Gonadotropic Adenoma
Ascites ORPHA:91348
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Hypogonadotropic hypogonadism, Lymphadenopathy ORPHA:353298
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia ORPHA:83313
Somatostatinoma
Gastrointestinal hemorrhage, Abnormal abdomen morphology, Ascites, Intestinal obstruction, Neopla... ORPHA:97283
Peripheral Primitive Neuroectodermal Tumor
Ascites, Pelvic mass ORPHA:370348
Nephroblastoma
Lymphadenopathy ORPHA:654
Lig4 Syndrome
Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hypoplasia of penis ORPHA:99812
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Gastrointestinal infarctions, Transient ischemic attack, Cystocele, Redundan... ORPHA:286
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc... OMIM:618048
Lymphatic Filariasis
Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Orchitis, Abnormality of the lymph... ORPHA:2035
Alg6-Cdg
Protein-losing enteropathy, Macroglossia, Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Hypogonadism, Hepatosplenomegaly, Lymphadenopathy, Oligozoospermi... ORPHA:85450
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Lymphadenopathy... ORPHA:2686
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in pre... OMIM:613179
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Ascites, Hepatomegaly, Acral ulceration, Hepatocellular carcinoma OMIM:256810
Sézary Syndrome
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Papa Syndrome
Lymphadenopathy ORPHA:69126
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Roifman Syndrome
Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage, Portal hypertension, Hepatomegaly, Edema ORPHA:79319
Rajab Interstitial Lung Disease With Brain Calcifications 1
Gastroesophageal reflux, Anasarca, Ascites, Intestinal malrotation, Oligohydramnios, Portal hyper... OMIM:613658
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosis OMIM:619644
Omenn Syndrome
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Lymphadenopathy, Anemia ORPHA:39041
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia OMIM:616100
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Protein-losing enteropathy, Lymphedema OMIM:618154
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Atresia Of Urethra
Ascites, Pulmonary insufficiency, Oligohydramnios ORPHA:105
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Arterial rupture, Cystocele, Hemothorax, Ecchymosis, Dermal transluc... OMIM:130050
Systemic Sclerosis
Intestinal bleeding, Digital ulcer, Telangiectasia, Dysphagia, Gastroesophageal reflux, Right ven... ORPHA:90291
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ascites, Hepatomegaly, Splenomegaly OMIM:301072
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Pate... OMIM:300048
Wilson Disease
Ascites, Splenomegaly, Esophageal varix, Hepatocellular carcinoma, Hepatomegaly, Dysphagia, Edema... OMIM:277900
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, Oligohydramnios, Macular hypoplasia,... OMIM:609049
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Ascites, Polyhydramnios, Congestive heart failure OMIM:617156
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... ORPHA:514
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ... ORPHA:98813
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Cinca Syndrome
Leukocytosis, Splenomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Abnormal granulo... ORPHA:1451
Vascular Hyalinosis
Chorioretinal scar, Protein-losing enteropathy, Hematochezia, Subarachnoid hemorrhage OMIM:277175
Castleman Disease
Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy, Thrombocytopenia, Anemia, D... ORPHA:160
Immunodeficiency 10
Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Autoimmune... OMIM:612783
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, Neutr... ORPHA:47612
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Myeloproliferative disorder, Lymphadenopathy, Lymphocytosis ORPHA:79456
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia, Abnormal ... ORPHA:158061
Congenital Tracheal Stenosis
Fetal ascites, Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Oligohydramni... ORPHA:141127
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy ORPHA:33276
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Generalized Arterial Calcification Of Infancy
Choroidal neovascularization, Ascites, Left ventricular systolic dysfunction, Transient ischemic ... ORPHA:51608
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Generalized edema, Bidirectional shunt, Gastroesophageal reflux, Ascites, T... OMIM:619534
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:169090
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Niemann-Pick Disease Type C
Fetal ascites, Ascites, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Hydrops fetalis, Dysphagia ORPHA:646
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Prostatitis, Neutropenia, B lymphocytopenia, Anemia, T lymphocytopenia, Ep... OMIM:300755
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ascites, Hepatomegaly, Anasarca OMIM:203700
Congenital Enterovirus Infection
Fetal ascites, Hypotension, Cardiomyopathy, Pleural effusion, Myocarditis, Polyhydramnios, Hydrop... ORPHA:292
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Acute Promyelocytic Leukemia
Leukopenia, Pancytopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Adult-Onset Still Disease
Bone marrow hypocellularity, Leukocytosis, Splenomegaly, Generalized lymphadenopathy, Lymphadenop... ORPHA:829
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia OMIM:617099
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Hemorrhage of the eye, Tractional retinal detachme... ORPHA:91495
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Narrow palate, Lymphedema, Intestinal lymphangiectasia, Pleural effus... OMIM:235510
Atelis Syndrome 2
Gastroesophageal reflux, Vitreous hemorrhage, Remnants of the hyaloid vascular system, Supravalva... OMIM:620185
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Lymphadenopathy, Th... OMIM:603553
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,... OMIM:600802
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:267700
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:617591
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, L... OMIM:214500
Oculopalatocerebral Syndrome
Cleft palate, Remnants of the hyaloid vascular system OMIM:257910
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Splenomegaly, Thrombocytopenia, Neutropenia, Enlarged tons... OMIM:308230
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia ORPHA:540
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Lymphadenopathy, Thrombocytopenia, An... OMIM:610377
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia OMIM:617827
Legionnaires Disease
Bone marrow hypocellularity, Lymphopenia, Lymphadenopathy, Splenomegaly ORPHA:549
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis OMIM:233710
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop... OMIM:615934
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan... ORPHA:50918
Malt Lymphoma
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Mixed Connective Tissue Disease
Leukopenia, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:809
H Syndrome
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Azoospermia, Hypogonadism, Lymp... ORPHA:168569
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia OMIM:260920
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia ORPHA:293173
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis OMIM:233690
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Coombs-positive hemolytic anemia, L... ORPHA:83471
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Juvenile Polyposis Syndrome
Colon cancer, Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Ju... ORPHA:2929
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Anemia OMIM:615895
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Protein-losing enteropathy, Gastrointestinal carcinoma, Xerostomia, Glossitis, Hama... OMIM:175500
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Dysphagia, Splenomegaly OMIM:257220
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno... OMIM:602782
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Cleft palate, Retinal detachment, Remnants of the hyaloid vascular system ORPHA:2714
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Hepatosplenomegaly, Lymphadenopathy, Ovarian carcinoma ORPHA:1333
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis, Lymphadenopathy ORPHA:139402
Johanson-Blizzard Syndrome
Generalized edema, Colonic diverticula, Dilated cardiomyopathy, Anasarca, Anteriorly placed anus,... OMIM:243800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... OMIM:614643
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... OMIM:617718
Niemann-Pick Disease, Type C2
Fetal ascites, Splenomegaly, Hepatomegaly, Polyhydramnios, Dysphagia OMIM:607625
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Hyphema, Remnants of the hyaloid vascular system, Retinal fold, Iris coloboma OMIM:221900
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Meckel diverticulum, Right-to-left shunt, Intestinal malrot... OMIM:265380
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia, Hemolytic anemia ORPHA:1572
Visceral Myopathy 1
Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... OMIM:155310
Waldenström Macroglobulinemia
Normocytic anemia, Splenomegaly, Lymphadenopathy, Leukemia, Abnormality of neutrophils ORPHA:33226
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel... ORPHA:3261
Juvenile Polyposis Of Infancy
High, narrow palate, Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Protein-losi... ORPHA:79076
Graft Versus Host Disease
Hepatosplenomegaly, Hemophagocytosis, Lymphadenopathy ORPHA:39812
Neuroblastoma
Anemia, Lymphadenopathy, Thrombocytopenia ORPHA:635
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto... OMIM:615688
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy ORPHA:100080
Bronchial Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentration ORPHA:97287
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Tangier Disease
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocyto... ORPHA:31150
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Mediastinal lymphadenopathy, Leukocytosis, Hilar lymph node enlargement OMIM:620233
Selective Igm Deficiency
Decreased proportion of transitional B cells, Lymphadenitis, Decreased proportion of CD8-positive... ORPHA:331235
Malakoplakia
Prostate neoplasm, Follicular hyperplasia, Orchitis ORPHA:556
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... ORPHA:37042
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia OMIM:607944
Congenital Syphilis
Extramedullary hematopoiesis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia ORPHA:499009
Q Fever
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia ORPHA:781
Cherubism
Submandibular lymph node enlargement OMIM:118400
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Leukocytosis, Lymphadenopathy, Orchitis ORPHA:32960
Multiple Myeloma
Anemia, Splenomegaly, Lymphadenopathy ORPHA:29073
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Polysplenia, Splenomegaly, Lymphadenopathy, Anemia OMIM:619418
D-Bifunctional Protein Deficiency
Fetal ascites, Splenomegaly, Hepatomegaly, Polyhydramnios, High palate OMIM:261515
Coccidioidomycosis
Abnormality of the male genitalia, Abnormality of the spleen, Abnormality of the female genitalia... ORPHA:228123
Full Nf2-Related Schwannomatosis
Abnormal optic nerve morphology, Epiretinal membrane, Remnants of the hyaloid vascular system, Dy... ORPHA:637
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot... ORPHA:79078
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Microphthalmia, Syndromic 2
Aortic valve stenosis, Bifid uvula, Submucous cleft hard palate, Retinal detachment, Remnants of ... OMIM:300166
Brucellosis
Leukopenia, Hypersplenism, Leukocytosis, Splenomegaly, Orchitis, Lymphadenopathy, Thrombocytopeni... ORPHA:1304
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Igg4-Related Ophthalmic Disease
Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituitary, Prostatitis, Lymphad... ORPHA:449563
Sarcoidosis
Abnormal lymph node morphology, Parotitis, Leukopenia, Enlargement of parotid gland, Increased T ... ORPHA:797
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Cervical lymphadenopathy, Pheochromocytoma, Cervical neoplasm, Parath... ORPHA:653
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy ORPHA:100078
Neuroendocrine Neoplasm Of Appendix
Adrenocorticotropic hormone excess, Ovarian neoplasm, Chronic noninfectious lymphadenopathy ORPHA:100079
Primary Sjögren Syndrome
Normocytic anemia, Parotitis, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helpe... ORPHA:289390
Acromelic Frontonasal Dysostosis
Cleft palate, Submucous cleft soft palate, Remnants of the hyaloid vascular system, Optic nerve h... OMIM:603671
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Abnormal saliv... OMIM:181000
Igg4-Related Kidney Disease
Lymphadenitis, Sialadenitis, Eosinophilia, Abnormality of the anterior pituitary, Prostatitis, Ly... ORPHA:449395
Holoprosencephaly 2
Bifid uvula, Chorioretinal coloboma, Median cleft palate, Submucous cleft hard palate, Bilateral ... OMIM:157170
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... ORPHA:99826
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Erythema, Fetal ascites, Dry skin, Hepatosplenomegaly, Oligohydramnios, Ischemic stroke, Joint sw... OMIM:619503
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia, Pheochromocytoma, Neoplas... ORPHA:99889
Autosomal Recessive Malignant Osteopetrosis
Anemia, Splenomegaly, Lymphadenopathy ORPHA:667
Behçet Disease
Splenomegaly, Lymphadenopathy, Orchitis ORPHA:117
Proteasome-Associated Autoinflammatory Syndrome 1
Parotitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Epididymitis OMIM:256040
Neuroocular Syndrome 1
Short uvula, Ankyloglossia, Submucous cleft hard palate, Hypoplasia of the fovea, Remnants of the... OMIM:619539
Chikungunya