Gene Summary

Name:
cadherin 11
Synonyms:
Cad11,  osteoblast-cadherin,  OB-cadherin

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
small liver Cdh11em1(IMPC)Mbp HOM Early adult 0.00
abnormal head size Cdh11em1(IMPC)Mbp HOM Early adult 5.05×10-05
enlarged spleen Cdh11em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Cdh11em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Cdh11em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Cdh11em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Cdh11em1(IMPC)Mbp HOM Early adult 0.00
small testis Cdh11em1(IMPC)Mbp HOM Early adult 0.00
abnormal liver morphology Cdh11em1(IMPC)Mbp HOM Early adult 0.00
abnormal snout morphology Cdh11em1(IMPC)Mbp HOM Early adult 3.59×10-09

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cdh11 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 Cdh11 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Cdh11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Nephronophthisis 16
Hepatic fibrosis, Nephronophthisis, Polycystic kidney dysplasia, Cholestasis, Renal insufficiency... OMIM:615382
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... OMIM:263200
Aa Amyloidosis
Hepatomegaly, Adrenal insufficiency, Nephrotic syndrome, Acute kidney injury, Cholestasis, Nephro... ORPHA:85445
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic cysts, Hepatic fibrosis, Asplenia, Polysplenia, Bile duct proliferation,... OMIM:208540
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Enlarged kidney OMIM:615415
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... OMIM:616217
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... ORPHA:882
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Reduced sperm motility, Pituitary growth hormone cell adenoma, Decreased glomer... ORPHA:730
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... OMIM:615234
Hemochromatosis, Type 2B
Secondary amenorrhea, Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Hypogonadism, Cirrhos... OMIM:613313
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly, Abnormal calcium-phosphate regulating hormone level, Abnormality of t... ORPHA:417
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating growth hormone conc... ORPHA:90301
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent urinary tract infections, Autoimmune hemol... OMIM:618495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Ascites, Short nose, Pancreatic fibrosis,... OMIM:200995
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic s... OMIM:617303
Amyloidosis, Familial Visceral
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria OMIM:105200
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Tyrosinemia, Type I
Renal Fanconi syndrome, Hepatomegaly, Hepatocellular carcinoma, Nephrocalcinosis, Ascites, Glomer... OMIM:276700
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... ORPHA:457083
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Galactosemia Iii
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphati... ORPHA:464329
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Diabete... OMIM:271500
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hepatocellular carcinoma, Ascites, Hyp... OMIM:235200
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... ORPHA:79301
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Microcephaly, Splenomegaly OMIM:608540
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Hydronephrosis, Hepatic calcification, Lipid accumulation in ... OMIM:608836
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... ORPHA:100024
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Renal hypoplasia/aplasia, ... ORPHA:1046
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity, Cirrhosis, Pancytopenia, Thrombocytopenia OMIM:613987
Hemochromatosis, Type 2A
Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, ... OMIM:602390
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Bone Marrow Failure Syndrome 5
Testicular atrophy, Anemia, Pure red cell aplasia, Hypogonadism, Microcephaly OMIM:618165
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
H Syndrome
Amenorrhea, Azoospermia, Lymphadenopathy, Abnormality of the kidney, Hypogonadism, Micropenis, He... ORPHA:168569
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Hepatocellular carcinoma, Decrease... OMIM:232220
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Hepatocellular carcinoma, Decreased glomerular ... OMIM:232200
Endocrine-Cerebroosteodysplasia
Hypospadias, Sex reversal, Wide nasal bridge, Micropenis, Ambiguous genitalia, Adrenal hypoplasia... OMIM:612651
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Splenomega... OMIM:602347
Trimethylaminuria
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, Gonadobl... OMIM:130650
Diaphanospondylodysostosis
Cystic renal dysplasia, Short nose, Nephrogenic rest, Nephroblastomatosis, Abnormal liver lobulat... OMIM:608022
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Elevated hepatic iron concentration, Erythr... OMIM:616860
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... OMIM:616278
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Chronic kidney disease, Eosinophilia, Lymphadeniti... ORPHA:449395
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... OMIM:214900
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Hepatomegaly, Microcephaly, Splenomegaly ORPHA:2204
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Abnorm... ORPHA:1414
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... OMIM:616828
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Adrenal calcification, Hepatic failure, Jaundice ORPHA:75234
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly ORPHA:172
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Abnormality of the lymphatic system, Nephroblastoma, Hydrocele testis... ORPHA:276280
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Increased hepatic glycogen content, Tubulointerstitial fibrosis, Menorrhagia, Nephrocalcinosis, H... ORPHA:79259
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly, Primary amenorrhea, Diabetes m... OMIM:612526
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Beta-Thalassemia Intermedia
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatosplenomegaly, Progressive microc... OMIM:610333
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anem... ORPHA:848
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Reticulocytosis,... OMIM:618892
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogonadism, Decreased testicular size, Decreased serum testosterone... OMIM:201100
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Nephrotic syndrome, Splenomegaly, Thrombocytopenia, Microcephaly OMIM:615846
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Hepatitis, Splenomegaly, Cirrhosis, ... OMIM:613812
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Hypersplenism, P... OMIM:278000
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Cholangiocarcinoma, Amenorrhea, Hepatocellular car... ORPHA:465508
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Prote... ORPHA:251004
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Nephroblastoma, Hepatocellular carcinoma, Elevated hep... ORPHA:158057
Immunodeficiency 54
Hepatomegaly, Adrenal insufficiency, Lymphadenopathy, Splenomegaly, Reduced natural killer cell c... OMIM:609981
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Macrocephaly/Autism Syndrome
Hepatomegaly, Short nose, Lymphopenia, Splenomegaly OMIM:605309
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney ORPHA:79128
Alg9-Cdg
Hepatomegaly, Hydronephrosis, Hypoplastic nipples, Abnormal renal artery morphology, Hepatic cyst... ORPHA:79328
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heavy proteinuria, Nephrotic syndrome, Leukopenia, Short nose, Bone marrow hypocellularity, Anemi... ORPHA:505248
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly OMIM:618107
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Ascites, Depletion of mitochond... OMIM:251880
Beckwith-Wiedemann Syndrome
Congenital megaureter, Splenomegaly, Nephropathy, Hypercalciuria, Nephroblastoma, Polycythemia, E... ORPHA:116
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Microcephaly OMIM:613489
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... OMIM:617514
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Thrombocytopenia, Hemolytic anemia, Rena... ORPHA:108
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Hydronephrosis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Ane... OMIM:612541
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hemoglobinuria, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithi... OMIM:194380
Leprechaunism
Central hypothyroidism, Hepatomegaly, Long penis, Nephrocalcinosis, Enlarged ovaries, Labial hype... ORPHA:508
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Caroli Disease
Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... ORPHA:53035
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Spontaneous abortion,... ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Meacham Syndrome
Horseshoe kidney, Bicornuate uterus, Accessory spleen, Septate vagina, Blind vagina, Male pseudoh... OMIM:608978
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Priapism, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Incr... OMIM:603903
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Reduced sperm motility OMIM:602271
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly ORPHA:664
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Nephronophthisis 13
Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic kidney disea... OMIM:614377
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... OMIM:601847
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Wolman Disease
Hepatomegaly, Adrenal insufficiency, Ascites, Anemia, Bone-marrow foam cells, Splenomegaly, Adren... ORPHA:75233
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Oligomenorrhea, Portal fibrosis, Hepatic fibrosis, Hep... ORPHA:370
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly ORPHA:37748
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Splenomegaly, ... OMIM:607765
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Nephrotic syndrome, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Hepatitis, Anemia, Acute hepatitis, Splenomegal... ORPHA:905
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Hep... OMIM:308240
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Splenomegaly, Abnormality of the liver, Glo... ORPHA:91138
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure, Intrahepatic cholesta... OMIM:235555
Coach Syndrome 1
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Multiple small medullary renal cysts, Renal cys... OMIM:216360
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Wolfram Syndrome 1
Testicular atrophy, Hydronephrosis, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemi... OMIM:222300
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... OMIM:615122
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Sialidosis Type 2
Hepatomegaly, Ascites, Nephropathy, Splenomegaly ORPHA:87876
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic failure, Chr... OMIM:615630
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Splenomegaly, Hemolytic anemia, Microcephaly, Jaundice OMIM:608885
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... OMIM:618641
Gaucher Disease, Type Iii
Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:231000
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Renal cyst, Intrahepatic biliary dysgenesis, Splenomegaly, Clitoral hypertrophy, He... OMIM:614866
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia, Renal insufficiency ORPHA:79312
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis... ORPHA:131
Oculoskeletodental Syndrome
Hepatomegaly, Mucopolysacchariduria, Renal agenesis, Wide nasal bridge, Splenomegaly, Hypothyroid... OMIM:618440
Mevalonic Aciduria
Microcephaly, Splenomegaly ORPHA:29
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:240500
Transaldolase Deficiency
Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Splenomegaly, Clitoral hypertroph... OMIM:606003
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Immunodeficiency 32B
Splenomegaly OMIM:226990
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Leishmaniasis
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Splenomegaly, A... ORPHA:507
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Congenital Rubella Syndrome
Hepatomegaly, Anemia, Splenomegaly, Type I diabetes mellitus, Thrombocytopenia, Microcephaly, Jau... ORPHA:290
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Oligomenorrhea, Portal fibrosis, Hepatic fibrosis, Ren... ORPHA:264580
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, Ascites, Wide nasal bridge, Thyroid lym... OMIM:235255
Neuraminidase Deficiency
Hepatomegaly, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Urinary excretion of sialy... OMIM:256550
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Pancreatic cysts, Congenital hypothyroidism, Hepatic fibrosi... OMIM:610199
Pseudo-Torch Syndrome 1
Hepatomegaly, Splenomegaly, Decreased liver function, Elevated hepatic transaminase, Thrombocytop... OMIM:251290
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, Ascites, Splenomegaly, Abnormality of t... ORPHA:1655
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... ORPHA:567983
Primary Myelofibrosis
Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Hepatomegaly, Maternal diabetes, Dysmenorrhea, Oligomenorrhea, Insulin-resi... ORPHA:79083
Autoimmune Hepatitis
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Acute hepatitis, Splenomegaly, Diffuse he... ORPHA:2137
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... OMIM:612714
Omenn Syndrome
Leukocytosis, Hepatomegaly, Nephrotic syndrome, Lymphadenopathy, Abnormal lymphocyte morphology, ... ORPHA:39041
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Classic Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Familial Partial Lipodystrophy, Dunnigan Type
Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Splenomegaly,... ORPHA:2348
Hereditary Orotic Aciduria
Abnormality of the ureter, Oroticaciduria, Anemia, Wide nasal bridge, Orotic acid crystalluria, S... ORPHA:30
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Dia... OMIM:137920
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Oligomenorrhea, Hepatic fibrosis, Hepatocellular carci... ORPHA:79240
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Elevated hepatic transaminase, Proximal tubulopathy, Splenomegaly, Cirrhosis, Hyper... OMIM:614576
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Absence of renal cortico... OMIM:259720
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Decreased liver func... ORPHA:158061
Griscelli Syndrome
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... ORPHA:381
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hepatomegaly, Hydronephrosis, Right ventricular hypertrophy, Short nose, Renal cyst,... OMIM:312870
Dominant Beta-Thalassemia
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Diabetes mellitus, Decrea... ORPHA:231226
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Gaucher Disease Type 1
Hepatomegaly, Ascites, Leukopenia, Biliary tract obstruction, Hematuria, Anemia, Splenomegaly, Ci... ORPHA:77259
Prolidase Deficiency
Hepatomegaly, Short nose, Anemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... OMIM:170100
Muckle-Wells Syndrome
Hepatomegaly, Nephrotic syndrome, Anemia, Splenomegaly, Nephropathy, Delayed puberty, Renal amylo... ORPHA:575
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Beta-Thalassemia Major
Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Diab... ORPHA:231214
Primary Lipodystrophy
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia, Pancreatitis, Splenomegaly, Cirr... ORPHA:90970
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Neonatal Lupus Erythematosus
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormality of th... ORPHA:398124
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Splenomegaly, Intermitte... OMIM:150550
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... OMIM:613011
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia ORPHA:85212
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Aredyld Syndrome
Hepatomegaly, Abnormality of the ureter, Type II diabetes mellitus, Splenomegaly, Type I diabetes... ORPHA:1133
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Poikilocytos... ORPHA:288
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Sclerosing cholangitis, Hepatitis, Splenomegaly, Cir... OMIM:308230
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Sialuria
Hepatomegaly, Hypoplastic nipples, Wide nasal bridge, Splenomegaly OMIM:269921
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired ox... OMIM:618935
Free Sialic Acid Storage Disease
Hepatomegaly, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuria ORPHA:834
8P11.2 Deletion Syndrome
Hemolytic anemia, Azoospermia, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pit... ORPHA:251066
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Ani... OMIM:300908
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Niemann-Pick Disease, Type A
Hepatomegaly, Ascites, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Elevated circulatin... OMIM:257200
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Splenomegaly OMIM:614699
Adult-Onset Still Disease
Leukocytosis, Hepatomegaly, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, G... ORPHA:829
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly OMIM:252900
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatomegaly, Macronodular cirrhosis, Lymphadenopathy, Anemia, ... OMIM:619418
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Renal malrotation, Bifid ureter, Multicystic kidney dysplasia, Transient neu... ORPHA:500095
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Abnormality of the hypot... ORPHA:1454
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly OMIM:252920
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopoiesis, Increased mean ... ORPHA:822
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
B4Galt1-Cdg
Hepatomegaly, Wide nasal bridge, Splenomegaly, Hypothyroidism, Elevated hepatic transaminase ORPHA:79332
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... ORPHA:100026
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Hyperphosphaturia, Hepatomegaly, Aminoaciduria, A... OMIM:239200
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... OMIM:616100
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal renal physiology, Anemia, Splenomegaly, Chol... ORPHA:540
Pediatric-Onset Graves Disease
Hepatomegaly, Increased circulating T4 level, Goiter, Neutropenia in presence of anti-neutropil a... ORPHA:525731
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:619183
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Short nose, Wide nas... OMIM:305400
Sézary Syndrome
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Ja... ORPHA:90033
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... OMIM:210250
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Typ... ORPHA:171
Tangier Disease
Left ventricular hypertrophy, Hepatomegaly, Splenomegaly OMIM:205400
Triosephosphate Isomerase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... OMIM:615512
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Ascites, Lymphadenopathy, Hematuria, Splenomegaly, Glomerulopathy, Proteinuria, Ren... ORPHA:36412
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertro... OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertro... OMIM:269700
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Thrombocytopenia, Elevated hepatic... OMIM:300972
Syndromic Diarrhea
Renal hypoplasia, Hepatomegaly, Increased mean platelet volume, Thrombocytosis, Hepatic fibrosis,... ORPHA:84064
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Hydronephrosis, Short nose, Neurogenic bladder, Splenomegaly, Decreased liver funct... OMIM:608779
Hardikar Syndrome
Cholangitis, Decreased serum insulin-like growth factor 1, Intrahepatic bile duct cysts, Splenome... OMIM:301068
Felty Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellu... ORPHA:47612
Majeed Syndrome
Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Splenom... ORPHA:77297
Legionnaires Disease
Lymphadenopathy, Hematuria, Hepatitis, Bone marrow hypocellularity, Pancreatitis, Splenomegaly, L... ORPHA:549
Familial Mediterranean Fever
Leukocytosis, Hepatomegaly, Nephrotic syndrome, Peritonitis, Stage 5 chronic kidney disease, Sple... OMIM:249100
Gaucher Disease, Type I
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia OMIM:230800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi... OMIM:102700
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria OMIM:300322
Scheie Syndrome
Hepatomegaly, Mucopolysacchariduria, Splenomegaly ORPHA:93474
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Opsismodysplasia
Hepatomegaly, Short nose, Splenomegaly ORPHA:2746
Pearson Syndrome
Adrenal insufficiency, Neutropenia, Lacticaciduria, Splenomegaly, Diabetes mellitus, Pancytopenia... ORPHA:699
Familial Tumoral Calcinosis
Hepatomegaly, Splenomegaly, Nephrocalcinosis ORPHA:53715
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Splenomegaly, Hypereosinophilia, Thyroiditis, Autoimmune hemolytic anemia OMIM:617388
Niemann-Pick Disease, Type C1
Fetal ascites, Hepatomegaly, Bone-marrow foam cells, Fatal liver failure in infancy, Splenomegaly... OMIM:257220
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Menorrhagia, Increased mean platelet volume, Stomatocytosis, Splenomegaly, Hemolytic anemia OMIM:153670
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia ORPHA:169090
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:3386
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Pancreatic hypoplasia, Azoospermia, Lymphadenopathy, Retroperitoneal fibrosis, Card... OMIM:602782
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly OMIM:616005
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Wide... OMIM:608233
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Meckel Syndrome, Type 1
Abnormality of the ureter, Malformation of the hepatic ductal plate, Renal agenesis, Asplenia, Bi... OMIM:249000
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly OMIM:252930
Chronic Granulomatous Disease
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Liver abscess ORPHA:379
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Ascites, Short nose, Cardiomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Hepati... OMIM:608013
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cel... ORPHA:3261
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly OMIM:607015
Multiple Sulfatase Deficiency
Hepatomegaly, Mucopolysacchariduria, Microcephaly, Splenomegaly ORPHA:585
Gray Platelet Syndrome
Thrombocytopenia, Menorrhagia, Abnormal number of alpha granules, Splenomegaly OMIM:139090
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Familial Mediterranean Fever
Nephrotic syndrome, Nephrocalcinosis, Lymphadenopathy, Ascites, Peritonitis, Pancreatitis, Spleno... ORPHA:342
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Splenomegaly, H... OMIM:603553
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Hepatomegaly, Chronic lymphatic leukemia, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
Juvenile Idiopathic Arthritis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:92
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Splenomegaly, Absent natural killer cells, Hepatosplenomegaly, Lymphocytosis, Pa... ORPHA:2442
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Neutropenia, Microcephaly, Splenomegaly OMIM:617050
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Lymphopenia, Elevated hepatic transaminase, ... OMIM:617591
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... OMIM:214500
Niemann-Pick Disease, Type C2
Fetal ascites, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Prolonged neonatal jaundice, S... OMIM:607625
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Mixed Connective Tissue Disease
Hepatomegaly, Mediastinal lymphadenopathy, Leukopenia, Lymphadenopathy, Splenomegaly, Nephropathy... ORPHA:809
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinosis, Sideroblastic... OMIM:616084
Zimmermann-Laband Syndrome 1
Hepatomegaly, Long penis, Wide nasal bridge, Nephrolithiasis, Splenomegaly OMIM:135500
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Ly... OMIM:614700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytos... OMIM:267700
Q Fever
Hepatomegaly, Lymphadenopathy, Hematuria, Hepatitis, Anemia, Splenomegaly, Abnormality of the liv... ORPHA:781
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... OMIM:233710
Cystinosis, Nephropathic
Renal Fanconi syndrome, Hepatomegaly, Generalized aminoaciduria, Nephrolithiasis, Glycosuria, Sta... OMIM:219800
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Polycythemia, Micronodular cirrhosis, Splenomegaly, Abnormality of the liver, Eleva... ORPHA:309854
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... OMIM:233690
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukocytosis, Hepatomegaly, Thrombocytosis, Leukopenia, Elevated hepatic transaminase, Lymphadeno... OMIM:615688
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Abnormality of the liver, Autoimmune thrombocytopenia, Lymphopenia... ORPHA:1572
Simpson-Golabi-Behmel Syndrome
Hypospadias, Hepatomegaly, Ureteral duplication, Hydronephrosis, Hydroureter, Short nose, Hepatob... ORPHA:373
Gaucher Disease, Type Iiic
Pancytopenia, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:231005
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypogonadism, Hepatomegaly, Wide nasal bridge, Splenomegaly ORPHA:163746
Hyper-Igd Syndrome
Leukocytosis, Lymphadenopathy, Lymphadenitis, Splenomegaly, Neutrophilia, Hepatosplenomegaly, Ren... OMIM:260920
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horseshoe kidney, Hepatomegaly, Splenomegaly, Vaginal atresia, Hydrometrocolpos OMIM:617088
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Cranioectodermal Dysplasia 2
Cholangitis, Hepatomegaly, Portal fibrosis, Polysplenia, Bile duct proliferation, Renal cyst, Wid... OMIM:613610
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Hypersplenism, Splenomegaly OMIM:616028
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormal T cell s... ORPHA:158048
Hyperlipoproteinemia, Type I
Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly OMIM:238600
Dyskeratosis Congenita
Hepatomegaly, Abnormal morphology of female internal genitalia, Urethral stenosis, Neoplasm of th... ORPHA:1775
Mastocytosis
Hepatomegaly, Acute leukemia, Chronic leukemia, Splenomegaly, Mastocytosis ORPHA:98292
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Tubulointerstitial nephritis, Neutropenia, Nephrotic syndrome, Neutropenia in presence of anti-ne... ORPHA:37042
Brucellosis
Leukocytosis, Hepatomegaly, Thrombocytosis, Thrombocytopenia, Leukopenia, Lymphadenopathy, Epidid... ORPHA:1304
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia/aplasia, Splenomegaly OMIM:612918
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Polycythemia Vera
Hepatomegaly, Portal hypertension, Acute leukemia, Splenomegaly ORPHA:729
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Splenomegaly OMIM:612852
Short-Rib Thoracic Dysplasia 12
Cystic renal dysplasia, Renal hypoplasia, Hepatomegaly, Hypoplastic nipples, Ascites, Splenomegal... OMIM:269860
Reynolds Syndrome
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Biliary cirrhosis, Jaundice OMIM:613471
Gaucher Disease Type 3
Hepatomegaly, Hematuria, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Proteinuria, Delay... ORPHA:77261
Cockayne Syndrome A
Hepatomegaly, Thymic hormone decreased, Splenomegaly, Hypogonadism, Micropenis, Cryptorchidism, I... OMIM:216400
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased serum insulin-like growth factor 1, Cholelithiasis, Neoplasm of the liver... ORPHA:77293
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Hepatomegaly, Increased hepatic echogenicity, Elevated hepatic transaminase... OMIM:619525
Familial Thrombocytosis
Thrombocytosis, Spontaneous abortion, Chronic myelogenous leukemia, Splenomegaly, Acute myeloid l... ORPHA:71493
Multiple Myeloma
Nephrotic syndrome, Lymphadenopathy, Anemia, Splenomegaly, Acute kidney injury, Nephropathy, Abno... ORPHA:29073
Lysinuric Protein Intolerance
Hepatomegaly, Oroticaciduria, Leukopenia, Anemia, Stage 5 chronic kidney disease, Pancreatitis, S... OMIM:222700
Lymphatic Malformation 6
Ascites, Splenomegaly, Intestinal lymphangiectasia, Hypothyroidism, Hydrocele testis OMIM:616843
Hennekam Syndrome
Pulmonary lymphangiectasia, Horseshoe kidney, Ascites, Lymphadenopathy, Lymphangioma, Wide nasal ... ORPHA:2136
Porphyria, Congenital Erythropoietic
Pink urine, Cholelithiasis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:263700
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Ectopic kidney, Cryptorchidism ORPHA:3063
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Vacuolated lymphocytes, Pancreatitis, Splenomegaly, Diabetes mellitus, Renal artery... ORPHA:565612
Crimean-Congo Hemorrhagic Fever
Adrenal insufficiency, Lymphadenopathy, Parotitis, Splenomegaly, Acute pancreatitis, Pancytopenia... ORPHA:99827
Kikuchi-Fujimoto Disease
Hepatomegaly, Neutropenia, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Ab... ORPHA:50918
Aspartylglucosaminuria
Macroorchidism, Hepatomegaly, Aspartylglucosaminuria, Short nose, Wide nasal bridge, Splenomegaly ORPHA:93
Okamoto Syndrome
Hydronephrosis, Bifid uterus, Short nose, Wide nasal bridge, Splenomegaly, Unilateral renal hypop... ORPHA:2729
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Endometrial carcinoma, Secondary hyperparath... ORPHA:273
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Gene... OMIM:181000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Splenomegaly, Anterior pituitary hypoplasia, Medullary nephrocalcinosis, Prolonged neonatal jaund... OMIM:619534
Alström Syndrome
Oligospermia, Hepatitis, Splenomegaly, Elevated circulating thyroid-stimulating hormone concentra... ORPHA:64
Blau Syndrome
Abnormal salivary gland morphology, Lymphadenopathy, Clear cell renal cell carcinoma, Anemia, Sta... ORPHA:90340
Elsahy-Waters Syndrome
Penoscrotal hypospadias, Cryptorchidism, Bifid scrotum, Wide nasal bridge OMIM:211380
Branchioskeletogenital Syndrome
Penoscrotal hypospadias, Absent external genitalia, Micropenis, Ureteral stenosis, Bladder exstro... ORPHA:1299

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 Cdh11

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 Cdh11.

No publications found that use IMPC mice or data for Cdh11.

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MGI Allele Allele Type Produced
Cdh11em1(IMPC)Mbp Exon Deletion Mice, Tissue
Cdh11tm269911(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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