Gene Summary

Name:
cytokine-dependent hematopoietic cell linker
Synonyms:
MIST

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
enlarged heart Clnkem1(IMPC)Ccpcz HOM Early adult 0.00
decreased skeletal muscle mass Clnkem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Clnkem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Clnkem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Clnkem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Clnkem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Clnkem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Clnkem1(IMPC)Ccpcz HOM Early adult 0.00
single kidney Clnkem1(IMPC)Ccpcz HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

28 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Hind Leg and Hip

28 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Human diseases caused by Clnk mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast cell morphology, Splenomegaly ORPHA:98848
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Ethanolaminosis
Cardiomegaly OMIM:227150
Mastocytosis, Cutaneous
Cutaneous mastocytosis OMIM:154800
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Decreased circula... OMIM:300400
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Double outlet right ventricle, Bilateral renal agenesis, Hypoplastic left ... OMIM:618845
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Decreased circulating antibody level, Anemia, Abnormal natural killer cell physiology, Splenomega... OMIM:613101
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism, Renal agenesis OMIM:219050
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease... OMIM:308240
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... OMIM:267500
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis OMIM:601355
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Mitral valve prolapse, Quadricuspid aortic valve, Unilateral renal agenesis,... OMIM:606408
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Coach Syndrome 1
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Multiple small medullary renal cysts, Renal cys... OMIM:216360
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Ventricular septal defect, Proximal tubulopathy, Splenomegaly, Cirrhosis, Atrial se... OMIM:614576
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Weakness of facial musculature, Internally nucleated skeletal muscle fibers, Abnormal Z disc morp... OMIM:618654
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent urinary tract infections, Autoimmune hemol... OMIM:618495
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Abnormality of me... ORPHA:2260
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Acute leukemia, Unilateral renal agenesis, Cryptorchidism, Renal insufficiency ORPHA:281090
Neurofaciodigitorenal Syndrome
Unilateral renal agenesis OMIM:256690
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Trimethylaminuria
Anemia, Trimethylaminuria, Neutropenia, Splenomegaly OMIM:602079
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Horseshoe kidney, Abnormal heart morphology, Perimembranous ventricular septal defec... ORPHA:363444
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Amyloidosis, Familial Visceral
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria OMIM:105200
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Decreased proportion of class-switched memory B cells, Reduced natural ki... OMIM:615559
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... OMIM:613673
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Abnormal heart morphology, Congenital diaphra... OMIM:617641
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Microgastria-Limb Reduction Defects Association
Cystic renal dysplasia, Horseshoe kidney, Asplenia, Pelvic kidney, Splenogonadal fusion, Absent g... OMIM:156810
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Micropenis, Ventricular septal defect, Atrial septal defect, Unilateral renal agenesis OMIM:618142
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Galactosemia Iii
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, C... OMIM:256550
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis OMIM:248910
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Cryptorchidism, Tetralogy of Fallot, Unilateral renal agenesis ORPHA:3306
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... ORPHA:100024
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:614480
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Ventricular septal defect, Atrial septal defect, Unilateral renal agenesis OMIM:608406
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... OMIM:616217
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Cryptorchidism, Micropenis, Unilateral renal agenesis OMIM:244200
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
X-Linked Lymphoproliferative Disease
Decreased circulating antibody level, Splenomegaly, Absent natural killer cells, Dysgammaglobulin... ORPHA:2442
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Holzgreve Syndrome
Renal hypoplasia, Hypoplastic left heart, Renal agenesis OMIM:236110
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Nephrotic syndrome, Cardiomegaly, Cardiomyopathy, Left ventricular hypert... OMIM:617713
Emanuel Syndrome
Renal hypoplasia, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia,... ORPHA:96170
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Renal agenesis, Unilateral renal agenesis OMIM:601076
Renal Agenesis
Ventricular septal defect, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... ORPHA:411709
Infantile Sialic Acid Storage Disease
Hepatomegaly, Ascites, Nephrotic syndrome, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Methylmalonic Acidemia With Homocystinuria Type Cblf
Neutropenia, Methylmalonic aciduria, Abnormal heart morphology, Megaloblastic anemia, Unilateral ... ORPHA:79284
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural killer cell count, Pa... OMIM:616050
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis OMIM:179280
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Flexion contracture, Splenomegaly OMIM:608540
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Lymphadenopathy, Cardiomegaly, Anemia, Thrombocytopenia, Jaundice ORPHA:858
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Renal hypoplasia/aplasia, ... ORPHA:1046
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Decreased response to growth hormone stimulation test, Cryptorchidism, Unilateral... OMIM:609757
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Hydronephrosis, Abnormal heart morphology, Renal dysplasia, Parathyroid hypop... ORPHA:2237
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Cirrhosis OMIM:613313
Braddock Syndrome
Congenital muscular torticollis, Unilateral renal agenesis ORPHA:52047
Renal Cysts And Diabetes Syndrome
Hypospadias, Renal hypoplasia, Pancreatic hypoplasia, Multiple glomerular cysts, Renal cyst, Neph... OMIM:137920
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy, Renal hypoplasia, Anemia, Micropenis, Lymphopenia, Unilateral renal agene... OMIM:616541
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Increased mean platelet volume, Pulmonic stenosis, Unilateral renal ... OMIM:616737
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Isolated Anencephaly
Congenital diaphragmatic hernia, Thymus hyperplasia ORPHA:563609
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red ... OMIM:603903
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Cirrhosis, Cholestatic liver disease, Hepato... OMIM:616828
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Reduced natural killer ... ORPHA:540
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Abdominal situs inversus, Renal agenes... OMIM:306955
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Cardiomyopathy, Splenomegaly, Abnormal heart valve morp... ORPHA:93476
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Attrv30M Amyloidosis
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Nephropathy ORPHA:85447
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... OMIM:617514
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Abnormality of the kidney, Unilateral renal agenesis OMIM:118100
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Diastasis recti, Elevated circulating luteinizing hormone level, Elevated circulating follicle st... OMIM:618419
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Carnitine Deficiency, Systemic Primary
Decreased carnitine level in liver, Hepatomegaly, Myopathy, Hypertrophic cardiomyopathy, Endocard... OMIM:212140
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Unilateral renal agenesis, Bladder exstrophy, Hydroureter, Epispadias OMIM:600057
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Hepatomegaly, Splenomegaly ORPHA:2204
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal h... OMIM:252920
Gaucher Disease Type 2
Hepatomegaly, Flexion contracture, Splenomegaly ORPHA:77260
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Sialidosis Type 2
Hepatomegaly, Skeletal muscle atrophy, Ascites, Splenomegaly, Flexion contracture, Nephropathy ORPHA:87876
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormal... ORPHA:79301
Harderoporphyria
Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Increased urinary porphobilin... OMIM:618892
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Mastocytosis
Chronic leukemia, Mastocytosis, Acute leukemia, Splenomegaly ORPHA:98292
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Cutis Laxa, Autosomal Dominant 3
Unilateral renal agenesis OMIM:616603
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Cardiomyopathy, Splenomegaly, Cirrhosis OMIM:602390
Cockayne Syndrome Type 3
Hepatomegaly, Renal hypoplasia, Hydronephrosis, Skeletal muscle atrophy, Urinary retention, Cardi... ORPHA:90324
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Generalized amyotrophy, Cardiomegaly, EMG: m... OMIM:300257
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly ORPHA:172
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Splenomegaly OMIM:616719
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Ascites, Cardiomegaly, Cholestasis, Pulmonic valve myxoma... ORPHA:615
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Cardiomegaly, Anemia, Acute kidney injury, Congenital thrombocytopen... OMIM:618886
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Ascites, Hepatocellular carcinoma, Cardiomegaly, Cardiomyopathy... OMIM:235200
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgE level, Increased circula... OMIM:617241
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Cryptorchidism, Micropenis, Unilateral renal agenesis OMIM:308750
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of specific ant... OMIM:240500
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic bridging fibrosis, Jaundice OMIM:619658
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607594
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Abnormal platelet function, Thrombocytopeni... ORPHA:167
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Hepatomegaly, Myopathy, Pericardial effusion, Ascites, Ventricular h... OMIM:115197
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Skeletal muscle atrophy, Myositis, Lymphadenopathy, Splenomegaly, Flexion contractu... OMIM:619183
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Ankle flexion contracture, Ventricular septal defect, Hydronephrosis, Posterior pitu... ORPHA:464311
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Unilateral renal agenesis, Renal agenesis, Muscular ventricular septal defect OMIM:619227
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... OMIM:263200
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Micropenis, Unilateral renal agenesis, Cryptorchidism, Decreased testicular size OMIM:308700
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Cryptorchidism, Multicystic kidney dysplasia, Unilateral renal agenesis OMIM:308205
Immunodeficiency 32B
Splenomegaly OMIM:226990
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Facial palsy, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocyt... OMIM:611490
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Jaundice OMIM:214900
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Abnorm... ORPHA:1414
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Cardiomyopathy, Splenomegaly, Thrombocytopenia, ... ORPHA:79312
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Ventricular septal defect, Hydronephrosis, Pelvic kidney, Renal cyst, Anterior pitui... ORPHA:464306
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Skeletal muscle atrophy, Hepatic fibrosis, Portal fibrosis, Hepatoce... ORPHA:370
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Increased mean platelet volume, Total anomalous pulmonary venous ret... ORPHA:487796
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatitis, Abnormal hemoglobin, Anemia, Cholelithiasis... ORPHA:848
Mayer-Rokitansky-Küster-Hauser Syndrome
Horseshoe kidney, Ectopic kidney, Abnormality of the kidney, Unilateral renal agenesis ORPHA:3109
7Q11.23 Microduplication Syndrome
Hypospadias, Ventricular septal defect, Hydronephrosis, Congenital diaphragmatic hernia, Atrial s... ORPHA:96121
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Thrombocytopenia, Nephrotic syndrome, Splenomegaly OMIM:615846
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Thymic Aplasia With Fetal Death
Ureteral agenesis, Renal agenesis, Truncus arteriosus OMIM:274210
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... OMIM:616278
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Myopathy, Distal arthrogryposis, Skeletal muscle atrophy, Cardiomegaly, Dicarboxyli... ORPHA:42
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Restrictive cardiomyopathy, Car... ORPHA:85451
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Bifid Nose With Or Without Anorectal And Renal Anomalies
Ebstein anomaly of the tricuspid valve, Renal agenesis, Unilateral renal agenesis OMIM:608980
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Leopard Syndrome 1
Hypertrophic cardiomyopathy, Hypospadias, Hypoplasia of the ovary, Subvalvular aortic stenosis, P... OMIM:151100
Tangier Disease
Hepatomegaly, Facial diplegia, Splenomegaly, Left ventricular hypertrophy, Distal amyotrophy OMIM:205400
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Hyperparathyroidism, Splenomegaly OMIM:618107
Chromosome 17Q12 Deletion Syndrome
Renal hypoplasia, Hydronephrosis, Urethral stenosis, Renal cyst, Stage 5 chronic kidney disease, ... OMIM:614527
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Renal insufficiency, ... ORPHA:108
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Glycogen Storage Disease Xii
Myopathy, Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic he... OMIM:611881
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Glycogen Storage Disease Ii
Firm muscles, Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly OMIM:232300
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Hydronephrosis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Ane... OMIM:612541
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly ORPHA:37748
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly ORPHA:75234
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Recurrent urinary tract infections, Reduced natural killer cell count, Decreas... ORPHA:221139
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Micropenis, Camptodacty... OMIM:602782
Congenitally Uncorrected Transposition Of The Great Arteries
Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Abnormal mitral valve morphol... ORPHA:860
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Ascites, Cardiomegaly, Myocardial fibrosis, Nephroblastoma OMIM:253250
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function ORPHA:277
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Hermansky-Pudlak Syndrome 2
Neutropenia, Reduced natural killer cell activity, Enlarged platelet dense granules, Absent plate... OMIM:608233
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly, Limb hypertonia OMIM:619170
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler... OMIM:617394
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Nonspherocytic hemolytic... OMIM:613470
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Dicarboxylic ac... OMIM:201475
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of skeletal muscle fiber size, Myopathy, S... ORPHA:2348
Pentalogy Of Cantrell
Hypospadias, Ventricular septal defect, Renal agenesis, Congenital diaphragmatic hernia, Renal dy... ORPHA:1335
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... OMIM:615122
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Glomerulonephritis ORPHA:99931
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Cockayne Syndrome
Hepatomegaly, Renal hypoplasia, Limb hypertonia, Skeletal muscle atrophy, Nephrotic syndrome, Abn... ORPHA:191
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Torticollis, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta OMIM:617022
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Intrahepatic cho... OMIM:602347
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Ankle flexion contracture, Pelvic kidney, Knee flexion contracture, Abnormal renal c... ORPHA:468631
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Nephroblastoma, Hepatocellular carcinoma, Abnormal ren... ORPHA:158057
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Smith-Lemli-Opitz Syndrome
Hypospadias, Renal hypoplasia, Ventricular septal defect, Hydronephrosis, Renal agenesis, Renal c... OMIM:270400
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Digeorge Syndrome
Ventricular septal defect, Hydronephrosis, Truncus arteriosus, Renal dysplasia, Parathyroid agene... OMIM:188400
Refsum Disease, Classic
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Limb muscle weakness OMIM:266500
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Renal artery atherosclerosis, Increased muscle lipid content, Skeletal myopathy, Co... ORPHA:565612
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... OMIM:618652
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Hypersplenism, Right atrial enlar... OMIM:616028
Acrodysostosis 1 With Or Without Hormone Resistance
Elevated circulating thyroid-stimulating hormone concentration, Cryptorchidism, Decreased growth ... OMIM:101800
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Macroglossia, Knee flexion contracture, Bilateral renal agenesis, Unilateral ren... OMIM:619194
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Macrovesicular hepatic steatosis, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy OMIM:600649
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Reduced natural killer cell activity, Anemia, Splenomegaly, Hepatosplenomegaly, Pancy... OMIM:603553
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Arthrogryposis multiplex congenita, Splenomegaly, Flexio... ORPHA:85212
Sandhoff Disease
Hepatomegaly, Skeletal muscle atrophy, Macroglossia, Cardiomegaly, Hepatosplenomegaly, Urinary in... OMIM:268800
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Splenomegaly OMIM:614699
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Adrenal hyperplasia, Hypospadias, Elevated circulating follicle stimulating hormone level, Elbow ... ORPHA:95699
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Gaucher Disease, Type Iii
Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:231000
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Choles... OMIM:615630
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Hepatocellular carci... ORPHA:465508
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hemoglobinuria, Hepatitis, Cholelithi... OMIM:194380
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune... OMIM:613011
Diamond-Blackfan Anemia 11
Bicuspid aortic valve, Renal agenesis, Neutropenia, Anemia, Bone marrow hypocellularity, Anemia o... OMIM:614900
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Ventricular septal defect, Abnormal pulmonary valve morphology, Chordee, Posterior p... ORPHA:268261
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Hepatic calcification, Increased muscle lipid content, Uret... OMIM:608836
Nager Syndrome
Unilateral renal agenesis ORPHA:245
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Pericarditis, Splenomegaly ORPHA:85414
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Splenomegaly, Intermitte... OMIM:150550
Microphthalmia, Syndromic 9
Horseshoe kidney, Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Renal m... OMIM:601186
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Fucosidosis
Hepatomegaly, Macroglossia, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Oligosacchariduri... OMIM:230000
Roifman Syndrome
Hepatomegaly, Ventricular septal defect, Hip contracture, Noncompaction cardiomyopathy, Lymphaden... OMIM:616651
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Cardiomegaly, Hepatic steatosis OMIM:255120
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Anemia, Splenomegaly, Atrial septal defect, Thrombocytop... ORPHA:290
Mevalonic Aciduria
Splenomegaly ORPHA:29
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of skeletal muscle fiber size, Myopathy, S... ORPHA:79083
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Splenomegaly, Reduced natural killer cell count, Adrenocorticotrop... OMIM:609981
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Splenomegaly, Abnormality of the liver, Glo... ORPHA:91138
Sézary Syndrome
Hepatomegaly, Skeletal muscle atrophy, Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly ORPHA:3162
Serkal Syndrome
Hypospadias, Ventricular septal defect, Abnormal penis morphology, Renal agenesis, Congenital dia... ORPHA:139466
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber atrophy, Thymus hyperplasia, Type 2 muscle fiber predominance, Type 1 muscle ... OMIM:619036
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Ascites, Leukopenia, Biliary tract obstruction, Hematuria, An... ORPHA:77259
Free Sialic Acid Storage Disease
Hepatomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Nephrotic syndrome, Ascites, ... ORPHA:834
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Distal 22Q11.2 Microduplication Syndrome
Ventricular septal defect, Macroglossia, Tricuspid valve prolapse, Camptodactyly of finger, Unila... ORPHA:261337
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Splenomegaly OMIM:252900
Matthew-Wood Syndrome
Horseshoe kidney, Renal hypoplasia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Congeni... ORPHA:2470
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Primary Myelofibrosis
Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Spleno... OMIM:606003
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Renal cyst, Splenomegal... OMIM:614866
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Primary Lipodystrophy
Myopathy, Skeletal muscle hypertrophy, Polycystic ovaries, Pancreatitis, Cardiomyopathy, Splenome... ORPHA:90970
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:308230
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatosplenomegaly, Reduced renal corticomedullary d... ORPHA:84081
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Zttk Syndrome
Horseshoe kidney, Ventricular septal defect, Absent gallbladder, Atrial septal defect, Flexion co... OMIM:617140
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Right ventricular hypertrophy, Pollakisuria, Cardiomegal... ORPHA:268
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Timothy Syndrome
Ventricular septal defect, Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot OMIM:601005
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Ani... OMIM:300908
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Hepatomegaly, Focal segmental glomerulosclerosis, Renal tubular atro... OMIM:617303
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Sp... ORPHA:829
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Abnormal heart morphology, Anemia, Splenomegal... ORPHA:398124
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Thyroid hypoplasia, Mitral atresia, Subvalvular aortic stenosis, Hepatosplenomeg... OMIM:619503
Legionnaires Disease
Myocarditis, Pericarditis, Endocarditis, Lymphadenopathy, Hematuria, Hepatitis, Bone marrow hypoc... ORPHA:549
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Atrioventricular canal ... ORPHA:3092
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired ox... OMIM:618935
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morphology, ... ORPHA:324410
Nephronophthisis 13
Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic kidney disea... OMIM:614377
Classic Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Pericardial effusion, Ascites, Lymphadenopathy, Hematuria, Splenomegaly, Abnormal h... ORPHA:36412
Triosephosphate Isomerase Deficiency
Myopathy, Normocytic anemia, Skeletal muscle atrophy, Normochromic anemia, Cholelithiasis, Spleno... OMIM:615512
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Hypoparathyroidism, Elevated hepatic iron concentration, Hepatocellul... ORPHA:231222
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Tetralogy of Fallot, Unilateral renal agenesis OMIM:154400
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Leigh Syndrome With Nephrotic Syndrome
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Card... ORPHA:255249
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Jaundice OMIM:613812
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... OMIM:601847
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Hepatomegaly, Nephrocalcinosis, Macroglossia, Cardiomegaly, Hepatoblastoma,... OMIM:130650
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... OMIM:612714
Meacham Syndrome
Abnormality of the spleen, Ventricular septal defect, Conotruncal defect, Horseshoe kidney, Hypop... ORPHA:3097
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Hypospadias, Ventricular septal defect, Hydronephrosis, Ascites, Car... OMIM:616897
Wolman Disease
Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly ORPHA:75233
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Biventricular hypertrophy, Ascites, Macroglossia, Cardiomegaly, Cardiomyopathy OMIM:261740
Niemann-Pick Disease, Type A
Hepatomegaly, Skeletal muscle atrophy, Ascites, Lymphadenopathy, Bone-marrow foam cells, Splenome... OMIM:257200
Muckle-Wells Syndrome
Hepatomegaly, Nephrotic syndrome, Anemia, Splenomegaly, Nephropathy, Camptodactyly of finger, Ren... ORPHA:575
Griscelli Syndrome
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... ORPHA:381
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, Hepatic calcification, Myoglobinuria, Tubulointerstitial ne... ORPHA:228308
Oculoskeletodental Syndrome
Hepatomegaly, Mucopolysacchariduria, Renal agenesis, Macroglossia, Splenomegaly, Cryptorchidism, ... OMIM:618440
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Skeletal muscle atrophy, Hepatic fibrosis, Portal fibrosis, Renal tu... ORPHA:264580
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... OMIM:278000
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal lymphatic vessel morphology, Pericardial effusion, Lymphangioma, Abnor... ORPHA:464329
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hypoparathyroidism, Hepatic fibrosis, Hypochromic microcytic anemia, Hepa... ORPHA:231226
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Wilson Disease
Hepatomegaly, Proximal muscle weakness in lower limbs, Hepatitis, Anemia, Acute hepatitis, Spleno... ORPHA:905
Felty Syndrome
Hepatomegaly, Neutropenia, Pericarditis, Lymphadenopathy, Abnormal lymphocyte morphology, Bone ma... ORPHA:47612
Omenn Syndrome
Leukocytosis, Hepatomegaly, Nephrotic syndrome, Lymphadenopathy, Abnormal lymphocyte morphology, ... ORPHA:39041
Refsum Disease
Renal insufficiency, Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly ORPHA:773
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Cardiomyopathy, Splenomegaly OMIM:619046
Pallister-Hall Syndrome
Abnormal prolactin level, Distal arthrogryposis, Ventricular septal defect, Adrenocorticotropic h... ORPHA:672
Cantu Syndrome
Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly, Pericardial effusion OMIM:239850
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Ascites, Depletion of mitochond... OMIM:251880
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Pelvic girdle muscle weakness, Myoglobinuria, Skeletal muscle atrophy, Hepatic fibr... ORPHA:79240
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Hemolytic anemia, Splenomegaly OMIM:608885
Scrub Typhus
Lymphadenopathy, Renal insufficiency, Myocarditis, Splenomegaly ORPHA:83317
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosis OMIM:613027
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Mucopolysaccharidosis Type 6
Macroglossia, Mucopolysacchariduria, Abnormal heart valve morphology, Splenomegaly ORPHA:583
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Decreased muscle mass, Abnormality of the gallbladder, Cardi... ORPHA:349
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Decreased testicular size, Splenomegaly OMIM:201100
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatomegaly, Hypoparathyroidism, Anisopoikilocytosis, Hepatic fibrosis, ... ORPHA:231214
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Ja... ORPHA:90033
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Tyrosinemia, Type I
Hypertrophic cardiomyopathy, Hepatomegaly, Renal Fanconi syndrome, Hepatocellular carcinoma, Asci... OMIM:276700
Hereditary Orotic Aciduria
Abnormality of the ureter, Oroticaciduria, Anemia, Orotic acid crystalluria, Splenomegaly, Aminoa... ORPHA:30
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Gaucher Disease, Type I
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia, Aortic valve s... OMIM:230800
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Hyperphosphaturia, Calcinosis, Aminoaciduria, Anemia, Splenomegaly, Primary hyperpa... OMIM:239200
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Hydronephrosis, Increased hepati... OMIM:614921
Majeed Syndrome
Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Splenom... ORPHA:77297
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Ascites, Cardiomegaly, Anemia, Arthrogryposis multiplex congenita, Splenomegaly, He... OMIM:608013
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly OMIM:235555
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Splenomegaly, Flexion contracture, Heparan sulfate excretion in urine, Asymmetric s... OMIM:252940
Neurofaciodigitorenal Syndrome
Cryptorchidism, Unilateral renal agenesis ORPHA:2673
Familial Tumoral Calcinosis
Hepatomegaly, Nephrocalcinosis, Calcification of muscles, Splenomegaly ORPHA:53715
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Anemia, Cholelithiasis, Splenomegaly, Extramedullary he... ORPHA:822
Caroli Disease
Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... ORPHA:53035
Fanconi Anemia, Complementation Group E
Horseshoe kidney, Renal agenesis, Neutropenia, Leukemia, Abnormal heart morphology, Ectopic kidne... OMIM:600901
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy, Abnormality of the urinary sys... OMIM:230500
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... ORPHA:100026
Immunodeficiency 36
Chronic lymphatic leukemia, Lymphopenia, Splenomegaly OMIM:616005
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... OMIM:174000
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Nephrocalcinosis, Cardiomyopath... OMIM:616084
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Anisocytosis, Chronic hemolytic anemia, Poik... OMIM:618278
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Myopathy, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia ORPHA:169090
Coronary Arterial Fistula
Bicuspid aortic valve, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph... ORPHA:2041
Syndromic Diarrhea
Hepatomegaly, Thrombocytosis, Increased mean platelet volume, Bicuspid aortic valve, Hepatic fibr... ORPHA:84064
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... OMIM:616100
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb muscle weakness, Increased hepatic glycogen content, Cardiomegaly, Cardiomyopathy, 3-Methylg... OMIM:619259
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Cholecystitis, Portal hypertension, ... ORPHA:131
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Absence of renal cortico... OMIM:259720
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Fanconi Anemia, Complementation Group A
Horseshoe kidney, Renal agenesis, Neutropenia, Leukemia, Abnormal heart morphology, Ectopic kidne... OMIM:227650
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Pericarditis, Leukopenia, Myositis, Lymph... ORPHA:809
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Cardiomyopathy OMIM:105210
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Intrahepatic cholest... OMIM:607765
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormality of the lower urinary tract, Abnormal conce... ORPHA:391428
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Poikilocytos... ORPHA:288
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Splenomegaly OMIM:252930
Chediak-Higashi Syndrome
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... OMIM:214500
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Renal hypoplasia/aplasia, Splenomegaly OMIM:612918
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Ventricular septal defect, Hydronephrosis, Ascites, Thy... OMIM:235255
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Abnormality of B cell physiology, Cutaneous anergy, Panhypogammaglobulinemia, Decreased lymphocyt... OMIM:600802
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Thrombocytopenia, He... ORPHA:158061
Sarcoidosis, Susceptibility To, 2
Facial palsy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Pseudo-Torch Syndrome 1
Hepatomegaly, Splenomegaly, Thrombocytopenia, Renal insufficiency, Jaundice OMIM:251290
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Facial hypotonia, Unilateral renal agenesis ORPHA:457284
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pulmonic stenosis, Diastasis recti, Atrial... OMIM:608149
Beckwith-Wiedemann Syndrome
Congenital megaureter, Splenomegaly, Diastasis recti, Nephropathy, Hypercalciuria, Nephroblastoma... ORPHA:116
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Atrial septal defec... ORPHA:79330
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Hepatitis,... OMIM:610199
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Jaundice OMIM:618641
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, Ventricular septal defect, Hydronephrosis, Ascites, Spl... ORPHA:1655
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
Q Fever
Myocarditis, Hepatomegaly, Pericarditis, Pericardial effusion, Endocarditis, Lymphadenopathy, Hem... ORPHA:781
Gaucher Disease Type 3
Hepatomegaly, Pericardial effusion, Mitral valve calcification, Hematuria, Anemia, Splenomegaly, ... ORPHA:77261
Aredyld Syndrome
Hepatomegaly, Abnormality of the ureter, Splenomegaly ORPHA:1133
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Macroglossia, Splenomegaly, Abnormal heart valve morphology, Urinary glycosaminogly... OMIM:309900
Juvenile Idiopathic Arthritis
Hepatomegaly, Mediastinal lymphadenopathy, Pericardial effusion, Splenomegaly ORPHA:92
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset