Gene Summary

Name:
dihydrofolate reductase
Synonyms:
8430436I03Rik

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
decreased mean corpuscular hemoglobin Dhfrtm1b(EUCOMM)Wtsi HET Early adult 7.84×10-05
embryonic lethality prior to tooth bud stage Dhfrtm1b(EUCOMM)Wtsi HOM   E12.5 0.00
embryonic lethality prior to organogenesis Dhfrtm1b(EUCOMM)Wtsi HOM   E9.5 0.00
decreased prepulse inhibition Dhfrtm1b(EUCOMM)Wtsi HET Early adult 2.43×10-07
preweaning lethality, complete penetrance Dhfrtm1b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased circulating creatinine level Dhfrtm1b(EUCOMM)Wtsi HET Early adult 2.05×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 28.57% (2 of 7)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 28.57% (2 of 7)
Embryo N/A heterozygote 28.57% (2 of 7)
Eye N/A heterozygote 28.57% (2 of 7)
Footplate N/A heterozygote 0.0% (0 of 7)
Forebrain N/A heterozygote 28.57% (2 of 7)
Forelimb N/A heterozygote 0.0% (0 of 7)
Gut N/A heterozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 7)
Head N/A heterozygote 0.0% (0 of 7)
Heart N/A heterozygote 28.57% (2 of 7)
Hindbrain N/A heterozygote 28.57% (2 of 7)
Hindlimb N/A heterozygote 0.0% (0 of 7)
Liver N/A heterozygote 0.0% (0 of 7)
Lung N/A heterozygote 0.0% (0 of 7)
Mandibular process N/A heterozygote 0.0% (0 of 7)
Maxillary process N/A heterozygote 0.0% (0 of 7)
Midbrain N/A heterozygote 28.57% (2 of 7)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 7)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 7)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 0.0% (0 of 7)
Tail N/A heterozygote 0.0% (0 of 7)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton 1.56% (1 of 64)
brain 1.18% (6 of 508)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 503)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

Associated Images

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

Embryo LacZ

LacZ images wholemount

28 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Hepatomegaly, Jaundice, Pallor, Thrombocytopenia OMIM:613839

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Splenomegaly, Hepatomegaly, Anemia, Persistence of hemoglobin F ORPHA:46532
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor, Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hy... OMIM:615234
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor, Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticu... OMIM:615631
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Pallor, Splenomegaly, Hemolytic anemia ORPHA:228312
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Pallor, Thro... ORPHA:75564
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia OMIM:602079
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Pallor, Splenomegaly, Hepatomegaly, Anemia, Hepatitis, Abnorma... ORPHA:848
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Splenomegaly... ORPHA:824
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly, Elevated hepatic transaminase ORPHA:75563
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Hepatomegaly, Jaundice, Pallor, Thrombocytopenia OMIM:613839
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... ORPHA:822
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, High-output congestiv... ORPHA:231222
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Ele... ORPHA:507
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease OMIM:268040
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Pallor, Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concent... OMIM:194380
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy OMIM:607685
Hb Bart'S Hydrops Fetalis
Pallor, Splenomegaly, Hepatomegaly, Anemia, Abnormal hemoglobin ORPHA:163596
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis, Pallor OMIM:611804
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Microcytic anemia, Hypochromic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... OMIM:600462
Acute Peripheral Arterial Occlusion
Pallor, Leukocytosis ORPHA:90064
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:259710
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Pallor, Anisocytosis, Splenomegaly, Heinz bodie... OMIM:300908
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin conc... ORPHA:231226
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Evans Syndrome
Petechiae, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Jaundice, Neutropenia in pre... ORPHA:1959
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Retinitis Pigmentosa 42
Pallor OMIM:612943
Alpha-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Beta-Thalassemia Major
Dilated cardiomyopathy, Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin conc... ORPHA:231214
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Cold Agglutinin Disease
Pallor, Splenomegaly, Hepatomegaly, Hemolytic anemia ORPHA:56425
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Elevated hepatic transaminase, Abnormal ... ORPHA:98870
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular volume OMIM:611590
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hepatosplenomegaly, Pallor, Anemia, Elevated hepatic iron concentration, Elevated hepatic transam... ORPHA:300298
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Gastrointestinal hemorrhage, Increased hematocrit, Thrombocyt... OMIM:263300
Retinitis Pigmentosa 60
Pallor OMIM:613983
Retinitis Pigmentosa 81
Pallor OMIM:617871
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Hemochromatosis, Type 2B
Congestive heart failure, Splenomegaly, Hepatomegaly, Anemia, Cardiomyopathy, Cirrhosis, Hepatic ... OMIM:613313
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Epistaxis ORPHA:721
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia, Microangiop... OMIM:612926
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Optic Atrophy 9
Pallor OMIM:616289
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Neutropenia, Anemia, Pallor, Thrombocytopenia OMIM:246400
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Imerslund-Gräsbeck Syndrome
Pancytopenia, Hypersegmentation of neutrophil nuclei, Pallor, Megaloblastic anemia, Abnormal hemo... ORPHA:35858
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Abnormal neutrophil count, Myeloproliferative disorder, Splenomegaly, Hepatomegaly,... ORPHA:3226
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Pallor, Splenomegaly, Hemolytic anemia ORPHA:98375
Peripheral Cone Dystrophy
Pallor OMIM:609021
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Cirrhosis, Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Elevat... OMIM:616860
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Erythrocytosis, Familial, 1
Increased hemoglobin, Increased hematocrit, Splenomegaly, Myocardial infarction, Hypertension, Ce... OMIM:133100
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:259730
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Pallor, Autoimmun... ORPHA:331206
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Prolonged neonatal ... ORPHA:79303
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Adenosine deaminase, elevated, hemolytic anemia due to
Elevated red cell adenosine deaminase level, Hyperuricemia, Hemolytic anemia, Anisopoikilocytosis... OMIM:102730
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine OMIM:300539
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Hypochromic microcytic anemia, As... OMIM:259720
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Lymphopenia OMIM:619164
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis OMIM:314050
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Sandhoff Disease
Splenomegaly, Hepatomegaly, Congestive heart failure ORPHA:796
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Extramedullary hematopoiesis ORPHA:313855
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor, Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Poikilocytosis OMIM:616959
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Optic Atrophy 1
Pallor OMIM:165500
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Vasculitis, Lymphadenopathy ORPHA:37748
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Pallor, Chronic lymphatic leukemia ORPHA:90033
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Aregenerative Anemia
Pancytopenia, Pallor, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of... ORPHA:101096
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia, Hepatomegaly OMIM:246450
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Refractory sideroblastic anemia, Sideroblastic a... OMIM:557000
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:610293
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Retinitis Pigmentosa 70
Pallor OMIM:615922
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Splenomegaly, Hepatomegaly, Cardiom... OMIM:602390
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Tubulointerstitial Nephritis With Uveitis
Non-caseating epithelioid cell granulomatosis, Elevated circulating creatinine concentration OMIM:607665
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Idiopathic Pulmonary Hemosiderosis
Pallor, Iron deficiency anemia, Hepatosplenomegaly, Hepatomegaly ORPHA:99931
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Myelofibrosis
Pallor, Myeloproliferative disorder, Splenomegaly, Purpura OMIM:254450
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cir... ORPHA:79301
Retinitis Pigmentosa 27
Pallor OMIM:613750
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Pallor, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia ORPHA:276575
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia ORPHA:90045
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice, Hypertension, Tachycardia OMIM:121300
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis OMIM:271500
Hyperinsulinism Due To Ucp2 Deficiency
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276556
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia ORPHA:276608
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... OMIM:109270
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Fumarase Deficiency
Pallor, Hepatic failure, Cholestasis, Polycythemia OMIM:606812
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration ORPHA:275555
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Hypertension, Cholestasis OMIM:105200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia ORPHA:276580
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Vasculitis, Lymphadenopa... OMIM:308240
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Aicardi-Goutieres Syndrome 7
Vasculitis, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood ur... OMIM:235400
Sepsis In Premature Infants
Petechiae, Leukocytosis, Purpura, Splenomegaly, Decreased liver function, Jaundice, Hepatomegaly,... ORPHA:90051
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu... OMIM:615559
Babesiosis
Leukopenia, Congestive heart failure, Splenomegaly, Myocardial infarction, Jaundice, Hepatomegaly... ORPHA:108
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Splenomegaly, Hepatomegaly OMIM:608540
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Retinitis Pigmentosa 73
Pallor OMIM:616544
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Ret... OMIM:274150
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Gastrointestinal hemorrhage, Coombs-positive hemolytic anemia, Autoimmune hemolytic... OMIM:603909
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Ly... OMIM:603554
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia ORPHA:90036
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly, Cardiac arrest ORPHA:77260
Neonatal Lupus Erythematosus
Pancytopenia, Dilated cardiomyopathy, Abnormality of the liver, Arrhythmia, Splenomegaly, Hepatom... ORPHA:398124
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Ascit... OMIM:619463
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Refractory Anemia With Excess Blasts
Anemic pallor, Leukocytosis, Acute myeloid leukemia, Abnormal mean corpuscular volume, Anemia of ... ORPHA:86839
Hyperinsulinism Due To Hnf1A Deficiency
Pallor, Hepatomegaly ORPHA:324575
Plummer-Vinson Syndrome
Pallor, Iron deficiency anemia, Hypochromic microcytic anemia ORPHA:54028
Fish-Eye Disease
Angina pectoris, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Relapsing Fever
Leukopenia, Elevated circulating creatinine concentration, Leukocytosis, Neutrophilia, Elevated c... ORPHA:91547
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Harderoporphyria
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia, Reticulocytosis OMIM:618892
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Pancreatitis, Thrombocytopenia ORPHA:79312
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:610333
Osteopetrosis, Autosomal Dominant 3
Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... OMIM:300853
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, B lymphocytopen... OMIM:607594
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Bone Marrow Failure Syndrome 6
Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Gaucher Disease, Type I
Pancytopenia, Aortic valve stenosis, Splenomegaly, Hepatomegaly, Pulmonary arterial hypertension,... OMIM:230800
American Trypanosomiasis
Pallor, Splenomegaly, Hepatomegaly ORPHA:3386
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Hepatitis, Aplastic anemia OMIM:300635
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Hypocalcemia, Elevated circulating creatinine concentration OMIM:179800
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis ORPHA:172
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Leukopenia, Leukocytosis, Thrombocytosis, Lipid accumulation in hepatocytes, ... ORPHA:20
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Hepatic fibrosis OMIM:619658
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis OMIM:266200
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Hemochromatosis, Type 1
Cardiomegaly, Arrhythmia, Congestive heart failure, Splenomegaly, Hepatomegaly, Cardiomyopathy, A... OMIM:235200
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Senior-Loken Syndrome 8
Pallor, Hepatic cysts, Pancreatic cysts OMIM:616307
Waldenström Macroglobulinemia
Leukemia, Normocytic anemia, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Pallor, Purpura ORPHA:33226
Essential Thrombocythemia
Splenomegaly, Myocardial infarction, Transient ischemic attack, Acute leukemia, Abnormal platelet... ORPHA:3318
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Pulmonary arterial hyper... ORPHA:2414
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Gastrointestinal hemorrhage, Portal hypertension,... ORPHA:64743
Immunodeficiency 32B
Splenomegaly OMIM:226990
Cholestasis-Lymphedema Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Biliary t... ORPHA:1414
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Hurler-Scheie Syndrome
Abnormality of the tonsils, Cardiomyopathy, Splenomegaly, Hepatomegaly ORPHA:93476
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Irida Syndrome
Pallor, Intrahepatic cholestasis ORPHA:209981
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Splenomegaly, Ascites ORPHA:1046
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Hyperinsulinism Due To Hnf4A Deficiency
Increased hepatic glycogen content, Pancreatic islet-cell hyperplasia, Hepatomegaly, Elevated hep... ORPHA:263455
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Congestive heart failure, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly OMIM:269920
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver di... OMIM:616828
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Fanconi Anemia, Complementation Group I
Neutropenia, Pallor, Intrauterine growth retardation OMIM:609053
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Dysplastic Cortical Hyperostosis
Splenomegaly, Hepatomegaly ORPHA:2204
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Splenomegaly, Hemolytic anemia, Stomatocytosis, Epistaxis OMIM:153670
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic an... ORPHA:288
Beta-Ketothiolase Deficiency
Thrombocytosis, Pallor, Leukocytosis, Hepatomegaly ORPHA:134
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:2584
Transaldolase Deficiency
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Telangiectasia, ... OMIM:606003
Wolman Disease
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Thrombocytopenia, Reduced natura... OMIM:616050
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:612526
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Splenomegaly, Hemophagocytosis OMIM:618398
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Sickle Cell Anemia
Increased red cell sickling tendency, Cholelithiasis, Leukocytosis, Splenomegaly, Hepatomegaly, J... OMIM:603903
Diffuse Alveolar Hemorrhage
Anemia, Leukocytosis, Thrombocytopenia, Elevated circulating creatinine concentration ORPHA:90060
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Cholesteryl Ester Storage Disease
Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:75234
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy ORPHA:79477
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Blackfan-Diamond Anemia
Leukopenia, Pallor, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red ce... ORPHA:124
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemic pallor, Leukemia, Intrauterine growth retardation, Neutropenia, Anemia, Reti... OMIM:227645
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen, Intracrani... ORPHA:85212
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemic pallor, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:600901
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Leukopenia, Hepatosplenomegaly, Portal hypertension, Periportal fibrosis, Hepa... OMIM:278000
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Splenomegaly, Macrocytic anemia OMIM:619046
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:608885
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemic pallor, Leukemia, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia OMIM:227650
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Cholangitis, Thrombocytosis, Chronic hepatitis, M... ORPHA:3260
Sitosterolemia 1
Abnormality of the liver, Giant platelets, Splenomegaly, Chronic hemolytic anemia, Stomatocytosis... OMIM:210250
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Neuraminidase Deficiency
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Cardiomyopathy, Ascit... OMIM:256550
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Retinitis Pigmentosa 51
Pallor OMIM:613464
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia OMIM:605309
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Mitral regurgitation, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Neu... OMIM:612541
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Anemic pallor ORPHA:329971
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholestero... OMIM:618885
Fructose-1,6-Bisphosphatase Deficiency
Pallor, Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly ORPHA:348
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of neu... ORPHA:381
Prolidase Deficiency
Splenomegaly, Hepatomegaly, Anemia, Prolonged neonatal jaundice, Diffuse telangiectasia, Thromboc... OMIM:170100
Typhoid
Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia, Splenomegaly, Hepatomegaly, Epistaxis ORPHA:99745
Diamond-Blackfan Anemia 1
Pallor, Intrauterine growth retardation, Congenital hypoplastic anemia, Thrombocytosis, Elevated ... OMIM:105650
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly, Hepatomegaly, Pericarditis ORPHA:85414
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Myocarditis, Hepatomegaly,... ORPHA:829
Immunodeficiency 54
Lymphadenopathy, Splenomegaly, Hepatomegaly, Reduced natural killer cell count OMIM:609981
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Gray Platelet Syndrome
Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia, Epistaxis OMIM:139090
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Schistocytosis, Hyponatremia, Elevated circulating creatinine concentration, Leukocy... ORPHA:90038
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Hemol... OMIM:618935
Dravet Syndrome
Pallor ORPHA:33069
Tarp Syndrome
Extramedullary hematopoiesis ORPHA:2886
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, Neutropenia, An... ORPHA:158061
Felty Syndrome
Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Neutrope... ORPHA:47612
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Hepatitis, Acute hepa... ORPHA:905
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, L... ORPHA:39041
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Acholic stools, Cirrhosis OMIM:613812
Mastocytosis
Chronic leukemia, Mastocytosis, Gastrointestinal hemorrhage, Arrhythmia, Splenomegaly, Hypotensio... ORPHA:98292
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... ORPHA:86843
Budd-Chiari Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Peritonitis, Cholecystitis, Splenomegaly, Hepat... ORPHA:131
Adenohypophysitis
Pallor, Normochromic anemia ORPHA:95512
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Portal hypertension, Periportal fibrosis, Splenomegaly, Hepatocellular necrosi... OMIM:251880
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegal... ORPHA:91138
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Polycythemia Vera
Portal hypertension, Gastrointestinal hemorrhage, Pulmonary embolism, Splenomegaly, Hepatomegaly,... ORPHA:729
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly ORPHA:391
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:619183
Kaposiform Lymphangiomatosis
Subconjunctival hemorrhage, Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, ... ORPHA:464329
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Corneal neovasculariz... OMIM:617388
Mcleod Syndrome
Dilated cardiomyopathy, Splenomegaly, Hepatomegaly, Acanthocytosis, Atrial fibrillation, Cardiomy... OMIM:300842
Pituitary Apoplexy
Pallor, Normochromic anemia ORPHA:95613
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Biliary tract obstruction, Splenomegaly, Hepatomegaly, Pulmonary arteri... ORPHA:77259
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Tangier Disease
Left ventricular hypertrophy, Splenomegaly, Hepatomegaly, Myocardial infarction OMIM:205400
Fanconi Anemia, Complementation Group D2
Pancytopenia, Anemic pallor, Leukemia, Neutropenia, Anemia, Annular pancreas, Reticulocytopenia, ... OMIM:227646
Panhypophysitis
Pallor, Normochromic anemia ORPHA:95513
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Anemia, Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... OMIM:616100
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:252920
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, Cardiomyopathy, B lymphocytopenia, Hypochromi... OMIM:616084
Triosephosphate Isomerase Deficiency
Cholelithiasis, Normocytic anemia, Congestive heart failure, Cholecystitis, Splenomegaly, Jaundic... OMIM:615512
Primary Lipodystrophy
Hepatic steatosis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Hypertension, Pancreat... ORPHA:90970
Autoimmune Hepatitis
Spider hemangioma, Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Gastrointestinal hemorrhag... ORPHA:2137
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Spontaneous, recurrent epi... OMIM:214500
Niemann-Pick Disease, Type A
Microcytic anemia, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundic... OMIM:257200
Sheehan Syndrome
Pallor, Normochromic anemia, Dry skin ORPHA:91355
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Pulmonary arterial hypertension, Transient ... ORPHA:71493
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Anemia, Elevated circulating creatinine concentration ORPHA:230
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Immunodeficiency 36
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia OMIM:616005
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Decreased plasma total carnitine, Elevated circulating creatinine concentration, Elevated circula... OMIM:608836
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Cirrhosis OMIM:613027
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Decreased circulating apolipoprotein AI concentration, Elevated circulating c... ORPHA:85450
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Cerebral vasculitis, Neut... OMIM:613179
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normochromic anemia, Elevated circulating creatinine concentration, Normocytic anemia ORPHA:247691
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:3162
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Jaundice OMIM:235555
Autosomal Recessive Malignant Osteopetrosis
Pallor, Anemia, Splenomegaly, Hepatomegaly ORPHA:667
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Portal hypertension, Periportal fibrosis, Pancreatic cysts, Splenomegaly, Hepato... OMIM:263200
Tropical Endomyocardial Fibrosis
Abnormal ST segment, Right bundle branch block, Left bundle branch block, Atrial fibrillation, Pu... ORPHA:75565
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Von Hippel-Lindau Disease
Pancreatic cysts, Polycythemia, Pallor, Pancreatic islet cell adenoma, Neoplasm of the pancreas ORPHA:892
Legionnaires Disease
Bone marrow hypocellularity, Arrhythmia, Myocarditis, Hypotension, Splenomegaly, Pancreatitis, Ja... ORPHA:549
Retinitis Pigmentosa 75
Pallor OMIM:617023
Bacterial Toxic-Shock Syndrome
Increased circulating metamyelocyte count, Elevated circulating creatinine concentration, Increas... ORPHA:36234
Incontinentia Pigmenti
Pallor, Eosinophilia, Erythema, Leukocytosis OMIM:308300
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Acholic sto... OMIM:607765
Reynolds Syndrome
Biliary cirrhosis, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Lip telangi... OMIM:613471
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, HbH hemoglobin ORPHA:98791
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Mixed Connective Tissue Disease
Leukopenia, Gastrointestinal hemorrhage, Myocarditis, Splenomegaly, Hepatomegaly, Pulmonary arter... ORPHA:809
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Leukocytosis, Portal hypertension, Cholestasis, Cholangitis, C... ORPHA:53035
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Splenomegaly, Anemia, Hyperproteinemia ORPHA:29073
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Hemolytic anemia, Pancreatitis, Pallor, Thrombocytopenia ORPHA:544482
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:612387
Degcags Syndrome
Pancytopenia, Hepatosplenomegaly, Leukopenia, Congenital hypoplastic anemia, Intrauterine growth ... OMIM:619488
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice OMIM:618641
Adams-Oliver Syndrome 5
Splenomegaly, Pulmonic stenosis, Pulmonary arterial hypertension, Right ventricular hypertrophy, ... OMIM:616028
X-Linked Lymphoproliferative Disease
Pancytopenia, Histiocytosis, Absent natural killer cells, Increased T cell count, Hepatic necrosi... ORPHA:2442
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Dilated cardiomyopathy, Leukopenia, Hepatosplenomegaly, Leukocytosis, Portal hypert... OMIM:615688
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603553
Tay-Sachs Disease
Pallor OMIM:272800
Common Variable Immunodeficiency
Abnormality of the liver, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Hemolytic anemia... ORPHA:1572
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Hepatomegaly, Mitral stenosis, Cardiomegaly OMIM:231005
Q Fever
Abnormality of the liver, Hepatosplenomegaly, Abnormal left ventricular function, Cholecystitis, ... ORPHA:781
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Lymphopenia OMIM:617591
Scheie Syndrome
Hepatomegaly, Splenomegaly, Aortic regurgitation ORPHA:93474
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Splenomegaly, Hepatomegaly, Cardiomyopathy, Portal fibrosis, Cirr... ORPHA:370
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Splenomegaly, Hepatomegaly, Anemia, Cardiomyopathy, Portal fibros... ORPHA:264580
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Thro... OMIM:267700
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Chronic Granulomatous Disease
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Liver abscess, Mediastinal lymphadenopathy ORPHA:379
Juvenile Nephropathic Cystinosis
Hypokalemia, Hyponatremia, Elevated circulating creatinine concentration, Hypocalcemia, Hypourice... ORPHA:411634
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, Elevated ci... ORPHA:49041
Childhood Absence Epilepsy
Pallor ORPHA:64280
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Leukopenia, Normocytic anemia, Accessory sp... OMIM:300972
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, N... ORPHA:158048
Rare Circulatory System Disease
Pallor ORPHA:98028
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Hepatitis, Elev... ORPHA:3261
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Triglyceride Deposit Cardiomyovasculopathy
Arrhythmia, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Cardiomyopathy, Low-output conges... ORPHA:565612
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Niemann-Pick Disease, Type C1
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Bone-marrow foam cells, Sea-blue histioc... OMIM:257220
Glycogen Storage Disease Ii
Shortened PR interval, Wolff-Parkinson-White syndrome, Splenomegaly, Hepatomegaly, Cardiomegaly OMIM:232300
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Histiocytosis, Pancreatic hypoplasia, Splenomegaly, Cervical lymphadenopathy,... OMIM:602782
Niemann-Pick Disease, Type C2
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Bone-marrow foam cells, Sea-blue histioc... OMIM:607625
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic