Gene: Slc11a2 MGI:1345279

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2

Synonyms:

microcytic anemia, viable anaemia, DMT1, Nramp2, DCT1, van

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc11a2 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.

Human diseases associated with Slc11a2 (1 diseases)
Human diseases predicted to be associated with Slc11a2 (743 diseases)

The table below shows human diseases associated to Slc11a2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Anemia, Hypochromic Microcytic, With Iron Overload 1		Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:206100

The table below shows human diseases predicted to be associated to Slc11a2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Pallor, Short stature, Poiki...	OMIM:615631
Methemoglobin Reductase Deficiency	Abnormal erythrocyte morphology	OMIM:250700
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre...	OMIM:603902
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis	OMIM:603529
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase level	OMIM:615909
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Pallor, Splenomegaly	ORPHA:46532
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Pallor, Poikilocytosis, Growth dela...	OMIM:615234
Diamond-Blackfan Anemia 19	Steroid-responsive anemia, Anemia, Erythroid hypoplasia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,...	ORPHA:766
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Anemia, Sideroblastic, 1	Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,...	OMIM:300751
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Iron-Refractory Iron Deficiency Anemia	Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis	OMIM:206200
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox...	OMIM:206000
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia	OMIM:153550
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:300448
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane...	OMIM:205950
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,...	OMIM:237800
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Delayed puberty, Sideroblasti...	OMIM:600462
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Iron Overload In Africa	Elevated transferrin saturation	OMIM:601195
Breath-Holding Spells	Pallor, Iron deficiency anemia	OMIM:607578
Alpha-Thalassemia	Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism	ORPHA:846
Beta-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hypogonadotropic hypogon...	ORPHA:848
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Short stature, Pallor, Anisocytosis, Poikilocytosis, Anemia, A...	ORPHA:98870
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Acute Myelomonocytic Leukemia	Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia	ORPHA:517
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ...	ORPHA:86841
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia, Short stature	ORPHA:3319
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Mild postnatal growth retardation, Splenomegaly, Anisocytosis, S...	OMIM:224120
Cyanosis, Transient Neonatal	Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice	OMIM:613977
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly	ORPHA:231393
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly	ORPHA:228312
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
X-Linked Sideroblastic Anemia	Pallor, Anemia, Abnormality of iron homeostasis, Splenomegaly	ORPHA:75563
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Petechiae, Congenital thrombocytopenia, Acanthocytosis, Poikiloc...	OMIM:300367
Majeed Syndrome	Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti...	OMIM:609628
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia, Intrauterine growth retardation	ORPHA:2802
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep...	OMIM:616860
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Growth delay	OMIM:243320
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Hyperbiliru...	OMIM:613673
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly	OMIM:179700
Hemochromatosis, Type 2B	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Secondary am...	OMIM:613313
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly	ORPHA:294
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced...	OMIM:300908
Gracile Syndrome	Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles...	ORPHA:53693
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen...	ORPHA:75564
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites	Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia	OMIM:141700
Autoinflammation With Episodic Fever And Lymphadenopathy	Microcytic anemia, Splenomegaly	OMIM:618852
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Hepatosplenomegaly, Thrombocytosis, Microcytic anemia, Pancytopenia, Pyoderma gangrenosum	OMIM:604416
Sickle Cell Anemia	Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia	OMIM:616959
Elliptocytosis 1	Hemolytic anemia, Elliptocytosis, Pallor, Splenomegaly	OMIM:611804
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m...	OMIM:616689
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice	OMIM:224100
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly	OMIM:612126
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers...	ORPHA:231226
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Jaundice	ORPHA:33574
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:206100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem...	ORPHA:3202
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Decreased mean corpuscular volume, Failure to thrive, Hypokalemia, Pallor, Hepatosplenomegaly, He...	OMIM:611590
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Amenorrhea, Impotence, Lymphopenia, Cirrhosis, Hypo...	OMIM:604250
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Decreased hemoglobin concentration, Cholecyst...	OMIM:266200
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Erythema	ORPHA:79278
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Hyperlysinemia, Type I	Anemia	OMIM:238700
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E...	ORPHA:231214
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Short stature, Macrocytic anemia, Neutropenia, Growth delay	OMIM:612563
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope...	OMIM:610629
Diamond-Blackfan Anemia 4	Short stature, Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Growth delay, Reticulocytopenia	OMIM:612527
Atransferrinemia	Atransferrinemia, Abnormality of the liver, Hypochromic anemia	OMIM:209300
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis	OMIM:266140
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Growth delay, Hypersegmentation of neutrophil nuclei	OMIM:229100
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia	OMIM:301310
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short stature, Spherocytosis, Splenomegaly	ORPHA:66518
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia	OMIM:261000
Osteopetrosis, Autosomal Recessive 4	Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Dermatitis Herpetiformis	Skin vesicle, Microcytic anemia, Erythema	ORPHA:1656
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis	OMIM:301083
Rh Deficiency Syndrome	Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia...	ORPHA:71275
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye...	OMIM:619041
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Nonspherocytic hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Normocytic ane...	OMIM:235700
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia	OMIM:314050
Cryohydrocytosis	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly	OMIM:185020
Harderoporphyria	Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolo...	OMIM:618892
Primary Myelofibrosis	Petechiae, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepatosplenomegaly, ...	ORPHA:824
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Beta-Thalassemia Intermedia	Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o...	ORPHA:231222
Hereditary Elliptocytosis	Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, Elliptocytosis, Stom...	ORPHA:288
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf...	ORPHA:300298
African Iron Overload	Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno...	ORPHA:139507
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia	OMIM:618811
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Microcytic anemia, Hypochromic anemia	OMIM:618451
Blue Rubber Bleb Nevus	Microcytic anemia	ORPHA:1059
Spherocytosis, Type 2	Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis	OMIM:616649
Spherocytosis, Type 4	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice	OMIM:612653
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Pallor,...	OMIM:194380
Solute carrier family 4 (anion exchanger), member 1	Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re...	OMIM:109270
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal ...	OMIM:616278
Adenosine Triphosphate, Elevated, Of Erythrocytes	Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration	OMIM:102900
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Glycogen Storage Disease Vii	Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Incre...	OMIM:232800
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a...	OMIM:615550
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Erythrocytosis, Familial, 8	Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C...	OMIM:222800
Megaloblastic Anemia, Folate-Responsive	Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Episodic hemolyti...	OMIM:601775
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Postnatal growth retardation, Intrauterine growth retardation	OMIM:610198
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis...	OMIM:185000
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi...	OMIM:182900
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Plummer-Vinson Syndrome	Pallor, Decreased circulating ferritin concentration, Hypochromic microcytic anemia, Iron deficie...	ORPHA:54028
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis	ORPHA:90044
Hereditary Spherocytosis	Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hem...	ORPHA:822
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Pallor, Splenomegaly	ORPHA:163596
Combined Oxidative Phosphorylation Deficiency 53	Elevated circulating C-reactive protein concentration, Failure to thrive, Hepatomegaly, Hypochrom...	OMIM:619423
Majeed Syndrome	Failure to thrive, Hepatomegaly, Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Cache...	ORPHA:77297
Erythrocytosis, Familial, 4	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:611783
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Neutropenia, Pallor, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopen...	ORPHA:35858
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Oculocerebral Hypopigmentation Syndrome Of Preus	Growth delay, Hypochromic anemia	OMIM:257790
Erythrocytosis, Familial, 5	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617907
Diamond-Blackfan Anemia 9	Growth delay, Anemia	OMIM:613308
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Neutropenia	OMIM:251900
Erythrocytosis, Familial, 1	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly	OMIM:133100
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Increased erythrocyte protoporphyrin concentration, Iron deficiency anemia	OMIM:300752
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor, Megaloblastic anemia, Thrombocytopenia, Short stature	ORPHA:49827
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Failure to thrive, Small for gestational age, Increased serum pyruvate, Hypochromic microcytic an...	OMIM:619147
Diamond-Blackfan Anemia 5	Short stature, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia	OMIM:612528
Reticular Dysgenesis	Failure to thrive, Leukopenia, Abnormality of neutrophils, Weight loss, Decreased circulating ant...	ORPHA:33355
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Impotence, Hepatomegaly, Cirrhosis, Anemia, Hepatic...	OMIM:606069
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine	ORPHA:54057
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Nephronophthisis	Anemia	ORPHA:655
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:601859
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Failure to thrive, Hepatomegaly, Splenomegaly, Extramedulla...	OMIM:615285
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit	OMIM:609820
Sitosterolemia 1	Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ...	OMIM:210250
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia, Growth delay	OMIM:601815
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia, Short stature	ORPHA:98791
Leishmaniasis	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal ma...	ORPHA:507
Triokinase And Fmn Cyclase Deficiency Syndrome	Pancreatitis, Hepatomegaly, Microcytic anemia, Hypoalbuminemia, Hepatic steatosis, Failure to thr...	OMIM:618805
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis	OMIM:268150
Ménétrier Disease	Weight loss, Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia	ORPHA:2494
Erythrocytosis, Familial, 6	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617980
Immunodeficiency 89 And Autoimmunity	Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Increased...	OMIM:619632
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto...	OMIM:159550
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Congenital Atransferrinemia	Anemia	ORPHA:1195
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia	OMIM:300653
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Petechiae, Splenomegaly, Hemolytic anemia, Increased mean platelet volume, Ecchymosis, Stomatocyt...	OMIM:153670
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Microcytic anemia, Short stature	OMIM:619013
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Dry skin, Cutis laxa	OMIM:612379
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula...	OMIM:616084
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils, Short stature	ORPHA:2760
Tempi Syndrome	Increased hematocrit, Polycythemia, Increased circulating IgG level, Facial erythema, Ascites	ORPHA:284227
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia	OMIM:245900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis, Failure to thrive, Hepatomegaly	OMIM:604273
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
Ichthyosis, Congenital, Autosomal Recessive 5	White scaling skin, Acanthocytosis	OMIM:604777
Aceruloplasminemia	Increased circulating ferritin concentration, Abnormal pancreas morphology, Aceruloplasminemia, H...	ORPHA:48818
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Acatalasemia	Microcytic anemia	ORPHA:926
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Intrauterine growth retardation, Thrombocytopenia	OMIM:617021
Refractory Celiac Disease	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ...	ORPHA:398063
Formiminoglutamic Aciduria	Megaloblastic anemia, Anemia	ORPHA:51208
Acute Peripheral Arterial Occlusion	Pallor, Leukocytosis	ORPHA:90064
Erythrocytosis, Familial, 7	Polycythemia, Increased hematocrit	OMIM:617981
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Immunodeficiency 69	Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa...	OMIM:618963
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hemato...	OMIM:259720
Hemochromatosis, Type 2A	Increased circulating ferritin concentration, Amenorrhea, Infertility, Hepatomegaly, Splenomegaly...	OMIM:602390
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo...	OMIM:212050
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Microcytic anemia, Short stature	OMIM:619750
Hypermanganesemia With Dystonia 1	Hepatomegaly, Polycythemia, Cirrhosis, Hypermanganesemia, Unconjugated hyperbilirubinemia, Increa...	OMIM:613280
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia	OMIM:618849
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased mean corpuscular volume, Hepatocellular necrosis, Failure to thrive, Decreased circulat...	OMIM:618278
Abcd Syndrome	Polycythemia, Large for gestational age, Neonatal death	OMIM:600501
Developmental And Epileptic Encephalopathy 50	Anemia, Anisopoikilocytosis, Acanthocytosis, Schistocytosis	OMIM:616457
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia	ORPHA:713
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	HbH hemoglobin, Obesity, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:141750
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:603909
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Short stature, Splenomegaly, Microcytic anemia, Bone-marrow foam cells	OMIM:257200
Erythroleukemia, Familial, Susceptibility To	Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia	OMIM:133180
Autoimmune Hemolytic Anemia	Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly	ORPHA:98375
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Macrocytic anemia	OMIM:615578
Fanconi Anemia, Complementation Group T	Anemia, Thrombocytopenia, Short stature, Pancytopenia	OMIM:616435
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ...	ORPHA:2585
Cold Agglutinin Disease	Hemolytic anemia, Pallor, Splenomegaly	ORPHA:56425
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia	OMIM:598500
Erythrocytosis, Familial, 2	Increased red blood cell mass, Failure to thrive, Increased hemoglobin, Increased hematocrit	OMIM:263400
Evans Syndrome	Neutropenia in presence of anti-neutropil antibodies, Petechiae, Pallor, Autoimmune thrombocytope...	ORPHA:1959
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hypochromic microcytic anemia, Cholestasis, Hepatitis, Portal hyperten...	ORPHA:440713
Bleeding Disorder, Platelet-Type, 16	Petechiae, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Srd5A3-Cdg	Microcytic anemia	ORPHA:324737
Alpha-Heavy Chain Disease	Hypocalcemia, Hepatomegaly, Splenomegaly, Dysgammaglobulinemia, Anemia, Ascites, Premature ovaria...	ORPHA:100025
Barth Syndrome	Failure to thrive, Granulocytopenia, Hypochromic microcytic anemia, Cyclic neutropenia, Neutropenia	OMIM:302060
Acute Erythroid Leukemia	Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia	ORPHA:318
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia	OMIM:300946
3-Methylglutaconic Aciduria, Type Viia	Anemia, Anisopoikilocytosis, Neutropenia	OMIM:619835
Fanconi Anemia, Complementation Group G	Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia	OMIM:614082
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia, Intrauterine growth retardation	ORPHA:295
Pericardial Effusion, Chronic	Polycythemia	OMIM:260900
Acute Monoblastic/Monocytic Leukemia	Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat...	ORPHA:514
Porphyria Cutanea Tarda	Increased circulating ferritin concentration, Viral hepatitis, Periportal fibrosis, Chronic hepat...	ORPHA:101330
Wt Limb-Blood Syndrome	Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia	OMIM:194350
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Growth delay, Anemia, Thrombocytopenia	ORPHA:169079
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Purpura, Elevated circulating crea...	OMIM:235400
Dilated Cardiomyopathy With Ataxia	Normochromic microcytic anemia, Microvesicular hepatic steatosis, Hypochromic microcytic anemia, ...	ORPHA:66634
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Purpura, Asplenia, Short stature	ORPHA:3204
Letterer-Siwe Disease	Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia	OMIM:246400
Bone Marrow Failure Syndrome 5	Anemia, Pure red cell aplasia, Short stature	OMIM:618165
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia	OMIM:616176
Copper Deficiency, Familial Benign	Failure to thrive, Anemia, Decreased circulating copper concentration	OMIM:121270
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Anemia, Short stature, Neutropenia	OMIM:614900
Isolated Agammaglobulinemia	Failure to thrive, Abnormality of the lymphatic system, Abnormal lymphocyte morphology, Abnormali...	ORPHA:229717
Mu-Heavy Chain Disease	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight l...	ORPHA:100024
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis	OMIM:608898
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Aceruloplasminemia	Increased circulating ferritin concentration, Anemia, Aceruloplasminemia, Decreased serum iron	OMIM:604290
Refractory Anemia With Excess Blasts	Anemia of inadequate production, Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, T...	ORPHA:86839
Immunodeficiency 52	Failure to thrive, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia,...	OMIM:617514
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia	OMIM:229050
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor, Splenomegaly	ORPHA:90037
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Growth delay, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Symptomatic Form Of Hemochromatosis Type 1	Increased circulating ferritin concentration, Amenorrhea, Cholangiocarcinoma, Testicular atrophy,...	ORPHA:465508
Klippel-Trénaunay Syndrome	Microcytic anemia	ORPHA:90308
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia	OMIM:600546
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Pro...	OMIM:274150
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Hereditary Folate Malabsorption	Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia	ORPHA:90045
Hemochromatosis Type 2	Increased circulating ferritin concentration, Impotence, Abnormality of endocrine pancreas physio...	ORPHA:79230
Aregenerative Anemia	Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased...	ORPHA:101096
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Short stature, Severe postnatal growth retardation, Microcytic anemia, Delayed puberty, Moderate ...	ORPHA:293967
Bone Marrow Failure Syndrome 4	Short stature, Leukopenia, Dry skin, Rhizomelia, Anemia, Thrombocytopenia	OMIM:618116
Thrombocytopenia 5	Anemia, Thrombocytopenia, Petechiae, Neutropenia	OMIM:616216
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h...	ORPHA:444463
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Diamond-Blackfan Anemia 20	Anemia, Erythroid hypoplasia	OMIM:618313
Fumarase Deficiency	Failure to thrive, Hyperbilirubinemia, Polycythemia, Pallor, Cholestasis	OMIM:606812
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Sideroblastic anemia	OMIM:613561
Idiopathic Pulmonary Hemosiderosis	Failure to thrive, Hepatomegaly, Pallor, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly	ORPHA:99931
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Short stature	OMIM:249270
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,...	OMIM:613101
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemia, Anemic pallor	ORPHA:329971
Infantile Liver Failure Syndrome 1	Anemia, Macrocytic anemia	OMIM:615438
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Anemia of inadequate production, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomega...	OMIM:612714
Livedoid Vasculopathy	Leukocytosis, Abnormal circulating lipid concentration, Polycythemia, Macular purpura, Hyperhomoc...	ORPHA:542643
Somatostatinoma	Neoplasm of the pancreas, Abnormal abdomen morphology, Gallbladder dysfunction, Hepatomegaly, Ext...	ORPHA:97283
Retinitis Pigmentosa 42	Pallor	OMIM:612943
Ollier Disease	Skin ulcer, Anemia, Lymphangioma	ORPHA:296
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr...	OMIM:607616
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Erythema, Dry skin, Skin ulcer, Abnormal lymphocyte morphology, Lymph...	ORPHA:2584
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper...	OMIM:603552
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In...	OMIM:209950
X-Linked Agammaglobulinemia	Failure to thrive, Hypocalcemia, Abnormality of the lymphatic system, Abnormality of the tonsils,...	ORPHA:47
Anemia, Congenital Dyserythropoietic, Type Iiia	Anemia of inadequate production, Macrocytic anemia, Congenital hypoplastic anemia	OMIM:105600
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Prolidase Deficiency	Increased circulating antibody level, Failure to thrive, Petechiae, Hepatomegaly, Splenomegaly, P...	OMIM:170100
Hypobetalipoproteinemia, Familial, 1	Acanthocytosis	OMIM:615558
Hemochromatosis, Type 1	Increased circulating ferritin concentration, Amenorrhea, Testicular atrophy, Impotence, Hepatome...	OMIM:235200
Chylomicron Retention Disease	Growth delay, Acanthocytosis	ORPHA:71
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia	OMIM:615085
Familial Benign Copper Deficiency	Anemia, Decreased circulating copper concentration	ORPHA:1551
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:301040
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism	OMIM:183350
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Decreased circulating anti...	OMIM:226300
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Megaloblastic anemia	OMIM:250940
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Hepatocellular necrosis, Cirrhosis, Cholestasis, Ab...	OMIM:231100
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor	ORPHA:90036
Poems Syndrome	Increased circulating antibody level, Polycythemia, Thrombocytosis, Erectile dysfunction, Viscero...	ORPHA:2905
Vitamin B12-Unresponsive Methylmalonic Acidemia	Anemia, Thrombocytopenia, Leukopenia, Macrocytic anemia	ORPHA:27
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut...	OMIM:614470
Congenital Disorder Of Glycosylation, Type Ii	Decreased body weight, Hepatomegaly, Iron deficiency anemia	OMIM:607906
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia, Iron deficiency anemia	ORPHA:89937
Amme Complex	Elliptocytosis, Intrauterine growth retardation	OMIM:300194
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Decreased circulating ferritin concentration, Hepa...	ORPHA:309854
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Megaloblastic anemia	OMIM:236270
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Retinitis Pigmentosa 81	Pallor	OMIM:617871
Asplenia, Isolated Congenital	Thrombocytosis, Asplenia, Howell-Jolly bodies	OMIM:271400
Sickle Cell Anemia	Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Increased red cell sickling tendency	OMIM:603903
Retinitis Pigmentosa 60	Pallor	OMIM:613983
Kasabach-Merritt Syndrome	Petechiae, Leukopenia, Reticulocytosis, Hepatic hemangioma, Abnormal lymphatic vessel morphology,...	ORPHA:2330
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Megaloblastic anemia, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology	ORPHA:2575
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism	OMIM:610539
Wolcott-Rallison Syndrome	Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Lymphocytosis, Hyperbilir...	ORPHA:1667
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc...	ORPHA:3261
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Splenomegaly, Increased serum pyruvate, Hyperprolinemia, Macrocytic anemia, Hy...	OMIM:619046
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Pallor, Splenomegaly	ORPHA:90033
Idiopathic Aplastic Anemia	Pancytopenia, Ecchymosis, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Ret...	ORPHA:88
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Increased circulating copper concentration, Hepatic steatosis, Copper accumulation in ...	ORPHA:209919
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Progeria-Short Stature-Pigmented Nevi Syndrome	Short stature, Microcytic anemia, Delayed puberty, T lymphocytopenia	ORPHA:2959
Monosomy 22	Hepatosplenomegaly, Hypochromic microcytic anemia, Aplasia of the thymus	ORPHA:96123
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Anemia	OMIM:246450
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Pancreatitis, Leukocytosis, Peritonitis, Schistocytosis, Elevated circulating creati...	ORPHA:90038
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Poikilocytosis, Premature skin wrinkling, Growth delay, Intrau...	OMIM:618947
Trichohepatoenteric Syndrome 1	Failure to thrive, Hepatomegaly, Splenomegaly, Small for gestational age, Cirrhosis, Cholestasis,...	OMIM:222470
Immunodeficiency 96	Increased mean corpuscular volume, Growth delay, Increased proportion of gamma-delta T cells	OMIM:619774
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Abnormal neutrophil count, Throm...	ORPHA:3226
Agammaglobulinemia 8B, Autosomal Recessive	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr...	OMIM:619824
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Prolonged neonatal jaundice, Increased serum iron, ...	ORPHA:446
Immunodeficiency 64	Failure to thrive, Increased circulating IgA level, Defective T cell proliferation, Decreased cir...	OMIM:618534
Maternal Uniparental Disomy Of Chromosome 4	Postnatal growth retardation, Short stature, Acanthocytosis, Abnormal erythrocyte morphology	ORPHA:96180
Optic Atrophy 9	Pallor	OMIM:616289
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level, Pyoderma gan...	OMIM:616576
Hereditary Cryohydrocytosis With Reduced Stomatin	Short stature, Hepatosplenomegaly, Spontaneous hemolytic crises, Stomatocytosis, Postnatal growth...	ORPHA:168577
Syndromic Diarrhea	Lymphopenia, Hepatomegaly, Hepatoblastoma, Splenomegaly, Small for gestational age, Cirrhosis, Hy...	ORPHA:84064
Hepatocellular Carcinoma	Abnormality of the hepatic vasculature, Abnormality of the liver, Hepatomegaly, Hemobilia, Hyperb...	ORPHA:88673
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia, Postnatal growth...	ORPHA:2169
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187950
Congenital Erythropoietic Porphyria	Splenomegaly, Anisocytosis, Leukopenia, Increased erythrocyte protoporphyrin concentration, Hemol...	ORPHA:79277
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Gracile Syndrome	Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho...	OMIM:603358
Wiskott-Aldrich Syndrome	Petechiae, Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Hemolytic anemi...	ORPHA:906
Gray Platelet Syndrome	Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly	ORPHA:721
Myelofibrosis	Pallor, Myeloproliferative disorder, Purpura, Splenomegaly	OMIM:254450
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Leukocytosis, Short stature, Microcytic anemia, Skin vesicle, Anemia, Intrauterine ...	ORPHA:99843
Celiac Disease, Susceptibility To, 1	Infertility, Decreased circulating IgA level, Hypocalcemia, Failure to thrive, Iron deficiency an...	OMIM:212750
Short Stature With Microcephaly And Distinctive Facies	Anemia, Anisopoikilocytosis, Severe short stature	OMIM:615789
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Pallor, Myeloproliferati...	ORPHA:98849
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Short stature, Neutropenia	OMIM:617243
Immunodeficiency 47	Exocrine pancreatic insufficiency, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Prolonge...	OMIM:300972
Orthostatic Hypotension 2	Anemia	OMIM:618182
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro...	OMIM:608203
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Pallor, Eosinophilia, Hepatosplenomegaly, Abnormal B cell cou...	ORPHA:331206
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Pearson Syndrome	Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Hypomagnesemia, Hypophosphatemia, S...	ORPHA:699
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat...	OMIM:150550
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ...	OMIM:616050
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating tyrosine concentration, Failure to thrive, Hypoargininemia, Abnormal circula...	ORPHA:79096
Acquired Von Willebrand Syndrome	Metrorrhagia, Hypochromic anemia, Menorrhagia, Normocytic anemia, Refractory anemia	ORPHA:99147
Retinohepatoendocrinologic Syndrome	Pallor	OMIM:268040
Mcleod Syndrome	Acanthocytosis, Splenomegaly	OMIM:300842
Transcobalamin Ii Deficiency	Failure to thrive, Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level,...	OMIM:275350
Abetalipoproteinemia	Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi...	ORPHA:14
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age	ORPHA:621
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perioral erythema, Failure to thrive, Hepatomegaly, Splenomegaly, Impaired T cell function, Dry s...	OMIM:201100
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor, Short stature	ORPHA:2786
Pancreatic Colipase Deficiency	Megaloblastic anemia	ORPHA:309108
Paroxysmal Nocturnal Hemoglobinuria	Impotence, Increased blood urea nitrogen, Leukopenia, Reticulocytosis, Abnormal erythrocyte enzym...	ORPHA:447
Dohle Bodies And Leukemia	Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia	OMIM:223350
H Syndrome	Histiocytosis, Short stature, Hepatosplenomegaly, Microcytic anemia, Delayed puberty	ORPHA:168569
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Short stature, Granulocytopenia, Macrocytic anemia	OMIM:606164
Neutrophilic Dermatosis, Acute Febrile	Elevated circulating C-reactive protein concentration, Anemia, Erythema, Pyoderma gangrenosum	OMIM:608068
Schnitzler Syndrome	Hepatomegaly, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy	ORPHA:37748
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Skin ulcer, Erythema	ORPHA:542592
8P11.2 Deletion Syndrome	Spherocytosis, Short stature, Splenomegaly, Hemolytic anemia, Growth delay	ORPHA:251066
Wolfram Syndrome 1	Megaloblastic anemia, Sideroblastic anemia, Growth delay, Thrombocytopenia	OMIM:222300
Takayasu Arteritis	Skin ulcer, Anemia, Weight loss	ORPHA:3287
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Failure to thrive, Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased ci...	OMIM:618213
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Decreased serum thromboxane B2, Impaired platelet aggregation, Abnormal c...	OMIM:618372
Omenn Syndrome	Failure to thrive, Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the t...	OMIM:603554
Fanconi Anemia, Complementation Group E	Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reti...	OMIM:600901
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Leukocyte Adhesion Deficiency, Type Iii	Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of...	OMIM:612840
Chilblain Lupus	Skin ulcer, Increased circulating antibody level, Chronic myelomonocytic leukemia	ORPHA:90280
Oslam Syndrome	Anemia	OMIM:165660
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Hepatosplenomegaly, Weight loss, Hemophagocytosis	ORPHA:86884
Blackfan-Diamond Anemia	Increased mean corpuscular volume, Neutropenia, Short stature, Persistence of hemoglobin F, Pallo...	ORPHA:124
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Pallor, Refractory sideroblastic anemia, E...	OMIM:557000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Hepatomegaly, Splenomegaly, Increased circulating IgG level, Autoimmune hemoly...	OMIM:618495
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia	OMIM:255125
Lymphoproliferative Syndrome 1	Increased circulating ferritin concentration, Decreased circulating IgG level, Hepatomegaly, Elev...	OMIM:613011
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy	ORPHA:66661
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Growth delay, Thrombocytopenia, Normochromic anemia, Neutropenia	OMIM:614857
Diamond-Blackfan Anemia 10	Steroid-responsive anemia, Short stature, Macrocytic anemia, Growth delay, Anemia, Reticulocytopenia	OMIM:613309
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,...	ORPHA:37042
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Growth delay, Intrauterine gro...	OMIM:612562
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Hamamy Syndrome	Microcytic anemia, Hypochromic anemia	OMIM:611174
Blue Rubber Bleb Nevus	Thrombocytopenia, Abnormality of the liver, Iron deficiency anemia	OMIM:112200
Gaucher Disease, Type Ii	Failure to thrive, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia, Neutropenia, Anemia,...	ORPHA:79312
Congenital Disorder Of Glycosylation, Type Iit	Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine, Iron de...	OMIM:618885
Optic Atrophy 1	Pallor	OMIM:165500
Fanconi Anemia, Complementation Group A	Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reti...	OMIM:227650
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Free Sialic Acid Storage Disease	Hepatomegaly, Splenomegaly, Skin ulcer, Ascites, Failure to thrive in infancy	ORPHA:834
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Glycogen Storage Disease Xii	Nonspherocytic hemolytic anemia, Splenomegaly, Short stature, Normocytic anemia, Delayed puberty,...	OMIM:611881
Auditory Neuropathy And Optic Atrophy	Pallor	OMIM:617717
Retinitis Pigmentosa 70	Pallor	OMIM:615922
Dermatitis, Atopic	Pallor, Dry skin, Facial erythema	OMIM:603165
Combined Immunodeficiency Due To Dock8 Deficiency	Skin ulcer, Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia	ORPHA:217390
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Lathosterolosis	Intrauterine growth retardation, Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased body weight, Abnormal circulating selenium concentration, Decreased ...	ORPHA:89842
Wilson Disease	Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic steatosis, Abn...	ORPHA:905
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Intrauterine growth retardation, Normochromic anemia	OMIM:618775
Hydatidiform Mole	Anemia	ORPHA:99927
Wolman Disease	Hepatomegaly, Splenomegaly, Cachexia, Anemia, Bone-marrow foam cells, Ascites	ORPHA:75233
Retinitis Pigmentosa 27	Pallor	OMIM:613750
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Lymphopen...	OMIM:600903
Sepsis In Premature Infants	Petechiae, Leukocytosis, Splenomegaly, Pallor, Purpura, Neutropenia, Anemia, Thrombocytopenia	ORPHA:90051
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia	OMIM:301054
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi...	OMIM:618398
Fanconi Anemia, Complementation Group C	Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Intr...	OMIM:227645
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepa...	OMIM:308240
Lead Poisoning	Infertility, Decreased male libido, Increased LDL cholesterol concentration, Reduced sperm motili...	ORPHA:330015
Eisenmenger Syndrome	Increased mean corpuscular volume, Hepatomegaly, Elevated circulating C-reactive protein concentr...	ORPHA:97214
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Iron deficiency anemia,...	OMIM:269200
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea...	OMIM:619375
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c, Intrauterine growth retardation	OMIM:606176
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Spontaneous hemolytic crises, Impa...	OMIM:613470
Hereditary Hemorrhagic Telangiectasia	Microcytic anemia	ORPHA:774
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Lymphocytosis, Iron deficiency anemia, Thr...	OMIM:301074
Marburg Hemorrhagic Fever	Increased circulating antibody level, Petechiae, Lymphopenia, Pancreatitis, Hypokalemia, Hyperamm...	ORPHA:99826
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice, Hyperkalemia	OMIM:608885
Liver Disease, Severe Congenital	Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He...	OMIM:619991
Waldenström Macroglobulinemia	Splenomegaly, Pallor, Normocytic anemia, Abnormality of neutrophils, Purpura, Leukemia	ORPHA:33226
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Lathosterolosis	Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Increased mean platelet ...	OMIM:607330
Kearns-Sayre Syndrome	Sideroblastic anemia, Short stature	OMIM:530000
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hemophagocytosis, ...	OMIM:267700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Hepatomegaly, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein co...	OMIM:615688
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age	OMIM:618858
Retinitis Pigmentosa 73	Pallor	OMIM:616544
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating antibody level, Failure to thrive, Increased circulating IgA level, Hepatom...	OMIM:256040
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Omenn Syndrome	Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Dry skin, Abnormal lym...	ORPHA:39041
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cirrhosis, Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic iron concentration	OMIM:300868
Wiskott-Aldrich Syndrome	Decreased specific anti-polysaccharide antibody level, Petechiae, Increased circulating IgA level...	OMIM:301000
Von Hippel-Lindau Syndrome	Polycythemia, Hepatic hemangioma, Pancreatic cysts, Neoplasm of the pancreas	OMIM:193300
Lysosomal Acid Lipase Deficiency	Failure to thrive, Hepatomegaly, Periportal fibrosis, Increased LDL cholesterol concentration, Sp...	OMIM:278000
Fanconi Anemia, Complementation Group I	Pallor, Short stature, Intrauterine growth retardation, Neutropenia	OMIM:609053
Mevalonic Aciduria	Failure to thrive, Fluctuating hepatomegaly, Elevated circulating C-reactive protein concentratio...	OMIM:610377
Trichohepatoenteric Syndrome 2	Failure to thrive, Hepatomegaly, Small for gestational age, Cirrhosis, Chronic hepatitis, Decreas...	OMIM:614602
Cartilage-Hair Hypoplasia	Neonatal short-limb short stature, Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia,...	OMIM:250250
Purine Nucleoside Phosphorylase Deficiency	Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegal...	OMIM:613179
Triosephosphate Isomerase Deficiency	Splenomegaly, Normocytic anemia, Macrocytic anemia, Hemolytic anemia, Chronic hemolytic anemia, N...	OMIM:615512
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Failure to thrive, Overweight, Decreased serum iron	ORPHA:391372
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Overweight, Increased size of nasopharyngeal adenoids	OMIM:619769
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c	OMIM:619278
Myoclonus, Intractable, Neonatal	Pallor	OMIM:617235
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Macular purpura, Thrombocytopenia, Pyoderm...	ORPHA:49566
Neuroendocrine Tumor Of Stomach	Chronic noninfectious lymphadenopathy, Weight loss, Hepatomegaly, Iron deficiency anemia	ORPHA:100075
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Increased circulating IgA level, Hepatomegaly, Elevated circulating C-reactive...	OMIM:617388
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Failure to thrive, Hepatomegaly, Hemophagocytosis, ...	OMIM:603553
Pgm3-Cdg	Failure to thrive, Abnormal proportion of CD8-positive T cells, Increased circulating IgA level, ...	ORPHA:443811
Shwachman-Diamond Syndrome 1	Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Small for gestational age, Pe...	OMIM:260400
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c	OMIM:610582
Adenohypophysitis	Pallor, Normochromic anemia	ORPHA:95512
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa...	ORPHA:64743
Late-Onset Isolated Acth Deficiency	Failure to thrive, Eosinophilia, Normocytic anemia, Dry skin, Macrocytic anemia, Hepatitis, Hyper...	ORPHA:199299
Cryoglobulinemic Vasculitis	Petechiae, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Purpura, Ski...	ORPHA:91138
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Impaired memory B cell generation, Absence of lymph node germinal center, Decreased...	OMIM:308230
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Petechiae, Hepatomegaly, Cholestatic liver disease,...	ORPHA:540
Portal Hypertension, Noncirrhotic, 2	Petechiae, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia...	OMIM:619463
Shwachman-Diamond Syndrome	Increased mean corpuscular volume, Neutropenia, Short stature, Leukopenia, Aplastic anemia, Normo...	ORPHA:811
Diamond-Blackfan Anemia 1	Congenital hypoplastic anemia, Pallor, Short stature, Thrombocytosis, Neutropenia, Thrombocytopen...	OMIM:105650
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Hemophagocytosis, Decreased proportion of CD4+CD25+...	OMIM:619802
Pyoderma Gangrenosum	Skin ulcer, Increased circulating antibody level, Skin vesicle, Myeloid leukemia	ORPHA:48104

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