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Gene: Slc20a1 MGI:108392

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 20, member 1

Synonyms:

Glvr1, PiT-1, Glvr-1

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 Slc20a1 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 Slc20a1 (0 diseases)
Human diseases predicted to be associated with Slc20a1 (1000 diseases)

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

The table below shows human diseases predicted to be associated to Slc20a1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor...	ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure	ORPHA:46532
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Aniso...	OMIM:615631
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Mild postnatal growth retardation, Re...	OMIM:224120
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short stature, Spherocytosis, Splenomegaly	ORPHA:66518
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Osteopetrosis, Autosomal Recessive 4	Petechiae, Splenomegaly, Reticulocytosis, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, ...	OMIM:611490
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri...	ORPHA:2133
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Glutamate-Cysteine Ligase Deficiency	Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia, Intrauterine growth retardation	ORPHA:2802
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Intrauterine growth retardation, Reticulocytosis, Macrocytic ...	ORPHA:71275
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Decreased skull ossification, Thrombocytopenia, Anemia, Short stature	ORPHA:3319
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Pallor, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, El...	OMIM:615234
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Hepatosplenomegaly, Pallor, Reticulocytosis, Short stature, Decreased mean corpuscular v...	OMIM:611590
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Episodic hemolytic anemia, Schistocytosis, Hypersegmentat...	OMIM:601775
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growt...	OMIM:266200
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Aicardi-Goutieres Syndrome 6	Intrauterine growth retardation, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	OMIM:615010
Acute Myelomonocytic Leukemia	Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	ORPHA:517
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Hyperlipidemia, Reticulocytosis, Schistocytosis, Thrombocytope...	OMIM:235400
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
X-Linked Sideroblastic Anemia	Anemia, Pallor, Splenomegaly	ORPHA:75563
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
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Beta-Thalassemia	Cholelithiasis, Skin ulcer, Hepatitis, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglob...	ORPHA:848
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity	OMIM:618660
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Porphyria, Acute Hepatic	Hemolytic anemia	OMIM:612740
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Pallor, Splenomeg...	OMIM:194380
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Skin ulcer, Postnatal growth retardation, Abnormal erythrocyte mo...	ORPHA:288
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Disproportionate short stature, Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thr...	OMIM:301110
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Harderoporphyria	Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia	OMIM:618892
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Thrombocytopenia, Prolonged n...	OMIM:274150
Elliptocytosis 1	Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia	OMIM:611804
Thrombocytopenia, Anemia, And Myelofibrosis	Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis	OMIM:617441
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Cold Agglutinin Disease	Pallor, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Sitosterolemia 1	Stomatocytosis, Giant platelets, Xanthelasma, Reticulocytosis, Splenomegaly, Episodic hemolytic a...	OMIM:210250
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia	OMIM:245900
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Hb Bart'S Hydrops Fetalis	Pallor, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia	ORPHA:163596
Congenital Atransferrinemia	Anemia, Arthritis, Abnormality of the pancreas	ORPHA:1195
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Developmental And Epileptic Encephalopathy 50	Anemia, Acanthocytosis, Schistocytosis, Anisopoikilocytosis	OMIM:616457
8P11.2 Deletion Syndrome	Growth delay, Splenomegaly, Spherocytosis, Short stature, Hemolytic anemia	ORPHA:251066
Babesiosis	Limitation of joint mobility, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice,...	ORPHA:108
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Thrombotic Thrombocytopenic Purpura	Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Abnormal erythrocyte morphology, Pallor, Anisocytosis, Poikilo...	ORPHA:98870
Ghosal Hematodiaphyseal Dysplasia	Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly	ORPHA:1802
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia	OMIM:205950
Leishmaniasis	Skin ulcer, Pancytopenia, Leukopenia, Pallor, Splenomegaly, Abnormal macrophage morphology, Hepat...	ORPHA:507
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Petechiae, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc...	OMIM:300367
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi...	ORPHA:35858
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia	OMIM:608898
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hepatosplenomegaly, Pallor, Reticulocytopenia, Dysplastic erythropoesis, Elevated hepatic iron co...	ORPHA:300298
Protoporphyria, Erythropoietic, 1	Erythema, Cholelithiasis, Hemolytic anemia, Hypertriglyceridemia	OMIM:177000
Anemia, Sideroblastic, 1	Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro...	OMIM:300751
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Sideroblastic anemia, Pallor, Growth delay	OMIM:613561
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemi...	OMIM:607616
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Osteoporosis, Osteolysis	ORPHA:100024
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Glycogen Storage Disease Vii	Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Reticulocytosis, ...	OMIM:232800
Nephronophthisis	Anemia	ORPHA:655
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,...	OMIM:300835
Heme Oxygenase 1 Deficiency	Growth delay, Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thromb...	OMIM:614034
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Rosaï-Dorfman Disease	Anemia, Erythema, Lymphadenopathy, Osteolysis	ORPHA:158014
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Peritonitis, Pancreatitis, Schi...	ORPHA:90038
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Pallor, Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Growth delay	ORPHA:100025
Diamond-Blackfan Anemia 9	Anemia, Growth delay	OMIM:613308
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Hemolytic Anemia, Congenital, X-Linked	Jaundice, Hemolytic anemia	OMIM:301015
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myelofibrosis...	OMIM:254450
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, Lymphadenopathy, Thrombocytop...	OMIM:603552
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Purpura, Short stature	ORPHA:3204
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hemolytic anemia	OMIM:609153
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Anemia, Postnatal growth retardation, Severe short stature	OMIM:618728
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Petechiae, Ecchymosis, Thrombocytopenia, Hemolytic anemia, Increase...	OMIM:153670
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased mean c...	ORPHA:231214
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Short stature, Growth delay	OMIM:612527
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Petechiae, Elev...	OMIM:603909
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia, ...	OMIM:613839
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Pallor, In...	OMIM:301310
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia	OMIM:615085
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis	OMIM:266120
Fetal Parvovirus Syndrome	Anemia, Intrauterine growth retardation, Ascites, Thrombocytopenia	ORPHA:295
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Arthritis, Thrombocytopenia	OMIM:152700
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:600462
Drug-Induced Autoimmune Hemolytic Anemia	Pallor, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Hypochromia, Elevated hepatic iron concentration, Anemia, Decreased mean c...	OMIM:206100
Dominant Beta-Thalassemia	Hepatic fibrosis, Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence o...	ORPHA:231226
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Letterer-Siwe Disease	Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice	OMIM:246400
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Thrombocytopenia, Leukemia, Growth delay	OMIM:614082
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Rhizomelia, Dry skin, Leukopenia, Thrombocytopenia, Anemia, Short st...	OMIM:618116
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Splenomegaly, Hepatomegaly, Anemia, Recurrent fractures	OMIM:618107
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	Acanthocytosis	OMIM:607236
Rh-Null, Regulator Type	Jaundice, Stomatocytosis, Hemolytic anemia	OMIM:268150
Fibrodysplasia Ossificans Progressiva	Synostosis of joints, Limitation of joint mobility, Ectopic ossification in ligament tissue, Ecto...	ORPHA:337
Evans Syndrome	Pallor, Petechiae, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:1959
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,...	ORPHA:398124
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Majeed Syndrome	Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate...	OMIM:609628
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hypertrigl...	OMIM:613101
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increased bone mine...	ORPHA:37748
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, P...	ORPHA:101096
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia	OMIM:615399
Acute Erythroid Leukemia	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia	ORPHA:318
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Cal...	OMIM:612714
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Abnormal lymphatic ves...	ORPHA:2330
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Dry skin, Mild intrauterine growth retardation, Increased HbA2 hemoglob...	OMIM:616943
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Growth delay, Splenomegaly, Short stature, Hepatomegaly, Jaundice, Hemolytic anemia	OMIM:608885
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H...	OMIM:616860
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso...	OMIM:618278
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Petechiae, Thrombocytopenia, Anemia, Macrothrombocytopenia	OMIM:187800
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Pallor, Lymphadenopathy,...	ORPHA:3226
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi...	OMIM:304790
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia	OMIM:612300
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Galactosemia I	Hepatomegaly, Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity, Cirrhosis, ...	OMIM:230400
Diamond-Blackfan Anemia 5	Leukopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Short stature	OMIM:612528
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl...	OMIM:618849
Immunodeficiency 114, Folate-Responsive	Skin ulcer, Lymphopenia, Postnatal growth retardation, Splenomegaly, Megaloblastic anemia, Thromb...	OMIM:620603
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Ichthyosis, Congenital, Autosomal Recessive 5	White scaling skin, Acanthocytosis	OMIM:604777
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Radioulnar synostosis, Limited pronation/supination of forearm, Congenital th...	OMIM:616738
Diamond-Blackfan Anemia 12	Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ...	OMIM:615550
Hemochromatosis, Type 2B	Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia	OMIM:613313
Autoimmune Hemolytic Anemia, Warm Type	Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice	ORPHA:90033
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia, Growth delay	ORPHA:169079
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Anemia	OMIM:610090
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont...	OMIM:604416
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Salmonella osteomyelitis, Lymphadenopathy, Thromb...	OMIM:209950
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Intermediate Osteopetrosis	Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Increased susceptibility to fractures, Abn...	ORPHA:210110
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Growth delay	ORPHA:57
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Petechiae, Splenomegaly, Hepatomegaly, Anemia, Purpura	OMIM:620296
Lcat Deficiency	Hemolytic anemia, Hypertriglyceridemia	ORPHA:650
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Transaldolase Deficiency	Premature skin wrinkling, Hepatosplenomegaly, Cirrhosis, Thrombocytopenia, Anemia	ORPHA:101028
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio...	OMIM:606367
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Shor...	OMIM:616435
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Growth delay	OMIM:243320
Chylomicron Retention Disease	Hypocholesterolemia, Acanthocytosis, Hepatic steatosis, Steatorrhea, Growth delay, Increased hepa...	ORPHA:71
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Pallor, Cardiomegaly, Iron deficiency anemia, Hepatomegaly	ORPHA:99931
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy, Petechiae, Ecchymosis, Anemia	OMIM:620514
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura	OMIM:614514
Hypobetalipoproteinemia, Familial, 1	Steatorrhea, Hypocholesterolemia, Acanthocytosis, Hypertriglyceridemia	OMIM:615558
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Increased...	ORPHA:98849
Ollier Disease	Skin ulcer, Joint stiffness, Anemia, Lymphangioma, Osteolysis	ORPHA:296
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Intrauterine growth retardation, Macroc...	OMIM:620501
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Isolated Agammaglobulinemia	Skin ulcer, Abnormal lymphocyte morphology, Abnormality of the lymphatic system, Abnormality of t...	ORPHA:229717
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Growth delay, Steatorrhea	ORPHA:75233
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD...	ORPHA:331206
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Congenital Toxoplasmosis	Ascites, Intrauterine growth retardation, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocyt...	ORPHA:858
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Hereditary Folate Malabsorption	Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Reticular Dysgenesis	Skin ulcer, Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils	ORPHA:33355
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Leukopenia, Hemolytic anemia, Joint stiffness, Splenomegaly, Lymphad...	ORPHA:809
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Mcleod Syndrome	Hepatomegaly, Acanthocytosis, Splenomegaly	OMIM:300842
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia, Growth delay	ORPHA:79402
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Postnatal growth retardation, Splenomegaly, Decreased proportion of ...	OMIM:620632
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ...	ORPHA:100026
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Splenomegaly, Ascites	ORPHA:1046
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Stomatocytosis, Postnatal growth retardation, Hepatosplenomegaly, S...	ORPHA:168577
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Ecchymosis, Reticulocytopenia, Thrombocytopenia, Neutr...	ORPHA:88
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612926
Paroxysmal Cold Hemoglobinuria	Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia	ORPHA:90035
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Hepatic fibrosis, Ascites, Dry skin, Hepatosplenomegaly, Intrauterine growth ...	OMIM:619487
Porphyria, Congenital Erythropoietic	Osteopenia, Cholelithiasis, Joint contracture of the hand, Pathologic fracture, Splenomegaly, Hep...	OMIM:263700
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Potocki-Shaffer Syndrome	Anemia, Delayed puberty, Decreased skull ossification	ORPHA:52022
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Pancytopenia, Splenomegaly, Hypertriglyceridemia, Anemia	OMIM:618398
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, Delayed puberty	ORPHA:2598
Fetal Cytomegalovirus Syndrome	Hepatitis, Intrauterine growth retardation, Petechiae, Splenomegaly, Hepatomegaly, Thrombocytopen...	ORPHA:294
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Petechiae, Neutropenia, Thromb...	OMIM:616216
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Arthritis, Anemia, Growth delay	OMIM:607115
Mixed-Type Autoimmune Hemolytic Anemia	Pallor, Autoimmune hemolytic anemia	ORPHA:90036
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hem...	OMIM:608184
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Common Variable Immunodeficiency	Lymphopenia, Hemolytic anemia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmun...	ORPHA:1572
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612924
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Amme Complex	Joint hypermobility, Intrauterine growth retardation, Elliptocytosis	OMIM:300194
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Autosomal Dominant Hypophosphatemic Rickets	Growth delay, Iron deficiency anemia, Rickets, Osteomalacia	ORPHA:89937
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Growth delay, Polycythemia	OMIM:250800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612925
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly	ORPHA:28
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Hypothyroidism, Congenital, Nongoitrous, 6	Anemia, Dry skin, Growth delay	OMIM:614450
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Extramedullary hematopoiesis, Cranial hyperostosis, Osteomyelitis, Hepa...	OMIM:259710
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Recurrent fractures, Short stature, Splenomegaly	ORPHA:417
Hemochromatosis, Type 3	Lymphopenia, Cirrhosis, Neutropenia, Arthritis, Anemia, Purpura	OMIM:604250
Tufted Angioma	Anemia, Purpura, Petechiae, Thrombocytopenia	ORPHA:1063
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Joint stiffness, Postnatal growth retardation, Splenomegaly, Joint hyper...	OMIM:620210
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Osteopenia, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukem...	OMIM:614742
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Lesch-Nyhan Syndrome	Anemia, Gout	ORPHA:510
Tempi Syndrome	Ascites, Increased hematocrit, Facial erythema, Polycythemia	ORPHA:284227
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Abnormal thymus morphology, Pure red cell aplasia, Hemolytic anemia	ORPHA:589
Rothmund-Thomson Syndrome, Type 3	Anemia, Osteopenia, Severe short stature, Anisopoikilocytosis	OMIM:615789
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Osteopetrosis, Autosomal Recessive 9	Cortical sclerosis, Pathologic fracture, Postnatal growth retardation, Osteopetrosis, Anemia, Inc...	OMIM:620366
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Growth delay, Premature skin wrinkling, Elbow flexion contracture, Intrauterin...	OMIM:618947
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, Short stature	OMIM:614480
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay	OMIM:619164
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen...	OMIM:226990
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof...	OMIM:231095
Congenital Erythropoietic Porphyria	Osteopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Throm...	ORPHA:79277
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia, Anemic pallor, Growth delay	ORPHA:329971
Tyrosinemia Type 1	Hepatomegaly, Rickets of the lower limbs, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Intrauterine growth retardation, Splenomegaly, Thrombocytopenia...	OMIM:610333
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Short ...	OMIM:619151
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Short st...	OMIM:616050
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Decreased circulating cortisol level, Intrauterine growth retardation, Cardiomegaly	OMIM:618838
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Absent circulating B cells, Generalized lymphadenopathy, Hypertriglyc...	OMIM:620282
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Short stature	OMIM:617243
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Thrombocytopenia, Stillbir...	ORPHA:85212
Oslam Syndrome	Anemia, Radioulnar synostosis	OMIM:165660
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Intrauterine growth retardation, Cardiomegaly	OMIM:620135
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Short stature, Growth delay	OMIM:612563
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Pearson Marrow-Pancreas Syndrome	Erythema, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Pallor, Hepatome...	OMIM:557000
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Short stature, Hepatomegaly, Jaundice, Reduced bone mineral density	ORPHA:172
Maternal Uniparental Disomy Of Chromosome 4	Hypocholesterolemia, Postnatal growth retardation, Abnormal erythrocyte morphology, Acanthocytosi...	ORPHA:96180
Congenital Rubella Syndrome	Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, ...	ORPHA:290
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Pancytopenia, Intrauterine growth retardation	OMIM:600546
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Ascites	OMIM:603278
Hemochromatosis, Type 4	Hepatic steatosis, Hepatomegaly, Cirrhosis, Osteoarthritis, Anemia	OMIM:606069
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Bone cyst	ORPHA:2668
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis...	OMIM:615438
Diffuse Neonatal Hemangiomatosis	Anemia, Hepatomegaly, Ascites, Thrombocytopenia	ORPHA:2123
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:618495
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Intrauterine growth retardation, Gout, Neutropenia, Anemia, Short stature	OMIM:617056
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Tracheomalacia, Persistence of hemoglobin F, Macrocytic anemia...	OMIM:612561
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly, Increased bone mineral density, Sh...	ORPHA:2204
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:263400
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Anemia	ORPHA:2325
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Pallor, Petechiae, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemi...	ORPHA:90051
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Aggressive Systemic Mastocytosis	Ascites, Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Incr...	ORPHA:98850
Catastrophic Antiphospholipid Syndrome	Skin ulcer, Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Arthritis, Throm...	ORPHA:464343
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Growth delay	ORPHA:289916
Nephronophthisis 9	Anemia, Postnatal growth retardation	OMIM:613824
Cinca Syndrome	Growth delay, Leukocytosis, Splenomegaly, Reduced bone mineral density, Hepatomegaly, Lymphadenop...	ORPHA:1451
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Abetalipoproteinemia	Hepatic fibrosis, Osteopenia, Hypocholesterolemia, Acanthocytosis, Hepatic steatosis, Reticulocyt...	ORPHA:14
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy...	ORPHA:457077
Classic Mycosis Fungoides	Erythema, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He...	ORPHA:2584
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Pyoderma g...	OMIM:150550
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Short stature	OMIM:231000
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Episodic hemolytic anemia, Short stature, Craniosynostosis, Recurrent fractures,...	ORPHA:251004
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Petechiae, Splenomegaly,...	OMIM:619463
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Petechiae, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymp...	ORPHA:158029
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ...	OMIM:257200
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Osteopetrosis, Short stat...	OMIM:259730
Familial Benign Copper Deficiency	Anemia, Short stature	ORPHA:1551
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Osteomalacia, Postnatal growth reta...	ORPHA:289157
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Anemia, Limitation of joint mobility, Short stature	ORPHA:1192
Anti-Glomerular Basement Membrane Disease	Anemia, Purpura, Arthritis	ORPHA:375
Immunodeficiency 23	Erythema, Lymphopenia, Joint hypermobility, Eosinophilia, Neutropenia, Hemolytic anemia	OMIM:615816
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Rickets, Extramedullary hematopoiesis, Cholestasis, Postnatal growth retard...	ORPHA:79303
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Skin ulce...	ORPHA:443811
Waldenström Macroglobulinemia	Normocytic anemia, Pallor, Splenomegaly, Hepatomegaly, Lymphadenopathy, Leukemia, Abnormality of ...	ORPHA:33226
Gaucher Disease Type 1	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Cirrhosis, Hepatomegaly, Osteopenia, Cholelithia...	ORPHA:77259
Pearson Syndrome	Bone marrow hypocellularity, Growth delay, Exocrine pancreatic insufficiency, Postnatal growth re...	ORPHA:699
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Hypophosphatasia	Anemia, Craniosynostosis, Short stature, Recurrent fractures	ORPHA:436
Osteopetrosis, Autosomal Recessive 1	Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Hepatomegaly, Femur fracture, Ost...	OMIM:259700
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Flexion contr...	OMIM:619183
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Orthostatic Hypotension 2	Anemia	OMIM:618182
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Growth delay, Splenomegaly	ORPHA:79238
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat...	OMIM:278000
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hypertriglyceridemia, H...	OMIM:300635
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
C1Q Deficiency 2	Anemia, Facial erythema, Arthritis	OMIM:620321
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Acute Bilirubin Encephalopathy	Prolonged neonatal jaundice, Hemolytic anemia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Prolonged neonatal jaundice, Hemolytic anemia	ORPHA:529808
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Combined Oxidative Phosphorylation Deficiency 40	Anemia, Decreased circulating cortisol level, Intrauterine growth retardation, Neonatal death	OMIM:618835
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Flexion contracture, Short stature, HbH hemoglobin	ORPHA:98791
Combined Oxidative Phosphorylation Deficiency 42	Anemia, Decreased circulating cortisol level, Intrauterine growth retardation, Neonatal death	OMIM:618839
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Omenn Syndrome	Dry skin, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia,...	ORPHA:39041
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episo...	OMIM:211600
Congenital Disorder Of Glycosylation, Type Ik	Intrauterine growth retardation, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture	OMIM:608540
Prolidase Deficiency	Skin ulcer, Petechiae, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, Thrombocytopenia,...	OMIM:170100
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Muckle-Wells Syndrome	Camptodactyly of finger, Splenomegaly, Hepatomegaly, Delayed puberty, Arthritis, Anemia, Short st...	ORPHA:575
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, Leukemia, ...	OMIM:600901
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Petechiae, Lymphadenopathy, Neutrop...	ORPHA:79477
Albers-Schönberg Osteopetrosis	Mandibular osteomyelitis, Osteomyelitis, Abnormal leukocyte morphology, Generalized osteosclerosi...	ORPHA:53
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis	ORPHA:3318
Gaucher Disease, Type I	Pathologic fracture, Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, A...	OMIM:230800
Wilson Disease	Hepatitis, Pathologic fracture, Acute hepatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly, C...	ORPHA:905
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Skin ulcer, Microcytic anemia, Lymphopenia, Hyper...	ORPHA:906
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocyto...	ORPHA:93552
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Anemia, Short stature	OMIM:226670
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Intrauterine growth retardation, Anemia, Reticulocytop...	OMIM:227645
Coach Syndrome 3	Anemia, Portal fibrosis	OMIM:619113
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, Lymphadenopathy, N...	ORPHA:158061
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Osteoporosis, Pallor	ORPHA:2786
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia, Anemia, Abnorm...	ORPHA:54251
Atelis Syndrome 1	Anemia, Dry skin, Leukopenia, Thrombocytopenia	OMIM:620184
Felty Syndrome	Bone marrow hypocellularity, Limitation of joint mobility, Abnormal lymphocyte morphology, Spleno...	ORPHA:47612
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Neuroblastoma	Pathologic fracture, Anemic pallor, Lymphadenopathy, Thrombocytopenia, Anemia, Abdominal mass	ORPHA:635
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia	ORPHA:27
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Irregular ossificat...	OMIM:260400
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Dermotrichic Syndrome	Anemia, Proportionate short stature	ORPHA:99688
Rhabdoid Tumor	Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia	ORPHA:69077
Bone Marrow Failure Syndrome 5	Growth delay, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Short stature	OMIM:618165
Autosomal Recessive Malignant Osteopetrosis	Growth delay, Pallor, Splenomegaly, Hepatomegaly, Osteopetrosis, Lymphadenopathy, Anemia, Cranios...	ORPHA:667
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, Leukemia, ...	OMIM:227650
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Short stature	OMIM:620010
Hellp Syndrome	Decreased mean corpuscular hemoglobin concentration, Thrombocytopenia, Hemolytic anemia, Microang...	ORPHA:244242
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Short stature, Fused cervical vertebrae	ORPHA:2522
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Joint hypermobility, Short stature, Persistence of hemoglobin F	OMIM:617101
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Majeed Syndrome	Osteomyelitis, Leukocytosis, Splenomegaly, Increased susceptibility to fractures, Synovitis, Hypo...	ORPHA:77297
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Hypertriglyceridemia,...	OMIM:617591
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Severe postnatal growth r...	ORPHA:440713
X-Linked Agammaglobulinemia	Hepatitis, Skin ulcer, Osteomyelitis, Abnormality of the lymphatic system, Abnormality of the ton...	ORPHA:47
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Anemia	OMIM:617475
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Splenomegaly, Hypercholesterolemia, Acholic stools, Hepatomegaly, Jaundice, Shor...	OMIM:619868
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Osteoporo...	ORPHA:79301
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Celiac Disease, Susceptibility To, 1	Rickets, Postnatal growth retardation, Macrocytic anemia, Iron deficiency anemia, Delayed puberty...	OMIM:212750
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Growth delay, Persistence...	ORPHA:124
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticulocytopenia, Neutropen...	OMIM:275350
Immunodeficiency 54	Reduced natural killer cell count, Postnatal growth retardation, Intrauterine growth retardation,...	OMIM:609981
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Rickets, Hypocholesterolemia, Splenomegaly, Cirrh...	OMIM:607765
Aicardi-Goutieres Syndrome 7	Hepatitis, Pancytopenia, Intrauterine growth retardation, Splenomegaly, Hepatic steatosis, Hepato...	OMIM:615846
Hepatoerythropoietic Porphyria	Osteopenia, Erythroid hyperplasia, Splenomegaly, Osteoporosis, Hemolytic anemia, Osteolysis	ORPHA:95159
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Immunodeficiency, Common Variable, 12, With Autoimmunity	Pyoderma gangrenosum, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Proteus Syndrome	Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex, Calvarial hyperosto...	OMIM:176920
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Arthritis, Lymphadenopathy	OMIM:611762
American Trypanosomiasis	Hepatomegaly, Pallor, Splenomegaly, Lymphadenopathy	ORPHA:3386
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti...	OMIM:619802
Lathosterolosis	Intrahepatic cholestasis, Intrauterine growth retardation, Abnormal platelet morphology, Thromboc...	ORPHA:46059
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Intrauterine growth r...	OMIM:606003
Bone Dysplasia, Lethal Holmgren Type	Rhizomelia, Redundant neck skin, Joint hypermobility, Hepatomegaly, Anemia, Severe short-limb dwa...	ORPHA:1842
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Rhizomelic arm shortening, Lymphopenia, Leukopenia, Dry skin, Reticu...	ORPHA:508542
Tularemia	Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat...	ORPHA:3392
Pseudo-Torch Syndrome 3	Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia	OMIM:618886
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Intrauterine growth retardation, Excessive wrinkled skin, Abnormal l...	ORPHA:3322
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Anemia, Hepatomegaly, Pallor	OMIM:246450
Stormorken Syndrome	Howell-Jolly bodies, Short stature, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Anisopoikilocytosis, Osteoporosis, Bilobate gallbladder	OMIM:607330
Osteopetrosis, Autosomal Recessive 5	Growth delay, Stillbirth, Extramedullary hematopoiesis, Cranial hyperostosis, Ascites, Hepatosple...	OMIM:259720
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia	OMIM:620365
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Immunodeficiency 87 And Autoimmunity	Growth delay, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Ascites, Cervical lymphadenopath...	OMIM:619573
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Anemia, Mediastinal lymph...	ORPHA:83469
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity, Growth delay, Radial dysplasia	OMIM:617244
Congenital Disorder Of Glycosylation, Type Ih	Cholestasis, Ascites, Intrauterine growth retardation, Neonatal death, Hepatomegaly, Camptodactyl...	OMIM:608104
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, Leukocytosis, Pallor, Lipid accumulation in hepatocytes, Hepatomegaly, Thrombocytosis...	ORPHA:20
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Leukocytosis, Peritonitis, Splenic abscess, Throm...	ORPHA:810
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Distal Renal Tubular Acidosis	Rickets, Growth delay, Osteomalacia, Hemolytic anemia, Increased susceptibility to fractures, Sho...	ORPHA:18
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Erythema, Cholelithiasis, Cirrhosis	ORPHA:79278
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leu...	ORPHA:3260
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Splenomegaly, Lipogranulomatosis, Osteolytic defects of t...	OMIM:228000
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Petechiae, Ecchymosis, Hypertriglyceri...	ORPHA:540
Paroxysmal Nocturnal Hemoglobinuria	Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Abnormal erythrocyte enzyme con...	ORPHA:447
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascites, Sideroblastic anemia, E...	OMIM:617021
Kenny-Caffey Syndrome, Type 1	Intrauterine growth retardation, Proportionate short stature, Decreased skull ossification, Birth...	OMIM:244460
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypercholesterolemia, Hypertriglyceridemia, ...	OMIM:612526
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Galactosemia Iii	Hepatomegaly, Jaundice, Splenomegaly	OMIM:230350
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Intrauterine growth retardation, Pallor, Neutropenia, Short stature,...	OMIM:609053
Kaposiform Lymphangiomatosis	Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Ecchymos...	ORPHA:464329
Bazex Syndrome	Anemia, Scaling skin	ORPHA:166113
Weismann-Netter Syndrome	Anemia, Abnormal cortical bone morphology, Severe short stature	ORPHA:3344
Hydatidiform Mole	Anemia	ORPHA:99927
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Infantile Sialic Acid Storage Disease	Osteopenia, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes	OMIM:269920
Spondylometaphyseal Dysplasia, Axial	Short stature, Rhizomelia, Disproportionate short-trunk short stature, Splenomegaly	OMIM:602271
Imerslund-Grasbeck Syndrome 2	Anemia, Megaloblastic anemia, Growth delay	OMIM:618882
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Adenohypophysitis	Decreased circulating cortisol level, Pallor, Normochromic anemia	ORPHA:95512
Gaucher Disease Type 2	Hepatomegaly, Flexion contracture, Splenomegaly	ORPHA:77260
Wilson Disease	Portal fibrosis, Osteomalacia, Ascites, Hepatic steatosis, Splenomegaly, Joint hypermobility, Hep...	OMIM:277900
Neutrophilic Dermatosis, Acute Febrile	Anemia, Erythema, Pyoderma gangrenosum	OMIM:608068
Diamond-Blackfan Anemia 10	Growth delay, Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia, Short stature	OMIM:613309
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Co...	ORPHA:83471
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Iron deficiency anemia, Steatorrhea, Os...	ORPHA:309031
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Arthritis, Hepatomegaly,...	OMIM:616100
Tangier Disease	Dry skin, Hepatosplenomegaly, Hypocholesterolemia, Chronic noninfectious lymphadenopathy, Left ve...	ORPHA:31150
Abcd Syndrome	Polycythemia, Neonatal death	OMIM:600501
Autoinflammation With Arthritis And Dyskeratosis	Dry skin, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Growth delay	OMIM:617388
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Postnatal growth retardation, Splenomegaly, Hepatomegaly, Cirrhosis, Hyperchole...	ORPHA:79240
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F	OMIM:619769
Glucagonoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Asci...	ORPHA:97280
Adult-Onset Still Disease	Erythema, Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Gener...	ORPHA:829
Sialidosis Type 2	Ascites, Splenomegaly, Hepatomegaly, Osteoporosis, Flexion contracture, Short stature	ORPHA:87876
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Growth delay, Cholestasis, Hepatic steatosis, Splenomegaly, He...	ORPHA:264580
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Petechiae, Ecchymosis, Lymphadenopathy, Neutropenia, Thro...	ORPHA:520
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Hyperlipidemia, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia,...	OMIM:615952
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Anemi...	OMIM:226300
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Hepatosplenomegaly, Joint stiffness, Mild postnatal growth retardation, Synov...	ORPHA:85408
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Osteopenia, Aplastic anemia, Growth delay, Dry skin, Pancytopenia, L...	OMIM:613990
Propionic Acidemia	Pancytopenia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Osteoporosis, Sh...	OMIM:606054
Caspase 8 Deficiency	Short stature, Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Short stature, Hepatomegaly, Growth delay	OMIM:261750
Hyperlysinemia, Type I	Anemia	OMIM:238700
Panhypophysitis	Decreased circulating cortisol level, Pallor, Normochromic anemia	ORPHA:95513
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Corticosteroid-Binding Globulin Deficiency	Anemia, Decreased circulating cortisol level	OMIM:611489
Hemochromatosis, Type 5	Anemia, Elevated hepatic iron concentration	OMIM:615517
Cronkhite-Canada Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:2930
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos...	OMIM:616828
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, Arthritis, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Hurler-Scheie Syndrome	Limitation of joint mobility, Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Short stature	ORPHA:93476
Gray Platelet Syndrome	Myelofibrosis, Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia	OMIM:139090
Glycogen Storage Disease Ixa1	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Growth delay	OMIM:306000
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Enlarged tonsils, Hepatomegaly, Osteopetro...	ORPHA:2785
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Cholesteryl Ester Storage Disease	Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice	ORPHA:75234
Eosinophilic Gastroenteritis	Ascites, Leukocytosis, Eosinophilia, Anemia, Steatorrhea	ORPHA:2070
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Hepatomegaly, Femur fracture, Osteopetrosis, A...	OMIM:612301
Recessive Dystrophic Epidermolysis Bullosa Inversa	Anemia, Growth delay	ORPHA:79409
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Arthritis, Lymphadenopathy	ORPHA:42642
3-Methylglutaconic Aciduria, Type V	Normochromic microcytic anemia, Intrauterine growth retardation, Postnatal growth retardation, Mi...	OMIM:610198
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Hype...	OMIM:267700
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Postnatal growth retardation, Pancytopenia, Abnormality of the...	ORPHA:2169
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Pallor, Thrombocytosis	ORPHA:134
Pituitary Apoplexy	Pallor, Increased circulating cortisol level, Normochromic anemia	ORPHA:95613
Myopathic Ehlers-Danlos Syndrome	Ankle flexion contracture, Joint contracture of the hand, Congenital contracture, Shoulder flexio...	ORPHA:536516
Drug-Induced Lupus Erythematosus	Anemia, Petechiae, Thrombocytopenia	ORPHA:231111
Roifman Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Splenomegaly, Hip contracture, Eos...	OMIM:616651
Neuraminidase Deficiency	Ascites, Epiphyseal stippling, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, ...	OMIM:256550
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hypertriglycer...	ORPHA:158048
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Mevalonic Aciduria	Short stature, Splenomegaly	ORPHA:29
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Aceruloplasminemia	Anemia	OMIM:604290
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Gaucher Disease, Perinatal Lethal	Arthrogryposis multiplex congenita, Ascites, Hepatosplenomegaly, Intrauterine growth retardation,...	OMIM:608013
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatomegaly, Lymph...	OMIM:603553
Solitary Rectal Ulcer Syndrome	Anemia	ORPHA:209964
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Psoriasiform lesion, Splenomegaly, Autoimmune hemolytic anemia, Generalized lymphad...	OMIM:614700
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Acanthocytosis, Fractures of the long bones	ORPHA:157850
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Castleman Disease	Myelofibrosis, Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, ...	ORPHA:160
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi...	ORPHA:169105
Glycogen Storage Disease Ixc	Postnatal growth retardation, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypert...	OMIM:613027
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Craniofacial osteosclerosis, Osteomyelitis, Hyperostosis, Arthritis, Anemia, Osteolysis	ORPHA:324964
Hypophosphatasia, Infantile	Unossified vertebral bodies, Disproportionate short-limb short stature, Increased susceptibility ...	OMIM:241500
Alg8-Cdg	Premature skin wrinkling, Ascites, Intrauterine growth retardation, Cutis laxa, Camptodactyly, Th...	ORPHA:79325
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Alkaptonuria	Joint stiffness, Black pigment gallstones, Increased susceptibility to fractures, Reduced bone mi...	ORPHA:56
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Anemia, Short stature, Joint hypermobility, Elliptocytosis	OMIM:300990
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly, Hepatic fibrosis	OMIM:616719
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:614520
Free Sialic Acid Storage Disease	Skin ulcer, Ascites, Splenomegaly, Hepatomegaly, Reduced bone mineral density	ORPHA:834
Fumarase Deficiency	Ascites, Intrahepatic cholestasis, Pallor, Polycythemia	OMIM:606812
Hatipoglu Immunodeficiency Syndrome	Dry skin, Pancytopenia, Intrauterine growth retardation, Petechiae, Proportionate short stature, ...	OMIM:620331
Nephronophthisis 4	Anemia, Growth delay	OMIM:606966
Sting-Associated Vasculopathy, Infantile-Onset	Erythema, Lymphopenia, Leukopenia, Joint stiffness, Follicular hyperplasia, Thrombocytosis, Anemi...	OMIM:615934
Congenital Factor Ii Deficiency	Anemia, Joint hemorrhage	ORPHA:325
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Short stature	ORPHA:2268
Recon Progeroid Syndrome	Growth delay, Dry skin, Joint hypermobility, Scaling skin, Thrombocytopenia, Anemia, Short stature	OMIM:620370
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Ex...	OMIM:300972
Nijmegen Breakage Syndrome	Acute leukemia, Autoimmune hemolytic anemia, Thrombocytopenia, Short stature, Hemolytic anemia	ORPHA:647
Sézary Syndrome	Dry skin, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:3162
Systemic Lupus Erythematosus	Leukopenia, Lymphadenopathy, Arthritis, Thrombocytopenia, Hemolytic anemia	ORPHA:536
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased susceptibility to fractures, Hepatomegaly, Delayed puberty,...	ORPHA:77261
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Immunodeficiency 10	Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega...	OMIM:612783
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Anemic pa...	OMIM:227646
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Sheehan Syndrome	Dry skin, Pallor, Normochromic anemia, Decreased circulating cortisol level	ORPHA:91355
Infection-Related Hemolytic Uremic Syndrome	Pallor, Leukocytosis, Pancreatitis, Thrombocytopenia, Septic arthritis, Hemolytic anemia	ORPHA:544482
Hemochromatosis, Type 2A	Hepatomegaly, Cirrhosis, Splenomegaly, Arthritis	OMIM:602390
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor, Pancreatic islet-cell hyperplasia	ORPHA:276608
Lysinuric Protein Intolerance	Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Cutis laxa, Pancreatitis, Thrombocytope...	OMIM:222700
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop...	OMIM:610377
Mirage Syndrome	Radial club hand, Lymphopenia, Leukopenia, Intrauterine growth retardation, Petechiae, Short stat...	OMIM:617053
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Immunodeficiency 36 With Lymphoproliferation	Growth delay, Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of tran...	OMIM:616005
Camurati-Engelmann Disease	Bone marrow hypocellularity, Sclerosis of skull base, Cortical thickening of long bone diaphyses,...	OMIM:131300
Relapsing Fever	Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, Jaundice	ORPHA:91547
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Osteolysis	ORPHA:391
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Hepatocellular carcinoma	OMIM:613490
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Leukemia, Pure red cell a...	ORPHA:99867
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Ascites, Hepatospl...	ORPHA:79124
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia	ORPHA:276575
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Radioulnar synostosis, Neutropenia,...	OMIM:614900
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pallor, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Hepatomegaly	OMIM:277400
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den...	OMIM:214500
Congenital Syphilis	Periostitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Palmoplantar scaling skin, Intraut...	ORPHA:499009
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in pre...	OMIM:613179
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor	ORPHA:276556
Optic Atrophy 1	Pallor	OMIM:165500
Combined Oxidative Phosphorylation Deficiency 14	Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra...	OMIM:614946
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Growth delay, Intrauterine growth retardation, Splenomegaly, Osteopetrosis, Hepatomegaly, Short s...	OMIM:618541
Diffuse Alveolar Hemorrhage	Anemia, Leukocytosis, Thrombocytopenia	ORPHA:90060
Pachydermoperiostosis	Limitation of joint mobility, Osteomyelitis, Abnormal cortical bone morphology, Splenomegaly, Hep...	ORPHA:2796
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Arteriosclerosis, Severe Juvenile	Anemia, Delayed puberty, Short stature	OMIM:208060
Fanconi Anemia, Complementation Group S	Anemia, Short stature	OMIM:617883
Non-Functioning Pituitary Adenoma	Pallor, Anemia of inadequate production	ORPHA:91349
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bone marrow hypocellularity, Pathologic fracture, Postnatal growth retardation, Intra...	OMIM:612199
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Lymphadenitis, Cholestasis, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphaden...	OMIM:615895
Hyperparathyroidism, Neonatal Severe	Anemia, Hepatomegaly, Recurrent fractures, Splenomegaly	OMIM:239200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor	ORPHA:276580
Fanconi Anemia, Complementation Group P	Anemia, Pancytopenia, Short stature, Growth delay	OMIM:613951
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Severe Hemophilia A	Limitation of joint mobility, Synovitis, Anemia, Limb joint contracture, Joint hemorrhage	ORPHA:169802
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Nephronophthisis 1	Anemia, Growth delay	OMIM:256100
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Osteomalacia, Hepatosplenomegaly, Hypophosphatemic rickets, Osteoarthritis, Short stature	OMIM:307800
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Cholestasis, Elevate...	OMIM:615486
Congenital Disorder Of Glycosylation, Type Iil	Cholestasis, Dry skin, Pancytopenia, Intrauterine growth retardation, Splenomegaly, Cirrhosis, Th...	OMIM:614576
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Immunodeficiency 31C	Osteopenia, Growth delay, Lymphopenia, Osteomyelitis, Autoimmune hemolytic anemia, Splenomegaly, ...	OMIM:614162
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:613845
Hypermanganesemia With Dystonia 1	Hepatomegaly, Cirrhosis, Polycythemia	OMIM:613280
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymphopenia, Abnormal lymphatic vessel...	ORPHA:90362
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Cryoglobulinemic Vasculitis	Mediastinal lymphadenopathy, Skin ulcer, Abnormality of the liver, Petechiae, Splenomegaly, Arthr...	ORPHA:91138
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Pallor	ORPHA:324575
Gaucher Disease, Type Ii	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:230900
Poems Syndrome	Visceromegaly, Polycythemia, Sclerosis of hand bone, Ascites, Sclerosis of foot bone, Sclerosis o...	ORPHA:2905
Lead Poisoning	Cranial hyperostosis, Imbalanced hemoglobin synthesis, Delayed puberty, Abnormal T cell morpholog...	ORPHA:330015
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Anemia, Growth delay, Hypochromic microcytic anemia	OMIM:619147
Nephronophthisis 11	Anemia, Hepatic fibrosis, Growth delay	OMIM:613550
Mccune-Albright Syndrome	Bone marrow hypocellularity, Aneurysmal bone cyst, Hepatitis, Increased circulating cortisol leve...	ORPHA:562
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem...	OMIM:620430
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, Reduced bone mineral density, Abnormality of the pancreas	ORPHA:935
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Growth delay, Cholestasis, Ascites, Pancytopenia, Intrauterine growth retard...	OMIM:613658
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Skin ulcer, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopeni...	OMIM:615688
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia	OMIM:255125
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Hepatitis, Intrauterine growth retardation, Leukocytosis, Autoimmune hemolytic anem...	OMIM:620565
Sandifer Syndrome	Anemia	ORPHA:71272
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Joint stiffness, Abnormal hemoglobin, Anemia, Flexion contracture, Short stature	ORPHA:847
Chronic Granulomatous Disease	Skin ulcer, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, ...	ORPHA:379
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona...	OMIM:619377
Infantile Systemic Hyalinosis	Severe short stature, Osteopenia, Skin ulcer, Aplasia/Hypoplasia of the thymus, Osteomalacia, Cam...	ORPHA:2176
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Osteomyelitis, Splenomegaly, Neutrophilia, Hepatomegaly, Osteolysis, Fus...	OMIM:612852
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Growth delay, Splenomegaly	ORPHA:2414
Cyclic Vomiting Syndrome	Pallor, Growth delay	OMIM:500007
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Anemia, Flexion contracture, Growth delay	OMIM:226600
Attrv122I Amyloidosis	Anemia, Left ventricular hypertrophy, Cardiomegaly	ORPHA:85451
Multiple Myeloma	Osteopenia, Pathologic fracture, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:29073
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Dry skin, Intrauterine growth retardation, Postnatal gr...	OMIM:617827
Stiff-Person Syndrome	Anemia	OMIM:184850
Polyendocrine-Polyneuropathy Syndrome	Short stature, Elevated hemoglobin A1c, Postnatal growth retardation	OMIM:616113
Aicardi-Goutieres Syndrome 1	Erythema, Petechiae, Splenomegaly, Hepatomegaly, Short stature, Thrombocytopenia, Prolonged neona...	OMIM:225750
Cartilage-Hair Hypoplasia	Neonatal short-limb short stature, Absent pubertal growth spurt, Lymphopenia, Limited elbow exten...	OMIM:250250
Tangier Disease	Dry skin, Splenomegaly, Left ventricular hypertrophy, Hypertriglyceridemia, Hepatomegaly	OMIM:205400
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Jaundice, Congenital hypoplastic anemia, Anemia of inadequate production	OMIM:105600
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Short sta...	OMIM:601847
Congenital Enterovirus Infection	Fetal ascites, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, ...	ORPHA:292
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropeni...	OMIM:617303
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Immunodeficiency 25	Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia	OMIM:610163
Autosomal Dominant Kenny-Caffey Syndrome	Growth delay, Postnatal growth retardation, Intrauterine growth retardation, Cortical thickening ...	ORPHA:93325
Pseudo-Torch Syndrome 1	Petechiae, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice	OMIM:251290
Q Fever	Hepatitis, Osteomyelitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystit...	ORPHA:781
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Von Hippel-Lindau Disease	Polycythemia, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts, Neoplasm of the pancreas	ORPHA:892
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Postnatal growth retardation, Hepatomegaly,...	OMIM:207800
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th...	OMIM:612541
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Whipple Disease	Splenomegaly, Hepatomegaly, Arthritis, Anemia, Mediastinal lymphadenopathy	ORPHA:3452
Livedoid Vasculopathy	Polycythemia, Skin ulcer, Macular purpura, Pancytopenia, Leukocytosis, Ecchymosis, Anemia	ORPHA:542643
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:251110
Dyskeratosis Congenita	Bone marrow hypocellularity, Coarse metaphyseal trabecularization, Skin ulcer, Intrauterine growt...	ORPHA:1775
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Intrauterine growth retardation, Postnatal growth retard...	OMIM:615190
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia, Short st...	OMIM:277380
Immunodeficiency 22	Anemia, Ascites, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia	OMIM:615758
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Shwachman-Diamond Syndrome	Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Neutropeni...	ORPHA:811
Kenny-Caffey Syndrome, Type 2	Anemia, Thickened cortex of long bones, Increased bone mineral density, Severe short stature	OMIM:127000
Alveolar Echinococcosis	Biliary cirrhosis, Abnormal mesentery morphology, Portal hypertension, Hepatic cysts, Eosinophili...	ORPHA:284
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3...	ORPHA:760
Macrocephaly/Autism Syndrome	Lymphopenia, Splenomegaly, Joint hypermobility, Cutis laxa, Hepatomegaly	OMIM:605309
Mucopolysaccharidosis, Type Iiib	Joint stiffness, Splenomegaly, Cardiomegaly, Hepatomegaly, Dense calvaria	OMIM:252920
Neuroblastoma, Susceptibility To, 1	Anemia, Abdominal mass	OMIM:256700
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hypophosphatemic rickets, Pallor, Pancreatic islet-cell hyperplasia, Increased hepatic glycogen c...	ORPHA:263455
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve...	OMIM:102700
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Hepatitis, Osteomalacia, Osteomyelitis, Decreased proportion o...	OMIM:619381
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrhosis, Hepatocellu...	OMIM:251880
Dravet Syndrome	Limited knee extension, Pallor	ORPHA:33069
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Pancytopenia, Hypersplenism, Portal hypertension, Splenomegaly, Limited elbow extensio...	OMIM:613385
Rat-Bite Fever	Septic arthritis, Lymphadenitis, Abdominal aseptic abscess, Oligoarthritis, Pancreatitis, Scaling...	ORPHA:31205
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia	OMIM:251100
Sarcoidosis	Abnormal lymph node morphology, Leukopenia, Portal hypertension, Bone cyst, Increased T cell coun...	ORPHA:797
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Intrauterine growth retardation, Leukocytosis, Autoimmune hemolytic anemia, Interfac...	OMIM:243150
Autoinflammatory Disease, Systemic, With Vasculitis	Erythema, Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Intrauterine growth retardation, Leu...	OMIM:620376
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Hepatosplenomegaly, Petechiae, Hepatomegaly, Lymphadenopathy, Ane...	ORPHA:85450
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Steatorrhea	OMIM:235555
Aredyld Syndrome	Craniofacial hyperostosis, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Short sta...	ORPHA:1133
Sweet Syndrome	Leukocytosis, Pyoderma gangrenosum, Chronic lymphatic leukemia, Skin vesicle, Acute myeloid leuke...	ORPHA:3243
Glycogen Storage Disease Ib	Xanthelasma, Hyperlipidemia, Splenomegaly, Gout, Pancreatitis, Delayed puberty, Neutropenia, Panc...	OMIM:232220
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Degcags Syndrome	Osteopenia, Tracheomalacia, Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Pallor, In...	OMIM:619488
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy, Arthritis, Hepatomegaly, Juvenile rheumatoid arthritis	ORPHA:85414
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Autoim...	ORPHA:572
Incontinentia Pigmenti	Erythema, Leukocytosis, Pallor, Eosinophilia, Short stature	OMIM:308300
Congenital Heart Block	Intrauterine growth retardation, Pallor	ORPHA:60041
Tyrosinemia, Type I	Ascites, Hypophosphatemic rickets, Splenomegaly, Pancreatic islet-cell hyperplasia, Hepatomegaly,...	OMIM:276700
Kabuki Syndrome 1	Growth delay, Postnatal growth retardation, Joint hypermobility, Short stature, Autoimmune thromb...	OMIM:147920
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Postnatal growth retardation, Hypochromic microcytic anemia, Reduced alpha/beta s...	OMIM:301040
Pediatric-Onset Graves Disease	Intrauterine growth retardation, Splenomegaly, Thrombocytopenia, Neutropenia in presence of anti-...	ORPHA:525731
Hemochromatosis, Type 1	Ascites, Splenomegaly, Cardiomegaly, Cirrhosis, Hepatomegaly, Osteoporosis, Hepatocellular carcinoma	OMIM:235200
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Joint stiffness, Severe intrauterine growth retardation, Anemia, Flexion c...	OMIM:609069
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Leukopenia, Intrauterine growth retardation, Thrombocytopenia, Anemi...	OMIM:603467
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perioral erythema, Dry skin, Splenomegaly, Hepatomegaly, Short stature, Perianal erythema	OMIM:201100
Dyskeratosis Congenita, Digenic	Anemia, Intrauterine growth retardation, Short stature	OMIM:620040
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Joint stiffness, Splenomegaly, Dense calvaria	OMIM:252900
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
Carney Triad	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Ascites	ORPHA:139411
Gm1-Gangliosidosis, Type I	Severe short stature, Joint stiffness, Intrauterine growth retardation, Splenomegaly, Hepatomegal...	OMIM:230500
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Ascites, Hepatosplenomeg...	ORPHA:84081
Gaucher Disease	Pancytopenia, Cirrhosis, Hepatomegaly, Abnormal bone structure, Osteopenia, Cholelithiasis, Osteo...	ORPHA:355
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intrauterine growth retardation, Splenomegaly, Abnormally ossified vertebrae	ORPHA:3035
Amoebiasis Due To Entamoeba Histolytica	Anemia, Leukocytosis, Liver abscess	ORPHA:67
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen...	OMIM:600785
Poikiloderma With Neutropenia	Joint stiffness, Leukopenia, Splenomegaly, Joint hypermobility, Neutropenia, Short stature, Growt...	OMIM:604173
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Xanthelasma, Hepatic steatosis, Hepatomegaly, Chronic neutropenia, Osteopenia, Increased suscepti...	ORPHA:79259
Kikuchi-Fujimoto Disease	Erythema, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Hep...	ORPHA:50918
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocyto...	ORPHA:391487
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Cholelithiasis, Pathologic fracture, Hypersplenism, Hyperlipidemia, Splenomegaly, Hep...	ORPHA:77293
Lymphatic Malformation 7	Anemia, Ascites	OMIM:617300
Opsismodysplasia	Severe short stature, Joint stiffness, Splenomegaly, Hepatomegaly, Abnormally ossified vertebrae	ORPHA:2746
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Fetal ascites, Arthrogryposis multiplex congenita, Cholestasis, Dry skin, Hepatosplenom...	OMIM:619503
Hurler-Scheie Syndrome	Growth delay, Camptodactyly of finger, Joint stiffness, Contracture of the distal interphalangeal...	OMIM:607015
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice, ...	OMIM:618641
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Thin bony cortex, Hepatomegaly	OMIM:230600
Prolidase Deficiency	Erythema, Skin ulcer, Dry skin, Splenomegaly, Hepatomegaly, Reduced bone mineral density	ORPHA:742
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ...	OMIM:613812
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Exocrine pancreatic insufficiency, ...	OMIM:620005
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Bile Acid Conjugation Defect 1	Hepatomegaly, Jaundice, Rickets	OMIM:619232
Brucellosis	Hip osteoarthritis, Septic arthritis, Sacroiliac arthritis, Osteomyelitis, Hypersplenism, Leukope...	ORPHA:1304
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Erythema, Splenomegaly	ORPHA:33577
Choreoacanthocytosis	Acanthocytosis, Splenomegaly, Abnormal erythrocyte enzyme concentration or activity, Arthritis, H...	ORPHA:2388
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto...	OMIM:615607
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B...	OMIM:257220
Goodpasture Syndrome	Anemia, Pallor	OMIM:233450
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Scheie Syndrome	Hepatomegaly, Joint stiffness, Limitation of joint mobility, Splenomegaly	ORPHA:93474
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Polycythemia, Micronodular cirrhosis, Abnormality of the liver, Portal hypertension, Splenomegaly...	ORPHA:309854
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Dry skin, Portal hypertension, Splenomegaly, Sclerosing cholangiti...	OMIM:607626
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Gastrointestinal Stromal Tumor	Anemia, Abnormality of the liver	ORPHA:44890
Syndromic Diarrhea	Hepatic fibrosis, Lymphopenia, Dry skin, Abnormality of the liver, Intrauterine growth retardatio...	ORPHA:84064
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly	OMIM:207750
Camurati-Engelmann Disease	Limitation of joint mobility, Craniofacial osteosclerosis, Leukopenia, Hyperostosis, Splenomegaly...	ORPHA:1328
Hypophosphatemic Rickets, Autosomal Dominant	Short stature, Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Osteomyelitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenop...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Osteomyelitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenop...	OMIM:233710
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Ascites, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Microvesicular hepatic...	ORPHA:275761
Erdheim-Chester Disease	Osteomyelitis, Xanthelasma, Anemia, Increased bone mineral density, Osteolysis, Retroperitoneal f...	ORPHA:35687
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Osteomyelitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenop...	OMIM:233690
Blau Syndrome	Erythema, Limitation of joint mobility, Skin ulcer, Camptodactyly of finger, Dry skin, Abnormalit...	ORPHA:90340
Cogan Syndrome	Anemia, Leukocytosis, Thrombocytosis	ORPHA:1467
Agammaglobulinemia, X-Linked	Septic arthritis, Lymph node hypoplasia, Neutropenia, B lymphocytopenia, Anemia, Enteroviral hepa...	OMIM:300755
Juvenile Polyposis Syndrome	Anemia	OMIM:174900
Budd-Chiari Syndrome	Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Toxic Epidermal Necrolysis	Erythema, Skin ulcer, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:537
Familial Tumoral Calcinosis	Hepatomegaly, Erythema, Hyperostosis, Splenomegaly	ORPHA:53715
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Arthritis, Neutro...	OMIM:260920
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly	OMIM:231005
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hepatitis, Osteomyelitis, Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemia, Lymp...	ORPHA:37042
Histiocytosis-Lymphadenopathy Plus Syndrome	Flexion contracture of toe, Pancreatic hypoplasia, Camptodactyly of finger, Cervical lymphadenopa...	OMIM:602782
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Growth delay,...	OMIM:600081
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Anemia, Gout	OMIM:174000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Hepatosplenomegaly, Intrauterine growth retardation, Hepatic steatosis, Hepatomegaly...	ORPHA:247598
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Skin ulcer, Abnormality of the spleen, Hepatosplenomegaly, Panc...	ORPHA:2072
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Thin ...	OMIM:241530
Dermatosparaxis Ehlers-Danlos Syndrome	Severe short stature, Osteopenia, Rickets, Osteomalacia, Joint stiffness, Excessive wrinkled skin...	ORPHA:1901
Hyperlipoproteinemia, Type I	Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Splenomegaly, Hypercholesterolemia, Jaundic...	OMIM:238600
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra...	OMIM:300554
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Anemia	OMIM:620358
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Senior-Loken Syndrome 8	Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts	OMIM:616307
Fanconi-Bickel Syndrome	Osteopenia, Rickets, Abnormal hepatic glycogen storage, Increased hepatic glycogen content, Hyper...	ORPHA:2088
Autoimmune Hepatitis	Viral hepatitis, Ascites, Splenomegaly, Sclerosing cholangitis, Cirrhosis, Arthritis, Hepatocellu...	ORPHA:2137
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Disproportionate short-limb short stature, Splenomegaly, Joint h...	OMIM:602557
Rheumatic Fever	Erythema, Pallor, Arthritis	ORPHA:3099
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Anemia, Flexion contracture, Bone cyst, Osteolysis	ORPHA:3042
Stevens-Johnson Syndrome	Erythema, Pancreatitis, Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:36426
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Osteoporosis, Rickets	OMIM:560000
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Right ventricular hypertrophy, Splenomegaly	OMIM:616028
Hypophosphatasia, Adult	Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac...	OMIM:146300
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Osteopenia, Hepatitis, Pancreatic hypoplasia, Cholestasis, Intrauterine growth ...	OMIM:610199
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J...	OMIM:607625
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly, Postnatal growth retardation, Splenomeg...	ORPHA:1655
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Primary Hyperoxaluria Type 1	Anemia	ORPHA:93598
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Short stature, Bone cyst...	ORPHA:93160
Axial Osteomalacia	Increased bone mineral density, Polycystic liver disease, Osteomalacia	OMIM:109130
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Micronodular cirrhosis, Ascites, Splenomegaly, Thrombocytopenia, Hepatomegaly, Limb joint contrac...	OMIM:301072
Hypophosphatemic Bone Disease	Short stature, Rickets, Osteomalacia	OMIM:146350
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Pallor, Hepatic steatosis	ORPHA:348
Lipodystrophy, Congenital Generalized, Type 2	Hepatic steatosis, Splenomegaly, Cystic angiomatosis of bone, Cirrhosis, Hypertriglyceridemia, He...	OMIM:269700
Mucopolysaccharidosis Type 7	Hepatitis, Ascites, Joint stiffness, Epiphyseal stippling, Splenomegaly	ORPHA:584
Oculocerebrorenal Syndrome Of Lowe	Skin ulcer, Osteomalacia, Hyperaldosteronism, Joint stiffness, Joint hypermobility, Hypercholeste...	ORPHA:534
Renal Nutcracker Syndrome	Anemia	ORPHA:71273
Lysinuric Protein Intolerance	Osteopenia, Hemophagocytosis, Hepatic amyloidosis, Pathologic fracture, Leukopenia, Hepatosplenom...	ORPHA:470
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density, Short ...	ORPHA:157215
Cystinosis	Short stature, Delayed puberty, Portal hypertension, Rickets	ORPHA:213
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Growth delay, Camptodactyly of finger, Microcytic anemia, Elbow flexion contracture, Sp...	OMIM:256040
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Neonatal...	OMIM:263200
Myopathy, Mitochondrial, And Ataxia	Short stature, Pallor, Growth delay	OMIM:617675
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Cholestasis, Intrauterine growth retardation, Splenomegaly, Cirrhosis, Thromboc...	OMIM:222470
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Growth delay,...	OMIM:264700
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia	OMIM:175780
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Growth delay,...	OMIM:277440
Hypercholanemia, Familial 1	Steatorrhea, Rickets	OMIM:607748
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Pancreatic cysts, Polycythemia, Neoplasm of the pancreas	OMIM:193300
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Osteomyelitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Ly...	OMIM:306400
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Osteomalacia, Short stature, Recurrent fractures	OMIM:613388
Renal Tubular Acidosis, Proximal	Short stature, Rickets, Osteomalacia	OMIM:179830
Congenital Disorder Of Glycosylation, Type Iiw	Increased hepatic echogenicity, Microcytic anemia, Hepatic steatosis, Splenomegaly, Prolonged neo...	OMIM:619525
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Growth delay	OMIM:602722
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Hyperlipi...	ORPHA:567983
Fibrous Dysplasia Of Bone	Rickets, Increased circulating cortisol level, Osteomalacia, Cortical irregularity, Pathologic fr...	ORPHA:249
Neutral Lipid Storage Disease With Myopathy	Chronic pancreatitis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, Short ...	OMIM:610717
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,...	OMIM:300009
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hepatitis, Intrauterine growth retardation, Autoimmune hemolytic anemia, Hypo...	ORPHA:436252
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Peritonitis, Arthritis, Neutrophilia, Hepatomegaly	OMIM:249100
Prolactinoma	Osteoporosis, Osteopenia, Delayed puberty, Pallor	ORPHA:2965
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hypertriglyceridemia, Hepatomegaly	OMIM:615947
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Steatorrhea, Ascites, Xanthelasma, Portal hyperte...	ORPHA:186
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P...	ORPHA:731
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Intrauterine growth retardation, Acute mye...	OMIM:305000
Neu-Laxova Syndrome	Osteopenia, Rickets, Osteomalacia, Intrauterine growth retardation, Lack of skin elasticity, Oste...	ORPHA:2671
Isolated Biliary Atresia	Periportal fibrosis, Cholestasis, Atretic gallbladder, Xanthelasma, Splenomegaly, Prolonged neona...	ORPHA:30391
Hardikar Syndrome	Hepatic fibrosis, Portal inflammation, Intrahepatic bile duct cysts, Cholestasis, Hepatosplenomeg...	OMIM:301068
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Erythema, Leukocytosis, Splenomegaly, Peritonitis, Lymphadenopathy, Arthritis	ORPHA:32960
Familial Mediterranean Fever	Erythema, Ascites, Leukocytosis, Splenomegaly, Peritonitis, Pancreatitis, Lymphadenopathy, Arthri...	ORPHA:342
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Splenomegaly, Pancreatitis, Hepatomegaly, Vacuolated lymphocytes	ORPHA:565612
Fanconi Renotubular Syndrome 3	Short stature, Rickets, Growth delay	OMIM:615605
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Anemia, Hepatic arteriovenous malformation	OMIM:175050
Fanconi-Bickel Syndrome	Intrahepatic cholestasis, Rickets, Osteomalacia, Postnatal growth retardation, Hepatomegaly	OMIM:227810
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Tay-Sachs Disease	Pallor	OMIM:272800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Rickets, Short stature	OMIM:616026
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Cranial hyperostosis	OMIM:612918
Fanconi Renotubular Syndrome 1	Short stature, Rickets, Osteomalacia	OMIM:134600
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Reynolds Syndrome	Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomegaly, Jaundice, Steatorrhea	OMIM:613471
Cystinosis, Nephropathic	Rickets, Growth delay, Exocrine pancreatic insufficiency, Hypophosphatemic rickets, Splenomegaly,...	OMIM:219800
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Osteopenia, Hepatitis, Cholestasis, Ascites, Hepatosplenomegaly...	ORPHA:171
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ...	ORPHA:289176
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Coronal...	ORPHA:2968
Liver Disease, Severe Congenital	Portal inflammation, Hepatic steatosis, Abnormal hepatic echogenicity, Hepatomegaly, Jaundice, In...	OMIM:619991
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Splenomegaly, Bone cyst, Generalized lymphadenopathy, Arthritis, Hepatomegaly, Medi...	OMIM:181000
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Rickets, Recurrent fractures	OMIM:268315
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Pallor	ORPHA:137675
Multiple Endocrine Neoplasia Type 2	Cervical lymphadenopathy, Neoplasm of the liver, Pallor, Joint hypermobility	ORPHA:653
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Dry skin, Splenomegaly	OMIM:612132
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Tsh-Secreting Pituitary Adenoma	Osteoporosis, Osteopenia, Delayed puberty, Pallor	ORPHA:91347
Esophageal Atresia	Laryngotracheomalacia, Pallor, Growth delay	ORPHA:1199
X-Linked Hypophosphatemia	Disproportionate short stature, Limitation of joint mobility, Rickets, Growth delay, Generalized ...	ORPHA:89936
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor...	ORPHA:774
Dent Disease	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,...	ORPHA:1652
Digeorge Syndrome	Cholelithiasis, Hepatic steatosis, Splenomegaly, Hypoplasia of the thymus, Thrombocytopenia, Abno...	OMIM:188400
Occipital Horn Syndrome	Synostosis of joints, Osteopenia, Rickets, Hepatitis, Osteomalacia, Cholestasis, Joint hypermobil...	ORPHA:198
Hypophosphatemic Rickets And Hyperparathyroidism	Short stature, Hypophosphatemic rickets, Rickets	OMIM:612089
Hypocalciuric Hypercalcemia, Familial, Type Iii	Pancreatitis, Osteomalacia	OMIM:600740
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Rickets, Camptodactyly of finger, Osteomalacia, Pathologic fractur...	OMIM:309000
Juvenile Polyposis Syndrome	Hepatic arteriovenous malformation, Anemia, Extrahepatic portal hypertension, Growth delay, Neopl...	ORPHA:2929
Telangiectasia, Hereditary Hemorrhagic, Type 2	Anemia, Cirrhosis, Polycythemia, Hepatic arteriovenous malformation	OMIM:600376
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Severe short stature, Osteopenia, Rickets, Osteomalacia, Intrauterine growth retardation, Osteopo...	ORPHA:2636
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Infantile Nephropathic Cystinosis	Rickets, Growth delay	ORPHA:411629
Telangiectasia, Hereditary Hemorrhagic, Type 1	Anemia, Cirrhosis, Polycythemia, Hepatic arteriovenous malformation	OMIM:187300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Growth delay, Increased susceptibility to fractures, Osteomalacia	ORPHA:3337
Familial Hypocalciuric Hypercalcemia	Pancreatitis, Osteomalacia	ORPHA:405
Generalized Arterial Calcification Of Infancy	Osteomalacia, Ascites, Hypophosphatemic rickets, Pancreatic calcification, Cardiomegaly, Hepatic ...	ORPHA:51608
Hypomagnesemia 3, Renal	Short stature, Rickets	OMIM:248250
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Cardiomegaly, Pallor	ORPHA:99125

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc20a1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc20a1.

No publications found that use IMPC mice or data for Slc20a1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Slc20a1^{tm55489(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Slc20a1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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