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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly, Pallor ORPHA:46532
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
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, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Growth delay, Erythroid hyperplasia, Short stature, Anemia, Splenomegaly, Jaundice,... OMIM:615631
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Growth delay, Anemia, Splenomegaly, Poikilocytosis, Decreased mean cor... OMIM:615234
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Hereditary Spherocytosis
Hepatomegaly, Growth delay, Anemia, Cholelithiasis, Gout, Splenomegaly, Pallor, Extramedullary he... ORPHA:822
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Short stature, Anemia, Splenomegaly, Reticulocytosis, Anemia... OMIM:613673
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Short stature, Splenomegaly ORPHA:66518
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Anemia, Congenital Dyserythropoietic, Type Ia
Mild postnatal growth retardation, Prolonged neonatal jaundice, Erythroid hyperplasia, Splenomega... OMIM:224120
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:616649
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Autoimmune Hemolytic Anemia, Cold Type
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... OMIM:109270
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Prolonged neonatal jaundice,... ORPHA:766
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Growth delay, Petechiae, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, R... OMIM:611490
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Jaundice ORPHA:33574
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Anemia, Abnormal hemoglobin, Decreased skull ossification, Thrombocytopenia ORPHA:3319
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Short stature, Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean cor... OMIM:611590
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hepatosplenomegaly, Hemolytic anemia, Ascites OMIM:600461
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Hemoglobin E Disease
Hypochromia, Intrauterine growth retardation, Hypochromic microcytic anemia, Increased red blood ... ORPHA:2133
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, Folate-respons... OMIM:601775
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Intrauterine growth retardation, Stomatocytosis... ORPHA:71275
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia OMIM:314050
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Prolonged neonatal jaundice, Heinz bodies, Splenomegaly, Fava bean-induced hemolyti... OMIM:300908
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Microangiopathic hemolytic anemia, Hyperlipidemia, Purpura, Reticulocytosis, Thro... OMIM:235400
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:517
Hereditary Elliptocytosis
Congenital hemolytic anemia, Prolonged neonatal jaundice, Stomatocytosis, Cholelithiasis, Splenom... ORPHA:288
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Adenosine Triphosphatase Deficiency, Anemia Due To
Nonspherocytic hemolytic anemia OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells
Congenital hemolytic anemia OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain
Compensated hemolytic anemia OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane
Nonspherocytic hemolytic anemia OMIM:206300
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Arthritis, Splenomegaly, Abnormality of the liver, Hyp... OMIM:210250
X-Linked Sideroblastic Anemia
Pallor, Anemia, Splenomegaly ORPHA:75563
Beta-Thalassemia
Hepatomegaly, Hepatitis, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenomegaly, Reduced bone ... ORPHA:848
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Primary Myelofibrosis
Ecchymosis, Leukocytosis, Thrombocytosis, Portal hypertension, Hepatomegaly, Petechiae, Lymphaden... ORPHA:824
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Anisopoikilocytosis, Anemia, Schistocytosis OMIM:616457
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Porphyria, Acute Hepatic
Hemolytic anemia OMIM:612740
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Elliptocytosis, Pallor, Jaundice OMIM:611804
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Aicardi-Goutieres Syndrome 6
Hemolytic anemia OMIM:615010
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Harderoporphyria
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Reticulocytosis, Hemolytic anemia OMIM:618892
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Growth delay, Sideroblastic ane... OMIM:616084
Thrombotic Thrombocytopenic Purpura, Hereditary
Prolonged neonatal jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, ... OMIM:274150
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... OMIM:617514
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Myelofibrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:617441
Cold Agglutinin Disease
Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Pallor ORPHA:56425
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Pyruvate Kinase Deficiency Of Red Cells
Intrauterine growth retardation, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... OMIM:266200
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Lecithin:Cholesterol Acyltransferase Deficiency
Normochromic anemia, Hemolytic anemia, Hypertriglyceridemia OMIM:245900
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Glycogen Storage Disease Vii
Gout, Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, ... OMIM:232800
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia OMIM:618660
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Neonatal death OMIM:273680
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Congenital Atransferrinemia
Anemia, Arthritis, Abnormality of the pancreas ORPHA:1195
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly, Pallor ORPHA:163596
8P11.2 Deletion Syndrome
Hemolytic anemia, Growth delay, Short stature, Splenomegaly, Spherocytosis ORPHA:251066
Autoimmune Hemolytic Anemia
Pallor, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate prod... OMIM:300367
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia OMIM:300653
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Limitation of joint mobility, Thrombocytopenia, Hemolytic... ORPHA:108
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:54057
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Growth delay, Short stature, Splenomegaly, Hemolytic anemia, Jaundice OMIM:608885
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Short stature, Anemia, Anisocytosis, Poikilocytosis, Abnormal ... ORPHA:98870
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis OMIM:608898
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Microcytic ... OMIM:600462
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:507
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hemolytic anemia, Erythema, Hypertriglyceridemia OMIM:177000
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Growth delay, Elevated hepatic iron concentration, Anemia, Hepatosplenomegal... ORPHA:300298
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Thrombocytopenia OMIM:610539
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Ecchymosis, Increased mean platelet volume, Petechiae, Stomatocytosis, Splenomegaly, Hemolytic an... OMIM:153670
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Jaundice OMIM:613839
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Osteoporosis, Anemia, Splenomegaly, Osteolysis ORPHA:100024
Glycogen Storage Disease Xii
Normocytic anemia, Short stature, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyt... OMIM:611881
Beta-Thalassemia Intermedia
Splenomegaly, Reduced bone mineral density, Hepatosplenomegaly, Pallor, Skin ulcer, Jaundice, Ane... ORPHA:231222
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Lathosterolosis
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Growth delay, Acanthocytosis... OMIM:607330
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia OMIM:153550
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Growth delay, Asplenia, Coombs-positive hemolytic anemia, Lymphaden... OMIM:614034
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Rosaï-Dorfman Disease
Lymphadenopathy, Erythema, Anemia, Osteolysis ORPHA:158014
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Peritonitis, Pancreatitis, Retic... ORPHA:90038
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Nephronophthisis
Anemia ORPHA:655
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Hypertriglyceridemia, Thrombocy... OMIM:603552
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia, Jaundice OMIM:301015
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Diamond-Blackfan Anemia 9
Anemia, Growth delay OMIM:613308
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor, Thrombocytopenia, Megaloblastic anemia, Short stature ORPHA:49827
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Elliptocytosis OMIM:616959
Stormorken-Sjaastad-Langslet Syndrome
Short stature, Anemia, Purpura, Asplenia ORPHA:3204
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly, Anisocytosis, Poikilocytosis, Chronic hemoly... OMIM:618278
Elliptocytosis 3
Pyropoikilocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume, Intermittent jau... OMIM:617948
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Beta-Thalassemia Major
Anisopoikilocytosis, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Pallor, Skin ulcer, Decreas... ORPHA:231214
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Alpha-Heavy Chain Disease
Hepatomegaly, Growth delay, Ascites, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100025
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Growth delay, Short stature, Erythroid hypoplasia, Reticulocytopenia OMIM:612527
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Arthritis, Leukopenia OMIM:152700
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis OMIM:615558
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Petechiae, Osteopetrosis, Anemia, Abnormality of the lymph nodes, Spl... OMIM:612840
Fetal Parvovirus Syndrome
Thrombocytopenia, Intrauterine growth retardation, Anemia, Ascites ORPHA:295
Fanconi Anemia, Complementation Group T
Short stature, Anemia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia OMIM:616435
Acute Erythroid Leukemia
Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia, Pancytopenia ORPHA:318
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Osteopenia, Splenomegaly, Recurrent fractures OMIM:618107
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Thrombocytopenia... OMIM:613101
Fanconi Anemia, Complementation Group G
Neutropenia, Growth delay, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Majeed Syndrome
Growth delay, Erythroid hyperplasia, Osteomyelitis, Hepatosplenomegaly, Microcytic anemia, Flexio... OMIM:609628
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia, Jaundice OMIM:268150
Mcleod Syndrome
Acanthocytosis, Abnormal erythrocyte morphology, Hepatosplenomegaly OMIM:300842
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Acanthocytosis OMIM:607236
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Pallor, Jaundice OMIM:246400
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Hepatic fibrosis, Hepatocellular carcinoma, Growth delay, Osteopor... ORPHA:231226
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Osteopenia, Steatorrhea, Calvarial hyperostosis, Ex... OMIM:612714
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased bone mine... ORPHA:37748
Cernunnos-Xlf Deficiency
B lymphocytopenia, Growth delay, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormality of the liver, Panc... ORPHA:398124
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Short stature, Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired oxidati... OMIM:618935
Bone Marrow Failure Syndrome 4
Leukopenia, Short stature, Rhizomelia, Anemia, Bone marrow hypocellularity, Dry skin, Thrombocyto... OMIM:618116
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Diamond-Blackfan Anemia 5
Macrocytic anemia, Short stature, Leukopenia, Erythroid hypoplasia, Reticulocytopenia OMIM:612528
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Autoimmune thrombocyto... ORPHA:1959
Triosephosphate Isomerase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, C... OMIM:615512
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... ORPHA:101096
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Sp... OMIM:616860
Bone Marrow Failure Syndrome 5
Anemia, Pure red cell aplasia, Short stature OMIM:618165
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Orotic Aciduria
Hypochromia, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unr... OMIM:258900
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia OMIM:615399
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... OMIM:603903
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Petechiae, Abnormal lymphatic vessel ... ORPHA:2330
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis OMIM:613313
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia OMIM:612300
Galactosemia I
Cirrhosis, Hepatomegaly, Hemolytic anemia OMIM:230400
Bleeding Disorder, Platelet-Type, 16
Petechiae, Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis OMIM:187800
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic anemia ORPHA:169090
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Splenomegaly, Autoimmune hemolytic anemia, Pallor, Jaundice ORPHA:90033
Diamond-Blackfan Anemia 12
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... OMIM:615550
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... ORPHA:210110
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Sterile arthritis, Pyoderma gangrenosum, Arthritis, Knee flexion contracture, Hep... OMIM:604416
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Chronic hepatitis, Sclerosing cholangitis, Hepatitis, Splenomegaly, Ci... OMIM:308230
Abetalipoproteinemia
Acanthocytosis OMIM:200100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Hepatitis, Anemia, Arthritis, Aut... OMIM:304790
Chylomicron Retention Disease
Growth delay, Acanthocytosis, Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepat... ORPHA:71
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia, Growth delay OMIM:250800
Niemann-Pick Disease, Type B
Hepatomegaly, Short stature, Bone-marrow foam cells, Splenomegaly, Hypertriglyceridemia, Sea-blue... OMIM:607616
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Salmonella osteomy... OMIM:209950
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Growth delay ORPHA:57
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia OMIM:610090
Malaria
Thrombocytopenia, Anemia ORPHA:673
Lcat Deficiency
Hemolytic anemia, Hypertriglyceridemia ORPHA:650
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Lymphadenopathy, Decreased proportion of CD4+CD25+ regulator... OMIM:606367
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Growth delay OMIM:243320
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Anemia, Sideroblastic, 1
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... OMIM:300751
Ollier Disease
Lymphangioma, Anemia, Joint stiffness, Skin ulcer, Osteolysis ORPHA:296
Transaldolase Deficiency
Anemia, Cirrhosis, Hepatosplenomegaly, Premature skin wrinkling, Thrombocytopenia ORPHA:101028
Wolman Disease
Hepatomegaly, Growth delay, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly, Steatorrhea ORPHA:75233
Isolated Agammaglobulinemia
Short stature, Abnormality of the lymphatic system, Abnormal lymphocyte morphology, Anemia, Abnor... ORPHA:229717
Atransferrinemia
Abnormality of the liver, Hypochromic anemia OMIM:209300
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia OMIM:603278
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Mixed Connective Tissue Disease
Hepatomegaly, Mediastinal lymphadenopathy, Leukopenia, Lymphadenopathy, Arthritis, Splenomegaly, ... ORPHA:809
Immunodeficiency 55
Intrauterine growth retardation, Neutropenia, Short stature, Lymphadenopathy, Postnatal growth re... OMIM:617827
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Amme Complex
Elliptocytosis OMIM:300194
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells,... ORPHA:331206
Intermediate Generalized Junctional Epidermolysis Bullosa
Anemia, Growth delay ORPHA:79402
Congenital Toxoplasmosis
Hepatomegaly, Intrauterine growth retardation, Ascites, Lymphadenopathy, Anemia, Cardiomegaly, Th... ORPHA:858
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in muscle tissue, Ectopic ossification in ligament tissue, Anemia, Synostosi... ORPHA:337
Refractory Anemia With Excess Blasts
Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Acute... ORPHA:86839
Reticular Dysgenesis
Leukopenia, Anemia, Aplasia/Hypoplasia of the thymus, Abnormality of neutrophils, Skin ulcer ORPHA:33355
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly, Pallor ORPHA:99931
Myelofibrosis
Myelofibrosis, Splenomegaly, Myeloproliferative disorder, Purpura, Pallor OMIM:254450
Porphyria, Congenital Erythropoietic
Short stature, Joint contracture of the hand, Cholelithiasis, Splenomegaly, Pathologic fracture, ... OMIM:263700
Immunodeficiency 31C
Growth delay, Short stature, Osteopenia, Lymphopenia, Delayed puberty, Autoimmune hemolytic anemia OMIM:614162
Idiopathic Aplastic Anemia
Ecchymosis, Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Th... ORPHA:88
Hereditary Folate Malabsorption
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Eosinophilia, Pallor ORPHA:90045
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Hereditary Cryohydrocytosis With Reduced Stomatin
Short stature, Stomatocytosis, Hepatosplenomegaly, Postnatal growth retardation, Spontaneous hemo... ORPHA:168577
Potocki-Shaffer Syndrome
Decreased skull ossification, Anemia, Delayed puberty ORPHA:52022
Aicardi-Goutieres Syndrome 9
Portal hypertension, Hepatomegaly, Intrauterine growth retardation, Hepatic fibrosis, Ascites, Os... OMIM:619487
Cinca Syndrome
Leukocytosis, Growth delay, Lymphadenopathy, Anemia, Arthritis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Ascites, Splenomegaly ORPHA:1046
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Hypertriglyceridemia, Pancytopenia, Hemophagocytosis OMIM:618398
Paroxysmal Cold Hemoglobinuria
Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia ORPHA:90035
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia OMIM:614480
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia, Petechiae OMIM:616216
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Delayed puberty ORPHA:2598
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Osteolysis, ... ORPHA:100026
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia OMIM:615607
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia OMIM:246450
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:266120
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612926
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Abnormality of the liver, Autoimmune thrombocytopenia, Purpura, Ly... ORPHA:1572
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hem... OMIM:608184
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, Hepatosplenomeg... OMIM:259710
Wilson Disease
Hepatomegaly, Hepatocellular carcinoma, Osteoarthritis, Osteoporosis, Cirrhosis, Joint hypermobil... OMIM:277900
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis OMIM:604777
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin, Anemia, Growth delay OMIM:614450
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly OMIM:230900
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly OMIM:618541
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Autoimmune hemolytic anemia ORPHA:90036
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia ORPHA:51208
Myasthenia Gravis
Hepatitis, Pure red cell aplasia, Rheumatoid arthritis, Abnormality of the thymus, Hemolytic anemia ORPHA:589
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Osteomalacia, Growth delay, Rickets ORPHA:89937
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Hyperlysinemia, Type I
Anemia OMIM:238700
Fanconi Anemia, Complementation Group V
Neutropenia, Short stature, Anemia, Bone marrow hypocellularity, Thrombocytopenia OMIM:617243
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Growth delay, Ascites, Short stature, Osteopetrosis, Anemia, Decreased osteoclast c... OMIM:259720
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Recurrent fractures, Short stature, Splenomegaly ORPHA:417
Short Stature With Microcephaly And Distinctive Facies
Anisopoikilocytosis, Anemia, Severe short stature, Osteopenia OMIM:615789
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Portal hyp... OMIM:616278
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Facial erythema ORPHA:284227
Diamond-Blackfan Anemia 20
Anemia, Erythroid hypoplasia OMIM:618313
Hemochromatosis, Type 3
Neutropenia, Anemia, Arthritis, Cirrhosis, Purpura, Lymphopenia OMIM:604250
Lesch-Nyhan Syndrome
Anemia, Gout ORPHA:510
Choreoacanthocytosis
Acanthocytosis OMIM:200150
Immunodeficiency 76
B lymphocytopenia, Growth delay, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Glutamate Formiminotransferase Deficiency
Growth delay, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Intrauterine growth retardation, Growth delay, Acanthocytosis, Arthrogryposis ... OMIM:618947
Congenital Erythropoietic Porphyria
Erythroid hyperplasia, Leukopenia, Osteoporosis, Splenomegaly, Osteopenia, Anisocytosis, Poikiloc... ORPHA:79277
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Bone marrow hypocel... OMIM:231095
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Intrauterine growth retardation, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Th... OMIM:610333
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia ORPHA:28
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Tufted Angioma
Thrombocytopenia, Anemia, Purpura, Petechiae ORPHA:1063
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Limited pronation/supination of forearm, Neutropenia, Anemia, Congenital thrombocytopenia, Thromb... OMIM:616738
Senior-Loken Syndrome 1
Anemia OMIM:266900
Tyrosinemia Type 1
Rickets of the lower limbs, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Familial Lambdoid Synostosis
Stomatocytosis ORPHA:3267
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... OMIM:613011
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia, Growth delay OMIM:614946
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Cirrhosis, Hepatic steatosis, Osteoarthritis OMIM:606069
Congenital Rubella Syndrome
Hepatomegaly, Intrauterine growth retardation, Short stature, Anemia, Splenomegaly, Thrombocytope... ORPHA:290
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Acanthocytosis, Hypocholesterolemia, Postnatal growth retardation, Abnormal erythr... ORPHA:96180
Oslam Syndrome
Anemia, Radioulnar synostosis OMIM:165660
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemia, Growth delay, Anemic pallor ORPHA:329971
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia ORPHA:79312
Amed Syndrome, Digenic
Leukopenia, Short stature, Bone marrow hypocellularity, Anemia, Acute myeloid leukemia, Thrombocy... OMIM:619151
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Intrauterine growth retardation, Neutropenia, Short stature, Anemia, Gout OMIM:617056
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Neonatal death, Stillbirth, Arthrogryposis multiplex con... ORPHA:85212
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Gaucher Disease Type 1
Hepatomegaly, Growth delay, Leukopenia, Ascites, Biliary tract obstruction, Anemia, Splenomegaly,... ORPHA:77259
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia, Hepatomegaly, Ascites ORPHA:2123
Autoinflammation With Infantile Enterocolitis
Short stature, Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocyto... OMIM:616050
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Anemia ORPHA:2668
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Intrauterine growth retardation, Anemia, Decreased circulating cortisol level OMIM:618838
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Mediastinal lymphadenopathy, Anemia, Bone marrow hypocellularity, Osteopenia, Myeloid leukemia, C... OMIM:614742
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Splenomegaly, Acute ... ORPHA:158057
Immunodeficiency, Common Variable, 12, With Autoimmunity
Pyoderma gangrenosum, Thrombocytopenia, Autoimmune hemolytic anemia OMIM:616576
Infantile Liver Failure Syndrome 1
Hepatomegaly, Macrocytic anemia, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... OMIM:615438
Classic Mycosis Fungoides
Hepatomegaly, Lymphadenopathy, Erythema, Abnormal lymphocyte morphology, Splenomegaly, Dry skin, ... ORPHA:2584
Gaucher Disease, Type Iii
Hepatomegaly, Short stature, Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Growth delay, Increased mean corpuscular volume, Short stature OMIM:612563
Cinca Syndrome
Leukocytosis, Hepatomegaly, Growth delay, Lymphadenopathy, Anemia, Abnormal granulocyte morpholog... ORPHA:1451
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Reduced bone mineral density, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Septic arthritis, Lymphopenia, Pancytope... OMIM:617780
Dysplastic Cortical Hyperostosis
Hepatomegaly, Short stature, Abnormal cortical bone morphology, Splenomegaly, Increased bone mine... ORPHA:2204
Diamond-Blackfan Anemia 6
Macrocytic anemia, Growth delay, Increased mean corpuscular volume, Persistence of hemoglobin F, ... OMIM:612561
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Senior-Loken Syndrome 4
Anemia OMIM:606996
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Abetalipoproteinemia
Hepatomegaly, Hepatic fibrosis, Acanthocytosis, Hypocholesterolemia, Anemia, Cardiomegaly, Osteop... ORPHA:14
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Intrauterine growth retardation, Hepatomegaly, Splenomegaly OMIM:615846
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Petechiae, Splenomegaly, Thrombocytopenia, Sea-blue hi... ORPHA:158029
Diamond-Blackfan Anemia 11
Neutropenia, Short stature, Anemia, Bone marrow hypocellularity, Anemia of inadequate production,... OMIM:614900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Growth delay, Anemia, Pancreatitis, Thrombocytopenia ORPHA:289916
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Episodic hemolytic anemia, Craniosynostosis, Recurrent fractures, Delayed puberty,... ORPHA:251004
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Neutropenia, Petechiae, Anemia, Splenomegaly, Purpura, Thrombocytopen... ORPHA:90051
Osteopetrosis, Autosomal Recessive 3
Short stature, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary he... OMIM:259730
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Juvenile rheumatoid ... ORPHA:158061
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Lymphadenopathy, Osteoporosis, An... ORPHA:98850
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Pyoderma gangrenosum, Lymphadenopathy, In... OMIM:150550
Stormorken Syndrome
Short stature, Asplenia, Anemia, Howell-Jolly bodies, Thrombocytopenia OMIM:185070
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Splenomegaly, Pa... OMIM:259700
Portal Hypertension, Noncirrhotic, 2
Ecchymosis, Hepatomegaly, Petechiae, Hepatocellular carcinoma, Ascites, Nodular regenerative hype... OMIM:619463
Pearson Syndrome
Hepatomegaly, Neutropenia, Growth delay, Macronodular cirrhosis, Anemia, Bone marrow hypocellular... ORPHA:699
Anti-Glomerular Basement Membrane Disease
Arthritis, Anemia, Purpura ORPHA:375
Hypophosphatasia
Recurrent fractures, Craniosynostosis, Anemia, Short stature ORPHA:436
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Short stature, Anemia, Limitation of joint mobility ORPHA:1192
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Erythema, Splenomegaly, Flexion contracture, Autoimmune hemolytic ... OMIM:619183
Albers-Schönberg Osteopetrosis
Short stature, Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyel... ORPHA:53
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Growth delay, Splenomegaly ORPHA:79238
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia, Short stature, Flexion contracture ORPHA:98791
Familial Benign Copper Deficiency
Anemia, Short stature ORPHA:1551
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Hypertriglyceridemia, Pancytopenia, Aplastic anemia, Hemop... OMIM:300635
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Rickets, Hepatic s... ORPHA:79303
Wilson Disease
Hepatomegaly, Hepatitis, Anemia, Arthritis, Acute hepatitis, Splenomegaly, Cirrhosis, Hepatic ste... ORPHA:905
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor OMIM:268040
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... OMIM:278000
Catastrophic Antiphospholipid Syndrome
Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Arthritis, Thrombocytopenia,... ORPHA:464343
Felty Syndrome
Hepatomegaly, Neutropenia, Synovitis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Bo... ORPHA:47612
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Anemia, Short stature OMIM:226670
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnormality of the p... ORPHA:54251
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hemolytic anemia ORPHA:529799
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Rhabdoid Tumor
Lymphadenopathy, Thrombocytopenia, Anemia, Neoplasm of the liver ORPHA:69077
Omenn Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... ORPHA:39041
Waldenström Macroglobulinemia
Hepatomegaly, Normocytic anemia, Leukemia, Lymphadenopathy, Splenomegaly, Purpura, Pallor, Abnorm... ORPHA:33226
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Hepatomegaly, Neutropenia, Short stature, Anemia, Pe... OMIM:260400
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Increas... ORPHA:98848
Combined Oxidative Phosphorylation Deficiency 40
Intrauterine growth retardation, Neonatal death, Anemia, Decreased circulating cortisol level OMIM:618835
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Gaucher Disease, Type I
Hepatomegaly, Anemia, Splenomegaly, Pathologic fracture, Hypersplenism, Pancytopenia, Thrombocyto... OMIM:230800
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Muckle-Wells Syndrome
Hepatomegaly, Short stature, Anemia, Arthritis, Splenomegaly, Camptodactyly of finger, Delayed pu... ORPHA:575
Combined Oxidative Phosphorylation Deficiency 42
Intrauterine growth retardation, Neonatal death, Anemia, Decreased circulating cortisol level OMIM:618839
Immunodeficiency 23
Neutropenia, Erythema, Joint hypermobility, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Hepatoportal Sclerosis
Leukopenia, Hepatocellular carcinoma, Ascites, Anemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Dermotrichic Syndrome
Proportionate short stature, Anemia ORPHA:99688
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Petechiae, Hyperlipidemia, Lymphadenopathy, Splenomegaly, Pancytopenia... ORPHA:79477
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Short stature, Fused cervical vertebrae ORPHA:2522
Pediatric Systemic Lupus Erythematosus
Leukopenia, Microangiopathic hemolytic anemia, Lymphadenopathy, Ascites, Arthritis, Lymphopenia, ... ORPHA:93552
Coach Syndrome 3
Anemia, Portal fibrosis OMIM:619113
Essential Thrombocythemia
Myelofibrosis, Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Intrauterine growth retardation, Flexion contracture, Splenomegaly OMIM:608540
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Pallor, Short stature ORPHA:2786
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Short stature, Rickets, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic chole... OMIM:211600
Fanconi Anemia, Complementation Group C
Neutropenia, Intrauterine growth retardation, Anemic pallor, Short stature, Leukemia, Anemia, Bon... OMIM:227645
Fumarase Deficiency
Polycythemia, Pallor, Cholestasis OMIM:606812
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Fanconi Anemia, Complementation Group E
Neutropenia, Anemic pallor, Short stature, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thr... OMIM:600901
Dohle Bodies And Leukemia
Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies OMIM:223350
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Lymphopenia, Hypertriglyceridemia... OMIM:617591
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Growth delay, Lymphadenopathy, Osteopetrosis, Craniosynostosis, Anemia, Splenomegal... ORPHA:667
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Hepatomegaly, Leukopenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:27
Niemann-Pick Disease, Type A
Hepatomegaly, Ascites, Short stature, Lymphadenopathy, Osteoporosis, Bone-marrow foam cells, Sple... OMIM:257200
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Intrauterine growth retardation, Ascites, Anemia, Cholestasis, Camptodactyly, Throm... OMIM:608104
Prolidase Deficiency
Hepatomegaly, Petechiae, Anemia, Splenomegaly, Prolonged neonatal jaundice, Thrombocytopenia, Ski... OMIM:170100
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Petechiae, Hypoplasia of the thymus, Chronic leukemia, Abnormal plat... ORPHA:906
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia OMIM:613092
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Splenomegaly OMIM:619046
X-Linked Agammaglobulinemia
Neutropenia, Short stature, Abnormality of the lymphatic system, Hepatitis, Anemia, Abnormality o... ORPHA:47
Fanconi Anemia, Complementation Group A
Neutropenia, Anemic pallor, Short stature, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thr... OMIM:227650
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Osteoporosis, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Biliary ... ORPHA:79301
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Retinitis Pigmentosa 42
Pallor OMIM:612943
Specific Granule Deficiency 2
Neutropenia, Absent neutrophil specific granules, Anemia, Osteopenia, Thrombocytopenia OMIM:617475
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Redundant neck skin, Severe short-limb dwarfism, Rhizomelia, Anemia, Joint hyperfle... ORPHA:1842
Majeed Syndrome
Leukocytosis, Hepatomegaly, Hypochromic microcytic anemia, Synovitis, Congenital hypoplastic anem... ORPHA:77297
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Lymphangioma, Splenomegaly, Calvarial hyperostosis, Fa... OMIM:176920
Transaldolase Deficiency
Hepatomegaly, Intrauterine growth retardation, Hepatic fibrosis, Anemia, Micronodular cirrhosis, ... OMIM:606003
Hellp Syndrome
Thrombocytopenia, Hemolytic anemia, Microangiopathic hemolytic anemia, Decreased mean corpuscular... ORPHA:244242
Hepatoerythropoietic Porphyria
Erythroid hyperplasia, Osteoporosis, Osteopenia, Splenomegaly, Hemolytic anemia, Osteolysis ORPHA:95159
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Postnatal growth retardation, Intrauterine growth retardation, ... OMIM:610198
Isolated Sedoheptulokinase Deficiency
Hypochromic microcytic anemia, Short stature, Severe postnatal growth retardation, Hepatitis, Ane... ORPHA:440713
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Congenital Disorder Of Glycosylation, Type Iig
Intrauterine growth retardation, Rhizomelia, Anemia, Osteopenia, Left ventricular hypertrophy, Po... OMIM:611209
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Short stature, Splenomegaly OMIM:602271
Farber Lipogranulomatosis
Hepatomegaly, Osteolysis involving bones of the feet, Arthritis, Splenomegaly, Lipogranulomatosis... OMIM:228000
Diamond-Blackfan Anemia 10
Macrocytic anemia, Growth delay, Short stature, Anemia, Reticulocytopenia OMIM:613309
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... OMIM:308240
Immunodeficiency 54
Hepatomegaly, Intrauterine growth retardation, Short stature, Lymphadenopathy, Splenomegaly, Redu... OMIM:609981
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Retinitis Pigmentosa 60
Pallor OMIM:613983
Autosomal Erythropoietic Protoporphyria
Cirrhosis, Cholelithiasis, Microcytic anemia, Erythema ORPHA:79278
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Short stature, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenom... OMIM:612526
Distal Renal Tubular Acidosis
Growth delay, Short stature, Rickets, Increased susceptibility to fractures, Reduced bone mineral... ORPHA:18
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Arthritis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia,... OMIM:616100
Galactosemia Iii
Jaundice, Hepatomegaly, Splenomegaly OMIM:230350
Lathosterolosis
Hepatomegaly, Anisopoikilocytosis, Intrauterine growth retardation, Abnormal platelet morphology,... ORPHA:46059
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Rickets, Hypocholesterolemia, Splenomegaly, C... OMIM:607765
Familial Hemophagocytic Lymphohistiocytosis
Ecchymosis, Hepatomegaly, Neutropenia, Petechiae, Lymphadenopathy, Anemia, Splenomegaly, Cholesta... ORPHA:540
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Arthritis, Splenomegaly OMIM:611762
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Pallor, Splenomegaly ORPHA:3386
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, Cervical lymph... ORPHA:514
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Anemia, Cardiomegaly, Congenital thrombocytopenia OMIM:618886
Paroxysmal Nocturnal Hemoglobinuria
Leukopenia, Erythroid hyperplasia, Anemia, Reticulocytosis, Pancytopenia, Thrombocytopenia, Hemol... ORPHA:447
Retinitis Pigmentosa 81
Pallor OMIM:617871
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Cervical lymphadenopathy, Intrauterine growth retardation, Ascites, Growth delay, J... OMIM:619573
Celiac Disease, Susceptibility To, 1
Thrombocytosis, Macrocytic anemia, Short stature, Rickets, Iron deficiency anemia, Osteoporosis, ...