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Gene: Slc20a1 MGI:108392

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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.

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
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Pallor, 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
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... OMIM:615631
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Anemia of ina... OMIM:224120
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Short stature ORPHA:66518
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia OMIM:140700
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Increased bone mineral density, Petechiae, Recurrent fractures, Sp... OMIM:611490
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytos... OMIM:615234
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis ORPHA:33574
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Abnormal hemoglobin, Anemia, Decreased skull ossification, Thrombocytopenia ORPHA:3319
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ... OMIM:314050
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Short stature, Rickets, Hepatosplenomegaly, Decreased mean cor... OMIM:611590
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... OMIM:601775
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal... ORPHA:232
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Splenomegaly, Intrauterine growth retardation, Thrombocytopenia OMIM:615010
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia ORPHA:517
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytope... OMIM:235400
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
X-Linked Sideroblastic Anemia
Splenomegaly, Pallor, Anemia ORPHA:75563
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
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... ORPHA:288
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Porphyria, Acute Hepatic
Hemolytic anemia OMIM:612740
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Reduce... ORPHA:848
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombo... ORPHA:824
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly 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, Schistocytosis, Hypochromic microcytic anemia, Growth delay, ... OMIM:616084
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ... OMIM:274150
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology OMIM:300622
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia OMIM:245900
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Cold Agglutinin Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor ORPHA:56425
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia OMIM:618660
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Xanthelasma, Stomato... OMIM:210250
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia ORPHA:163596
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia, Arthritis ORPHA:1195
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Developmental And Epileptic Encephalopathy 50
Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis OMIM:616457
8P11.2 Deletion Syndrome
Hemolytic anemia, Short stature, Splenomegaly, Spherocytosis, Growth delay ORPHA:251066
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Pet... OMIM:300367
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia ORPHA:1802
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Limitation of joint mobility, Leukopenia,... ORPHA:108
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Diamond-Blackfan Anemia 13
Normocytic anemia OMIM:615909
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, ... ORPHA:98870
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreased mean corpuscu... ORPHA:300298
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Lymphadenop... ORPHA:507
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Erythema, Cholelithiasis, Hypertriglyceridemia OMIM:177000
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Growth delay, Sideroblastic anemia, Pallor, Hepatomegaly OMIM:613561
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... OMIM:232800
Niemann-Pick Disease, Type B
Hepatomegaly, Hypertriglyceridemia, Short stature, Bone-marrow foam cells, Thrombocytopenia, Sple... OMIM:607616
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia ORPHA:100024
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Growth delay... OMIM:614034
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Nephronophthisis
Anemia ORPHA:655
Lathosterolosis
Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S... OMIM:607330
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Rosaï-Dorfman Disease
Erythema, Osteolysis, Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Diamond-Blackfan Anemia 9
Growth delay, Anemia OMIM:613308
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Pallor, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Hyperlysinemia, Type I
Anemia OMIM:238700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocyt... OMIM:603552
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa... ORPHA:90038
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia, Jaundice OMIM:301015
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Ascites, Anemia ORPHA:100025
Acute Peripheral Arterial Occlusion
Leukocytosis, Pallor ORPHA:90064
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia, Purpura ORPHA:3204
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Ecchym... OMIM:153670
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Anemia of inadequate produc... ORPHA:231214
Elliptocytosis 3
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... OMIM:617948
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Diamond-Blackfan Anemia 4
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia OMIM:612527
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia, Arthritis OMIM:152700
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... OMIM:613839
Fetal Parvovirus Syndrome
Thrombocytopenia, Ascites, Anemia, Intrauterine growth retardation ORPHA:295
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, Chronic noninfectious lymphad... OMIM:603909
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia OMIM:246400
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... OMIM:206100
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Acanthocytosis OMIM:607236
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Hepatosplenome... OMIM:612840
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Joint laxity, Microcytic anemia, Growth delay, Pallor,... OMIM:600462
Fanconi Anemia, Complementation Group G
Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor ORPHA:90037
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Skin ulcer, An... ORPHA:231226
Fibrodysplasia Ossificans Progressiva
Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic ossification in mu... ORPHA:337
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Anemia OMIM:618107
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemoph... OMIM:613101
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,... ORPHA:398124
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Rh-Null, Regulator Type
Hemolytic anemia, Jaundice, Stomatocytosis OMIM:268150
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Short stature, Splenomegaly, Lymphadenitis, Recurrent tonsi... OMIM:618935
Majeed Syndrome
Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl... OMIM:609628
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Evans Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... ORPHA:1959
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri... ORPHA:37748
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Orotic Aciduria
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... OMIM:258900
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia OMIM:615399
Kasabach-Merritt Syndrome
Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, H... ORPHA:2330
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, C... OMIM:612714
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... OMIM:618278
Bone Marrow Failure Syndrome 4
Short stature, Rhizomelia, Anemia, Leukopenia, Bone marrow hypocellularity, Dry skin, Thrombocyto... OMIM:618116
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay, Stomatocytosis OMIM:608885
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Hypocholesterolemia, Steatorrhea, Acanthocytosis OMIM:615558
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Hemolytic anemia OMIM:612300
Diamond-Blackfan Anemia 5
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Leukopenia OMIM:612528
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Ichthyosis, Congenital, Autosomal Recessive 5
White scaling skin, Acanthocytosis OMIM:604777
Bleeding Disorder, Platelet-Type, 16
Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia OMIM:187800
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Arthritis, Coombs-... OMIM:304790
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor ORPHA:90033
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Malaria
Anemia, Thrombocytopenia ORPHA:673
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Elbow flexion contracture, Pyoderma gangrenosum, Hepatosplenomeg... OMIM:604416
Abetalipoproteinemia
Acanthocytosis OMIM:200100
Glycogen Storage Disease Due To Aldolase A Deficiency
Growth delay, Hemolytic anemia ORPHA:57
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Growth delay, Hypocholesterolemia, Increased h... ORPHA:71
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Anemia OMIM:610090
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Lcat Deficiency
Hemolytic anemia, Hypertriglyceridemia ORPHA:650
Galactosemia I
Hemolytic anemia, Cirrhosis, Hepatomegaly OMIM:230400
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Normochromic anemia, Chol... OMIM:611881
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Anemia, Petechiae, Purpura OMIM:620296
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... OMIM:209950
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Bone marrow hypocellularit... OMIM:616435
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Methemoglobinemia, Polycythemia OMIM:250800
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Megaloblastic anemia OMIM:243320
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom... ORPHA:210110
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Purpura OMIM:614514
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Cirrhosis, Premature skin wrinkling, Thrombocytopenia ORPHA:101028
Ollier Disease
Joint stiffness, Osteolysis, Skin ulcer, Lymphangioma, Anemia ORPHA:296
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Isolated Agammaglobulinemia
Short stature, Abnormality of the tonsils, Abnormality of neutrophils, Thrombocytopenia, Abnormal... ORPHA:229717
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Growth delay, Steatorrhea, Ascites, Anemia ORPHA:75233
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... ORPHA:86839
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor ORPHA:99931
Atransferrinemia
Abnormality of the liver, Hypochromic anemia OMIM:209300
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Intrauterine growth retardation, A... ORPHA:858
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Joint stiffness, Splenomegaly, Mediastinal lymphadenopathy, Osteo... ORPHA:809
Mcleod Syndrome
Hepatomegaly, Splenomegaly, Acanthocytosis OMIM:300842
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia OMIM:246450
Intermediate Generalized Junctional Epidermolysis Bullosa
Growth delay, Anemia ORPHA:79402
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... OMIM:615512
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:619175
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia ORPHA:90045
Myelofibrosis
Myelofibrosis, Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Diamond-Blackfan Anemia 12
Macrocytic anemia, Reticulocytopenia, Normochromic anemia OMIM:615550
Reticular Dysgenesis
Abnormality of neutrophils, Skin ulcer, Leukopenia, Aplasia/Hypoplasia of the thymus, Anemia ORPHA:33355
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Anemia ORPHA:1046
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Osteoporosis, Dry skin, ... OMIM:619487
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Paroxysmal Cold Hemoglobinuria
Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia ORPHA:90035
Potocki-Shaffer Syndrome
Decreased skull ossification, Anemia, Delayed puberty ORPHA:52022
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Short stature, Postnatal growth retardation, Jaundice, Hepatospleno... ORPHA:168577
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Delayed puberty ORPHA:2598
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Hemophagocytosis, Anemia OMIM:618398
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Choreoacanthocytosis
Acanthocytosis OMIM:200150
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:266120
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Absence of lymph node germinal center, Autoimmune thr... OMIM:608184
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Growth delay, Arthritis, Anemia OMIM:607115
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Ecchymosis, Th... ORPHA:88
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... ORPHA:1572
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Osteolysis, Ch... OMIM:263700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Autosomal Dominant Hypophosphatemic Rickets
Growth delay, Iron deficiency anemia, Rickets, Osteomalacia ORPHA:89937
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Thrombocytopenia 5
Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia ORPHA:28
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... OMIM:259710
Hypothyroidism, Congenital, Nongoitrous, 6
Growth delay, Dry skin, Anemia 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
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Myasthenia Gravis
Hemolytic anemia, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Rheumatoid arthritis ORPHA:589
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite... OMIM:616738
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Short stature, Recurrent fractures, Hepatomegaly ORPHA:417
Amme Complex
Intrauterine growth retardation, Elliptocytosis, Joint hypermobility OMIM:300194
Lesch-Nyhan Syndrome
Gout, Anemia ORPHA:510
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Short stature, Joint stiffness, Postnatal growth retardation, Splenomegaly, Reduced... OMIM:620210
Hemochromatosis, Type 3
Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Purpura OMIM:604250
Tempi Syndrome
Ascites, Increased hematocrit, Polycythemia, Facial erythema ORPHA:284227
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... ORPHA:79277
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor, Anemia ORPHA:329971
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Short Stature With Microcephaly And Distinctive Facies
Osteopenia, Severe short stature, Anisopoikilocytosis, Anemia OMIM:615789
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Acanthocytosis, Flexion contracture, Elbow flexion contracture, Growth delay, ... OMIM:618947
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, ... OMIM:620366
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Anemia ORPHA:371
Tufted Angioma
Anemia, Petechiae, Thrombocytopenia, Purpura ORPHA:1063
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... OMIM:231095
Tyrosinemia Type 1
Splenomegaly, Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... OMIM:226990
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Fanconi Anemia, Complementation Group V
Short stature, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Amed Syndrome, Digenic
Acute myeloid leukemia, Short stature, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocy... OMIM:619151
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Intrauterine growth retardation, Th... OMIM:610333
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... OMIM:620282
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Short stature, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocyto... OMIM:616050
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Decreased circulating cortisol level, Anemia, Cardiomegaly OMIM:618838
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Osteopenia, Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellulari... OMIM:614742
Maternal Uniparental Disomy Of Chromosome 4
Short stature, Acanthocytosis, Abnormal erythrocyte morphology, Postnatal growth retardation, Hyp... ORPHA:96180
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Oslam Syndrome
Radioulnar synostosis, Anemia OMIM:165660
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Stillbi... ORPHA:85212
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomega... ORPHA:77259
Hemochromatosis, Type 4
Hepatomegaly, Osteoarthritis, Cirrhosis, Hepatic steatosis, Anemia OMIM:606069
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Ascites, Anemia OMIM:603278
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Erythema... OMIM:557000
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Diamond-Blackfan Anemia 8
Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia OMIM:612563
Congenital Rubella Syndrome
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Anemia, Intrauterine growth retardation, Thr... ORPHA:290
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth d... OMIM:301078
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Mitochondrial Complex I Deficiency, Nuclear Type 39
Intrauterine growth retardation, Anemia, Cardiomegaly OMIM:620135
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Bone cyst, Anemia ORPHA:2668
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Ascites, Anemia, Hepatomegaly ORPHA:2123
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Gout, Neutropenia, Intrauterine growth retardation, Anemia OMIM:617056
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Hepatocellular carcinoma, Thrombocyto... ORPHA:158057
Sepsis In Premature Infants
Hepatomegaly, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Anemia, Pallor, Neutropenia, Throm... ORPHA:90051
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Anemia ORPHA:2325
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Increased bone mineral density, Short stature, Splenomegaly, Abnormal cortical bone... ORPHA:2204
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density ORPHA:172
Diamond-Blackfan Anemia 6
Macrocytic anemia, Persistence of hemoglobin F, Growth delay, Increased mean corpuscular volume, ... OMIM:612561
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Hepatic st... OMIM:615438
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Abetalipoproteinemia
Osteopenia, Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis, Steatorrhea, Hepatic fib... ORPHA:14
Catastrophic Antiphospholipid Syndrome
Skin ulcer, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Throm... ORPHA:464343
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, Lympha... OMIM:150550
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Thrombocytopenia OMIM:231000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Anemia, Growth delay, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Senior-Loken Syndrome 4
Anemia OMIM:606996
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Dry skin, Abnormal lymphocyte ... ORPHA:2584
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Recurrent fractures, Craniosynostosis, Delayed puberty, Episodic hemolytic anemia,... ORPHA:251004
Niemann-Pick Disease, Type A
Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosi... OMIM:257200
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Growth del... ORPHA:1451
Sea-Blue Histiocytosis
Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Throm... ORPHA:158029
Familial Benign Copper Deficiency
Short stature, Anemia ORPHA:1551
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... ORPHA:98850
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosp... OMIM:259730
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Limitation of joint mobility, Short stature, Anemia ORPHA:1192
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Pearson Syndrome
Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Postnatal growth retardation, S... ORPHA:699
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Anti-Glomerular Basement Membrane Disease
Arthritis, Anemia, Purpura ORPHA:375
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Postnatal growth retardation, J... ORPHA:79303
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Hypophosphatasia
Craniosynostosis, Short stature, Recurrent fractures, Anemia ORPHA:436
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Pallo... ORPHA:33226
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Sple... OMIM:259700
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Erythema, Neutropenia, Lymphopenia, Joint hypermobility OMIM:615816
Galactose Epimerase Deficiency
Growth delay, Splenomegaly, Jaundice, Hepatomegaly ORPHA:79238
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Pgm3-Cdg
Hemolytic anemia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosinophilia, Short... ORPHA:443811
Orthostatic Hypotension 2
Anemia OMIM:618182
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocy... ORPHA:158061
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Erythema, Lymphaden... OMIM:619183
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Mandibular oste... ORPHA:53
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Hepatitis, Hemop... OMIM:300635
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... OMIM:278000
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, HbH hemoglobin, Short stature, Microcytic anemia ORPHA:98791
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Prolonged neonatal jaundice ORPHA:529808
C1Q Deficiency 2
Arthritis, Anemia, Facial erythema OMIM:620321
Acute Bilirubin Encephalopathy
Hemolytic anemia, Prolonged neonatal jaundice ORPHA:529799
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar... OMIM:617780
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Intrauterine growth retardation, Decreased circulating cortisol level, Anemia OMIM:618835
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Dry skin, Lymphadenopathy, Abnormal lymph... ORPHA:39041
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Intrauterine growth retardation, Decreased circulating cortisol level, Anemia OMIM:618839
Muckle-Wells Syndrome
Hepatomegaly, Short stature, Camptodactyly of finger, Splenomegaly, Arthritis, Delayed puberty, A... ORPHA:575
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenom... OMIM:211600
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Intrauterine growth retardation, Joint contracture OMIM:608540
Fanconi Anemia, Complementation Group E
Pancytopenia, Short stature, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thr... OMIM:600901
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Arthritis, Cirrhosis, Acute hepatitis, H... ORPHA:905
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Thrombocyto... OMIM:230800
Junctional Epidermolysis Bullosa Inversa
Growth delay, Anemia ORPHA:79405
Felty Syndrome
Hepatomegaly, Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Lymphadenopathy,... ORPHA:47612
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Short stature, Anemia OMIM:226670
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Dry skin, Anemia OMIM:620184
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... ORPHA:54251
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Lymphadenopathy, Growth delay,... ORPHA:667
Fanconi Anemia, Complementation Group C
Pancytopenia, Short stature, Anemic pallor, Flexion contracture, Reticulocytopenia, Anemia, Bone ... OMIM:227645
Coach Syndrome 3
Portal fibrosis, Anemia OMIM:619113
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Leukopenia, Ascites, Arthritis, Microangiopathic hemolytic anemia, Lymphopenia, ... ORPHA:93552
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Short stature, Steatorrhea, Persistence of he... OMIM:260400
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Short stature, Pallor, Osteoporosis ORPHA:2786
Dermotrichic Syndrome
Proportionate short stature, Anemia ORPHA:99688
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Microcytic anemia, Thrombocytopenia,... ORPHA:906
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Anemia OMIM:618165
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia ORPHA:27
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal reticulocyte morphology, Short stature, Fused cervical vertebrae ORPHA:2522
Essential Thrombocythemia
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... ORPHA:98848
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... ORPHA:244242
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis OMIM:620010
Wilson Disease
Hemolytic anemia, Hepatomegaly, Osteomalacia, Joint hypermobility, Splenomegaly, Atypical or prol... OMIM:277900
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Fanconi Anemia, Complementation Group A
Pancytopenia, Short stature, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thr... OMIM:227650
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Isolated Sedoheptulokinase Deficiency
Short stature, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Hypochromic micr... ORPHA:440713
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Flexion contracture, Lymphadenopathy, Anemia, A... OMIM:617591
Prolidase Deficiency
Hepatomegaly, Petechiae, Splenomegaly, Skin ulcer, Anemia, Prolonged neonatal jaundice, Thrombocy... OMIM:170100
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis, Hypercholes... OMIM:619868
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Steatorrhe... OMIM:212750
X-Linked Agammaglobulinemia
Osteomyelitis, Short stature, Abnormality of the tonsils, Abnormality of the lymphatic system, He... ORPHA:47
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Short stature, Joint hypermobility OMIM:617101
Late-Onset Junctional Epidermolysis Bullosa
Growth delay, Anemia ORPHA:79406
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Thrombocytopenia OMIM:617475
Diamond-Blackfan Anemia
Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop... ORPHA:124
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Rickets, Ac... OMIM:607765
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Immunodeficiency 54
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Intraut... OMIM:609981
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splen... ORPHA:77297
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia OMIM:275350
Proteus Syndrome
Splenomegaly, Facial hyperostosis, Calvarial hyperostosis, Lymphangioma, Mandibular hyperostosis,... OMIM:176920
Hepatoerythropoietic Porphyria
Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia ORPHA:95159
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... OMIM:301082
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Osteoporosis, Cirrhosis, Neonata... ORPHA:79301
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Arthritis, Lymphadenopathy OMIM:611762
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia OMIM:616576
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Hepatiti... OMIM:615846
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Redundant neck skin, Rhizomelia, Joint hyperflexibility, Severe short-limb dwarfism... ORPHA:1842
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia OMIM:613092
Lathosterolosis
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Intrau... ORPHA:46059
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep... OMIM:606003
Tularemia
Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Cervical l... ORPHA:3392
Distal Renal Tubular Acidosis
Hemolytic anemia, Short stature, Osteomalacia, Rickets, Reduced bone mineral density, Growth dela... ORPHA:18
Pseudo-Torch Syndrome 3
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Increased bone mineral d... OMIM:259720
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Short stature, Anemia, Excessive wrinkled skin, Bone marrow hypoce... ORPHA:3322
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
American Trypanosomiasis
Splenomegaly, Pallor, Lymphadenopathy, Hepatomegaly ORPHA:3386
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Petechiae, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, C... ORPHA:540
Self-Improving Dystrophic Epidermolysis Bullosa
Growth delay, Anemia ORPHA:79411
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Erythema, Cirrhosis, Microcytic anemia ORPHA:79278
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Portal hypertension, Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Galactosemia Iii
Splenomegaly, Jaundice, Hepatomegaly OMIM:230350
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp... OMIM:228000
Fanconi Anemia, Complementation Group R
Growth delay, Bone marrow hypocellularity, Anemia, Radial dysplasia OMIM:617244
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short stature, Thrombocytopenia, Reticulocytopenia, Dry skin, Leukopenia, Rhizomelic arm shorteni... ORPHA:508542
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatosplenomegaly, Hypercholest... OMIM:612526
Shigellosis
Leukocytosis, Peritonitis, Cholestasis, Arthritis, Microangiopathic hemolytic anemia, Splenic abs... ORPHA:810
Kenny-Caffey Syndrome, Type 1
Proportionate short stature, Birth length less than 3rd percentile, Intrauterine growth retardati... OMIM:244460
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... OMIM:617021
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Leuk... ORPHA:20
Fanconi Anemia, Complementation Group I
Short stature, Fused cervical vertebrae, Bone marrow hypocellularity, Pallor, Neutropenia, Intrau... OMIM:609053
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... ORPHA:83469
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:86893
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cholestasis, Anemia, Camptodactyly, Neonatal death, Intrauterine growth retardation... OMIM:608104
Weismann-Netter Syndrome
Abnormal cortical bone morphology, Severe short stature, Anemia ORPHA:3344
Hydatidiform Mole
Anemia ORPHA:99927
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... ORPHA:31150
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum, Anemia OMIM:608068
Bazex Syndrome
Scaling skin, Anemia ORPHA:166113
Copper Deficiency, Familial Benign
Anemia OMIM:121270
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites OMIM:269920
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytop... ORPHA:3260
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Elliptocytosis ORPHA:86818
Dermatitis Herpetiformis
Skin vesicle, Erythema, Recurrent fractures, Microcytic anemia ORPHA:1656
Peripheral Cone Dystrophy
Pallor OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Idiopathic Pulmonary Arterial Hypertension
Chronic hemolytic anemia, Right ventricular hypertrophy ORPHA:275766
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Fractures of the long bones, Abnormality of the lymphatic system,... ORPHA:464329
Diamond-Blackfan Anemia 10
Macrocytic anemia, Short stature, Reticulocytopenia, Growth delay, Steroid-responsive anemia, Anemia OMIM:613309
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Adenohypophysitis
Normochromic anemia, Decreased circulating cortisol level, Pallor ORPHA:95512
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... ORPHA:83471
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Spondylometaphyseal Dysplasia, Axial
Splenomegaly, Rhizomelia, Short stature, Disproportionate short-trunk short stature OMIM:602271
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Growth delay, Iron deficiency anemia, Steatorrhea, Exocrine ... ORPHA:309031
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Short stature, Postnatal growth retardation, Splenomegaly, Os... ORPHA:79240
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Growth delay, Dry skin OMIM:617388
Gaucher Disease Type 2
Splenomegaly, Flexion contracture, Hepatomegaly ORPHA:77260
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids OMIM:619769
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Acanthocytosis, Necrolytic migratory erythema, Intrahepat... ORPHA:97280
Abcd Syndrome
Neonatal death, Polycythemia OMIM:600501
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Short stature, Abnormal erythrocyte enzyme level, Splenomegal... ORPHA:264580
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Neutropenia in presence ... OMIM:615952
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H... OMIM:615122
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Short stature, Recurrent fractures, Enlarged tonsils, Anemia, Leukope... ORPHA:2785
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased hepatic glycogen content OMIM:261750
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Sialidosis Type 2
Hepatomegaly, Short stature, Splenomegaly, Flexion contracture, Osteoporosis, Ascites ORPHA:87876
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hypercholesterolemia OMIM:306000
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Autoimmune hemolytic anemia, Impaired neutrophil ch... OMIM:619374
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Joint stiffness, Flexion contracture, Knee osteoarthritis, Oli... ORPHA:85408
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Diamond-Blackfan Anemia 1
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Persistence o... OMIM:105650
Cronkhite-Canada Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:2930
Propionic Acidemia
Hepatomegaly, Pancytopenia, Short stature, Osteoporosis, Anemia, Neutropenia, Pancreatitis, Throm... OMIM:606054
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia ORPHA:75234
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Anemia OMIM:611489
Hemochromatosis, Type 5
Anemia, Elevated hepatic iron concentration OMIM:615517
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Systemic Lupus Erythematosus
Hemolytic anemia, Lymphadenopathy, Leukopenia, Arthritis, Thrombocytopenia ORPHA:536
Optic Atrophy 1
Pallor OMIM:165500
Griscelli Syndrome
Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymph... ORPHA:381
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B lymphocytopenia ORPHA:397596
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia ORPHA:3405
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Gray Platelet Syndrome
Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Panhypophysitis
Normochromic anemia, Decreased circulating cortisol level, Pallor ORPHA:95513
Hereditary Orotic Aciduria
Splenomegaly, Anemia ORPHA:30
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Joint hypermobility, Pancre... OMIM:617052
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Abnormal T cell subset distributi... ORPHA:158048
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, In... ORPHA:90041
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Short stature, Lymphadenopathy OMIM:607271
Pancreatic Colipase Deficiency
Megaloblastic anemia, Growth delay, Steatorrhea, Cholelithiasis, Exocrine pancreatic insufficiency ORPHA:309108
Acute Promyelocytic Leukemia
Pancytopenia, Petechiae, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Ecchymos... ORPHA:520
Hurler-Scheie Syndrome
Hepatomegaly, Short stature, Abnormality of the tonsils, Splenomegaly, Limitation of joint mobility ORPHA:93476
Pituitary Apoplexy
Normochromic anemia, Increased circulating cortisol level, Pallor ORPHA:95613
3-Methylglutaconic Aciduria, Type V
Normochromic microcytic anemia, Microvesicular hepatic steatosis, Postnatal growth retardation, I... OMIM:610198
Eosinophilic Gastroenteritis
Eosinophilia, Leukocytosis, Steatorrhea, Ascites, Anemia ORPHA:2070
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Growth delay, Iron deficiency anemia, Thrombocytosis, Intestinal lymphangiectasia, ... OMIM:226300
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Intrauterine growth retardation, HbH hemoglobin, Short stature, Prolonged neonatal jaundice ORPHA:423479
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Petechiae, Anemia ORPHA:231111
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, ... OMIM:267700
Roifman Syndrome
Hepatomegaly, Hip contracture, Short stature, Eosinophilia, Postnatal growth retardation, Splenom... OMIM:616651
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Osteoporosis, Abnormality of the l... ORPHA:2169
Neuraminidase Deficiency
Hepatomegaly, Short stature, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymph... OMIM:256550
Pfapa Syndrome
Splenomegaly, Arthritis, Lymphadenopathy, Hepatomegaly ORPHA:42642
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ... ORPHA:536516
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Aceruloplasminemia
Anemia OMIM:604290
Mevalonic Aciduria
Splenomegaly, Short stature ORPHA:29
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Neonatal death, ... OMIM:608013
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Growth delay, Osteopetrosis, Anemia OMIM:612301
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Pallor, Hepatomegaly ORPHA:134
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, Splenomegaly, Growth delay, Bil... OMIM:613027
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis, Anemia ORPHA:324964
Solitary Rectal Ulcer Syndrome
Anemia ORPHA:209964
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Pantothenate Kinase-Associated Neurodegeneration
Osteopenia, Fractures of the long bones, Acanthocytosis ORPHA:157850
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Jaundice, Hepatosplenomegaly, Ane... OMIM:603553
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Alg8-Cdg
Cutis laxa, Anemia, Camptodactyly, Intrauterine growth retardation, Premature skin wrinkling, Asc... ORPHA:79325
Hypophosphatasia, Infantile
Craniosynostosis, Increased susceptibility to fractures, Decreased calvarial ossification, Stillb... OMIM:241500
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Short stature, Elliptocytosis, Joint hypermobility, Anemia OMIM:300990
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Free Sialic Acid Storage Disease
Hepatomegaly, Splenomegaly, Skin ulcer, Reduced bone mineral density, Ascites ORPHA:834
Good Syndrome
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Anemia, Aplasia/Hypoplasia o... ORPHA:169105
Castleman Disease
Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal l... ORPHA:160
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Psor... OMIM:614700
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Spinocerebellar Ataxia, Autosomal Recessive 21
Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly OMIM:616719
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia OMIM:614520
Recon Progeroid Syndrome
Joint laxity, Short stature, Growth delay, Anemia, Scaling skin, Dry skin, Thrombocytopenia OMIM:620370
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Joint hypermobility, Splenomegaly, Cholestasis... OMIM:300972
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Acute leukemia, Thrombocytopenia ORPHA:647
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Growth delay, Skin vesicle, Anemia ORPHA:79410
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Proportionate short stature, Anemia, Intrauterine growth retardation, Dry skin, Pet... OMIM:620331
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Nephronophthisis 4
Growth delay, Anemia OMIM:606966
Sézary Syndrome
Hepatomegaly, Splenomegaly, Dry skin, Lymphadenopathy, Abnormal lymphocyte morphology ORPHA:3162
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Increased s... ORPHA:77261
Fumarase Deficiency
Intrahepatic cholestasis, Ascites, Polycythemia, Pallor OMIM:606812
Sting-Associated Vasculopathy, Infantile-Onset
Follicular hyperplasia, Joint stiffness, Erythema, Paratracheal lymphadenopathy, Leukopenia, Thro... OMIM:615934
Hemochromatosis, Type 2A
Splenomegaly, Arthritis, Cirrhosis, Hepatomegaly OMIM:602390
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Petechiae, Jaundice, Neutrophilia in presence of infection, Lymphad... ORPHA:99826
Congenital Factor Ii Deficiency
Joint hemorrhage, Anemia ORPHA:325
Fanconi Anemia, Complementation Group D2
Pancytopenia, Short stature, Anemic pallor, Annular pancreas, Reticulocytopenia, Anemia, Bone mar... OMIM:227646
Sheehan Syndrome
Normochromic anemia, Dry skin, Decreased circulating cortisol level, Pallor ORPHA:91355
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Adult-Onset Still Disease
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Erythema, He... ORPHA:829
Icf Syndrome
Anemia, Lymphopenia, Short stature, Abnormality of neutrophils ORPHA:2268
Lysinuric Protein Intolerance
Hepatomegaly, Short stature, Recurrent fractures, Splenomegaly, Osteoporosis, Cutis laxa, Anemia,... OMIM:222700
Immunodeficiency 36 With Lymphoproliferation
Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth delay, Increase... OMIM:616005
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Pallor, Septic arthritis, Pancreatitis, Thrombocytopenia ORPHA:544482
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Diamond-Blackfan Anemia 11
Short stature, Anemia of inadequate production, Radioulnar synostosis, Bone marrow hypocellularit... OMIM:614900
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Short stature, Postnatal growth retardation, Osteoporosis, Increased susceptibility t... OMIM:612199
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... OMIM:131300
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pancreatic islet-cell hyperplasia, Pallor ORPHA:276608
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Rheumatoid arthritis, Le... ORPHA:99867
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Mevalonic Aciduria
Normocytic hypoplastic anemia, Short stature, Fluctuating splenomegaly, Fluctuating hepatomegaly,... OMIM:610377
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly ORPHA:276575
Mirage Syndrome
Short stature, Petechiae, Radial club hand, Anemia, Leukopenia, Intrauterine growth retardation, ... OMIM:617053
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Recurrent fractures, Anemia, Hepatomegaly OMIM:239200
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Growth delay, Elevated hepatic iron concentration, Increase... OMIM:614946
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Osteopetrosis, Intrauterine growth retar... OMIM:618541
Relapsing Fever
Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276556
Pachydermoperiostosis
Hepatomegaly, Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis... ORPHA:2796
Fanconi Anemia, Complementation Group S
Short stature, Anemia OMIM:617883
Arteriosclerosis, Severe Juvenile
Short stature, Anemia, Delayed puberty OMIM:208060
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Joint hypermobility, Splenomegaly, Microves... OMIM:619418
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestasis, Lymphadenopathy, Growth del... OMIM:615895
Fanconi Anemia, Complementation Group P
Growth delay, Pancytopenia, Short stature, Anemia OMIM:613951
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly ORPHA:276580
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Nephronophthisis 1
Growth delay, Anemia OMIM:256100
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Splenomegaly, Cholestasis, Growth delay, Cirrhosis, Intrauterine grow... OMIM:614576
Severe Hemophilia A
Limb joint contracture, Limitation of joint mobility, Synovitis, Joint hemorrhage, Anemia ORPHA:169802
Recessive Dystrophic Epidermolysis Bullosa Inversa
Growth delay, Anemia ORPHA:79409
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly OMIM:240500
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Thrombocytopenia, Pancytopenia, Anemia OMIM:613845
Joubert Syndrome 33
Splenomegaly OMIM:617767
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Growth delay, Hypochromic microcytic anemia, Anemia OMIM:619147
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Skin ulcer, Arthritis, ... ORPHA:91138
Hypermanganesemia With Dystonia 1
Hepatomegaly, Polycythemia, Cirrhosis OMIM:613280
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Osteoporosis, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular v... OMIM:127550
Nephronophthisis 11
Growth delay, Hepatic fibrosis, Anemia OMIM:613550
Mccune-Albright Syndrome
Pancytopenia, Osteomalacia, Recurrent fractures, Primary hypercortisolism, Fibrous dysplasia of t... ORPHA:562
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor ORPHA:324575
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:230900
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Abnormal lymphatic vessel morphology, Growth delay, Ascites, Decreased propo... ORPHA:90362
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Short stature, Petechiae, Splenomegaly, Erythema, Prolonged neonatal jaundice, Thro... OMIM:225750
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia ORPHA:90060
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Skin ulcer, Hepatosp... OMIM:615688
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Myopathy With Lactic Acidosis, Hereditary
Anemia, Sideroblastic anemia, Leukopenia OMIM:255125
Lead Poisoning
Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Delayed pubert... ORPHA:330015
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Short stature, Portal hypertension, Ric... OMIM:613658
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Short stature, Abnormal hemoglobin, Joint stiffness, Flexion contracture, Anemia ORPHA:847
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Abse... OMIM:250250
Tangier Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Left ventricular hypertrophy, Dry skin OMIM:205400
Infantile Systemic Hyalinosis
Osteopenia, Severe short stature, Osteomalacia, Recurrent fractures, Camptodactyly of finger, Joi... ORPHA:2176
Immunodeficiency 55
Absent natural killer cells, Short stature, Postnatal growth retardation, Dry skin, Lymphadenopat... OMIM:617827
Multiple Myeloma
Osteopenia, Splenomegaly, Lymphadenopathy, Pathologic fracture, Anemia ORPHA:29073
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Splenomegaly, Periostitis, Osteolysis, Fus... OMIM:612852
Sandifer Syndrome
Anemia ORPHA:71272
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, Lymphopenia, Anemia, Reduced bone mineral density ORPHA:935
Polyendocrine-Polyneuropathy Syndrome
Postnatal growth retardation, Short stature, Elevated hemoglobin A1c OMIM:616113
Attrv122I Amyloidosis
Left ventricular hypertrophy, Anemia, Cardiomegaly ORPHA:85451
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Cyclic Vomiting Syndrome
Growth delay, Pallor OMIM:500007
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrh... OMIM:601847
Anemia, Congenital Dyserythropoietic, Type Iiia
Jaundice, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia OMIM:105600
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopath... ORPHA:379
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Growth delay, Flexion contracture, Anemia OMIM:226600
Stiff-Person Syndrome
Anemia OMIM:184850
Osteootohepatoenteric Syndrome
Recurrent fractures, Microvesicular hepatic steatosis, Cholestasis, Reduced bone mineral density,... OMIM:619377
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Flexion contracture, Anemia, Leukopenia, Macrovesicular hepatic steat... OMIM:617303
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Congenital Enterovirus Infection
Abnormal macrophage morphology, Fetal ascites, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leuk... ORPHA:292
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Autosomal Dominant Kenny-Caffey Syndrome
Short stature, Postnatal growth retardation, Growth delay, Cortical thickening of long bone diaph... ORPHA:93325
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor, Polycythemia ORPHA:892
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Severe short stature, Short stature, Thickened cortex of long bon... OMIM:127000
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly... OMIM:612541
Congenital Pulmonary Lymphangiectasia
Growth delay, Splenomegaly, Ascites, Hepatomegaly ORPHA:2414
Q Fever
Hepatomegaly, Osteomyelitis, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia, Lymphadenopathy... ORPHA:781
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Short stature, Megaloblastic anemia, Anemia, Neutropenia, Thrombocyto... OMIM:277380
Livedoid Vasculopathy
Pancytopenia, Leukocytosis, Skin ulcer, Macular purpura, Ecchymosis, Polycythemia, Anemia ORPHA:542643
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, P... ORPHA:811
Pseudo-Torch Syndrome 1
Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, Petechiae OMIM:251290
Whipple Disease
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Anemia ORPHA:3452
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Ascites, Anemia OMIM:615758
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Joint stiffness, Cardiomegaly, Splenomegaly, Dense calvaria OMIM:252920
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Leukopenia, Bone marrow hypocellularity, Intrauterine growth retard... OMIM:615190
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... OMIM:251880
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Short stature, Recurrent fractures, Abnormality of neutro... ORPHA:1775
Neuroblastoma, Susceptibility To, 1
Abdominal mass, Anemia OMIM:256700
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... ORPHA:760
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Hypophosphatemic rickets, Increased hepa... ORPHA:263455
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, Hyperlipidemia, Delayed puberty, ... OMIM:232220
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Tyrosinemia, Type I
Hepatomegaly, Splenomegaly, Growth delay, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocel... OMIM:276700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Oligoarthritis, Pyoderma gangrenosum, Chronic... ORPHA:3243
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Steatorrhea OMIM:235555
Macrocephaly/Autism Syndrome
Joint laxity, Hepatomegaly, Splenomegaly, Cutis laxa, Lymphopenia OMIM:605309
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Petechiae, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Ane... ORPHA:85450
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... OMIM:243150
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Follicular hyperplasia, Splen... OMIM:619381
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Aredyld Syndrome
Craniofacial hyperostosis, Hepatomegaly, Short stature, Splenomegaly, Intrauterine growth retarda... ORPHA:1133
Rat-Bite Fever
Abdominal aseptic abscess, Lymphadenitis, Oligoarthritis, Arthritis, Scaling skin, Septic arthrit... ORPHA:31205
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Increased T cell count, Bone c... ORPHA:797
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:79292
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251100
Dravet Syndrome
Limited knee extension, Pallor ORPHA:33069
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
Incontinentia Pigmenti
Short stature, Eosinophilia, Leukocytosis, Erythema, Pallor OMIM:308300
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Osteoporosis, Cirrhosis, Hepatocellular carcinoma, Ascites OMIM:235200
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Lymphadenopathy, Sclerosis of skull base, Thrombo... ORPHA:2905
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Juvenile rheumatoid arthritis, Lymphadenopathy, Hepatomegaly ORPHA:85414
Degcags Syndrome
Osteopenia, Hepatomegaly, Pancytopenia, Craniosynostosis, Congenital hypoplastic anemia, Cholesta... OMIM:619488
Congenital Heart Block
Intrauterine growth retardation, Pallor ORPHA:60041
Pediatric-Onset Graves Disease
Hepatomegaly, Craniosynostosis, Splenomegaly, Jaundice, Neutropenia in presence of anti-neutropil... ORPHA:525731
Pancreatic And Cerebellar Agenesis
Joint stiffness, Flexion contracture, Severe intrauterine growth retardation, Pancreatic hypoplas... OMIM:609069
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Short stature, Portal hypertension, Hypersplenism, Splenomegaly, Hepa... OMIM:613385
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Postnatal growth retardation, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, ... OMIM:301040
Fanconi Anemia, Complementation Group F
Short stature, Anemia, Leukopenia, Bone marrow hypocellularity, Intrauterine growth retardation, ... OMIM:603467
Familial Thrombocytosis
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly ORPHA:71493
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Dense calvaria, Joint stiffness, Hepatomegaly OMIM:252900
Neurodegeneration With Brain Iron Accumulation 1
Acanthocytosis OMIM:234200
Carney Triad
Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy ORPHA:139411
Dyskeratosis Congenita, Digenic
Intrauterine growth retardation, Short stature, Anemia OMIM:620040
Gm1-Gangliosidosis, Type I
Hepatomegaly, Severe short stature, Joint stiffness, Splenomegaly, Vacuolated lymphocytes, Intrau... OMIM:230500
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Short stature, Perianal erythema, Splenomegaly, Perioral erythema, Dry skin OMIM:201100
Kabuki Syndrome 1
Hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Postnatal growth retardation, Growt... OMIM:147920
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Short stature, Autoimmune thrombocytopenia, Hyper... ORPHA:77293
Senior-Boichis Syndrome
Portal hypertension, Malformation of the hepatic ductal plate, Congenital hepatic fibrosis, Chole... ORPHA:84081
Gaucher Disease
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Short stature, Recurrent ... ORPHA:355
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Neutropenia ... ORPHA:391487
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Abnormally ossified vertebrae, Intrauterine growth retardation ORPHA:3035
Retinitis Pigmentosa 51
Pallor OMIM:613464
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hepatic steatosis, Hepatomegaly, Short stature, Osteoporosis, Increased susceptibilit... ORPHA:79259
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Erythema, Lymp... ORPHA:50918
Poikiloderma With Neutropenia
Joint laxity, Short stature, Joint stiffness, Splenomegaly, Growth delay, Leukopenia, Neutropenia OMIM:604173
Opsismodysplasia
Hepatomegaly, Abnormally ossified vertebrae, Severe short stature, Joint stiffness, Splenomegaly ORPHA:2746
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Liver abscess, Anemia ORPHA:67
Lymphatic Malformation 7
Ascites, Anemia OMIM:617300
Hurler-Scheie Syndrome
Hepatomegaly, Short stature, Camptodactyly of finger, Joint stiffness, Splenomegaly, Contracture ... OMIM:607015
Infantile Liver Failure Syndrome 3
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepa... OMIM:618641
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Thin bony cortex OMIM:230600
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Erythema, Skin ulcer, Reduced bone mineral density, Dry skin ORPHA:742
Brucellosis
Hepatomegaly, Liver abscess, Osteomyelitis, Hypersplenism, Thrombocytopenia, Leukocytosis, Spleno... ORPHA:1304
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Portal hypertension OMIM:616589
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Joint laxity, Hemolytic anemia, Hyperextensibility of the finger joints, Hip contracture, Portal ... OMIM:619503
Senior-Loken Syndrome 1
Anemia OMIM:266900
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatospleno... OMIM:608233
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Bile Acid Conjugation Defect 1
Hepatomegaly, Jaundice, Rickets OMIM:619232
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly... ORPHA:167
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... OMIM:257220
Nodular Non-Suppurative Panniculitis
Splenomegaly, Erythema, Hepatomegaly ORPHA:33577
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Craniosynostosis, Macronodular c... OMIM:620005
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul... ORPHA:309854
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia, Pancreatitis OMIM:207750
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Hypercholesterolemi... OMIM:238600
Choreoacanthocytosis
Hepatomegaly, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Arthritis ORPHA:2388
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Syndromic Diarrhea
Hepatomegaly, Short stature, Increased mean platelet volume, Splenomegaly, Dry skin, Abnormality ... ORPHA:84064
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... OMIM:233710
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Camurati-Engelmann Disease
Hepatomegaly, Splenomegaly, Craniofacial osteosclerosis, Limitation of joint mobility, Leukopenia... ORPHA:1328
Gastrointestinal Stromal Tumor
Abnormality of the liver, Anemia ORPHA:44890
Scheie Syndrome
Splenomegaly, Limitation of joint mobility, Joint stiffness, Hepatomegaly ORPHA:93474
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Short stature, Osteomalacia, Rickets OMIM:193100
Goodpasture Syndrome
Pallor, Anemia OMIM:233450
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... OMIM:233690
Lysosomal Acid Lipase Deficiency
Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic steatosis, Ja... ORPHA:275761
Juvenile Polyposis Syndrome
Anemia OMIM:174900
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp... OMIM:300755
Blau Syndrome
Camptodactyly of finger, Splenomegaly, Limitation of joint mobility, Erythema, Synovitis, Lymphad... ORPHA:90340
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia, Jaundice, Cholestasis, Hepatosplenomega... ORPHA:247598
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Flexion contracture of finger, Short stature, Camptodactyly of finger, Cardiomegaly... OMIM:602782
Familial Tumoral Calcinosis
Hyperostosis, Splenomegaly, Erythema, Hepatomegaly ORPHA:53715
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Retroperitoneal fibrosis, Osteolysis, Xanthelasma,... ORPHA:35687
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Abnormality of the spleen, Splenomegaly, Skin ulcer, Hepatosplenomegaly, Anemia, Gr... ORPHA:2072
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly OMIM:231005
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Art... OMIM:260920
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... OMIM:600081
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Anemia OMIM:620358
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... OMIM:241530
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Fanconi-Bickel Syndrome
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Rickets, Growth delay, Abnormal hepatic glycogen ... ORPHA:2088
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Severe short stature, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyp... ORPHA:1901
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Gout, Anemia OMIM:174000
Hypophosphatemic Rickets, X-Linked Recessive
Short stature, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Spars... OMIM:300554
Autoimmune Hepatitis
Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosing cholang... ORPHA:2137
Toxic Epidermal Necrolysis
Erythema, Skin ulcer, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:537
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Hepatomegaly, Splenomegaly, Delayed epiphyseal ossification, Disproportionate short... OMIM:602557
Rheumatic Fever
Arthritis, Erythema, Pallor ORPHA:3099
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Splenomegaly, Neutropeni... ORPHA:37042
Senior-Loken Syndrome 8
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation OMIM:616307
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Portal hypertension, Sagittal craniosynostosis, Pancreatic cysts, Splen... OMIM:610199
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... OMIM:607625
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Neutropenia OMIM:617050
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Osteoporosis, Rickets OMIM:560000
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Short stature, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexio... OMIM:301072
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Redundant neck skin, Postnatal growth retardation, Splenomegaly, Pancreatic lymphan... ORPHA:1655
Primary Hyperoxaluria Type 1
Anemia ORPHA:93598
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Short stature, Flexion contracture, Bone cyst, Osteolysis, Anemia ORPHA:3042
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Osteomalacia, Postnatal growth retardation, Delayed epiphyseal ossification, Ricke... ORPHA:289157
Polycythemia Vera
Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu... ORPHA:729
Hypocalcemic Vitamin D-Resistant Rickets
Short stature, Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal bone structure,... ORPHA:93160
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Hypertriglyceridemia, Elevated hem... OMIM:269700
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hepatic steatosis, Pallor ORPHA:348
Axial Osteomalacia
Increased bone mineral density, Polycystic liver disease, Osteomalacia OMIM:109130
Hypophosphatemic Bone Disease
Short stature, Osteomalacia, Rickets OMIM:146350
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy OMIM:616028
Oculocerebrorenal Syndrome Of Lowe
Short stature, Osteomalacia, Recurrent fractures, Joint stiffness, Thrombocytopenia, Skin ulcer, ... ORPHA:534
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Lysinuric Protein Intolerance
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia, Osteoporosis, Hepatosplenom... ORPHA:470
Renal Nutcracker Syndrome
Anemia ORPHA:71273
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Short stature, Osteomalacia, Reduced bone mineral density, Growth delay, Hypophosphatemic rickets... ORPHA:157215
Cystinosis
Short stature, Rickets, Portal hypertension, Delayed puberty ORPHA:213
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Hypertriglyceridemia, Short stature, Camptodactyly of finger, Cardiomegaly, Microcy... OMIM:256040
Mucopolysaccharidosis Type 7
Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling, Ascites ORPHA:584
Trichohepatoenteric Syndrome 1
Hepatomegaly, Short stature, Increased mean platelet volume, Splenomegaly, Abnormality of the pan... OMIM:222470
Myopathy, Mitochondrial, And Ataxia
Growth delay, Short stature, Pallor OMIM:617675
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Polycythemia, Hepatic hemangioma, Pancreatic cysts OMIM:193300
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia OMIM:175780
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... OMIM:264700
Hypercholanemia, Familial 1
Rickets, Steatorrhea OMIM:607748
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Growth delay, Sparse bone trabecul... OMIM:277440
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... OMIM:306400
Fanconi Renotubular Syndrome 2
Osteopenia, Short stature, Recurrent fractures, Osteomalacia, Rickets OMIM:613388
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Increased hepatic echogenici... OMIM:619525
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hyperlipidemia, H... ORPHA:567983
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Short stature, Osteomalacia, Fibrous dysplasia of the bo... ORPHA:249
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Growth delay, Rickets OMIM:602722
Dent Disease 1
Short stature, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Spars... OMIM:300009
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Hepatitis, Hypoplasia of the thymus, Intrauterine growth retardation... ORPHA:436252
Primary Sclerosing Cholangitis
Osteopenia, Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension... ORPHA:171
Prolactinoma
Osteopenia, Osteoporosis, Pallor, Delayed puberty ORPHA:2965
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Arthritis OMIM:249100
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp... ORPHA:731
Hypophosphatemic Rickets, X-Linked Dominant
Short stature, Osteomalacia, Osteoarthritis, Rickets, Hypophosphatemic rickets OMIM:307800
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Leukocytosis, Peritonitis, Erythema, Lymphadenopathy, Arthritis ORPHA:32960
Hardikar Syndrome
Hepatomegaly, Intrahepatic bile duct cysts, Short stature, Cholangitis, Portal hypertension, Hype... OMIM:301068
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Splenomegaly, Hyperlipidemia, Vacuolated lymphocytes, Pancreatitis ORPHA:565612
Fanconi Renotubular Syndrome 3
Growth delay, Short stature, Rickets OMIM:615605
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Xanthelasma, Acholic stoo... ORPHA:30391
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Lack of skin elasticity, In... ORPHA:2671
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Short stature, Osteoporosis, Anemia, Leukopenia, Bone marro... OMIM:305000
Fanconi-Bickel Syndrome
Hepatomegaly, Osteomalacia, Postnatal growth retardation, Intrahepatic cholestasis, Rickets OMIM:227810
Retinitis Pigmentosa 75
Pallor OMIM:617023
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hepatic arteriovenous malformation, Anemia OMIM:175050
Tay-Sachs Disease
Pallor OMIM:272800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Short stature, Rickets OMIM:616026
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Cranial hyperostosis OMIM:612918
Fanconi Renotubular Syndrome 1
Short stature, Osteomalacia, Rickets OMIM:134600
Cystinosis, Nephropathic
Hepatomegaly, Short stature, Splenomegaly, Rickets, Growth delay, Delayed puberty, Hypophosphatem... OMIM:219800
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Osteomyelitis, Short stature, Leukocytosis, Peritonitis, Recurrent tonsil... ORPHA:2968
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Reynolds Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Steatorrhea, Lymphopenia OMIM:613471
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Childhood Absence Epilepsy
Pallor ORPHA:64280
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... OMIM:619991
Familial Mediterranean Fever
Splenomegaly, Peritonitis, Osteoarthritis, Erythema, Lymphadenopathy, Arthritis, Ascites, Pancrea... ORPHA:342
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... ORPHA:289176
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Short stature, Recurrent fractures, Rickets OMIM:268315
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal... OMIM:181000
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Multiple Endocrine Neoplasia Type 2
Joint laxity, Neoplasm of the liver, Cervical lymphadenopathy, Pallor ORPHA:653
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Histiocytoid Cardiomyopathy
Hepatomegaly, Pallor, Cardiomegaly ORPHA:137675
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Dry skin, Hepatomegaly OMIM:612132
Tsh-Secreting Pituitary Adenoma
Osteopenia, Osteoporosis, Pallor, Delayed puberty ORPHA:91347
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Disproportionate short stature, Limitation of joint... ORPHA:89936
Esophageal Atresia
Growth delay, Laryngotracheomalacia, Pallor ORPHA:1199
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Dent Disease
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... ORPHA:1652
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Jaundice, Osteoporosis, Hepatitis, Cholestasis, Rickets, Osteolysis, Jo... ORPHA:198
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Short stature, Rickets OMIM:612089
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Pancreatitis OMIM:600740
Lowe Oculocerebrorenal Syndrome
Short stature, Osteomalacia, Camptodactyly of finger, Hypercholesterolemia, Postnatal growth reta... OMIM:309000
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Growth delay, Extrahepatic portal hypertension, Hepatic arteriovenous m... ORPHA:2929
Telangiectasia, Hereditary Hemorrhagic, Type 2
Anemia, Hepatic arteriovenous malformation, Polycythemia, Cirrhosis OMIM:600376
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Severe short stature, Osteomalacia, Osteoporosis, Rick... ORPHA:2636
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Infantile Nephropathic Cystinosis
Growth delay, Rickets ORPHA:411629
Telangiectasia, Hereditary Hemorrhagic, Type 1
Anemia, Hepatic arteriovenous malformation, Polycythemia, Cirrhosis OMIM:187300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Primary Fanconi Renotubular Syndrome
Growth delay, Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Familial Hypocalciuric Hypercalcemia
Osteomalacia, Pancreatitis ORPHA:405
Generalized Arterial Calcification Of Infancy
Osteomalacia, Cardiomegaly, Hepatic calcification, Abnormal calcification of the carpal bones, Fu... ORPHA:51608
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Pallor, Cardiomegaly 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

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MGI Allele Allele Type Produced
Slc20a1tm55489(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Slc20a1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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