Not currently registered for phenotyping at IMPC

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

Gene Summary

ATP binding cassette subfamily G member 5
cmp,  Sterolin-1,  trac

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Abcg5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Abcg5 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Abcg5 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia OMIM:306000
Glycogen Storage Disease Vi
Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig... OMIM:232700
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency, Increased level of platelet-activating factor OMIM:614278
Bleeding Disorder, Platelet-Type, 24
Menorrhagia, Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, I... OMIM:619271
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Menorrhagia, Epistaxis, Leukocyte inclusion bodies, Myocardial infar... OMIM:155100
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormal bleeding, Hypercholesterolemia,... OMIM:210250
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Epistaxis, Impaired ristocetin-induced platelet aggregation, Gast... OMIM:231200
Thrombocytopenia 7
Reduced platelet dense granules, Post-partum hemorrhage, Impaired ristocetin-induced platelet agg... OMIM:619130
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Bleeding Disorder, Platelet-Type, 16
Petechiae, Anemia, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytopenia, P... OMIM:187800
Lipodystrophy, Familial Partial, Type 5
Abnormal circulating lipid concentration, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis OMIM:615238
Macrothrombocytopenia and progressive sensorineural deafness
Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytope... OMIM:600208
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Ecchymosis, Menorrhagia, Increased mean platelet volume, Gingival bleeding, Petechiae, Stomatocyt... OMIM:153670
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epist... OMIM:173470
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Menorrhagia, Spontaneous, recurrent ... ORPHA:182050
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Thrombo... ORPHA:231393
Fechtner syndrome
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Prolonged bleeding time, Gi... OMIM:153640
Sebastian syndrome
Neutrophil inclusion bodies, Epistaxis, Leukocyte inclusion bodies, Prolonged bleeding time, Gian... OMIM:605249
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Fish-Eye Disease
Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration, Decreased HDL ... OMIM:136120
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... OMIM:173590
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Cirrhosis, Hypercholesterolemia, Hyp... OMIM:605814
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatic failur... ORPHA:75234
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Cryptorchidism, Macrothrombocytopenia, Anemia o... ORPHA:67044
Neutropenia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal platelet granules, Prolonged... ORPHA:238459
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, S... OMIM:607616
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Prolonged bleeding after dental extraction, Thrombo... OMIM:137560
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Von Willebrand Disease, Type 3
Menorrhagia, Joint hemorrhage, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocyto... OMIM:277480
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Thrombocytopenic Purpura, Autoimmune
Abnormal bleeding, Thrombocytopenia OMIM:188030
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hepatic steatosis, Hypertriglyc... OMIM:610717
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia, Bruising susceptibility OMIM:188000
Glanzmann Thrombasthenia 2
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistax... OMIM:619267
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... OMIM:615703
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Spontaneous abortion, Tachycard... ORPHA:71275
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Epistaxis, Splenomegaly, Prolonged bleeding time, Reticulocytosis, Thrombocytopenia, H... OMIM:314050
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Hypertension, Abnormal platelet aggregation, Raynaud phenomenon ORPHA:401945
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat... OMIM:187950
Spastic Paraplegia And Evans Syndrome
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia OMIM:601608
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Decre... OMIM:616829
Gray Platelet Syndrome
Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, E... OMIM:139090
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia... OMIM:613673
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Petechiae, Decreased platelet glycoprotein Ib-IX-V, Hematemesis, ... ORPHA:274
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... OMIM:607765
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Hypertri... OMIM:612526
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Epistaxis, Acute myeloid leukemia, Prolonged bleeding time, Abnor... OMIM:601399
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Ele... OMIM:603471
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decreased mean corp... OMIM:615234
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Splenomegaly, Poikilocytosis, Reticulocytosis, Abnor... ORPHA:288
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Conjug... OMIM:214900
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Epistaxis, Anemia, Spontaneous hematomas, Abnormal bleeding, Macrothrombocytopenia OMIM:616176
Heinz Body Anemias
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia OMIM:140700
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, E... OMIM:109270
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia OMIM:246650
Thrombocytopenia, Cyclic
Abnormal bleeding, Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Lysosomal Acid Lipase Deficiency
Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steatorrhea, Reduced lysosomal acid lipase activ... OMIM:278000
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Menorrhagia, Impaired platelet aggregation OMIM:617443
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin ORPHA:3319
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... OMIM:207750
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Familial Pseudohyperkalemia
Hypertension, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Impaired clot retraction, Epistaxis, Dec... OMIM:273800
Eosinophilia, Familial
Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia OMIM:131400
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185000
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Myocardial infarction, Reticulocytosis, Thrombocytopenia, Arrh... ORPHA:54057
Quebec Platelet Disorder
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Epistaxis, Thro... OMIM:601709
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level OMIM:102730
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Pelger-Huet Anomaly
Ventricular septal defect, Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, T... OMIM:169400
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Gray Platelet Syndrome
Abnormality of thrombocytes, Abnormality of the menstrual cycle, Epistaxis, Splenomegaly, Abnorma... ORPHA:721
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production OMIM:237800
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities
Hypospadias, Abnormal external genitalia, Hepatosplenomegaly, Micropenis, Hemolytic anemia OMIM:600461
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, J... OMIM:603552
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Petechiae, Recurrent cutaneous abscess for... OMIM:619374
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Cholestatic liver disease OMIM:602114
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Hemolytic anemia OMIM:231900
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Glutathione Peroxidase Deficiency
Heinz bodies, Compensated hemolytic anemia OMIM:614164
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Ambiguous genitalia OMIM:209970
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Inc... OMIM:614470
Hermansky-Pudlak Syndrome 6
Epistaxis, Abnormal platelet granules, Prolonged bleeding time, Impaired ADP-induced platelet agg... OMIM:614075
Refractory Anemia
Abnormal cardiac ventricular function, Macrocytic anemia, Normocytic anemia, Neutropenia, Normoch... ORPHA:98826
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Glutathione Synthetase Deficiency
Hemolytic anemia ORPHA:32
Glanzmann Thrombasthenia
Ecchymosis, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistaxis, Menometrorrhagia, I... ORPHA:849
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Preeclampsia/Eclampsia 1
Thrombocytopenia, Hypertension OMIM:189800
Rh-Null, Regulator Type
Stomatocytosis, Hemolytic anemia OMIM:268150
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Essential Thrombocythemia
Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology, Splenomegaly, Myocardi... ORPHA:3318
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Decreased circulat... OMIM:617514
Osteopetrosis, Autosomal Recessive 4
Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:230450
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hypertension OMIM:166990
Combined Oxidative Phosphorylation Deficiency 16
Elevated hepatic transaminase, Microvesicular hepatic steatosis OMIM:615395
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhe... OMIM:209050
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Genital ulcers, Hemolytic anemia, Lymphopenia OMIM:616744
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Acanthocytosis, Epistaxis, Poikilocytosis, Congenital thrombocytopenia, Persistent ble... OMIM:300367
Porphyria, Acute Hepatic
Hemolytic anemia OMIM:612740
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Gingival bleeding, Post-partum hemorrhage, Anemia, Melena, Ani... ORPHA:98870
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Hermansky-Pudlak Syndrome 5
Menorrhagia, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia, Bruising su... OMIM:614074
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Aicardi-Goutieres Syndrome 6
Hemolytic anemia OMIM:615010
Neonatal Lupus Erythematosus
Hemolytic anemia, Dilated cardiomyopathy, Neutropenia, Prolonged QT interval, Abnormal heart morp... ORPHA:398124
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Epistaxis, Impaired collagen-ind... OMIM:619172
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Abnormal bleeding, Thrombocytopenia, Eosinophilia ORPHA:517
Gallbladder Disease 1
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Elevated cir... OMIM:600803
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyc... OMIM:300635
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia, Anemia ORPHA:295
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
Leukopenia, Splenomegaly, Myocardial infarction, Congestive heart failure, Thrombocytopenia, Hemo... ORPHA:108
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Acute leukemia, Bone marrow hypocellularity, Splenomegaly,... ORPHA:3226
Klippel-Trénaunay Syndrome
Abnormality of the menstrual cycle, Abnormal tricuspid valve morphology, Gastrointestinal hemorrh... ORPHA:90308
Bleeding Disorder, Platelet-Type, 8
Ecchymosis, Epistaxis, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Prolonged bl... OMIM:609821
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
Blue Rubber Bleb Nevus
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time ORPHA:1059
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Orotic Aciduria
Ventricular septal defect, Hypochromia, Impaired T cell function, Anisocytosis, Atrial septal def... OMIM:258900
Primary Myelofibrosis
Ecchymosis, Leukocytosis, Thrombocytosis, Petechiae, Anemia, Splenomegaly, Abnormal bleeding, Hep... ORPHA:824
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Subcutaneous hemorrhage ORPHA:1980
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly OMIM:179700
Glut1 Deficiency Syndrome 2
Reticulocytosis OMIM:612126
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea, Elevated circulati... OMIM:613812
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Acute hepatic steatosis, Hepatitis, Macrovesicular hepat... ORPHA:209902
Familial Lambdoid Synostosis
Stomatocytosis ORPHA:3267
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension, Schistocytosis, Microangiopathic hemolytic anemia, Hyperlipidemia, Purpura, Reticul... OMIM:235400
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia OMIM:277460
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia ORPHA:280356
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia OMIM:608600
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia, Epistaxis, Bruising susceptibility OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia, Epistaxis, Bruising susceptibility OMIM:613554
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding, Acute leukemia OMIM:185050
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis ORPHA:79085
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Impaired platelet aggregation, Excessive bleeding from superficial cuts OMIM:618462
Bleeding Disorder, Platelet-Type, 17
Ecchymosis, Petechiae, Epistaxis, Absence of alpha granules, Gastrointestinal hemorrhage, Prolong... OMIM:187900
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Elevated gamma-glutamyltransferase level... OMIM:619662
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosplenom... OMIM:238600
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Splenomegaly, Anemia of inadequate production OMIM:224100
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Abnormal bleeding, Thrombocytopenia... ORPHA:231401
Von Willebrand Disease, Type 1
Menorrhagia, Mitral valve prolapse, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Pro... OMIM:193400
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Pericarditis, Leukopenia OMIM:152700
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... OMIM:616860
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertriglyceridemia, Splenomegaly OMIM:613101
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Steatorrhea OMIM:266510
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Low Phospholipid-Associated Cholelithiasis
Cholangitis, Hepatocellular carcinoma, Sclerosing cholangitis, Biliary tract obstruction, Choleli... ORPHA:69663
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Gingival bleeding, Iron deficie... OMIM:600903
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Cardiomegaly, Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased ... OMIM:618278
Hyperlipoproteinemia, Type Id
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Macrophage Activation Syndrome
Hepatomegaly, Hepatitis, Splenomegaly, Decreased liver function, Elevated circulating aspartate a... ORPHA:158061
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Elevated circulating al... ORPHA:247598
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Aortic regurgitation, Pulmonary hemorrhage, Subc... OMIM:603585
Hemochromatosis, Type 3
Neutropenia, Amenorrhea, Hypogonadotropic hypogonadism, Anemia, Cardiomyopathy, Lymphopenia, Impo... OMIM:604250
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia OMIM:300653
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia OMIM:141000
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatic steatosis, Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Elevated hepatic tr... OMIM:619013
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia OMIM:618660
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Hepatosplenomegaly, Spontaneous hemolytic crises ORPHA:168577
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Petechiae, Hypoplasia of the thymus, Chronic leukemia, A... ORPHA:906
Thrombocytopenia, Anemia ORPHA:673
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Pulmonary arterial hypertension, Anemia, Atrial septal defect, Thrombocytopenia, Cry... OMIM:614857
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration OMIM:616834
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia ORPHA:435651
Reticulocytosis, Hemolytic anemia, Splenomegaly OMIM:618892
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Glycogen Storage Disease Vii
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis OMIM:232800
Chylomicron Retention Disease
Hypocholesterolemia, Increased hepatocellular lipid droplets, Hepatic steatosis, Steatorrhea, Ele... ORPHA:71
Hereditary Spherocytosis
Restrictive cardiomyopathy, Anemia, Splenomegaly, Extramedullary hematopoiesis, Increased mean co... ORPHA:822
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume OMIM:611590
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612690
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia, Decreased testicular size OMIM:601815
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Steatorrhea, Elevated circulating alkaline phosphatase concentration,... OMIM:235555
Hermansky-Pudlak Syndrome 2
Neutropenia, Enlarged platelet dense granules, Reduced natural killer cell activity, Absent plate... OMIM:608233
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:616649
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:616435
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Ecchymosis, Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising sus... OMIM:614009
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hypertension, Asplenia, Coombs-positive hemolytic anemia, Epistaxis, Diffuse alve... OMIM:614034
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Myocardial infarction, Transient ischemic atta... OMIM:274150
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Petechiae, Melena, Decreased circulat... OMIM:301000
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Sideroblastic anemia, Thrombocytopenia, Arrhythmia OMIM:617021
Thrombocytopenia 5
Neutropenia, Petechiae, Epistaxis, Anemia, Thrombocytopenia, Bruising susceptibility OMIM:616216
Sengers Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia OMIM:212350
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Anemia, Hepatosplenomegaly, Atrial septal defect, Thro... ORPHA:101028
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Takenouchi-Kosaki Syndrome
Hypospadias, Increased mean platelet volume, Pulmonic stenosis, Abnormal cardiac septum morpholog... OMIM:616737
Glycogen Storage Disease Iii
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinase concentratio... OMIM:232400
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function, Abnormal mitral valve morphology ORPHA:903
Spherocytosis, Type 4
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili... OMIM:616278
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... ORPHA:369
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatocellular carcinoma, Hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concen... ORPHA:158057
Citrullinemia Type Ii
Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc... ORPHA:247585
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly ORPHA:294
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Thiamine-responsive megaloblastic anemia, Card... OMIM:249270
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, Elliptocytosis OMIM:616959
Hypertrophic cardiomyopathy, Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Splenome... ORPHA:848
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Pancreatitis, Hypertriglyceridemia OMIM:606721
Hemochromatosis, Type 2B
Secondary amenorrhea, Anemia, Cardiomyopathy, Splenomegaly, Hypogonadism, Congestive heart failure OMIM:613313
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cholestasis, Abnormal enzyme/coenzyme activity ORPHA:570422
Autoerythrocyte Sensitization Syndrome
Ecchymosis, Thrombocytosis, Menorrhagia, Intracranial hemorrhage, Impaired platelet adhesion, Joi... ORPHA:324636
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Cardiomyopathy ORPHA:67048
Biliary Atresia, Extrahepatic
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... OMIM:210500
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration ORPHA:713
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Ch... ORPHA:567983
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulating c... ORPHA:370
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia OMIM:615381
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Non-Involuting Congenital Hemangioma
Thrombocytopenia, Telangiectasia of the skin, Congestive heart failure ORPHA:141179
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Micropenis, Cryptorchidism OMIM:615597
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... ORPHA:79301
Catastrophic Antiphospholipid Syndrome
Myocarditis, Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Pulmonary arter... ORPHA:464343
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Petechiae, Prolonged prothrombin time... ORPHA:2330
Spherocytosis, Type 1
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:182900
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly,... ORPHA:231226
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Paroxysmal atrial tachycardia, Megaloblastic anemia, Atrial septal def... ORPHA:49827
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Bleeding Disorder, Platelet-Type, 12
Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Impaired platelet aggregation, Bru... OMIM:605735
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Decreased proportion of marginal zone B ce... OMIM:619375
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Vasculitis OMIM:617718
Wt Limb-Blood Syndrome
Hypoplastic anemia, Leukemia, Pancytopenia, Thrombocytopenia, Cryptorchidism OMIM:194350
Mcleod Syndrome
Dilated cardiomyopathy, Atrial fibrillation, Acanthocytosis, Cardiomyopathy, Hepatosplenomegaly, ... OMIM:300842
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Reticulocy... OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Ascites, Cirrhosis, Cholestasis, Hepatic failure, Elevated hepa... OMIM:617156
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Fanconi-Bickel Syndrome
Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, Abnormal hepatic glyc... ORPHA:2088
Thrombocytopenia 1
Petechiae, Decreased mean platelet volume, Increased circulating IgA level, Joint hemorrhage, Epi... OMIM:313900
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Telangiectasia of the skin, Congestive heart failure ORPHA:141184
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Syndromic Diarrhea
Thrombocytosis, Bicuspid aortic valve, Increased mean platelet volume, Ventricular septal defect,... ORPHA:84064
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hyperuricemia, Cirrhosis, Hepatic steatosis, Hypertrigly... OMIM:604367
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hyperlipidemia, Elevated circulating creatine kinase concentration, Hepatic steatos... ORPHA:435660
Acute Promyelocytic Leukemia
Ecchymosis, Leukocytosis, Neutropenia, Gingival bleeding, Leukopenia, Petechiae, Epistaxis, Anemi... ORPHA:520
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Anemia, Acute myeloid leukemia, Thrombocytopenia, Hypopl... OMIM:619151
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Hyperlipidemia, Splenomegaly, Cirrhosis,... ORPHA:1414
Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Hemolytic anemia, Arrhythmia, Abnormal leukocyte morphology ORPHA:98375
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Abnormal bleeding OMIM:314000
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia ORPHA:363400
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia OMIM:598500
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis, Abnormality of neutrophils ORPHA:111
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Anemia, Cardiomyopathy, Splenomegaly, Thrombocytopenia ORPHA:79312
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Decreased circulating antibody level, Autoimmune hemolytic anemia OMIM:616576
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Abnormal bleeding, Increased ci... ORPHA:507
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia, Hydrocele testis OMIM:616738
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Anemia, Cardiomyopathy, Thrombocytopenia ORPHA:27
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:308230
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Reduced natural killer cell activity, Decreased circulating antibody level, Decrease... OMIM:308240
Congenital Toxoplasmosis
Cardiomegaly, Thrombocytopenia, Anemia ORPHA:858
Idiopathic Aplastic Anemia
Ecchymosis, Neutropenia, Gingival bleeding, Epistaxis, Anemia, Bone marrow hypocellularity, Retic... ORPHA:88
Galactosemia I
Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism OMIM:230400
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, H... ORPHA:412
Lymphoproliferative Syndrome 1
Pericardial effusion, Leukopenia, Decreased circulating IgG level, Decreased circulating antibody... OMIM:613011
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia, Epistaxis, Petechiae OMIM:273900
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocytosis, Ambiguous ge... OMIM:607330
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Azoospermia, Anemia, Hypogonadism, Hepatosplenomegaly, Dysplastic erythropoe... ORPHA:300298
Relapsing Fever
Leukocytosis, Leukopenia, Prolonged prothrombin time, Epistaxis, Anemia, Tachycardia, Neutrophili... ORPHA:91547
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Abnormal liver function tests during pregnancy, Intrahepatic chole... OMIM:147480
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis OMIM:141700
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly OMIM:618398
Hemochromatosis, Type 4
Arrhythmia, Anemia, Cardiomyopathy, Impotence OMIM:606069
Noonan Syndrome 12
Ventricular septal defect, Supravalvular aortic stenosis, Tetralogy of Fallot, Lymphopenia, Throm... OMIM:618624
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Eleva... OMIM:301045
Disorder Of Bile Acid Synthesis
Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis, Abnormality of the liver ORPHA:79168
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Cirrhosis, Elevated circulating aspartate aminotransferase concentration... ORPHA:79302
Mixed Connective Tissue Disease
Myocarditis, Pericarditis, Leukopenia, Pulmonary arterial hypertension, Splenomegaly, Gastrointes... ORPHA:809
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... OMIM:255120
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Cholestasis, Hepatic failure, Elevated hepatic transaminase, Jaundice OMIM:618528
Bleeding Disorder, Platelet-Type, 11
Ecchymosis, Menorrhagia, Epistaxis, Prolonged bleeding time, Bruising susceptibility OMIM:614201
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Elevated circulating creatine kinase concentrati... ORPHA:264580
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Macrovesicular hepatic steato... OMIM:613070
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... OMIM:214950
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Abnormal vagina morphology, Anemia ORPHA:2123
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Increased total bilirubin, Elevated hepatic transaminase, Jaundice ORPHA:890
Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Abnormal h... ORPHA:79329
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Increased circulating IgE level, Autoimmun... OMIM:304790
Trichohepatoenteric Syndrome 1
Hypospadias, Thrombocytosis, Ventricular septal defect, Increased mean platelet volume, Aortic re... OMIM:222470
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Hemolytic Anemia, Congenital, X-Linked
Hemolytic anemia OMIM:301015
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei OMIM:229100
Tufted Angioma
Thrombocytopenia, Anemia, Purpura, Petechiae ORPHA:1063
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Increased L... OMIM:267700
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased red cell hemolysis by shear stress, Splenomegaly, Exercise-induced hemolysis, Increased... OMIM:194380
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Chronic hemolytic anemia, Splenomegaly OMIM:266200
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell activity, Anemia, Splenomegaly, Reduced natural killer cell count, Pa... OMIM:616050
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Elevated circulating creatine kinase co... ORPHA:79240
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:618620
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Folate Malabsorption, Hereditary
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia OMIM:229050
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, Folate-respons... OMIM:601775
Diamond-Blackfan Anemia 5
Hypospadias, Macrocytic anemia, Ventricular septal defect, Leukopenia, Erythroid hypoplasia, Reti... OMIM:612528
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Fulminant hepatitis, Hepatic failure, Elevated hepatic transaminase, Jaundice OMIM:618549
Rhabdoid Tumor
Thrombocytopenia, Internal hemorrhage, Anemia, Hypertension ORPHA:69077
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Cholelithiasis OMIM:300752
Hypertension, Elevated diastolic blood pressure, Polycystic ovaries, Elevated systolic blood pres... ORPHA:275555
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... OMIM:133100
Lig4 Syndrome
Telangiectasia, Amenorrhea, Micropenis, Pancytopenia, Thrombocytopenia, Cryptorchidism OMIM:606593
8P11.2 Deletion Syndrome
Hemolytic anemia, Mitral valve prolapse, Hypoplasia of penis, Azoospermia, Hypogonadotropic hypog... ORPHA:251066
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Abnormal platelet functio... ORPHA:167
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormal lymphocyte morphology, Anemia, Thrombocytopenia, ... ORPHA:229717
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Cryptorchidism, Prolonged bleeding time, Pulmonic stenosis ORPHA:638
Hermansky-Pudlak Syndrome 8
Menorrhagia, Gingival bleeding, Epistaxis, Abnormal bleeding, Impaired platelet aggregation, Brui... OMIM:614077
Sickle Cell Anemia
Leukocytosis, Hypertension, Priapism, Cardiomegaly, Splenomegaly, Increased red cell sickling ten... OMIM:603903
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Erythroid hypoplasia, Atrial septal defect, Reticulocytopenia OMIM:612527
Congenital Disorder Of Glycosylation, Type Ih
Abnormal heart morphology, Anemia, Abnormal cardiac septum morphology, Thrombocytopenia, Cryptorc... OMIM:608104
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Congenital Generalized Lipodystrophy
Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypercholesterolemia, Hypertriglyceridemia, Increased... ORPHA:528
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Vasculitis, Splenomegaly OMIM:615846
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:615895
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Hellp Syndrome
Cerebral hemorrhage, Microangiopathic hemolytic anemia, Prolonged prothrombin time, Internal hemo... ORPHA:244242
Isovaleric Acidemia
Leukopenia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage OMIM:243500
Hermansky-Pudlak Syndrome 7
Abnormal bleeding, Epistaxis, Impaired platelet aggregation, Bruising susceptibility OMIM:614076
Specific Granule Deficiency 2
Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules OMIM:617475
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... ORPHA:650
Familial Chylomicronemia Syndrome
Hyperlipidemia, Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Acute pancreatitis... ORPHA:444490
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Card... OMIM:602390
Immune Thrombocytopenia
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... ORPHA:3002
Refractory Anemia With Excess Blasts
Leukocytosis, Retinal hemorrhage, Palpitations, Abnormal mean corpuscular volume, Bone marrow hyp... ORPHA:86839
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Galactosemia Iii
Jaundice, Hepatomegaly, Hypergalactosemia, Splenomegaly OMIM:230350
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia... ORPHA:567548
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormality of neutrophils ORPHA:154
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Pyropoikilocytosis, Hereditary
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis OMIM:266140
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia OMIM:612926
Congenital Erythropoietic Porphyria
Erythroid hyperplasia, Leukopenia, Splenomegaly, Abnormal bleeding, Anisocytosis, Poikilocytosis,... ORPHA:79277
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Transient hyperlipidemia, Hepatic failure ORPHA:156
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Mitral regurgitation, Hypoplasia of the thymus, Pulmonary a... OMIM:612541
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Hypertension, Schistocytosis, Microangiopathic hemolytic anemia, Myocardial infarct... ORPHA:90038
Acute Erythroid Leukemia
Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia, Pancytopenia ORPHA:318
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Increased circulating antibody level OMIM:618048
Congenital Enterovirus Infection
Myocarditis, Leukocytosis, Neutropenia, Pericardial effusion, Leukopenia, Anemia, Cardiomyopathy,... ORPHA:292
Marburg Hemorrhagic Fever
Petechiae, Neutrophilia in presence of infection, Prolonged prothrombin time, Excessive bleeding ... ORPHA:99826
Paroxysmal Nocturnal Hemoglobinuria
Hypertension, Leukopenia, Erythroid hyperplasia, Budd-Chiari syndrome, Anemia, Myocardial infarct... ORPHA:447
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Fanconi Anemia, Complementation Group A
Neutropenia, Leukemia, Abnormal heart morphology, Anemia, Male infertility, Reticulocytopenia, Hy... OMIM:227650
Glycerol Kinase Deficiency
Hypertriglyceridemia OMIM:307030
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Petechiae, Prolonged QTc interval, Anemia, Thrombocytopenia ORPHA:231111
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Cholelithiasis, Elevated circulating alkaline phosphatase concentration, Intrahepat... OMIM:605479
Congenital Rubella Syndrome
Ventricular septal defect, Anemia, Splenomegaly, Atrial septal defect, Thrombocytopenia ORPHA:290
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Decreased liver function, Cholestatic liver disease, Increased circul... ORPHA:540
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Bone marrow hypocellularity, Erythroid ... ORPHA:101096
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia OMIM:247800
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis... ORPHA:131
Acanthocytosis, Prolonged prothrombin time, Hypocholesterolemia, Anemia, Cardiomegaly, Reticulocy... ORPHA:14
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Squalene Synthase Deficiency
Hypocholesterolemia, Decreased LDL cholesterol concentration, Increased circulating farnesol conc... OMIM:618156
Factor V Deficiency
Menorrhagia, Prolonged prothrombin time, Epistaxis, Prolonged bleeding time, Abnormal bleeding, B... OMIM:227400
Anemia, Autoimmune Hemolytic
Autoimmune hemolytic anemia OMIM:205700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Decreased circulating IgA level, Decreased specific anti-pol... OMIM:606367
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration
Acanthocytosis OMIM:607236
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Increased circula... OMIM:619220
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Benign Recurrent Intrahepatic Cholestasis
Acholic stools, Hepatocellular carcinoma, Cholelithiasis, Pancreatitis, Cholestatic liver disease... ORPHA:65682
Elliptocytosis 3
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis OMIM:617948
Spherocytosis, Type 3
Hemolytic anemia, Spherocytosis OMIM:270970
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis OMIM:615558
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... OMIM:616084
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Increased mean platelet volume, Total anomalous pulmonary venous return, Abnormal he... ORPHA:487796
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Hepatomegaly OMIM:618810
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Splenomegaly OMIM:608885
Cold Agglutinin Disease
Hemolytic anemia, Splenomegaly ORPHA:56425
Wolfram Syndrome 1
Testicular atrophy, Megaloblastic anemia, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia OMIM:222300
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxidative burst, Lymphopeni... OMIM:618935
Sea-Blue Histiocytosis
Petechiae, Splenomegaly, Abnormal bleeding, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Abnormal circulating creatine kinase concentration, Micronodular cirrhosis, Hepatic... ORPHA:98907
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:169090
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Hyperalaninemia, Left ventricular hypertrophy, Hep... OMIM:619048
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Nonspherocytic hemolytic... OMIM:613470
Brain abscess, Leukocytosis, Anemia, Tachycardia, Increased circulating antibody level, Thrombocy... ORPHA:3392
Stormorken Syndrome
Asplenia, Epistaxis, Anemia, Howell-Jolly bodies, Abnormal bleeding, Thrombocytopenia OMIM:185070
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Increased total bilirubin, Splenomegaly, Increased c... OMIM:603553
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Hypertension, Anemia, Cardiomegaly, Congenital thrombocytopenia OMIM:618886
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Thrombocytopenia, In... ORPHA:49566
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Thrombocytopenia, Myocardial fibrosis, Portal hy... ORPHA:210136
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Arrhythmia ORPHA:57
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Reticular Dysgenesis
Decreased circulating antibody level, Anemia, Abnormality of neutrophils, Leukopenia ORPHA:33355
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000