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Gene: Gata1 MGI:95661

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

GATA binding protein 1

Synonyms:

Gata-1, Gf-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 Gata1 mutations

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

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

Human diseases associated with Gata1 (9 diseases)
Human diseases predicted to be associated with Gata1 (1287 diseases)

The table below shows human diseases associated to Gata1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Abnormal megakaryocyte morp...	ORPHA:67044
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Abnormal granulocytopoietic cell morphology, Elliptocytosis, Bon...	OMIM:300835
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys...	ORPHA:79277
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124

The table below shows human diseases predicted to be associated to Gata1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Dermatitis Herpetiformis, Familial	Pruritus	OMIM:601230
Pruritus, Hereditary Localized	Pruritus	OMIM:177100
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Essential Thrombocythemia	Myelofibrosis, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology, Acute leu...	ORPHA:3318
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania...	OMIM:231095
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Lichen Amyloidosis	Pruritus	ORPHA:49804
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ...	ORPHA:86843
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Gray Platelet Syndrome	Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,...	OMIM:139090
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos...	OMIM:612840
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia	ORPHA:46532
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Abnormal megakaryocyte morp...	ORPHA:67044
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Primary Myelofibrosis	Bone marrow hypercellularity, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hy...	ORPHA:824
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Thrombocytopenia 6	Myelofibrosis, Bone marrow hypercellularity, Osteoporosis, Thrombocytopenia	OMIM:616937
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent respiratory infections	OMIM:615615
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Castleman Disease	Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal l...	ORPHA:160
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
C1Q Deficiency 3	Discoid lupus rash, Antinuclear antibody positivity	OMIM:620322
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Asthma, Recurrent pneum...	OMIM:617585
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio...	OMIM:615897
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Immunodeficiency 50	Recurrent respiratory infections, Lymphopenia, Neutropenia, Decreased circulating antibody level	OMIM:300988
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Abnormal number of granulocyte precursors, Neutropenia, Erythroid hyperplasia,...	ORPHA:75564
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Myelofibrosis	Myelofibrosis, Splenomegaly, Myeloproliferative disorder	OMIM:254450
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Nephronophthisis	Anemia	ORPHA:655
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia	OMIM:615085
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre...	OMIM:619773
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia	ORPHA:1802
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Systemic Lupus Erythematosus 16	Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib...	OMIM:614420
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
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Abn...	ORPHA:100024
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Abnormal granulocytopoietic cell morphology, Elliptocytosis, Bon...	OMIM:300835
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Eosinoph...	ORPHA:3260
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro...	OMIM:300751
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly,...	OMIM:611490
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia	OMIM:613606
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu...	ORPHA:729
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Splenom...	OMIM:259720
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Congenital Atransferrinemia	Abnormality of the pancreas, Anemia, Arthritis	ORPHA:1195
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia	OMIM:616604
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Thrombocytopenia	OMIM:189800
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Plasmacytosis, Increased circulating antibody level, Lymp...	OMIM:247800
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Reduced bone miner...	ORPHA:848
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Anemia, Increased mean corpuscular...	OMIM:619041
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones	ORPHA:53697
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, De...	OMIM:617021
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom...	ORPHA:210110
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Fetal Parvovirus Syndrome	Thrombocytopenia, Ascites, Anemia	ORPHA:295
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia	OMIM:613101
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri...	ORPHA:37748
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Asc...	ORPHA:858
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Granulocytic hyperplasia, Anemia, Impaire...	OMIM:226990
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Autoimmunity	OMIM:216950
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Limitation of joint mobility, Leukopenia,...	ORPHA:108
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Fibrodysplasia Ossificans Progressiva	Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic ossification in mu...	ORPHA:337
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron	OMIM:603358
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia	ORPHA:318
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp...	ORPHA:98870
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O...	ORPHA:98850
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea...	ORPHA:300298
Rosaï-Dorfman Disease	Osteolysis, Anemia, Lymphadenopathy	ORPHA:158014
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat...	OMIM:614727
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Anemia	OMIM:618107
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th...	ORPHA:158057
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Hyperlysinemia, Type I	Anemia	OMIM:238700
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Bone marrow maturation arrest, Anemia, Neutropen...	OMIM:617475
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th...	ORPHA:229717
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:613011
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Wt Limb-Blood Syndrome	Pancytopenia, Radioulnar synostosis, Joint contracture of the 5th finger, Leukemia, Hypoplastic a...	OMIM:194350
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Transaldolase Deficiency	Thrombocytopenia, Cirrhosis, Anemia, Hepatosplenomegaly	ORPHA:101028
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Stillbi...	ORPHA:85212
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:618116
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Agammaglobulinemia, Neutropenia, Reduced natural killer cell co...	OMIM:615214
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomega...	ORPHA:77259
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Bone marrow hypercellularity, Macrocytic anemia, Megakaryocyte nucleus hy...	ORPHA:86841
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Decreased calvarial ossification, C...	ORPHA:313855
Felty Syndrome	Hepatomegaly, Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Lymphadenopathy,...	ORPHA:47612
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite...	OMIM:616738
X-Linked Sideroblastic Anemia	Splenomegaly, Pallor, Anemia	ORPHA:75563
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Sple...	OMIM:259700
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:619151
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype...	OMIM:612714
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Bronchiectasis, B...	OMIM:615518
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl...	ORPHA:398124
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Abnormality of thrombocytes, Anemia	ORPHA:3204
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat...	ORPHA:158061
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Ascites, Anemia, Hepatomegaly	ORPHA:2123
Transcobalamin Deficiency	Pancytopenia, Megaloblastic bone marrow, Neutropenia, Lymphopenia, Thrombocytopenia	ORPHA:859
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:289916
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Rhabdoid Tumor	Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Immunodeficiency 104	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly	OMIM:608971
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Recurrent respir...	OMIM:618986
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ...	OMIM:619924
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia	ORPHA:163596
Immunodeficiency 21	Megakaryocyte nucleus hypolobulation, Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutrope...	OMIM:614172
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis	ORPHA:79099
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant...	ORPHA:90283
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Stuve-Wiedemann Syndrome 2	Neonatal death, Stillbirth, Thrombocytopenia, Camptodactyly	OMIM:619751
Tufted Angioma	Anemia, Megakaryocytopenia, Thrombocytopenia	ORPHA:1063
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Bone marrow hypercellulari...	ORPHA:98849
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia	OMIM:616084
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Reduced bone mine...	ORPHA:172
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia	ORPHA:27
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ...	OMIM:150550
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia	ORPHA:290
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Neutropenia	ORPHA:90023
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia, Abnormal pleura morphology	ORPHA:2582
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Osteopenia, Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellulari...	OMIM:614742
Tularemia	Brain abscess, Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal adenoid morphol...	ORPHA:3392
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Anemia	OMIM:610090
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Joint stiffness, Splenomegaly, Reduced bone mineral density, Leukopenia, Lymphopeni...	OMIM:620210
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ...	OMIM:274150
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Hemochromatosis, Type 3	Elevated hepatic transaminase, Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia	OMIM:604250
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He...	ORPHA:210136
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Thrombocyto...	OMIM:230800
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis	OMIM:268150
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent streptococcus pneumoniae infections, Neutropenia	ORPHA:70592
Hypobetalipoproteinemia, Familial, 1	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:615558
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis	OMIM:608885
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Septic ar...	OMIM:617780
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Alopecia Areata 1	Autoimmunity	OMIM:104000
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Recurrent upper respiratory tract infections, Pneumonia, Abnormally low T cell...	OMIM:618806
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Short Stature With Microcephaly And Distinctive Facies	Osteopenia, Anisopoikilocytosis, Anemia	OMIM:615789
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD...	OMIM:619846
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reticulocytopenia, Lymp...	ORPHA:101096
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Megaloblastic anemia, Pallor, Atrial septal defect, Thrombocytopenia	ORPHA:49827
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia	OMIM:618660
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Recurrent pneumonia, Decreased circulating total IgM, Monocytosis, B ...	OMIM:619281
Ollier Disease	Lymphangioma, Osteolysis, Anemia, Joint stiffness	ORPHA:296
Pyruvate Kinase Deficiency Of Red Cells	Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel...	ORPHA:98848
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower...	ORPHA:882
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Potocki-Shaffer Syndrome	Decreased skull ossification, Anemia	ORPHA:52022
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Arthritis, Coombs-...	OMIM:304790
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia	OMIM:620184
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P...	OMIM:301082
Propionic Acidemia	Hepatomegaly, Pancytopenia, Osteoporosis, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	OMIM:606054
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep...	OMIM:606003
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys...	ORPHA:79277
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Knee flexion cont...	OMIM:604416
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis	ORPHA:33574
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Thrombocytopenia	ORPHA:67048
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, O...	ORPHA:79301
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
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
Majeed Syndrome	Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl...	OMIM:609628
Chylomicron Retention Disease	Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hepatic steatosis, Acanth...	ORPHA:71
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan...	ORPHA:54251
Immunodeficiency 91 And Hyperinflammation	Megakaryocytopenia, Hepatomegaly, Acute hepatic failure, Neutrophilia, Elevated hepatic transamin...	OMIM:619644
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Anemia	ORPHA:1046
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron	ORPHA:446
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia, Arthritis	OMIM:152700
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Elevated circulating C-reactive prote...	ORPHA:1302
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Osteomyelitis, Abnormality of the tonsils, Abnormality of ...	ORPHA:47
Hjv Or Hamp-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro...	ORPHA:79230
Linear Iga Dermatosis	Pruritus, Autoimmunity	ORPHA:46488
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Hypertrophic cardiomyopathy, Pallor	OMIM:613561
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cho...	ORPHA:540
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Hepatomegaly	ORPHA:2204
Preeclampsia	Elevated hepatic transaminase, Abnormality of the hepatic vasculature, Thrombocytopenia	ORPHA:275555
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cholestasis, Anemia, Decreased liver function, Camptodactyly, Neonatal death, Ascit...	OMIM:608104
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Flexion contracture, Lymphadenopathy, ...	OMIM:617591
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Reticular Dysgenesis	Anemia, Leukopenia, Aplasia/Hypoplasia of the thymus, Abnormality of neutrophils	ORPHA:33355
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Evans Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:1959
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d...	ORPHA:158048
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis...	ORPHA:1451
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis	OMIM:231100
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Developmental And Epileptic Encephalopathy 50	Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis	OMIM:616457
Aicardi-Goutieres Syndrome 5	Flexion contracture, Thrombocytopenia	OMIM:612952
Amyloidosis, Primary Localized Cutaneous, 2	Pruritus	OMIM:613955
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, Anemia	OMIM:607115
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Fractures of the long bones, Abnormality of the lymphatic system,...	ORPHA:464329
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thromboc...	ORPHA:91547
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Anemia...	OMIM:170100
Hemochromatosis, Type 4	Hepatomegaly, Osteoarthritis, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Isovaleric Acidemia	Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Bone cyst, Anemia	ORPHA:2668
Zinc Deficiency, Transient Neonatal	Decreased serum zinc	OMIM:608118
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Sengers Syndrome	Osteopenia, Thrombocytopenia	OMIM:212350
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splen...	ORPHA:77297
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Flexion contracture, Elbow flexion contracture, Poikilocytosis...	OMIM:618947
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Osteoporosis, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular v...	OMIM:127550
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia	ORPHA:28
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Thr...	ORPHA:263501
Proteus Syndrome	Splenomegaly, Facial hyperostosis, Calvarial hyperostosis, Lymphangioma, Mandibular hyperostosis,...	OMIM:176920
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:269920
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Acute Promyelocytic Leukemia	Bone marrow hypercellularity, Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Ne...	ORPHA:520
8P11.2 Deletion Syndrome	Splenomegaly, Hemolytic anemia, Spherocytosis	ORPHA:251066
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st...	OMIM:615438
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia	OMIM:614520
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor	OMIM:611590
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Persistence of...	OMIM:260400
Hereditary Cryohydrocytosis With Reduced Stomatin	Jaundice, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly	ORPHA:168577
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti...	ORPHA:2686
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Subacute Cutaneous Lupus Erythematosus	Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit...	ORPHA:163525
Pneumocystosis	Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Abnormal neutrophil...	ORPHA:723
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Amme Complex	Elliptocytosis, Joint hypermobility	OMIM:300194
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:614480
Subcorneal Pustular Dermatosis	Autoimmunity, Pruritus, Pustule, Systemic lupus erythematosus, Rheumatoid arthritis	ORPHA:48377
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati...	ORPHA:46059
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice...	OMIM:214500
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia	ORPHA:2598
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Sp...	OMIM:228000
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Recurrent fractures, Enlarged tonsils, Anemia, Leukopenia, Elliptocyt...	ORPHA:2785
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:603553
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Braddock-Carey Syndrome 2	Megakaryocytopenia, Thrombocytopenia	OMIM:619981
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ...	ORPHA:169154
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Acute Monoblastic/Monocytic Leukemia	Bone marrow hypercellularity, Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, A...	ORPHA:514
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Asthma, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, Recurr...	OMIM:619752
Immunodeficiency 43	Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa...	OMIM:241600
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Anemia	ORPHA:2325
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Abnormal bone marrow cell morphology, Lymphadenopathy, Hepatomegaly	ORPHA:86893
Tempi Syndrome	Ascites, Increased hematocrit, Polycythemia	ORPHA:284227
Galactosemia Iii	Splenomegaly, Jaundice, Hepatomegaly	OMIM:230350
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat...	ORPHA:36238
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Hepatic fibrosis, Bone marrow hypocellul...	OMIM:613989
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Lymphadenopathy, Abnormal bone marrow cell morphology, Abnormal lymph...	ORPHA:2584
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro...	OMIM:267700
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly, Acanthocy...	ORPHA:14
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leuk...	ORPHA:292
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Orthostatic Hypotension 2	Anemia	OMIM:618182
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Joint hypermobi...	OMIM:300972
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia	OMIM:251110
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Perianal abscess, Bronchiectasis, Decreased circulating antibod...	OMIM:618108
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia	OMIM:612301
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Recurrent respiratory infections, Decreased circulating total IgM, T lymphocytopenia...	OMIM:619510
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen...	ORPHA:2688
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility	ORPHA:166277
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa...	ORPHA:90038
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Boutonneuse Fever	Elevated hepatic transaminase, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocyto...	ORPHA:83313
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Optic Atrophy 1	Pallor	OMIM:165500
Lesch-Nyhan Syndrome	Gout, Anemia	ORPHA:510
Coach Syndrome 3	Portal fibrosis, Anemia	OMIM:619113
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Cirrhosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia	ORPHA:3322
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia	ORPHA:3240
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuati...	OMIM:610377
Hypophosphatasia	Craniosynostosis, Recurrent fractures, Anemia	ORPHA:436
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Maternal Uniparental Disomy Of Chromosome 4	Abnormal erythrocyte morphology, Acanthocytosis	ORPHA:96180
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Pemphigus Erythematosus	Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Arthritis, Lymphadenopathy	OMIM:611762
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia	OMIM:620366
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Sinusitis, Increased circulating IgE level, Recurrent pneumonia, Recurrent upper respiratory trac...	ORPHA:277
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic ...	OMIM:616005
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Leukopenia, Thrombocytopenia, Pancytopenia, Anemia	OMIM:613845
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Eosinophilopenia	Autoimmunity	OMIM:131430
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Pancreatic steatosis,...	OMIM:617052
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H...	OMIM:615122
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Pulmonary fib...	OMIM:619767
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro...	OMIM:600462
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Flexion contracture, Anemia, Leukopenia, Macrovesicular hepatic steat...	OMIM:617303
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Flexion contracture, Osteoporosis, Abnormal bone marrow cell morpholo...	ORPHA:87876
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Joint contracture, Flexion contracture, Hepatomegaly	OMIM:608540
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Flexion contractu...	ORPHA:333
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Decreased circula...	OMIM:618394
Acquired Ichthyosis	Pruritus, Recurrent skin infections, Autoimmunity	ORPHA:454
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Mirage Syndrome	Radial club hand, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Anemia, Aplasia/Hypoplasia o...	ORPHA:169105
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Increased s...	ORPHA:77261
Immunodeficiency With Hyper-Igm, Type 3	Increased circulating IgM level, Decreased circulating IgE, Neutropenia, Decreased circulating Ig...	OMIM:606843
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Cholelithiasis, J...	OMIM:263700
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc...	OMIM:614946
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
Vexas Syndrome	Arthritis, Macrocytic anemia, Megakaryocyte dysplasia, Thrombocytopenia	OMIM:301054
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Pathologic fracture, Thrombocytopenia	OMIM:112200
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Fractures of the long bones, Acanthocytosis	ORPHA:157850
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:1525
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia	OMIM:301015
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto...	OMIM:614700
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Limitation of joint mobility, Anemia	ORPHA:1192
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:90060
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Epiphys...	OMIM:256550
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, P...	ORPHA:811
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Megakaryocyte dysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone...	ORPHA:508542
Lysinuric Protein Intolerance	Hepatomegaly, Recurrent fractures, Splenomegaly, Osteoporosis, Anemia, Leukopenia, Hemophagocytos...	OMIM:222700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Gout, Anemia, Neutropenia	OMIM:617056
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocy...	OMIM:242900
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Pallor	ORPHA:90037
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
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
Oslam Syndrome	Radioulnar synostosis, Anemia	OMIM:165660
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Idiopathic Copper-Associated Cirrhosis	Increased circulating copper concentration, Decreased circulating ceruloplasmin concentration	ORPHA:209919
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Muckle-Wells Syndrome	Hepatomegaly, Camptodactyly of finger, Splenomegaly, Arthritis, Anemia	ORPHA:575
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Hepatic failure, Neonatal d...	OMIM:608013
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Stillbirth	OMIM:152800
Alg8-Cdg	Elevated hepatic transaminase, Anemia, Camptodactyly, Ascites, Thrombocytopenia	ORPHA:79325
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Hypothyroidism, Congenital, Nongoitrous, 6	Anemia	OMIM:614450
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Cholestasis, Cirrhosis, ...	OMIM:614576
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B lymphocytopenia	ORPHA:397596
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Craniosynostosis, Splenomegaly, Jaundice, Neutropeni...	ORPHA:525731
Insulin Autoimmune Syndrome	Autoimmune antibody positivity, Autoimmunity, Systemic lupus erythematosus	ORPHA:411593
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Gaucher Disease Type 2	Splenomegaly, Flexion contracture, Hepatomegaly	ORPHA:77260
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia	OMIM:251100
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:277380
Coproporphyria, Hereditary	Splenomegaly, Jaundice, Hepatomegaly	OMIM:121300
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop...	OMIM:612541
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Leukopenia, Neutropenia, Pancreatitis, Thrombocytopenia	OMIM:251000
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Cardiomegaly	OMIM:620135
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Pyle Disease	Limited elbow extension, Thin bony cortex, Reduced bone mineral density	OMIM:265900
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Weismann-Netter Syndrome	Abnormal cortical bone morphology, Anemia	ORPHA:3344
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Osteoporosis, Hepatic fibrosis, Bone marrow hypocellularity, Throm...	OMIM:224230
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Anti-Glomerular Basement Membrane Disease	Arthritis, Anemia	ORPHA:375
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, ...	ORPHA:486
Focal Segmental Glomerulosclerosis 1	Ascites, Anemia	OMIM:603278
C1Q Deficiency 2	Arthritis, Anemia	OMIM:620321
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Th...	OMIM:251290
Immunoglobulin A Deficiency 2	Autoimmunity	OMIM:609529
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Osteoporosis, Megaloblastic bone marrow, Abnormality of the live...	ORPHA:2169
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Proximal radio-ulnar synostosis, Aplastic a...	OMIM:605432
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP...	OMIM:608233
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Splenomegaly, Periostitis, Osteol...	OMIM:612852
Wolfram Syndrome 1	Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:230900
Gracile Syndrome	Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ...	ORPHA:53693
Sepsis In Premature Infants	Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver function, Neutropenia...	ORPHA:90051
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Thrombocyto...	OMIM:613990
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Junctional Epidermolysis Bullosa Inversa	Anemia	ORPHA:79405
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myelofibrosis, Joint laxity	OMIM:607721
Congenital Disorder Of Glycosylation, Type Iic	Bronchiolitis, Neutrophilia, Pneumonia, Reduction of neutrophil motility	OMIM:266265
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Increased circulat...	ORPHA:169160
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro...	OMIM:557000
Immunodeficiency 22	Abscess, Anemia, Decreased proportion of CD4-positive helper T cells, Ascites, Thrombocytopenia	OMIM:615758
Congenital Heart Block	Pericardial effusion, Pallor, Endocardial fibroelastosis, Intrauterine growth retardation, Patent...	ORPHA:60041
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Wilson Disease	Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Osteomalacia, Joint hypermobility, Elevate...	OMIM:277900
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Anemia	OMIM:226670
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomeg...	ORPHA:829
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Leukopenia, Ascites, Arthritis, Microangiopathic hemolytic anemia, Lymphopenia, ...	ORPHA:93552
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Anemia, Radial dysplasia	OMIM:617244
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Ost...	ORPHA:264580
Cronkhite-Canada Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:2930
Pilomatrixoma	Pruritus, Anti-myeloperoxidase antibody positivity	ORPHA:91414
Dengue Fever	Leukopenia, Ascites, Thrombocytopenia, Hepatomegaly	ORPHA:99828
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis, Anemia	ORPHA:324964
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Osteomyelitis, Splenomegaly, Hepatitis, Hepatospleno...	ORPHA:781
Bullous Pemphigoid	Psoriasiform dermatitis, Autoimmunity, Eczema	ORPHA:703
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine...	OMIM:617941
Mednik Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	ORPHA:171851
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Abnormal platelet count, Impaired collagen-induced platelet a...	OMIM:614201
Familial Benign Copper Deficiency	Anemia	ORPHA:1551
Metatropic Dysplasia	Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon...	ORPHA:2635
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis...	ORPHA:2796
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Hydatidiform Mole	Miscarriage, Anemia	ORPHA:99927
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice...	OMIM:211600
Late-Onset Junctional Epidermolysis Bullosa	Anemia	ORPHA:79406
Dermotrichic Syndrome	Anemia	ORPHA:99688
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Spl...	ORPHA:167
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of ...	ORPHA:391487
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Normochromic anemia, Thrombocytopenia	OMIM:618775
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Acanthocytosis, Intrahepatic cholestasis, Abnormal abdome...	ORPHA:97280
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A...	ORPHA:284
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, Lymphopenia, Anemia, Reduced bone mineral density	ORPHA:935
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Increased hematocrit, El...	ORPHA:90041
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count, Lymphadenopathy, Hepatomegaly	OMIM:609981
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c...	ORPHA:1830
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Osteoporosis, Increased susceptibility to fractures, Anemia, Bone marrow hypocellular...	OMIM:612199
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef...	ORPHA:31150
Pfapa Syndrome	Splenomegaly, Arthritis, Lymphadenopathy, Hepatomegaly	ORPHA:42642
Free Sialic Acid Storage Disease	Reduced bone mineral density, Splenomegaly, Ascites, Hepatomegaly	ORPHA:834
Fanconi Anemia, Complementation Group C	Pancytopenia, Flexion contracture, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutro...	OMIM:227645
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Osteoporosis, Hepatocellular adenoma, ...	ORPHA:79240
Von Willebrand Disease, Type 3	Joint hemorrhage, Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Trichohepatoenteric Syndrome 1	Splenomegaly, Thrombocytosis, Increased mean platelet volume	OMIM:222470
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Megalobla...	OMIM:275350
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia	OMIM:611126
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Recurrent fractures, Abnormality of neutrophils, Thromboc...	ORPHA:1775
Glanzmann Thrombasthenia 1	Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce...	OMIM:273800
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Joint stiffness, Splenomegaly, Mediastinal lymphadenopathy, Osteo...	ORPHA:809
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Decreased liver function, Anemia	OMIM:618835
Hemochromatosis, Type 2A	Splenomegaly, Arthritis, Cirrhosis, Hepatomegaly	OMIM:602390
Syndromic Diarrhea	Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia	ORPHA:84064
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Decreased liver function, Anemia	OMIM:618839
Acquired Purpura Fulminans	Hepatic failure, Thrombocytopenia	ORPHA:49566
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Joint stiffness, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis...	OMIM:615934
Osteootohepatoenteric Syndrome	Recurrent fractures, Microvesicular hepatic steatosis, Cholestasis, Reduced bone mineral density,...	OMIM:619377
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph...	ORPHA:1572
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor	OMIM:500007
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Osteogenesis Imperfecta, Type Xxii	Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density	OMIM:619795
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Kenny-Caffey Syndrome, Type 1	Decreased skull ossification, Calvarial osteosclerosis, Anemia	OMIM:244460
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Thrombocy...	OMIM:225750
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor	ORPHA:90036
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy	OMIM:619183
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, C...	OMIM:620005
Cholesteryl Ester Storage Disease	Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly	ORPHA:75234
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Brucellosis	Hepatomegaly, Liver abscess, Osteomyelitis, Lung abscess, Hypersplenism, Thrombocytopenia, Leukoc...	ORPHA:1304
Gaucher Disease	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Recurrent ...	ORPHA:355
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Elliptocytosis, Joint hypermobility, Anemia	OMIM:300990
Joubert Syndrome 33	Splenomegaly	OMIM:617767
3-Methylglutaconic Aciduria, Type Viib	Bone marrow maturation arrest, Flexion contracture, Leukopenia, Neutropenia, Hepatic steatosis, T...	OMIM:616271
Hypophosphatasia, Infantile	Craniosynostosis, Increased susceptibility to fractures, Decreased calvarial ossification, Stillb...	OMIM:241500
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Recon Progeroid Syndrome	Joint laxity, Thrombocytopenia, Anemia	OMIM:620370
Idiopathic Pulmonary Hemosiderosis	Iron deficiency anemia, Cardiomegaly, Pallor, Hepatosplenomegaly	ORPHA:99931
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Hypochromic microcytic anemia, ...	ORPHA:440713
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia, Decreased circulating antibody level	ORPHA:1116
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Pallor, Chronic lymphatic leukemia	ORPHA:90033
Overlap Myositis	Elevated hepatic transaminase, Leukopenia, Arthritis, Rheumatoid arthritis, Thrombocytopenia	ORPHA:206572
Zika Virus Disease	Arthritis, Thrombocytopenia	ORPHA:448237
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Intestinal lymphangiectasia, Ascites, Anemia	OMIM:226300
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Diamond-Blackfan Anemia 11	Granulocytic hypoplasia, Anemia of inadequate production, Radioulnar synostosis, Bone marrow hypo...	OMIM:614900
Immunoglobulin A Deficiency 1	Autoimmunity	OMIM:137100
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort...	ORPHA:3099
Braddock-Carey Syndrome 1	Thrombocytopenia, Camptodactyly	OMIM:619980
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia...	OMIM:612394
Catastrophic Antiphospholipid Syndrome	Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Roifman Syndrome	Hip contracture, Hepatomegaly, Eosinophilia, Splenomegaly, Lymphadenopathy	OMIM:616651
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Shigellosis	Abscess, Leukocytosis, Peritonitis, Cholestasis, Arthritis, Microangiopathic hemolytic anemia, Sp...	ORPHA:810
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:603467
Hurler-Scheie Syndrome	Splenomegaly, Limitation of joint mobility, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Tarp Syndrome	Extramedullary hematopoiesis	ORPHA:2886
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis,...	ORPHA:77293
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Abnormal lymphatic vessel morphology, Ascites, Decreased proportion of CD3-p...	ORPHA:90362
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Ascites, Thrombocytopenia	OMIM:617397
Necrotizing Enterocolitis	Peritonitis, Leukocytosis, Neutropenia, Ascites, Thrombocytopenia	ORPHA:391673
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Anemia	OMIM:246450
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Osteoporosis, Cirrhosis,...	OMIM:235200
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Craniosynostosis, Leukopenia, Arthrogryposis multipl...	OMIM:301056
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Hereditary Orotic Aciduria	Splenomegaly, Anemia	ORPHA:30
Fish-Eye Disease	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia	OMIM:618165
Alpha-Mannosidosis	Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Arthritis, Synostosis of joints	ORPHA:61
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical ...	ORPHA:50918
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypercellularity, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-n...	ORPHA:3261
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	ORPHA:79242
Eosinophilic Gastroenteritis	Leukocytosis, Ascites, Eosinophilia, Anemia	ORPHA:2070
Immunodeficiency, Common Variable, 2	Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Lymphopenia, Decreased proportion of naive ...	ORPHA:276
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Thrombocytopenia, Anemia	OMIM:619743
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestas...	OMIM:615895
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276556
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Joint stiffness, Cardiomegaly, Splenomegaly, Dense calvaria	OMIM:252920
Ivic Syndrome	Joint stiffness, Leukocytosis, Radioulnar synostosis, Thrombocytopenia, Synostosis of carpal bones	ORPHA:2307
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ...	ORPHA:73
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Abcd Syndrome	Neonatal death, Polycythemia	OMIM:600501
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased serum iron	OMIM:212050
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Sézary Syndrome	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly	ORPHA:3162
Ck Syndrome	Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu...	OMIM:615688
Solitary Rectal Ulcer Syndrome	Anemia	ORPHA:209964
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia	OMIM:613280
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p...	ORPHA:760
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,...	OMIM:131300
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia	OMIM:606593
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent pneumonia, Recurrent upper respiratory tract infections, B...	OMIM:614868
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Ataxia-Telangiectasia	Elevated hepatic transaminase, Lymphopenia, Aplasia/Hypoplasia of the thymus	ORPHA:100
Aceruloplasminemia	Anemia	OMIM:604290
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276575
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Immunodeficiency, Common Variable, 7	Splenomegaly	OMIM:614699
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hyperte...	OMIM:619487
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure	OMIM:613489
Dermatitis Herpetiformis	Pruritus, Autoimmunity, Eczema	ORPHA:1656
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Grant Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Lysinuric Protein Intolerance	Osteopenia, Hepatomegaly, Bone marrow hypercellularity, Elevated hepatic transaminase, Osteoporos...	ORPHA:470
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
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276580
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Pallor, Neutropenia, Atrial septal defect, Intrauterine growth retarda...	OMIM:609053
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Join...	OMIM:250250
Pearson Syndrome	Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, ...	ORPHA:699
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Hepatomegaly	OMIM:617388
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Osteopetrosis, Hepatomegaly	OMIM:618541
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Reduced bone mineral density, I...	ORPHA:2909
Adams-Oliver Syndrome	Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Ascites, Thrombocytopenia	ORPHA:974
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Joint stiffness, Splenomegaly, Sea-blue histiocytosis, Thin bony cortex	OMIM:230600
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Fibular Hemimelia	Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob...	ORPHA:93323
Multiple Myeloma	Osteopenia, Splenomegaly, Lymphadenopathy, Pathologic fracture, Anemia	ORPHA:29073
Pgm3-Cdg	Hemolytic anemia, Osteomyelitis, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnor...	ORPHA:443811
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Recurrent fractures, Anemia, Hepatomegaly	OMIM:239200
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Hepatiti...	OMIM:615846
Congenital Factor Ii Deficiency	Joint hemorrhage, Anemia	ORPHA:325
Bazex Syndrome	Anemia	ORPHA:166113
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Joint hypermobility, Splenomegaly, Microvesicular hepatic steatos...	OMIM:619418
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Joint stiffness, Knee osteoarthritis, Flexion contracture, Oligoarthritis, Synovitis, Lymphadenop...	ORPHA:85408
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures	ORPHA:1486
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Dense calvaria, Joint stiffness, Hepatomegaly	OMIM:252900
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia	OMIM:255125
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ...	ORPHA:464321
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Hepatic steatosis, Thrombocytopenia, Elevated hepatic transaminase	ORPHA:99901
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti...	OMIM:601495
Hardikar Syndrome	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy...	OMIM:301068
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Joint stiffness, Flexion contracture, Hepatosplenomegaly, Anemia, Leukopenia, Bone marrow hypocel...	ORPHA:505248
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Fanconi Anemia, Complementation Group D2	Pancytopenia, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropen...	OMIM:227646
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure...	OMIM:276700
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
American Trypanosomiasis	Myocarditis, Splenomegaly, Pallor, Cardiomyopathy	ORPHA:3386
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Lymphadenopathy, Sclerosis of skull base, Thrombo...	ORPHA:2905
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Thrombocytopeni...	ORPHA:36426
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Limb joint contracture, Splenomegaly, Micronodular cirrhosis, Flexion contracture, ...	OMIM:301072
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Herpes Simplex Virus Encephalitis	Hyponatremia, Respiratory failure requiring assisted ventilation, Neutrophilia, Elevated circulat...	ORPHA:1930
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Anemia, Neutropenia, Pancreatitis, Thromboc...	ORPHA:537
Senior-Boichis Syndrome	Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con...	ORPHA:84081
Severe Hemophilia A	Limb joint contracture, Limitation of joint mobility, Synovitis, Joint hemorrhage, Anemia	ORPHA:169802
Ivic Syndrome	Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R...	OMIM:147750
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangism, Neutropen...	ORPHA:221008
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Anemia, Camptodactyly	ORPHA:261323
Whipple Disease	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Anemia	ORPHA:3452
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangism, Synostosi...	ORPHA:221016
Sneddon Syndrome	Lymphopenia	OMIM:182410
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Rift Valley Fever	Elevated hepatic transaminase, Jaundice, Hepatitis, Anemia, Thrombocytopenia	ORPHA:319251
Macrocephaly/Autism Syndrome	Joint laxity, Splenomegaly, Lymphopenia, Hepatomegaly	OMIM:605309
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Camptoda...	OMIM:613385
Systemic Lupus Erythematosus	Hemolytic anemia, Lymphadenopathy, Leukopenia, Arthritis, Thrombocytopenia	ORPHA:536
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah...	OMIM:613812
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th...	ORPHA:2869
Immunodeficiency 67	Transient neutropenia, Increased circulating IgE level, Liver abscess	OMIM:607676
Bacterial Toxic-Shock Syndrome	Osteomyelitis, Abscess, Peritonitis, Hepatitis, Increased circulating myelocyte count, Arthritis,...	ORPHA:36234
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Thrombocytopenia	ORPHA:79330
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Anemia	ORPHA:329971
Neutrophilic Dermatosis, Acute Febrile	Anemia	OMIM:608068
Aredyld Syndrome	Splenomegaly, Craniofacial hyperostosis, Hepatomegaly	ORPHA:1133
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Thrombocytopenia	OMIM:254900
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Oste...	OMIM:232220
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Irida Syndrome	Decreased circulating copper concentration	ORPHA:209981
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno...	ORPHA:2388
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Oligoarthritis, Cholangitis	OMIM:614204
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia, Joint hypermobility	OMIM:615816
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia, Hepatomegaly	OMIM:619005
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Ascites, Hepatomegaly	ORPHA:2414
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Anemia	ORPHA:67
Secondary Non-Traumatic Avascular Necrosis	Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Joint stiffness, Splenomegal...	ORPHA:465508
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Mucopolysaccharidosis, Type Iiic	Splenomegaly, Dense calvaria, Joint stiffness, Hepatomegaly	OMIM:252930
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenop...	ORPHA:293173
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le...	OMIM:617099
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp...	ORPHA:731
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Delayed ossification of carpal bones, Eosinophilia, Hepatic cysts	OMIM:617425
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of ...	ORPHA:171
Pemphigus Foliaceus	Psoriasiform dermatitis, Autoimmunity, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia	ORPHA:33226
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Osteoporosis, Anemia, Leukopenia, Bone marrow hypocellulari...	OMIM:305000
Sjogren Syndrome	Autoimmunity, Rheumatoid arthritis	OMIM:270150
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Oligoarthritis, Chronic lymphatic leukemia, A...	ORPHA:3243
Fanconi Anemia, Complementation Group P	Pancytopenia, Anemia	OMIM:613951
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly	OMIM:235555
Stiff-Person Syndrome	Anemia	OMIM:184850
Opsismodysplasia	Splenomegaly, Abnormally ossified vertebrae, Joint stiffness, Hepatomegaly	ORPHA:2746
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, ...	ORPHA:667
Diamond-Blackfan Anemia 1	Macrocytic anemia, Thrombocytosis, Ventricular septal defect, Tricuspid stenosis, Congenital hypo...	OMIM:105650
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Recurrent fractures, Generalized osteoporosis, Joint hypermobility	OMIM:617952
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc	OMIM:601979
Nephronophthisis 11	Hepatic fibrosis, Anemia	OMIM:613550
Legionnaires Disease	Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan...	ORPHA:549
Atelis Syndrome 2	Thrombocytopenia, Anemia	OMIM:620185
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure	OMIM:615630
Attrv122I Amyloidosis	Left ventricular hypertrophy, Anemia, Cardiomegaly	ORPHA:85451
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Hepatic fibros...	ORPHA:2072
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:85414
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Autoimmunity	ORPHA:704
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Abnormality ...	ORPHA:91138
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Stiff neck, Leukocytosis, Fulminant hepatitis, Leukopenia, Lymphop...	ORPHA:319213
Camurati-Engelmann Disease	Hepatomegaly, Splenomegaly, Craniofacial osteosclerosis, Limitation of joint mobility, Leukopenia...	ORPHA:1328
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia	ORPHA:95159
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp...	OMIM:300755
Sandifer Syndrome	Anemia	ORPHA:71272
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
Congenital Disorder Of Glycosylation, Type Iiq	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:617395
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Sclerosis of skull base, Rheumat...	OMIM:607944
Dravet Syndrome	Pallor	ORPHA:33069
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Thickened cortex of long bones, Anemia	OMIM:127000
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Abnormally ossified vertebrae	ORPHA:3035
Nephronophthisis 4	Anemia	OMIM:606966
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Art...	OMIM:260920
Poikiloderma With Neutropenia	Joint laxity, Joint stiffness, Splenomegaly, Leukopenia, Neutropenia	OMIM:604173
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233690
Diamond-Blackfan Anemia 10	Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia	OMIM:613309
Fusariosis	Brain abscess, Osteomyelitis, Lung abscess, Abnormality of the spleen, Peritonitis, Arthritis, Ab...	ORPHA:228119
Hypophosphatemic Rickets, X-Linked Recessive	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Gm1-Gangliosidosis, Type I	Splenomegaly, Vacuolated lymphocytes, Joint stiffness, Hepatomegaly	OMIM:230500
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatiti...	ORPHA:2137
Thrombocytopenia-Absent Radius Syndrome	Fused cervical vertebrae, Thrombocytopenia	ORPHA:3320
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Dubowitz Syndrome	Craniosynostosis, Abnormality of neutrophils, Acute lymphoblastic leukemia, Anemia, Joint hyperfl...	ORPHA:235
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Lymphadenopathy, Chronic hepatiti...	ORPHA:289390
Huppke-Brendel Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:614482
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Decreased live...	ORPHA:85450
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Flexion contracture, Anemia	OMIM:226600
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, Osteomyelitis, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Cog2-Cdg	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	ORPHA:435934
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Chronic oral candidiasis, Juvenile rheumatoid arthritis, Hashimoto thyro...	ORPHA:275
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thrombocytopenia, Hyperextensibility of the finger joints, Anemia, Absent gallbladder	ORPHA:163979
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocyto...	ORPHA:37042
Alg12-Cdg	Elevated hepatic transaminase, Abnormal bone ossification, B lymphocytopenia, Camptodactyly, Thro...	ORPHA:79324
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up...	ORPHA:51636
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
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac...	ORPHA:20
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia	ORPHA:391307
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
Nephronophthisis 1	Anemia	OMIM:256100
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Follicular hyperplasia, Splen...	OMIM:619381
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Increased T cell count, Bone c...	ORPHA:797
Arteriosclerosis, Severe Juvenile	Anemia	OMIM:208060
Trichothiodystrophy 3, Photosensitive	Abdominal adhesions, Lymphopenia, Neutropenia	OMIM:616395
Familial Tumoral Calcinosis	Hyperostosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Decreased serum iron	ORPHA:391372
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Elevated hepatic transaminase, Portal h...	OMIM:613658
Mucopolysaccharidosis Type 7	Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling, Ascites	ORPHA:584
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Retroperitoneal fibrosis, Osteolysis, Anemia	ORPHA:35687
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Jaundice, Neutrophilia in presence o...	ORPHA:99826
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia	OMIM:617827
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Hypersplen...	ORPHA:275761
Carney Triad	Mediastinal lymphadenopathy, Ascites, Anemia, Lymphadenopathy	ORPHA:139411
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Scheie Syndrome	Splenomegaly, Limitation of joint mobility, Joint stiffness, Hepatomegaly	ORPHA:93474
Gastrointestinal Stromal Tumor	Abnormality of the liver, Anemia	ORPHA:44890
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hepatomegaly, Chronic neutropenia, Osteoporosis, Hepatocellular adenoma, Enlarged kid...	ORPHA:79259
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Splenomegaly, Delayed epiphyseal ossification, Hepatomegaly	OMIM:602557
Pancreatic And Cerebellar Agenesis	Joint stiffness, Flexion contracture, Pancreatic hypoplasia, Anemia, Pancreatic aplasia	OMIM:609069
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:306400
Rat-Bite Fever	Abdominal aseptic abscess, Lymphadenitis, Oligoarthritis, Arthritis, Septic arthritis, Pancreatit...	ORPHA:31205
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Pallor	ORPHA:134
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Fused cervical vertebra...	OMIM:274000
Adenohypophysitis	Normochromic anemia, Pallor	ORPHA:95512
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Camptodactyly of finger, Cardiomegaly, Microcytic an...	OMIM:256040
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Neutropenia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Autosomal Dominant Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Decreased skull ossification, Calvarial osteosclerosi...	ORPHA:93325
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Arthritis	OMIM:249100
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Tick-Borne Encephalitis	Elevated hepatic transaminase, Stiff neck, Leukocytosis, Leukopenia, Thrombocytopenia	ORPHA:297
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Flexion contracture of finger, Camptodactyly of finger, Cardiomegaly, Retroperitone...	OMIM:602782
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Hyperostosis	ORPHA:2969
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Flexion contracture, Osteo...	OMIM:613327
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Deeah Syndrome	Decreased hemoglobin concentration, Exocrine pancreatic insufficiency, Thrombocytopenia, Hepatome...	OMIM:619004
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia	ORPHA:647
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy	OMIM:616028
Hurler-Scheie Syndrome	Hepatomegaly, Camptodactyly of finger, Joint stiffness, Contracture of the distal interphalangeal...	OMIM:607015
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Leukocytosis, Septic arthritis, Pancreatitis, Thrombocytopenia	ORPHA:544482
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Ele...	OMIM:269700
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Anemia	OMIM:616541
Panhypophysitis	Normochromic anemia, Pallor	ORPHA:95513
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Pancytopenia, Neutrophilia, Acute pancreatitis, Stiff neck, Splenomegaly, Leukocyto...	ORPHA:99827
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Intrahepatic Cholestasis Of Pregnancy	Skin rash, Autoimmunity, Pruritus, Pruritus on foot, Palmar pruritus	ORPHA:69665
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Sinusitis, Elevated circulating alpha-fetoprotein c...	OMIM:208900
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Microcytic anemia, Leukocytosis, Anemia	ORPHA:99843
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Enlarged polycystic ovaries, Osteoarthritis, Biliary cirrhosis, Leukopenia, Thr...	ORPHA:2298
Lymphatic Malformation 7	Ascites, Anemia	OMIM:617300
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Pituitary Apoplexy	Normochromic anemia, Pallor	ORPHA:95613
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De...	ORPHA:48818
Khan-Khan-Katsanis Syndrome	Joint contracture, Lymphopenia, Anemia, Neutropenia	OMIM:618460
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Non-Functioning Pituitary Adenoma	Pallor, Anemia of inadequate production	ORPHA:91349
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Arthritis, Leukocytosis, Lymphopenia	ORPHA:247353
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr...	OMIM:615952
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Reduced bone mineral density, Leuko...	ORPHA:84
Tay-Sachs Disease	Pallor	OMIM:272800
Trichohepatoenteric Syndrome 2	Decreased serum iron	OMIM:614602
Dietary Iron Overload Disease	Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i...	ORPHA:139507
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Bone cyst, Flexion contracture, Osteolysis, Anemia	ORPHA:3042
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Roberts Syndrome	Progressive flexion contractures, Craniosynostosis, Knee flexion contracture, Radioulnar synostos...	ORPHA:3103
Jacobsen Syndrome	Annular pancreas, Flexion contracture, Thrombocytopenia	OMIM:147791
Sheehan Syndrome	Normochromic anemia, Dry skin, Pallor	ORPHA:91355
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Cranial hyperostosis	OMIM:612918
Fumarase Deficiency	Perimembranous ventricular septal defect, Polycythemia, Pallor	OMIM:606812
Dent Disease 1	Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Thrombocytosis, Leukocytosis, Thrombocytopenia	ORPHA:94093
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Thrombocytopenia, Leukocytosis, Anemia	ORPHA:340
Reni Syndrome	Lymphopenia	OMIM:617575
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration	ORPHA:521411
Juvenile Polyposis Syndrome	Anemia	OMIM:174900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Hepatic s...	ORPHA:247598
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas...	OMIM:613471
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Gout, Anemia	OMIM:174000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Craniosynostosis, Limited elbow movement, Decreased proportion of CD8-positive T ce...	ORPHA:508533
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Yellow Fever	Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentration, ...	ORPHA:99829
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Polycythemia, Hepatic hemangioma, Pancreatic cysts	OMIM:193300
Renal Nutcracker Syndrome	Anemia	ORPHA:71273
Melnick-Needles Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Craniofacial hyperostosis, Osteolytic ...	ORPHA:2484
Hennekam Syndrome	Lymphopenia, Camptodactyly of finger, Craniosynostosis, Splenomegaly, Pulmonary lymphangiectasia,...	ORPHA:2136
Primary Hyperoxaluria Type 1	Anemia	ORPHA:93598
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal...	OMIM:181000
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Multiple joint contractures, Neonatal alloimmune thrombocytopenia,...	ORPHA:51
Blau Syndrome	Camptodactyly of finger, Splenomegaly, Limitation of joint mobility, Synovitis, Lymphadenopathy, ...	ORPHA:90340
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Elevated serum transaminases during infection...	ORPHA:509
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Abnormal circulating porphyrin concentration, Incre...	ORPHA:101330
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Incontinentia Pigmenti	Leukocytosis, Erythema, Eosinophilia, Pallor	OMIM:308300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly	OMIM:615947
Digeorge Syndrome	Splenomegaly, Anemia, Abnormal thymus morphology, Hypoplasia of the thymus, Cholelithiasis, Hepat...	OMIM:188400
Primary Triglyceride Deposit Cardiomyovasculopathy	Splenomegaly, Vacuolated lymphocytes, Pancreatitis, Hepatomegaly	ORPHA:565612
Oculocerebrorenal Syndrome Of Lowe	Recurrent fractures, Osteomalacia, Joint stiffness, Thrombocytopenia, Joint hyperflexibility, Art...	ORPHA:534
Cornelia De Lange Syndrome 1	Duplication of internal organs, Limited elbow extension, Elbow flexion contracture, Thrombocytopenia	OMIM:122470
Degcags Syndrome	Pancytopenia, Ventricular septal defect, Congenital hypoplastic anemia, Hepatosplenomegaly, Leuko...	OMIM:619488
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy, Arthritis	ORPHA:32960
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Thrombocytopenia, Lymphadenopathy	ORPHA:79078
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Jacobsen Syndrome	Annular pancreas, Bone marrow hypocellularity, Thrombocytopenia	ORPHA:2308
22Q11.2 Deletion Syndrome	Abnormality of the tonsils, Abnormality of thrombocytes, Splenomegaly, Multiple suture craniosyno...	ORPHA:567
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:600081
Vici Syndrome	Left ventricular hypertrophy, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, Neutrope...	OMIM:242840
Acute Liver Failure	Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, He...	ORPHA:90062
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Spl...	OMIM:608594
Osteogenesis Imperfecta	Osteopenia, Recurrent fractures, Joint hypermobility, Fractures of the long bones, Osteoarthritis...	ORPHA:666
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology	OMIM:614886
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph...	OMIM:241530
Secondary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Dec...	ORPHA:90363
Von Hippel-Lindau Disease	Myocarditis, Cardiomyopathy, Polycythemia, Pallor	ORPHA:892
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Osteomyelitis, Perianal abscess, Leukocytosis, Peritonitis, Recurrent ton...	ORPHA:2968
Ogden Syndrome	Cardiomegaly, Thrombocytopenia, Jaundice, Microvesicular hepatic steatosis, Iron deficiency anemi...	OMIM:300855
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc...	ORPHA:89842
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Anemia	OMIM:175050
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ...	ORPHA:3206
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:264700
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:277440
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Pallor	ORPHA:2131
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia, Knee flexion contracture	OMIM:619708
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Decreased liver function, Thrombocytopenia	ORPHA:466650
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Prolactinoma	Pallor	ORPHA:2965
Histiocytoid Cardiomyopathy	Ventricular septal defect, Pallor, Cardiomegaly	ORPHA:137675
Psoriasis-Related Juvenile Idiopathic Arthritis	Psoriasiform dermatitis, Skin rash, Autoimmunity, Pruritus, Antinuclear antibody positivity, Mala...	ORPHA:85436
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect, Pallor	ORPHA:1199
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp...	ORPHA:289157
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Su...	ORPHA:99125
Cushing Disease	Decreased eosinophil count, Leukocytosis, Lymphopenia, Osteoporosis	ORPHA:96253
Isotretinoin-Like Syndrome	Lymphopenia	ORPHA:2306
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration	OMIM:620306
Familial Osteodysplasia, Anderson Type	Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures	ORPHA:2769
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Pallor	ORPHA:91347
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl...	ORPHA:2658
Aspartylglucosaminuria	Hepatomegaly, Joint stiffness, Splenomegaly, Arthritis, Abnormal cortical bone morphology	ORPHA:93
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Synovitis	OMIM:163950
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly	OMIM:612132
Oculodentodigital Dysplasia	Hyperostosis, Abnormal cortical bone morphology, Cranial hyperostosis, Camptodactyly of finger	ORPHA:2710
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Osteoporosis,...	ORPHA:99889
Goodpasture Syndrome	Pallor, Anemia	OMIM:233450
Telangiectasia, Hereditary Hemorrhagic, Type 2	Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia	OMIM:600376
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased serum zinc	OMIM:201100
Multiple Endocrine Neoplasia Type 2	Pallor	ORPHA:653
Dent Disease	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	ORPHA:1652
Slc39A8-Cdg	Hypomanganesemia, Abnormal blood zinc concentration	ORPHA:468699
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Decreased serum zinc	ORPHA:541423
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:304150
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased serum iron	ORPHA:438213
Acute Transverse Myelitis	Decreased circulating copper concentration	ORPHA:139417
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Decreased plasma total carnitine, Decreased serum zinc, Abnormal circulating selenium concentration	ORPHA:79408
Wrinkly Skin Syndrome	High nonceruloplasmin-bound serum copper	ORPHA:2834

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 Gata1

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 Gata1.

No publications found that use IMPC mice or data for Gata1.

Order Mouse and ES Cells

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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