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Gene: Smap1 MGI:2138261

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

small ArfGAP 1

Synonyms:

1700056O10Rik, 4921525H11Rik, 4921514B13Rik

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 Smap1 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 Smap1 (0 diseases)
Human diseases predicted to be associated with Smap1 (1272 diseases)

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

The table below shows human diseases predicted to be associated to Smap1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia, Refractory anemia with ringed sideroblasts	OMIM:182170
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Myelodysplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Anemia of inadequate product...	ORPHA:98826
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor...	ORPHA:86841
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ...	OMIM:619041
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
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
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia	OMIM:252270
Fanconi Anemia, Complementation Group G	Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt...	OMIM:614470
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis	OMIM:612126
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Reticulocytosis, Ataxia, Jaundice, Hepatosplenomegaly	ORPHA:33574
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Ataxia, Anemia	ORPHA:2802
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U...	ORPHA:2585
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni...	OMIM:159550
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Ataxia, Anemia, Leukopenia, Choreoathetosis, Lethargy, Pancreati...	ORPHA:27
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia	OMIM:229050
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st...	OMIM:615438
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Increased mean corpuscular vo...	OMIM:613839
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon...	OMIM:616871
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Ataxia, Reticulocytosis	OMIM:300653
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S...	OMIM:224120
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma	ORPHA:2760
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria	OMIM:615578
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Gait disturbance, Megaloblastic anemia	OMIM:250940
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno...	OMIM:153600
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Lethargy	OMIM:611590
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Lethargy, Gait disturbance, Megaloblastic anemia	OMIM:236270
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Ataxia	OMIM:619046
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Ataxia, Gait disturbance, Hepatomegaly	ORPHA:2274
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Birk-Aharoni Syndrome	Inability to walk, Macrocytic anemia	OMIM:620071
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, N...	OMIM:275350
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Imerslund-Grasbeck Syndrome 1	Megaloblastic anemia	OMIM:261100
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Splenomegaly, Loss of ambulation, Thrombocytopenia	OMIM:615010
Immunodeficiency 21	Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen...	OMIM:614172
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Myelodysplasia	OMIM:162830
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, De...	OMIM:617021
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:609628
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis	ORPHA:157991
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Glioma susceptibility 9	Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia	OMIM:616568
Malaria	Anemia, Gait imbalance, Thrombocytopenia	ORPHA:673
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Amed Syndrome, Digenic	Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Thromboc...	OMIM:619151
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp...	ORPHA:98870
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko...	ORPHA:98850
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia...	ORPHA:822
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder	OMIM:131440
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu...	OMIM:619523
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy...	OMIM:206100
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Abnormality of the liver, Increased mean corpuscular volume, Neu...	ORPHA:2169
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Bradykinesia, Steppage gait, Decreased liver functio...	OMIM:613280
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Fetal Parvovirus Syndrome	Thrombocytopenia, Ascites, Anemia	ORPHA:295
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Bone marrow hypocellu...	OMIM:614742
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Congenital Atransferrinemia	Abnormality of the pancreas, Anemia	ORPHA:1195
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Myelodysplas...	ORPHA:98849
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Thrombocytopenia	OMIM:189800
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto...	ORPHA:86839
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa...	ORPHA:71275
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Atransferrinemia	Abnormality of the liver, Hypochromic anemia	OMIM:209300
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Ataxia, Reticulocytosis	ORPHA:713
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Ataxia, Thrombocytopenia	OMIM:249270
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Spastic ataxia, Lethargy, Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Essential Thrombocythemia	Abnormality of thrombocytes, Myelodysplasia, Splenomegaly, Abnormal platelet morphology, Acute le...	ORPHA:3318
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia	ORPHA:2575
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae	OMIM:614038
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra...	OMIM:232800
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Myelodysplasia, Hepatic necrosis, Anemia, Leukopenia, Increased mean cor...	OMIM:127550
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Choreoathetosis, Neutropenia, Lethargy, Pancreatitis, Thrombo...	ORPHA:79312
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia	OMIM:613101
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Immunodeficiency 16	Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia	OMIM:615593
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased...	ORPHA:398063
Gray Platelet Syndrome	Splenomegaly, Myelodysplasia, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Hyperlysinemia, Type I	Anemia	OMIM:238700
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Nephronophthisis	Anemia	ORPHA:655
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Leukemia, Myeloid leukemia	OMIM:614743
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi...	ORPHA:848
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Choreoathetosis, Neutropenia, Lethargy, Pancreatitis, Thrombocytopenia	ORPHA:289916
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Tempi Syndrome	Hemangioma, Ascites, Increased hematocrit, Polycythemia	ORPHA:284227
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia	ORPHA:309108
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Sterile abscess	OMIM:604416
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia	OMIM:610738
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Asc...	ORPHA:858
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Macrocytic anemia, Granulocytopenia	OMIM:606164
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt...	OMIM:226990
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hemangiomatosis, Visceral angiomatosis, Anemia, Ascites, Thrombocytopenia	ORPHA:2123
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Unsteady gait, No...	OMIM:615512
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Lethargy, Hepatomegaly	OMIM:613561
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Bone ...	ORPHA:318
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea...	ORPHA:98827
Erythrocytosis, Familial, 2	Increased red blood cell mass, Hemangioma, Increased hematocrit, Increased hemoglobin	OMIM:263400
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Impair...	OMIM:601399
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias, Lymphoma	OMIM:247640
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Alpha-Thalassemia Myelodysplasia Syndrome	Myelodysplasia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym...	OMIM:613011
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Vexas Syndrome	Macrocytic anemia, Myelodysplasia, Thrombocytopenia	OMIM:301054
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia, Dysmetria, Dysdiadochokinesis, Nonprogressiv...	OMIM:301310
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Wolfram Syndrome 1	Sideroblastic anemia, Ataxia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Lethargy, Thrombocytopenia	OMIM:277380
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe...	OMIM:617052
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Neutropenia, Lethargy, Abnormal posturing, Thrombocytopenia	OMIM:614857
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Myelodysplasia, Erythroid hypoplasia, Reticulocyto...	ORPHA:124
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia, Ataxia, Gait disturbance	ORPHA:98673
N Syndrome	Leukemia, Neoplasm	OMIM:310465
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Microcytic anemia, Elevated circulating alanine aminotransferase ...	OMIM:618805
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea...	ORPHA:300298
Primary Erythromelalgia	Leukemia, Abnormality of thrombocytes	ORPHA:90026
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Non-Involuting Congenital Hemangioma	Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted angioma, Viscera...	ORPHA:141179
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop...	ORPHA:824
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Unsteady gait, Anemia	OMIM:610090
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop...	ORPHA:108
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia	OMIM:245900
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Transaldolase Deficiency	Thrombocytopenia, Cirrhosis, Anemia, Hepatosplenomegaly	ORPHA:101028
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ...	OMIM:274150
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Abcd Syndrome	Polycythemia	OMIM:600501
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Lethargy, Anemia	ORPHA:28
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphoblastic leukem...	ORPHA:486
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Mitochondrial Dna Depletion Syndrome 18	Falls, Microcytic anemia	OMIM:618811
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:618116
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Rapidly Involuting Congenital Hemangioma	Perineal hemangioma, Midfrontal capillary hemangioma, Hepatic hemangioma, Tufted angioma, Viscera...	ORPHA:141184
Rhabdoid Tumor	Renal neoplasm, Lymphadenopathy, Neoplasm of the central nervous system, Anemia, Neoplasm of the ...	ORPHA:69077
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Pulmonary Hemosiderosis	Iron deficiency anemia	OMIM:178550
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Glutathione Synthetase Deficiency	Hemolytic anemia, Ataxia, Neutropenia	OMIM:266130
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Th...	ORPHA:229717
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Methylmalonic Acidemia With Homocystinuria Type Cblf	Reduced number of intrahepatic bile ducts, Neutropenia, Lethargy, Megaloblastic anemia	ORPHA:79284
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myelodysplasia...	OMIM:260400
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia	OMIM:231000
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Tufted Angioma	Thrombocytopenia, Neoplasm of the skin, Hemangioma of the lip, Anemia, Facial hemangioma	ORPHA:1063
Mismatch Repair Cancer Syndrome 2	Glioblastoma multiforme, T-cell acute lymphoblastic leukemias	OMIM:619096
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Anemia	ORPHA:37748
Diamond-Blackfan Anemia 10	Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia	OMIM:613309
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proporti...	ORPHA:3261
Hemangioma-Thrombocytopenia Syndrome	Hemangioma, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia	ORPHA:79278
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Lymphoma, Iron deficiency anemia, Throm...	OMIM:212750
Vascular Malformation, Primary Intraosseous	Hypochromic anemia	OMIM:606893
Thymoma	Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Imbalanced hemoglobin synthesi...	ORPHA:99867
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Lymphoma, Lymp...	ORPHA:33226
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Lymphad...	OMIM:308240
Specific Granule Deficiency 2	Absent neutrophil specific granules, Myelodysplasia, Anemia, Neutropenia, Thrombocytopenia	OMIM:617475
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos...	OMIM:612840
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Blue Rubber Bleb Nevus	Visceral angiomatosis, Cavernous hemangioma, Microcytic anemia	ORPHA:1059
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:603909
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat...	ORPHA:158061
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl...	ORPHA:398124
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:614727
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Nephroblastoma, Meningioma	OMIM:602501
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia	ORPHA:290
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Storage Pool Platelet Disease	Myelodysplasia, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Abnormality of thrombocytes, Anemia	ORPHA:3204
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo...	OMIM:301078
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha...	ORPHA:90033
Mantle Cell Lymphoma	Splenomegaly, B-cell lymphoma, Lymphadenopathy	ORPHA:52416
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia, Hepatomegaly	OMIM:618107
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob...	OMIM:193300
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Thyrocerebrorenal Syndrome	Nonprogressive cerebellar ataxia, Thrombocytopenia	ORPHA:3327
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Reticular Dysgenesis	Anemia, Leukopenia, Aplasia/Hypoplasia of the thymus, Abnormality of neutrophils	ORPHA:33355
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto...	OMIM:300853
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Choreoathetosis, Hypochromic anemia, Microcytic anemia	OMIM:618451
Diamond-Blackfan Anemia 1	Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ...	OMIM:105650
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Hepatitis, Lethargy	ORPHA:199299
Porphyria Due To Ala Dehydratase Deficiency	Abnormal erythrocyte enzyme level, Myeloproliferative disorder, Difficulty walking	ORPHA:100924
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ...	OMIM:150550
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Immunodeficiency 104	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly	OMIM:608971
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Microcytic anemia	OMIM:619013
Tularemia	Brain abscess, Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal adenoid morphol...	ORPHA:3392
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Acute myeloid leukemia	OMIM:246470
Livedoid Vasculopathy	Leukocytosis, Pancytopenia, Polycythemia, Anemia	ORPHA:542643
Sandifer Syndrome	Abnormal posturing, Anemia	ORPHA:71272
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan...	ORPHA:54251
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Thymoma, Leukopenia...	ORPHA:227990
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	ORPHA:88
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia	OMIM:620184
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Poems Syndrome	Lymphoproliferative disorder, Lymphadenopathy, Thrombocytosis, Hemangioma, Ascites, Polycythemia,...	ORPHA:2905
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Thrombocytopenia	ORPHA:67048
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Thrombocytopenia	OMIM:230800
Fibrodysplasia Ossificans Progressiva	Anemia	ORPHA:337
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia...	OMIM:301082
Felty Syndrome	Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Anemia, Bone marrow hypocellularity, Neutr...	ORPHA:47612
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat...	ORPHA:79140
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Ascites, Anemia	ORPHA:1046
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Leukocytosis, Lymphoma, Lymphadenopathy, Acute leukemia	ORPHA:99812
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Griscelli Syndrome	Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa...	ORPHA:381
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Thymoma, Leukopenia...	ORPHA:227982
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Thrombocytopenia, Splenomegaly, ...	OMIM:214500
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Leukemia, Thro...	OMIM:227645
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Abnormal T cell ...	ORPHA:158048
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Fibroma, Lymphadenopathy, Microcytic anemia	OMIM:619750
Isovaleric Acidemia	Pancytopenia, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocytopenia	OMIM:243500
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he...	OMIM:304790
Hemochromatosis, Type 4	Hepatomegaly, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi...	ORPHA:296
Intermediate Osteopetrosis	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:210110
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Lethargy, Thrombocytopenia	OMIM:251110
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity	OMIM:605724
Immunodeficiency 36 With Lymphoproliferation	B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion...	OMIM:616005
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma	OMIM:619437
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia	ORPHA:75233
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He...	ORPHA:210136
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Propionic Acidemia	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Lethargy, Pancreatitis, Thrombocytopenia	OMIM:606054
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Myelodysplasia, Anemia, Squamous cell carcinoma of the skin, Lymphopenia, Th...	OMIM:620365
Hemochromatosis, Type 3	Elevated hepatic transaminase, Cirrhosis, Neutropenia, Lymphopenia, Anemia	OMIM:604250
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax...	OMIM:613470
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer...	ORPHA:79456
Intermediate Generalized Junctional Epidermolysis Bullosa	Anemia	ORPHA:79402
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Myh9-Related Disease	Elevated hepatic transaminase, Increased mean platelet volume, Giant platelets, Neutrophil inclus...	ORPHA:182050
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Lethargy, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia	ORPHA:2598
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep...	OMIM:606003
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Acatalasemia	Neoplasm of the larynx, Microcytic anemia	ORPHA:926
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia	OMIM:618398
Coach Syndrome 3	Portal fibrosis, Ataxia, Anemia	OMIM:619113
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,...	ORPHA:160
Familial Isolated Dilated Cardiomyopathy	Abnormality of neutrophils	ORPHA:154
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
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
Thyrocerebroretinal Syndrome	Ataxia, Thrombocytopenia	OMIM:274240
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thromboc...	ORPHA:91547
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr...	ORPHA:3243
Abetalipoproteinemia	Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Broad-based gait, Ataxia, Cardiomeg...	ORPHA:14
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
3-Methylglutaconic Aciduria, Type V	Ataxia, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic ste...	OMIM:610198
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Potocki-Shaffer Syndrome	Nephroblastoma, Anemia, Exostoses	ORPHA:52022
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa...	ORPHA:90038
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Hepatosplenomeg...	OMIM:619644
Chilblain Lupus	Chronic myelomonocytic leukemia	ORPHA:90280
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Oslam Syndrome	Neoplasm, Anemia, Osteosarcoma	OMIM:165660
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Hereditary Methemoglobinemia	Athetosis, Methemoglobinemia	ORPHA:621
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Lesch-Nyhan Syndrome	Choreoathetosis, Megaloblastic anemia	OMIM:300322
Mitochondrial Dna Depletion Syndrome 19	Microcytic anemia	OMIM:618972
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Anemia	ORPHA:2325
Preeclampsia	Elevated hepatic transaminase, Abnormality of the hepatic vasculature, Thrombocytopenia	ORPHA:275555
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Polysplenia	OMIM:614294
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hypochromic anemia, Erythroid hyper...	OMIM:600462
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Anemia...	OMIM:170100
Srd5A3-Cdg	Elevated hepatic transaminase, Ataxia, Microcytic anemia	ORPHA:324737
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia	OMIM:614520
Sandhoff Disease	Splenomegaly, Ataxia, Hepatomegaly	ORPHA:796
Glioma Susceptibility 3	Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med...	OMIM:613029
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Ataxia, Anemia, Neoplasm, Bone marrow hypocellularity, Thrombocyto...	ORPHA:3322
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Ataxia, Hepatosplenomegaly, Cirrho...	ORPHA:263501
Pearson Syndrome	Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, ...	ORPHA:699
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s...	ORPHA:47
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Noonan Syndrome 12	Glabellar hemangioma, Lymphopenia, Thrombocytopenia	OMIM:618624
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Immunodeficiency 10	Kaposi's sarcoma, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, As...	OMIM:614034
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia	OMIM:603585
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytos...	OMIM:267700
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma...	OMIM:615122
Nasu-Hakola Disease	Acute leukemia	ORPHA:2770
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cho...	ORPHA:540
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia	ORPHA:169090
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Platelet Disorder, Undefined	Neuroblastoma, Impaired platelet aggregation, Thrombocytopenia, Hematological neoplasm	OMIM:173420
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma	ORPHA:66661
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Absent circulating B c...	OMIM:620282
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymp...	OMIM:616084
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Intestinal lymphangiectasia, Ascites, Anemia	OMIM:226300
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Unsteady gait	ORPHA:79096
Junctional Epidermolysis Bullosa Inversa	Basal cell carcinoma, Cutaneous melanoma, Anemia, Squamous cell carcinoma	ORPHA:79405
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Ataxia, Fluctuating splenomegaly, F...	OMIM:610377
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Waddling gait, Hepatomegaly, Microcytic anemia, Difficulty walking, Neutropenia	OMIM:251900
Hypothyroidism, Congenital, Nongoitrous, 6	Broad-based gait, Anemia	OMIM:614450
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro...	OMIM:557000
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Jaundice, Hepato...	OMIM:603553
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Cirrhosis, Ascites, ...	ORPHA:77259
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Difficulty walking, Leukopenia	OMIM:255125
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy	ORPHA:86893
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cholestasis, Anemia, Decreased liver function, Ascites, Thrombocytopenia	OMIM:608104
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Myelodysplasia, Thrombocytopenia	OMIM:606593
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Syndromic Recessive X-Linked Ichthyosis	Testicular seminoma, Acute leukemia	ORPHA:281090
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Athetosis, Megaloblastic anemia	ORPHA:79351
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Hemangioma, Thrombocytopenia, Cerebellar medull...	OMIM:112200
Dermatitis Herpetiformis	Microcytic anemia	ORPHA:1656
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Klippel-Trénaunay Syndrome	Hepatomegaly, Hemangioma, Ascites, Microcytic anemia	ORPHA:90308
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, ...	OMIM:617591
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Lethargy, Thrombocytopenia	OMIM:251100
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis...	ORPHA:1451
Classic Mycosis Fungoides	Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the...	ORPHA:2584
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Indolent Systemic Mastocytosis	Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25...	ORPHA:98848
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Leukopenia, Neutropenia, Lethargy, Pancreatitis, Thrombocytopenia	OMIM:251000
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Lymphoma, ...	ORPHA:906
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Abnormal lymph...	ORPHA:39041
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leuk...	ORPHA:292
Fanconi Anemia, Complementation Group D2	Pancytopenia, Annular pancreas, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropen...	OMIM:227646
Late-Onset Junctional Epidermolysis Bullosa	Basal cell carcinoma, Cutaneous melanoma, Anemia, Squamous cell carcinoma	ORPHA:79406
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Squamous cell carcinoma, Leukopeni...	ORPHA:79277
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia	OMIM:259700
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Mitochondrial Complex I Deficiency, Nuclear Type 39	Anemia, Cardiomegaly	OMIM:620135
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Peritonitis, Cervical lymphadenopathy, Recurrent tonsilliti...	ORPHA:2686
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine...	OMIM:617941
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Fumarase Deficiency	Intrahepatic cholestasis, Cutaneous leiomyoma, Hepatic failure, Ascites, Polycythemia	OMIM:606812
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
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Gait disturbance, Anemia	ORPHA:1192
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Anemia, Aplasia/Hypoplasia o...	ORPHA:169105
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Focal Segmental Glomerulosclerosis 1	Ascites, Anemia	OMIM:603278
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangit...	ORPHA:3260
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Microcytic anemia	OMIM:612379
Dengue Fever	Hepatomegaly, Leukopenia, Lethargy, Ascites, Thrombocytopenia	ORPHA:99828
Bleeding Disorder, Platelet-Type, 11	Impaired collagen-induced platelet aggregation, Abnormal platelet count, Impaired ristocetin-indu...	OMIM:614201
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t...	ORPHA:892
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc...	OMIM:614946
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Neoplasm	ORPHA:172
Congenital Disorder Of Glycosylation, Type Ii	Iron deficiency anemia, Hepatomegaly	OMIM:607906
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Majeed Syndrome	Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a...	ORPHA:77297
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Orthostatic Hypotension 2	Anemia	OMIM:618182
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul...	OMIM:300972
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Iron deficiency ane...	ORPHA:1667
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Megaloblastic anemia, Jaundice, Neutropenia, Lethargy, Thrombocytopenia	ORPHA:79282
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Inability to walk, Thrombocytopenia	OMIM:616577
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Self-Improving Dystrophic Epidermolysis Bullosa	Basal cell carcinoma, Cutaneous melanoma, Anemia, Squamous cell carcinoma	ORPHA:79411
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia	OMIM:617056
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:90060
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, Abnormality of neutrophils, Hypochromic anemia	ORPHA:2720
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic fibrosis...	OMIM:616719
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi...	OMIM:301045
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis	OMIM:260570
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia	OMIM:617101
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Inability to walk, Athetosis, Loss of ability to walk in early childhood, Microcytic anemia	OMIM:612073
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Cirrhosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly	ORPHA:99931
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Familial Benign Copper Deficiency	Anemia	ORPHA:1551
Ataxia-Telangiectasia	Ataxia, Inability to walk, Lymphoma, Hodgkin lymphoma, Acute lymphoblastic leukemia, T lymphocyto...	OMIM:208900
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Leukopenia, Thrombocytopenia, Pancytopenia, Anemia	OMIM:613845
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Rothmund-Thomson Syndrome	Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Basal cell carcinoma, Melanoma, Neoplas...	ORPHA:2909
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Normochromic anemia, Thrombocytopenia	OMIM:618775
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Hepatomegaly	ORPHA:79238
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Tyrosinemia Type 1	Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Galactosemia I	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec...	OMIM:618935
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenome...	OMIM:613179
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Basal cell carcinoma, Melanoma, Neoplas...	ORPHA:221008
Alg8-Cdg	Elevated hepatic transaminase, Ataxia, Anemia, Ascites, Thrombocytopenia	ORPHA:79325
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Inability to walk, Anemia, Leukopenia, Macrovesicular hepatic steatos...	OMIM:617303
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Anemia	OMIM:226670
Galactosemia Iii	Splenomegaly, Jaundice, Hepatomegaly	OMIM:230350
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Immunodeficiency 22	Abscess, Anemia, Decreased proportion of CD4-positive helper T cells, Ascites, Thrombocytopenia	OMIM:615758
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Polycythemia Vera	Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Acute le...	ORPHA:729
Boutonneuse Fever	Elevated hepatic transaminase, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocyto...	ORPHA:83313
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphom...	ORPHA:647
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Myelodysplasia, Lymphoma, Squamous cell carcinoma, Basal cell carcinoma, Melanom...	ORPHA:221016
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Dermotrichic Syndrome	Anemia	ORPHA:99688
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow h...	ORPHA:508542
Cronkhite-Canada Syndrome	Hepatomegaly, Splenomegaly, Hamartomatous polyposis, Neoplasm, Anemia	ORPHA:2930
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Hypochromic microcytic anemia	OMIM:619423
Aceruloplasminemia	Ataxia, Anemia	OMIM:604290
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Absent circulating B cells, Abnormal T cell morphology	OMIM:613501
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Lymp...	OMIM:614700
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ...	ORPHA:464329
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:230900
Kearns-Sayre Syndrome	Sideroblastic anemia, Ataxia	OMIM:530000
Anti-Glomerular Basement Membrane Disease	Anemia	ORPHA:375
Holocarboxylase Synthetase Deficiency	Lethargy, Ataxia, Thrombocytopenia	ORPHA:79242
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Pyoderma Gangrenosum	Myeloid leukemia, Myelodysplasia	ORPHA:48104
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Leukopenia, Lymphopenia, Hepatomegaly	OMIM:620210
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Abnormal erythrocyte enzyme level, Jaundice,...	ORPHA:79239
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
C1Q Deficiency 2	Anemia	OMIM:620321
Glanzmann Thrombasthenia 1	Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Abnormal pla...	OMIM:273800
Sepsis In Premature Infants	Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Anemia, Decreased liver function, Neutropenia...	ORPHA:90051
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:269920
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis...	ORPHA:440713
Hemochromatosis, Type 5	Anemia, Elevated hepatic iron concentration	OMIM:615517
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Lethargy, Ascites, Thrombocytopenia	OMIM:617397
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hepatic failure, Hepatic steatosis	OMIM:617872
Plummer-Vinson Syndrome	Iron deficiency anemia, Hypochromic microcytic anemia	ORPHA:54028
Bazex Syndrome	Neoplasm, Lung adenocarcinoma, Anemia, Liposarcoma	ORPHA:166113
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop...	OMIM:612541
Dystonia 31	Abnormal posturing, Difficulty walking	OMIM:619565
Bloom Syndrome	Elevated hemoglobin A1c, Lymphoma, Squamous cell carcinoma, Leukemia, Hepatic steatosis	OMIM:210900
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Akinesia, Hypochromic microcytic anemia, Anemia	OMIM:619147
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Muckle-Wells Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:575
Hydatidiform Mole	Anemia	ORPHA:99927
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Ataxia	ORPHA:251009
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Tooth abscess	ORPHA:89937
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Inability to walk, Stomatocytosis	OMIM:608885
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Necrotizing Enterocolitis	Peritonitis, Leukocytosis, Neutropenia, Lethargy, Ascites, Thrombocytopenia	ORPHA:391673
Eisenmenger Syndrome	Hepatomegaly, Brain abscess, Hypochromic microcytic anemia, Iron deficiency anemia, Abnormality o...	ORPHA:97214
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Ataxia, Myelodysplas...	OMIM:305000
Hypophosphatasia	Anemia	ORPHA:436
Coproporphyria, Hereditary	Splenomegaly, Jaundice, Hepatomegaly	OMIM:121300
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Astrocytoma, Ataxia, Brain neoplasm, Soft tissue neoplasm, Glioma, Pilom...	ORPHA:99818
Noonan Syndrome 6	Juvenile myelomonocytic leukemia	OMIM:613224
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Immunodeficiency, Common Variable, 6	Hepatomegaly, Enlarged kidney, Autoimmune thrombocytopenia	OMIM:613496
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Hepatic failure, ...	OMIM:608013
Barth Syndrome	Cyclic neutropenia, Hypochromic microcytic anemia, Gait disturbance, Granulocytopenia, Neutropenia	OMIM:302060
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Th...	OMIM:251290
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Anemia, Neutropenia	OMIM:618067
Eosinophilic Gastroenteritis	Leukocytosis, Ascites, Eosinophilia, Anemia	ORPHA:2070
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphoma, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia	OMIM:618165
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop...	OMIM:613989
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP...	OMIM:608233
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Unsteady gait, Thrombocytopenia, Gait ataxia	OMIM:254900
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Acquired Purpura Fulminans	Neoplasm, Hepatic failure, Thrombocytopenia	ORPHA:49566
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids	OMIM:619769
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef...	ORPHA:31150
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Neuroblastoma, Susceptibility To, 1	Ataxia, Abdominal mass, Ganglioneuroblastoma, Neuroblastoma, Ganglioneuroma, Anemia	OMIM:256700
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Leukemia, Myelodysplasia	OMIM:619951
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia, Jaundice	OMIM:301015
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Spinocerebellar Ataxia, Autosomal Recessive 23	Ataxia, Neutropenia	OMIM:616949
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Elevated hepatic transaminase, Pancytopenia, Ataxia, Thrombocytope...	ORPHA:167
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the...	ORPHA:3162
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Lethargy, Lymphopenia, Thrombocytopenia	ORPHA:319218
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Cholestasis, Cirrhosis, ...	OMIM:614576
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Anemia	ORPHA:1842
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Jaundice, Neutrophilia in presence o...	ORPHA:99826
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Anemia, Gait disturbance, Thrombocytopenia	ORPHA:77261
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly	OMIM:608540
Fanconi Anemia, Complementation Group S	Ataxia, Breast carcinoma, Ovarian neoplasm, Ovarian carcinoma, Anemia	OMIM:617883
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dysmetr...	OMIM:256550
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Athetosis, Ataxia, Thrombocytopenia, Dysmetria	OMIM:617710
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia	OMIM:611126
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Schimke Immunoosseous Dysplasia	Waddling gait, Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thromb...	OMIM:242900
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Ataxia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the l...	ORPHA:77293
Immunodeficiency 54	Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Reduced natural killer...	OMIM:609981
Solitary Rectal Ulcer Syndrome	Anemia	ORPHA:209964
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Inability to walk, Prolonged neonatal ...	OMIM:225750
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Ataxia, Gait disturbance, Loss of ambulation, Lethargy, Anemia	OMIM:615838
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Microcytic anemia, T l...	ORPHA:2959
Beckwith-Wiedemann Syndrome	Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Cardiomegaly, Splenomegaly, Adrenocortical carcin...	ORPHA:116
Mirage Syndrome	Myelodysplasia, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Hemochromatosis, Type 2A	Splenomegaly, Lethargy, Cirrhosis, Hepatomegaly	OMIM:602390
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg...	ORPHA:829
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc...	OMIM:269200
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Ataxia, Microvesicular hepatic steatosis, Hypochromic microcytic a...	ORPHA:66634
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Anemia	OMIM:246450
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia	OMIM:619632
Aceruloplasminemia	Refractory anemia, Ataxia, Akinesia, Abnormal pancreas morphology, Hypochromic microcytic anemia,...	ORPHA:48818
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone ...	ORPHA:2968
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hepatic failure, Cholelithiasis	OMIM:177000
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Acquired Von Willebrand Syndrome	Normocytic anemia, Hematological neoplasm, Refractory anemia, Hypochromic anemia	ORPHA:99147
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Neoplasm of the nose, Biliary tract neoplasm, Enlarged polycystic ovar...	ORPHA:2869
Tatton-Brown-Rahman Syndrome	Myeloid leukemia, Neuroendocrine neoplasm	ORPHA:404443
Schimke Immuno-Osseous Dysplasia	Non-Hodgkin lymphoma, Lymphoproliferative disorder, Thrombocytopenia, Decreased proportion of nai...	ORPHA:1830
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Classic Hodgkin Lymphoma	Hepatomegaly, Ataxia, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity	ORPHA:391
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia,...	ORPHA:781
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Hereditary Orotic Aciduria	Splenomegaly, Anemia	ORPHA:30
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of a...	ORPHA:525731
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:619183
Congenital Factor Xiii Deficiency	Myeloid leukemia, Hepatic failure	ORPHA:331
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal st...	ORPHA:1572
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy	ORPHA:545
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia, Abnormality of the hepatic vasculature, Nodular regenerat...	ORPHA:247691
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Ataxia, Microcytic anemia, Leukocytosis, Impaired tandem gait, Anemia	ORPHA:99843
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Ataxia, Splenomegaly, C...	ORPHA:50918
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Hereditary Coproporphyria	Anemia, Hepatocellular carcinoma	ORPHA:79273
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocyto...	ORPHA:93552
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Ataxia, Gait disturbance, Decreased liver function, Diffuse hepatic steatosis, Anemia	ORPHA:436271
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Hepatomegaly	OMIM:228000
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia	OMIM:222700
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Anemia	ORPHA:53
Dubowitz Syndrome	Abnormality of neutrophils, Lymphoma, Acute lymphoblastic leukemia, Anemia, Neoplasm, Thrombocyto...	ORPHA:235
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Anemia, Osteosarcoma	OMIM:620072
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Anemia	OMIM:618835
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Laryngeal papilloma	OMIM:617388
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Anemia	OMIM:618839
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin, Prolonged neonatal jaundice	ORPHA:423479
Mevalonic Aciduria	Splenomegaly, Ataxia	ORPHA:29
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegal...	ORPHA:333
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm	OMIM:240500
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Leukemia, Chronic Myeloid	Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia	OMIM:608232
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati...	ORPHA:46059
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Choreoathetosis, Leukopenia, Neutropenia, Hepatic steatosis, Thrombocytopenia	OMIM:616271
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Intrahepatic cholestasis, A...	ORPHA:97282
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Ataxia, Fetal ascites, Bone-marrow foam cells, Sple...	OMIM:257220
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Recessive Dystrophic Epidermolysis Bullosa Inversa	Basal cell carcinoma, Cutaneous melanoma, Anemia, Squamous cell carcinoma	ORPHA:79409
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Iron deficien...	ORPHA:100075
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Breast carcinoma, Hamartoma...	OMIM:175200
Overlap Myositis	Elevated hepatic transaminase, Leukopenia, Difficulty walking, Thrombocytopenia	ORPHA:206572
Amyloidosis, Familial Visceral	Splenomegaly, Cholestasis, Hepatomegaly	OMIM:105200
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop...	OMIM:618986
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Brain neoplasm, Pelvic mass, Jaundice, Spinal cord tumor, Ovarian neopl...	ORPHA:370348
Sialidosis Type 2	Splenomegaly, Ascites, Ataxia, Hepatomegaly	ORPHA:87876
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Ataxia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613990
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Splenomegaly, Cirrhosis, Hepatic failure	OMIM:613489
Weismann-Netter Syndrome	Anemia	ORPHA:3344
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Anemia	OMIM:617244
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestas...	OMIM:615895
Free Sialic Acid Storage Disease	Hepatomegaly, Ataxia, Splenomegaly, Athetosis, Gait disturbance, Ascites	ORPHA:834
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au...	ORPHA:572
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:603467
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Pfapa Syndrome	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:42642
Addison Disease	Normocytic anemia, Thiamine-responsive megaloblastic anemia, Thymoma	ORPHA:85138
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Microcytic anemia	ORPHA:293967
Down Syndrome	Abnormality of the lymphatic system, Gait disturbance, Acute megakaryocytic leukemia	ORPHA:870
Osteopetrosis, Autosomal Recessive 9	Anemia	OMIM:620366
Joubert Syndrome 33	Splenomegaly, Ataxia	OMIM:617767
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Splenomegaly, Leukocytosis, Choreoathetosis,...	OMIM:615673
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Thrombocytopenia	OMIM:263700
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Basal cell carcinoma, Cutaneous melanoma, Anemia, Squamous cell carcinoma	ORPHA:79410
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Neutrophilic Dermatosis, Acute Febrile	Anemia	OMIM:608068
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Enlarged kidney, Histiocytosis	ORPHA:168569
Ogden Syndrome	Cardiomegaly, Thrombocytopenia, Jaundice, Microvesicular hepatic steatosis, Iron deficiency anemi...	OMIM:300855
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia	OMIM:618752
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Acanthocytosis, Intrahepatic cholestasis, Abnormal abdome...	ORPHA:97280
Congenital Factor Ii Deficiency	Anemia	ORPHA:325
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Ataxia, Decreased liver function, Truncal ataxia, Increased hepatocellular lipid dr...	OMIM:220110
Congenital Disorder Of Glycosylation, Type Iit	Iron deficiency anemia	OMIM:618885
Developmental And Epileptic Encephalopathy 50	Broad-based gait, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia	OMIM:616457
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep...	ORPHA:264580
Roifman Syndrome	Lymphadenopathy, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:616651
Ménétrier Disease	Hypochromic microcytic anemia	ORPHA:2494
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
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D...	OMIM:619975
Holocarboxylase Synthetase Deficiency	Lethargy, Thrombocytopenia	OMIM:253270
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegal...	ORPHA:1775
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ataxia, Lymphoproliferative disorder, ...	OMIM:615688
Rh-Null, Regulator Type	Hemolytic anemia, Jaundice, Stomatocytosis	OMIM:268150
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c...	OMIM:301074
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Thrombocytopeni...	ORPHA:36426
Carney Triad	Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyosarcoma, Lymphadenopathy, Pheo...	ORPHA:139411
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated...	ORPHA:90041
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Alveolar Echinococcosis	Liver abscess, Ataxia, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic ...	ORPHA:284
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Anemia, Hepatomegaly	OMIM:239200
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Malignant genitourinary tra...	ORPHA:125
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Huntington Disease-Like 1	Dysmetria, Gait ataxia, Bradykinesia, Gait disturbance, Abnormal posturing	ORPHA:157941
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Ataxia, Loss of ambulation, Hepatic failure, Anemia	OMIM:607426
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Anemia, Left ventricular hypertrophy, Cholesteatoma, Thrombocytopenia	OMIM:611209
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Microcytic anemia, Visceral angiomatosis, Cavernous hemangioma, Cholecystiti...	ORPHA:774
Adams-Oliver Syndrome	Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Ascites, Thrombocytopenia	ORPHA:974
Attrv122I Amyloidosis	Left ventricular hypertrophy, Anemia, Cardiomegaly	ORPHA:85451
1Q41Q42 Microdeletion Syndrome	Hyposegmentation of neutrophil nuclei	ORPHA:250999
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Akinesia, Poikilocytosis, Acanthocytosis	OMIM:618947
Wilson Disease	Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransf...	OMIM:277900
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Hepatic steatosis, Thrombocytopenia, Elevated hepatic transaminase	ORPHA:99901
Shigellosis	Abscess, Leukocytosis, Peritonitis, Cholestasis, Microangiopathic hemolytic anemia, Splenic absce...	ORPHA:810
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Hepatic fibros...	ORPHA:79240
Telangiectasia, Hereditary Hemorrhagic, Type 2	Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia	OMIM:600376
Mosaic Variegated Aneuploidy Syndrome 1	Nephroblastoma, Leukemia, Embryonal rhabdomyosarcoma	OMIM:257300
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An...	OMIM:615934
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:620075
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Hurler-Scheie Syndrome	Splenomegaly, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Nephronophthisis 4	Anemia	OMIM:606966
Stiff-Person Syndrome	Anemia	OMIM:184850
Avian Influenza	Elevated hepatic transaminase, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:454836
Nephronophthisis 11	Hepatic fibrosis, Anemia	OMIM:613550
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Anemia, Neutropenia, Pancreatitis, Thromboc...	ORPHA:537
Fanconi Anemia, Complementation Group P	Pancytopenia, Anemia, Squamous cell carcinoma	OMIM:613951
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ataxia, Leukocytosis, Jaundice, ...	ORPHA:20
Atelis Syndrome 2	Thrombocytopenia, Anemia, Dysmetria	OMIM:620185
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia, Hepatomegaly	OMIM:619005
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Disseminated cutaneous warts, Abnormal lymphatic vessel morphology, Ascites,...	ORPHA:90362
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Anemia	ORPHA:67
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Ataxia, Bone marrow hypocellularity, Anemia	OMIM:612199
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Oropharyngeal squamous cell carcinoma, Autoimmune thrombocytopenia, ...	ORPHA:391487
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Broad-based gait, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absen...	OMIM:619705
Pulmonary Arteriovenous Malformation	Iron deficiency anemia, Brain abscess, Liver abscess	ORPHA:2038
Vici Syndrome	Left ventricular hypertrophy, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, Neutrope...	OMIM:242840
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
Combined Oxidative Phosphorylation Deficiency 55	Thrombocytopenia, Anemia	OMIM:619743
Whipple Disease	Hepatomegaly, Ataxia, Splenomegaly, Mediastinal lymphadenopathy, Anemia	ORPHA:3452
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma	ORPHA:44890
Kenny-Caffey Syndrome, Type 1	Anemia	OMIM:244460
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Leukopenia, Thrombocytopenia, Hepatomegaly	OMIM:301056
Malt Lymphoma	Mediastinal lymphadenopathy, B-cell lymphoma, Anemia, Lymphadenopathy	ORPHA:52417
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Rift Valley Fever	Elevated hepatic transaminase, Jaundice, Hepatitis, Anemia, Thrombocytopenia	ORPHA:319251
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Simple Cryoglobulinemia	Viral hepatitis, B-cell lymphoma, Chronic lymphatic leukemia, Multiple myeloma, Monoclonal immuno...	ORPHA:91139
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Ataxia, Splenomegaly, Micronodular cirrhosis, Truncal ataxia, Hepatic failure, Asci...	OMIM:301072
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenome...	ORPHA:37042
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:306000
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Enchondroma, Neonatal alloimmune thrombocytopenia, Cardiomegaly, C...	ORPHA:51
Monosomy 22	Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Gonadal neo...	ORPHA:96123
Retinoblastoma	Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Neurofibromatosis Type 1	Astrocytoma, Ataxia, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, ...	ORPHA:636
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Cholangitis	OMIM:614204
Typhoid	Splenomegaly, Ataxia, Lethargy, Hepatomegaly	ORPHA:99745
Cryptococcosis	Lymphoid leukemia, Mediastinal lymphadenopathy, Peritonitis, Neoplasm, Cirrhosis	ORPHA:1546
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia	ORPHA:329971
Non-Functioning Pituitary Adenoma	Anemia of inadequate production	ORPHA:91349
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, M...	OMIM:620005
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk...	ORPHA:790
Senior-Boichis Syndrome	Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con...	ORPHA:84081
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Pi...	ORPHA:97283
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr...	OMIM:619418
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona...	OMIM:619377
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Hepatiti...	OMIM:615846
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Lymphoproliferative disorder, J...	ORPHA:276
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hyperte...	OMIM:619487
Nephronophthisis 1	Anemia	OMIM:256100
Immunodeficiency, Common Variable, 7	Splenomegaly	OMIM:614699
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Limb ataxia, Papilloma, Cutaneous melanoma, Neutro...	ORPHA:51636
Adenohypophysitis	Normochromic anemia	ORPHA:95512
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Anemia, Hepatomegaly	OMIM:612301
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko...	ORPHA:809
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Niemann-Pick Disease, Type C2	Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue his...	OMIM:607625
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Anemia	ORPHA:261323
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thrombocytopenia, Inability to walk, Hepatosplenomegaly, Anemia, Leukopenia, Bone marrow hypocell...	ORPHA:505248
Arteriosclerosis, Severe Juvenile	Anemia	OMIM:208060
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Ataxia, Splenomegaly, Gait disturbance, Sea-blue histiocytosis	OMIM:230600
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Micronodular cirrhosis, Abnormal granulocyte...	ORPHA:98907
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Brucellosis	Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenom...	ORPHA:1304
Noonan Syndrome 2	Leukemia	OMIM:605275
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Lead Poisoning	Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Left ventricular hypertrophy, Thrombocytopenia	ORPHA:79330
Pituitary Apoplexy	Normochromic anemia, Pituitary adenoma	ORPHA:95613
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenop...	ORPHA:293173
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Abscess, Hepatomegaly	OMIM:612852
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Desmoid tumors, Iron deficiency anemia, Osteoma, Hepatoblastoma, Spastic gait	ORPHA:261584
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia,...	ORPHA:100078
Wars2-Related Combined Oxidative Phosphorylation Defect	Ataxia, Dysmetria, Athetosis, Difficulty walking, Thrombocytopenia	ORPHA:572798
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Panhypophysitis	Normochromic anemia	ORPHA:95513
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Anemia, Squamous cell carcinoma	OMIM:226600
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hamartomatous polyposis, Anemia	OMIM:175500
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia, Lethargy	ORPHA:36238
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia	ORPHA:324964
Juvenile Xanthogranuloma	Myeloproliferative disorder	ORPHA:158000
Telangiectasia, Hereditary Hemorrhagic, Type 1	Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia	OMIM:187300
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Hermansky-Pudlak Syndrome 6	Impaired ADP-induced platelet aggregation, Abnormal platelet granules	OMIM:614075
Hamamy Syndrome	Hypochromic anemia, Microcytic anemia	OMIM:611174
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Hepati...	ORPHA:400
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hepatic amyl...	ORPHA:470
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Pachydermoperiostosis	Hepatomegaly, Splenomegaly, Neoplasm of the lung, Neoplasm of the skin, Anemia	ORPHA:2796
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Thrombocytopenia	ORPHA:457351
8P11.2 Deletion Syndrome	Splenomegaly, Hemolytic anemia, Spherocytosis	ORPHA:251066
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:614800
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho...	OMIM:607765
Fish-Eye Disease	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Ascites, Hepatomegaly	ORPHA:2414
Severe Hemophilia A	Anemia	ORPHA:169802
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Enlarged tonsils, Anemia, Leukopenia, Elliptocytosis, Bone marrow hyp...	ORPHA:2785
Dubowitz Syndrome	Acute lymphoblastic leukemia, Neuroblastoma, Lymphoma, Aplastic anemia	OMIM:223370
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly, Abnormal lymph node morphology, Decreased live...	ORPHA:85450
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Dyskeratosis Congenita, Digenic	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Anemia	OMIM:620040
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Splenomegaly, Juvenile myelomonocytic leukemia, Hepatosplenomegaly	OMIM:613563
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure...	OMIM:276700
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Anemia	OMIM:620331
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Broad-based gait, Abnormality of the spleen, Splenomegaly, Limb ataxia, Hepatosplen...	ORPHA:2072
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure	ORPHA:664
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Lymphoproliferative disorder, Lymphoma, Biliary cirr...	ORPHA:289390
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
Bacterial Toxic-Shock Syndrome	Abscess, Peritonitis, Hepatitis, Increased circulating myelocyte count, Increased circulating met...	ORPHA:36234
Lymphatic Malformation 7	Ascites, Anemia	OMIM:617300
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Ataxia, Increased mean platelet volume	OMIM:616737
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Ren...	OMIM:260920
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Chole...	OMIM:618641
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula...	OMIM:235200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Anemia	OMIM:620358
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Ataxia, Hepatomegaly	ORPHA:134
Short Stature With Microcephaly And Distinctive Facies	Anisopoikilocytosis, Anemia	OMIM:615789
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Glioma, Rhabdomyosarcoma, Medulloblastoma, Lymphoma, T lymphocytopen...	OMIM:251260
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Camurati-Engelmann Disease	Waddling gait, Bone marrow hypocellularity, Anemia	OMIM:131300
Pneumocystosis	Neoplasm, Abnormal neutrophil count	ORPHA:723
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure	OMIM:615630
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp...	ORPHA:731
Fabry Disease	Left ventricular hypertrophy, Anemia	OMIM:301500
Renal Hypoplasia, Bilateral	Lethargy, Anemia	ORPHA:97362
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Mosaic Variegated Aneuploidy Syndrome	Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Acute lymphoblastic leukemia, Neoplasm, Nephr...	ORPHA:1052
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thrombocytopenia, Capillary hemangioma, Anemia, Absent gallbladder	ORPHA:163979
Gaucher Disease	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Hepatitis, Anemia, Cirrhosis, Thrombocytopenia	ORPHA:355
Alport Syndrome 1, X-Linked	Diffuse leiomyomatosis, Thrombocytopenia	OMIM:301050
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Juvenile Polyposis Syndrome	Duodenal adenocarcinoma, Anemia	OMIM:174900
Budd-Chiari Syndrome	Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Portal hypertension, Splenome...	ORPHA:131
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Exocrine pancreatic insufficiency	ORPHA:309031
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Abnormal posturing, Tip-toe gait, Gait disturbance	ORPHA:216866
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp...	OMIM:300755
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:252920
Macrocephaly/Autism Syndrome	Splenomegaly, Lymphopenia, Hepatomegaly	OMIM:605309
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Multiple Myeloma	Splenomegaly, Anemia, Lymphadenopathy	ORPHA:29073
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:85414
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Gait disturbance, Difficulty walking, Anemia	ORPHA:90321
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Leukocytosis, Fulminant hepatitis, Leukopenia, Lymphopenia, Thromb...	ORPHA:319213
Legionnaires Disease	Ataxia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphope...	ORPHA:549
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis	OMIM:613385
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Hardikar Syndrome	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy...	OMIM:301068
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Sheehan Syndrome	Normochromic anemia	ORPHA:91355
Gm1-Gangliosidosis, Type I	Splenomegaly, Vacuolated lymphocytes, Hepatomegaly	OMIM:230500
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Splenomegaly, Abnormal ...	OMIM:216360
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hepatomegaly, Broad-based gait, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:280000
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Al Amyloidosis	Hepatomegaly, Abnormality of the liver, Howell-Jolly bodies, Anemia	ORPHA:85443
Deeah Syndrome	Decreased hemoglobin concentration, Exocrine pancreatic insufficiency, Thrombocytopenia, Hepatome...	OMIM:619004
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Lymphoma	ORPHA:2526
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Ellis Van Creveld Syndrome	Acute leukemia	ORPHA:289
Tangier Disease	Left ventricular hypertrophy, Splenomegaly, Hepatomegaly	OMIM:205400
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp...	ORPHA:97685
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia	ORPHA:49041
Immunodeficiency 67	Transient neutropenia, Liver abscess	OMIM:607676
Acute Adrenal Insufficiency	Normocytic anemia	ORPHA:95409
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly	OMIM:618541
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Hepatosplenomegaly	OMIM:301081
Juvenile Sialidosis Type 2	Hepatomegaly, Ataxia, Dysmetria, Hepatosplenomegaly, Loss of ambulation, Visceromegaly	ORPHA:93399
Hereditary Mixed Polyposis Syndrome	Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid car...	ORPHA:157794
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver	ORPHA:91138
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ...	ORPHA:84064
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Limb ataxia, Gait ataxia	OMIM:248500
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis	OMIM:249100
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Lethargy, Hilar lymph node ...	OMIM:620233
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Enlarged polycystic ovaries, Lymphoma, Biliary cirrhosis, Hodgkin lymphoma, Leu...	ORPHA:2298
Sporadic Infantile Bilateral Striatal Necrosis	Titubation, Bradykinesia, Gait ataxia, Gait disturbance, Abnormal posturing	ORPHA:225147
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Anemia, Pancreatic aplasia	OMIM:609069
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly	OMIM:252900
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Hypersplen...	ORPHA:275761
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Microcytic anemia, Splenomegaly, Lymph...	OMIM:256040
Chime Syndrome	Acute leukemia	ORPHA:3474
Poikiloderma With Neutropenia	Splenomegaly, Leukopenia, Neutropenia	OMIM:604173
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Fibular Hemimelia	Difficulty walking, Thrombocytopenia	ORPHA:93323
Scrub Typhus	Splenomegaly, Lethargy, Lymphadenopathy	ORPHA:83317
Wolfram Syndrome	Abnormal mesentery morphology, Ataxia, Anemia	ORPHA:3463
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Trichohepatoenteric Syndrome 1	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice...	OMIM:222470
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormality of the liver, Ascites, Thrombocytopenia	ORPHA:464321
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Facial capillary hemangioma, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, An...	OMIM:274000
Dopamine Beta-Hydroxylase Deficiency	Anemia	ORPHA:230
Primary Hyperoxaluria Type 1	Anemia	ORPHA:93598
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen...	OMIM:232220
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Ataxia, Lethargy, Hepatomegaly	OMIM:201100
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Decreased l...	ORPHA:367
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatiti...	ORPHA:2137
Rubinstein-Taybi Syndrome 1	Accessory spleen, Unsteady gait, Papillary cystadenoma of the epididymis, Neoplasm, Hepatic heman...	OMIM:180849
Noonan Syndrome 3	Juvenile myelomonocytic leukemia	OMIM:609942
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Cirrhosis, Hep...	ORPHA:465508
Camurati-Engelmann Disease	Waddling gait, Hepatomegaly, Ataxia, Splenomegaly, Leukopenia, Anemia	ORPHA:1328
Renal Nutcracker Syndrome	Anemia	ORPHA:71273
Arima Syndrome	Hepatomegaly, Ataxia, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia	OMIM:243910
Down Syndrome	Myeloproliferative disorder, Acute megakaryocytic leukemia	OMIM:190685
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Leukocytosis, Pancreatitis, Thrombocytopenia	ORPHA:544482
Poland Syndrome	Retinal hamartoma, Abnormality of the liver, Neoplasm of the breast, Acute leukemia	ORPHA:2911
American Trypanosomiasis	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:3386
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Hepatic s...	ORPHA:247598
Tick-Borne Encephalitis	Elevated hepatic transaminase, Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:297
Chronic Thromboembolic Pulmonary Hypertension	Neoplasm, Myeloproliferative disorder	ORPHA:70591
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Noonan Syndrome 1	Neurofibrosarcoma, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia	OMIM:163950
Rat-Bite Fever	Abdominal aseptic abscess, Lymphadenitis, Pancreatitis, Anemia	ORPHA:31205
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Nephroblastoma, Ependymoma, Annular pancreas, Teratoma, Hepatoblastoma, ...	ORPHA:798
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Thrombocytosis, Leukocytosis, Thrombocytopenia	ORPHA:94093
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Splenomegaly, Congenita...	ORPHA:1454
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Thrombocytopenia, Leukocytosis, Anemia	ORPHA:340
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Cavernous hemangioma, Right ventricular hype...	OMIM:616028
Kenny-Caffey Syndrome, Type 2	Anemia	OMIM:127000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Anemia	OMIM:174000
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Scheie Syndrome	Splenomegaly, Hepatomegaly	ORPHA:93474
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Chronic neutropenia, Hepatocellular adenoma, Enlarged kidney, Hepatocellular carcin...	ORPHA:79259
Yellow Fever	Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentration, ...	ORPHA:99829
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Iron deficiency anemia	ORPHA:93315
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Increased T cell count, Abnorm...	ORPHA:797
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Pancytopenia, Neutrophilia, Acute pancreatitis, Splenomegaly, Leukocytosis, Jaundic...	ORPHA:99827
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Lymphadenopathy, Anemia, Hepatomegaly	ORPHA:667
Alg12-Cdg	Elevated hepatic transaminase, B lymphocytopenia, Thrombocytopenia	ORPHA:79324
Biotinidase Deficiency	Splenomegaly, Ataxia, Lethargy, Hepatomegaly	OMIM:253260
Multiple Sulfatase Deficiency	Splenomegaly, Ataxia, Hepatomegaly	OMIM:272200
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Hep...	OMIM:602782
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hamartomatous polyposis, Juvenile gastrointestinal polyposis, Hepatic arteriovenous malformation,...	OMIM:175050
Jacobsen Syndrome	Annular pancreas, Thrombocytopenia	OMIM:147791
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Abnormality of the lymphatic system, Increased mean platelet volume	ORPHA:487796
Hepatoerythropoietic Porphyria	Erythroid hyperplasia, Hemolytic anemia, Splenomegaly	ORPHA:95159
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Myelodysplasia, Thrombocytopenia, Leukopenia, Abnorma...	ORPHA:84
Dystonia 1, Torsion, Autosomal Dominant	Inability to walk, Abnormal posturing	OMIM:128100
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, B-cell lymphoma, Follicular hyperplasia, Splenomegaly, Hep...	OMIM:619381
Acute Liver Failure	Elevated hepatic transaminase, Ataxia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necr...	ORPHA:90062
Exercise-Induced Malignant Hyperthermia	Ataxia, Decreased liver function, Lethargy, Hepatic failure, Thrombocytopenia	ORPHA:466650
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Elevated serum transaminases during infection...	ORPHA:509
Primary Triglyceride Deposit Cardiomyovasculopathy	Splenomegaly, Vacuolated lymphocytes, Pancreatitis, Hepatomegaly	ORPHA:565612
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Squamous cell carcinoma, Iron deficiency anemia, Basal cell carcinoma, Cutaneous melanoma, Anemia	ORPHA:79408
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Prolonged neonatal jaundice, Decreased proportion of class-switched memory B cells	OMIM:233600
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Dpagt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Akinesia, Inability to walk, Anemia	ORPHA:86309
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati...	OMIM:610199
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas...	OMIM:613471
Autosomal Dominant Kenny-Caffey Syndrome	Anemia	ORPHA:93325
Familial Tumoral Calcinosis	Splenomegaly, Neoplasm of the skin, Hepatomegaly	ORPHA:53715
Degcags Syndrome	Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Cholestasis, Hepatosplenomegaly, Leuko...	OMIM:619488
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Normochromic anemia, Reduced hematocrit	ORPHA:91500
Digeorge Syndrome	Splenomegaly, Anemia, Abnormal thymus morphology, Hypoplasia of the thymus, Cholelithiasis, Hepat...	OMIM:188400
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:618019
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney	OMIM:200995
Cornelia De Lange Syndrome 1	Duplication of internal organs, Thrombocytopenia	OMIM:122470
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Gait disturbance, Anemia	ORPHA:3042
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Thrombocytopenia, Lymphadenopathy	ORPHA:79078
Blau Syndrome	Clear cell renal cell carcinoma, Splenomegaly, Lymphadenopathy, Abnormality of the liver, Anemia	ORPHA:90340
Jacobsen Syndrome	Annular pancreas, Bone marrow hypocellularity, Thrombocytopenia	ORPHA:2308
Roberts Syndrome	Midface capillary hemangioma, Thrombocytopenia	ORPHA:3103
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno...	ORPHA:2388
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy	ORPHA:32960
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly	OMIM:615947
Glycogen Storage Disease Ic	Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hepatocellular carcinoma, Hepatoblastoma	OMIM:232240
Gitelman Syndrome	Neoplasm of the pancreas, Iron deficiency anemia, Parathyroid adenoma	ORPHA:358
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Nephroblastoma	OMIM:612918
Oculocerebrorenal Syndrome Of Lowe	Benign neoplasm of the central nervous system, Thrombocytopenia, Odontogenic neoplasm, Neoplasm o...	ORPHA:534
22Q11.2 Deletion Syndrome	Abnormality of the tonsils, Abnormality of thrombocytes, Splenomegaly, Hypoplasia of the thymus, ...	ORPHA:567
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Waddling gait, Cavernous hemangioma of the face, Cavernous hemangioma, Acute myelomonocytic leuke...	ORPHA:99646
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	OMIM:181000
Sotos Syndrome	Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Acute lymphoblastic leukemia, Ne...	ORPHA:821
Osteogenesis Imperfecta	Ataxia, Visceral angiomatosis, Gait disturbance, Loss of ambulation, Thrombocytopenia	ORPHA:666
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly	OMIM:612132
Aspartylglucosaminuria	Hepatomegaly, Vacuolated lymphocytes, Neutropenia	OMIM:208400
Unilateral Polymicrogyria	Abnormal posturing	ORPHA:268943

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 Smap1

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 Smap1.

No publications found that use IMPC mice or data for Smap1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Smap1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Smap1^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Smap1^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Smap1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Smap1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Smap1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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