Gene: Add1 MGI:87918

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

adducin 1 (alpha)

Synonyms:

N/A

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 Add1 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 Add1 (1 diseases)
Human diseases predicted to be associated with Add1 (865 diseases)

The table below shows human diseases associated to Add1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hypertension, Essential			OMIM:145500

The table below shows human diseases predicted to be associated to Add1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Methemoglobin Reductase Deficiency	Abnormal erythrocyte morphology	OMIM:250700
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Diamond-Blackfan Anemia 19	Steroid-responsive anemia, Anemia, Erythroid hypoplasia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Spherocytosis, Type 2	Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis	OMIM:616649
Cyanosis, Transient Neonatal	Methemoglobinemia, Reticulocytosis, Anemia	OMIM:613977
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly	OMIM:612653
Immunodeficiency 69	Failure to thrive, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, ...	OMIM:618963
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Solute carrier family 4 (anion exchanger), member 1	Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re...	OMIM:109270
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly	OMIM:182900
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti...	ORPHA:766
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly	OMIM:237800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia	ORPHA:231393
Asplenia, Isolated Congenital	Thrombocytosis, Asplenia, Howell-Jolly bodies	OMIM:271400
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Glut1 Deficiency Syndrome 2	Increased CSF lactate, Splenomegaly, Hypoglycorrhachia, Hemolytic anemia, Reticulocytosis	OMIM:612126
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis	OMIM:266140
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto...	OMIM:615631
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Porphyria, Acute Hepatic	Hemolytic anemia, Failure to thrive	OMIM:612740
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis	OMIM:603529
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m...	OMIM:616689
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Bleeding Disorder, Platelet-Type, 16	Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane...	OMIM:187800
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ...	ORPHA:86841
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis	ORPHA:33574
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Sickle Cell Anemia	Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Anemia	OMIM:615234
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Storage Pool Platelet Disease	Acute leukemia, Decreased mean platelet volume	OMIM:185050
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Splenomegaly	OMIM:179700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an...	ORPHA:444463
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Splenomegaly	ORPHA:46532
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis	OMIM:301083
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc...	ORPHA:75564
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Rh Deficiency Syndrome	Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia...	ORPHA:71275
Cryohydrocytosis	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly	OMIM:185020
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:228312
Anemia, Congenital Dyserythropoietic, Type Ii	Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187950
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Splenomegaly, Small for gestational age, Anisocytosis, Schistocy...	OMIM:224120
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly	ORPHA:294
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre...	OMIM:603902
Aicardi-Goutieres Syndrome 6	Hemolytic anemia	OMIM:615010
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Alpha-Thalassemia	Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism	ORPHA:846
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia	OMIM:618660
Hereditary Spherocytosis	Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, Spontaneous hemolytic crises, ...	ORPHA:822
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani...	OMIM:613673
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:314050
Bleeding Disorder, Platelet-Type, 24	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619271
Bleeding Disorder, Platelet-Type, 15	Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis	OMIM:615193
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Beemer Lethal Malformation Syndrome	Hydrocephalus, Thrombocytopenia	OMIM:209970
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis	ORPHA:90044
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia	OMIM:300653
Iron-Refractory Iron Deficiency Anemia	Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis	OMIM:206200
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities	Hemolytic anemia, Hepatosplenomegaly	OMIM:600461
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem...	ORPHA:3202
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites	Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia	OMIM:141700
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia	OMIM:604416
Immunodeficiency 27A	Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Weight loss, Anemia	OMIM:209950
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase level	OMIM:615909
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Thrombocytopenia	OMIM:166990
Immunodeficiency 52	Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo...	OMIM:617514
Glycogen Storage Disease Vii	Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis	OMIM:232800
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly	OMIM:185000
Beemer-Ertbruggen Syndrome	Thrombocytopenia, Communicating hydrocephalus	ORPHA:1237
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Decreased mean corpuscular volume, Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Retic...	OMIM:611590
Icf Syndrome	Abnormality of neutrophils, Anemia, Lymphopenia, Communicating hydrocephalus	ORPHA:2268
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia	ORPHA:54057
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:206100
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis	OMIM:300367
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr...	ORPHA:35858
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia	OMIM:245900
Thrombocytopenia 1	Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume	OMIM:313900
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope...	OMIM:610629
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye...	OMIM:619041
Primary Myelofibrosis	Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy...	ORPHA:824
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Splenomegaly, Hypochromic microcytic anemia, B lymphocytopenia, Communicating hydrocephalus, Schi...	OMIM:616084
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Reticulocytosis, Normochromic a...	OMIM:235700
Hereditary Elliptocytosis	Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, Elliptocytosis, Stom...	ORPHA:288
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:300448
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt...	OMIM:300908
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Splenomegaly	OMIM:618892
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop...	OMIM:614470
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia	OMIM:261000
Wiskott-Aldrich Syndrome, Autosomal Dominant	Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla...	OMIM:600903
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox...	OMIM:206000
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Sitosterolemia 1	Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ...	OMIM:210250
Pyruvate Kinase Deficiency Of Red Cells	Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Reticulocytosis, Eryt...	OMIM:266200
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi...	OMIM:155100
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia	OMIM:205950
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia	OMIM:301015
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis	ORPHA:713
Hereditary Cryohydrocytosis With Reduced Stomatin	Hepatosplenomegaly, Hypoglycorrhachia, Spontaneous hemolytic crises, Communicating hydrocephalus,...	ORPHA:168577
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia	OMIM:153550
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Thrombocytopenia, Lymphopenia	OMIM:616744
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia	OMIM:616176
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Thrombocytosis, Coombs-positive hemolytic anemia, Asplenia	OMIM:614034
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly	OMIM:153670
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Splenomegaly, Increased red cell hemolysis by shear stress, Increased mean corpuscular hemoglobin...	OMIM:194380
Elliptocytosis 1	Hemolytic anemia, Elliptocytosis, Splenomegaly	OMIM:611804
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia, Increased CSF protein	OMIM:612300
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ...	OMIM:231200
Megaloblastic Anemia, Folate-Responsive	Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Episodic hemolyti...	OMIM:601775
Orotic Aciduria	Hypochromia, Failure to thrive, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocy...	OMIM:258900
Erythrocytosis, Familial, 4	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:611783
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, T...	OMIM:615285
Erythrocytosis, Familial, 5	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617907
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor...	ORPHA:98870
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis	OMIM:268150
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Nephronophthisis	Anemia	ORPHA:655
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Erythrocytosis, Familial, 8	Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia	OMIM:222800
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit	OMIM:609820
Congenital Atransferrinemia	Anemia	ORPHA:1195
Pontocerebellar Hypoplasia, Type 15	Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Fechtner syndrome	Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets	OMIM:153640
Myh9-Related Disease	Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p...	ORPHA:182050
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a...	OMIM:615550
8P11.2 Deletion Syndrome	Hemolytic anemia, Spherocytosis, Splenomegaly	ORPHA:251066
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Wiskott-Aldrich Syndrome	Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr...	OMIM:301000
Hb Bart'S Hydrops Fetalis	Anemia, Hydrocephalus, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Erythrocytosis, Familial, 6	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617980
Systemic Lupus Erythematosus	Hemolytic anemia, Leukopenia, Thrombocytopenia	OMIM:152700
Babesiosis	Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly	ORPHA:108
Adenosine Triphosphate, Elevated, Of Erythrocytes	Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration	OMIM:102900
Protoporphyria, Erythropoietic, 1	Hemolytic anemia	OMIM:177000
Diamond-Blackfan Anemia 4	Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612527
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis	OMIM:274150
Erythroleukemia, Familial, Susceptibility To	Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia	OMIM:133180
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia	OMIM:618849
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Erythrocytosis, Familial, 7	Polycythemia, Increased hematocrit	OMIM:617981
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hypoglycorrhachia, Splenomegaly	OMIM:608885
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis	OMIM:235400
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Erythrocytosis, Familial, 1	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly	OMIM:133100
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia	OMIM:615399
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia	OMIM:616959
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion...	OMIM:619375
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly, Anemia, Thrombocytopenia, Failure to thrive in infancy	ORPHA:858
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, V...	OMIM:304790
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Neonatal Lupus Erythematosus	Hydrocephalus, Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia...	ORPHA:398124
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased mean corpuscular volume, Failure to thrive, Leukocytosis, Anisocytosis, Hepatosplenomeg...	OMIM:618278
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg...	OMIM:601859
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Autoimmune Hemolytic Anemia	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:98375
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Lymphopenia, Leukopenia, Thrombocytosis, Anemia	OMIM:615934
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Cold Agglutinin Disease	Hemolytic anemia, Splenomegaly	ORPHA:56425
Pelger-Huet Anomaly	Failure to thrive, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant plate...	OMIM:169400
Developmental And Epileptic Encephalopathy 50	Anemia, Anisopoikilocytosis, Acanthocytosis, Schistocytosis	OMIM:616457
Diamond-Blackfan Anemia 5	Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612528
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Thrombocytopenia 7	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619130
Acute Erythroid Leukemia	Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia	ORPHA:318
Erythrocytosis, Familial, 2	Increased red blood cell mass, Failure to thrive, Increased hemoglobin, Increased hematocrit	OMIM:263400
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe...	ORPHA:300298
Beta-Thalassemia	Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia	ORPHA:848
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia	OMIM:612922
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Thrombocytosis, Iron deficiency anemia	OMIM:226300
3-Methylglutaconic Aciduria, Type Viia	Anemia, Anisopoikilocytosis, Neutropenia	OMIM:619835
Galactosemia I	Hemolytic anemia, Failure to thrive	OMIM:230400
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia	OMIM:612926
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis	OMIM:608898
Immunodeficiency 92	Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi...	OMIM:619652
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Fanconi Anemia, Complementation Group T	Anemia, Thrombocytopenia, Pancytopenia	OMIM:616435
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia	OMIM:612925
Immunodeficiency 46	Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Impaired neutrophil bactericidal a...	OMIM:613470
Paroxysmal Cold Hemoglobinuria	Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia	ORPHA:90035
Hydrocephalus, Congenital Communicating, 1	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis	OMIM:247800
Proteus-Like Syndrome	Thymus hyperplasia, Hydrocephalus, Communicating hydrocephalus, Splenomegaly	ORPHA:2969
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Thrombocytosis, Weight loss, Acute myeloid leukemia	ORPHA:71493
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Splenomegaly, Hepatosplenomegaly, Ventriculomegaly, Pancytopenia, CSF lymphocytic ...	OMIM:610333
Autoerythrocyte Sensitization Syndrome	Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte mor...	ORPHA:324636
Blackfan-Diamond Anemia	Increased mean corpuscular volume, Neutropenia, Small for gestational age, Persistence of hemoglo...	ORPHA:124
Ciliary Dyskinesia, Primary, 1	Asplenia, Communicating hydrocephalus	OMIM:244400
Sickle Cell Anemia	Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Increased red cell sickling tendency	OMIM:603903
Lcat Deficiency	Hemolytic anemia	ORPHA:650
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia	ORPHA:57
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor...	OMIM:243150
Celiac Disease, Susceptibility To, 1	Failure to thrive, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Weight loss	OMIM:212750
Interstitial Lung And Liver Disease	Thrombocytosis, Anemia, Failure to thrive	OMIM:615486
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg...	OMIM:603909
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age	ORPHA:621
Dk Phocomelia Syndrome	Encephalocele, Thrombocytopenia	OMIM:223340
Kasabach-Merritt Syndrome	Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anemia, Thrombocytop...	ORPHA:2330
Diamond-Blackfan Anemia 20	Anemia, Erythroid hypoplasia	OMIM:618313
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Failure to thrive, Hydrocephalus, Neutropenia, Macrocytic anem...	ORPHA:2169
Idiopathic Aplastic Anemia	Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:88
Chylomicron Retention Disease	Failure to thrive, Acanthocytosis	ORPHA:71
Cogan Syndrome	Thrombocytosis, Anemia, Leukocytosis	ORPHA:1467
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Weight loss, Reduced natural killer cell c...	OMIM:301074
Anemia, Sideroblastic, 1	Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ...	OMIM:300751
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Thrombocytopenia, Splenomegaly	ORPHA:169090
Poems Syndrome	Polycythemia, Thrombocytosis, Weight loss	ORPHA:2905
Triosephosphate Isomerase Deficiency	Failure to thrive, Splenomegaly, Normocytic anemia, Macrocytic anemia, Hemolytic anemia, Chronic ...	OMIM:615512
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Failure to thrive, Leukocytosis, Hypochromic anemia	OMIM:618213
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Hypobetalipoproteinemia, Familial, 1	Acanthocytosis	OMIM:615558
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	OMIM:619220
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia	ORPHA:90038
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic ...	OMIM:606367
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Colpocephaly, Ventriculomegaly, Communicating hydrocephalus	OMIM:615219
Tempi Syndrome	Polycythemia, Increased hematocrit	ORPHA:284227
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Leukopenia, Thrombocytosis, Weight loss, Anemia	ORPHA:20
Short Stature With Microcephaly And Distinctive Facies	Anemia, Decreased body weight, Anisopoikilocytosis, Small for gestational age	OMIM:615789
Formiminoglutamic Aciduria	Megaloblastic anemia, Anemia	ORPHA:51208
Beta-Ketothiolase Deficiency	Thrombocytosis, Weight loss, Leukocytosis	ORPHA:134
Cole-Carpenter Syndrome 1	Hydrocephalus, Communicating hydrocephalus	OMIM:112240
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ...	ORPHA:231214
Hellp Syndrome	Increased body weight, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Mic...	ORPHA:244242
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia	OMIM:608184
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	OMIM:273730
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot...	ORPHA:274
Transcobalamin Ii Deficiency	Failure to thrive, Macrocytic anemia, Pancytopenia, Neutropenia, Reticulocytopenia	OMIM:275350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Abcd Syndrome	Polycythemia, Large for gestational age, Neonatal death	OMIM:600501
Alpha-Mannosidosis, Infantile Form	Hepatosplenomegaly, Communicating hydrocephalus, Pancytopenia	ORPHA:309282
Diamond-Blackfan Anemia 1	Failure to thrive, Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, ...	OMIM:105650
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphopenia, Splenomegaly, Hepatosplenomegaly, Hemolytic anemia, Impaired oxidative burst	OMIM:618935
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Failure to thrive, Microcytic anemia	ORPHA:98791
Pericardial Effusion, Chronic	Polycythemia	OMIM:260900
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Immunodeficiency With Hyper-Igm, Type 1	Failure to thrive, Splenomegaly, Hemolytic anemia, Neutropenia, Thrombocytopenia	OMIM:308230
Common Variable Immunodeficiency	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Failure to thrive in in...	ORPHA:1572
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Hydrocephalus With Cerebellar Agenesis	Hydrocephalus	OMIM:307010
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Copper Deficiency, Familial Benign	Failure to thrive, Anemia	OMIM:121270
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Pancytop...	OMIM:615688
Krabbe Disease	Failure to thrive, Hydrocephalus, Autoimmune thrombocytopenia, Increased CSF protein	OMIM:245200
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Myasthenia Gravis	Hemolytic anemia, Pure red cell aplasia	ORPHA:589
Orthostatic Hypotension 2	Anemia	OMIM:618182
Lathosterolosis	Myelomeningocele, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Increa...	OMIM:607330
Bleeding Disorder, Platelet-Type, 17	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187900
Amme Complex	Elliptocytosis	OMIM:300194
Acute Bilirubin Encephalopathy	Hemolytic anemia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hemolytic anemia	ORPHA:529808
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Failure to thrive, Dilated fourth ventricle	OMIM:212065
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Pineocytoma	Hydrocephalus, Increased CSF protein	ORPHA:251912
Maternal Uniparental Disomy Of Chromosome 4	Decreased body weight, Acanthocytosis, Abnormal erythrocyte morphology	ORPHA:96180
Mcleod Syndrome	Acanthocytosis, Splenomegaly	OMIM:300842
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Dohle Bodies And Leukemia	Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia	OMIM:223350
Glutaryl-Coa Dehydrogenase Deficiency	Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus	ORPHA:25
Aregenerative Anemia	Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport...	ORPHA:101096
Lathosterolosis	Failure to thrive, Anisopoikilocytosis, Abnormal platelet morphology, Meningocele, Thrombocytopenia	ORPHA:46059
Hepatocellular Carcinoma	Polycythemia, Thrombocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:88673
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c, Small for gestational age	OMIM:619278
Trichohepatoenteric Syndrome 1	Failure to thrive, Small for gestational age, Splenomegaly, Increased mean platelet volume, Throm...	OMIM:222470
Glycogen Storage Disease Xii	Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Anemia, Normochromic anemia	OMIM:611881
Immunodeficiency 23	Failure to thrive, Lymphopenia, Eosinophilia, Hemolytic anemia, Neutropenia	OMIM:615816
Oslam Syndrome	Anemia	OMIM:165660
Syndromic Diarrhea	Lymphopenia, Splenomegaly, Small for gestational age, Hypoplasia of the thymus, Increased mean pl...	ORPHA:84064
Congenital Erythropoietic Porphyria	Splenomegaly, Anisocytosis, Leukopenia, Hemolytic anemia, Poikilocytosis, Reticulocytosis, Thromb...	ORPHA:79277
Catastrophic Antiphospholipid Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia, Coombs-positive hemolytic anemia	ORPHA:464343
Shprintzen-Goldberg Syndrome	Failure to thrive, Ventriculomegaly, Communicating hydrocephalus	ORPHA:2462
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Thrombocytopenia, Ventriculomegaly	OMIM:616737
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Small for gestational age	OMIM:618858
Aicardi-Goutieres Syndrome 9	Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Weight loss, Anemia	OMIM:619487
Idiopathic Hypereosinophilic Syndrome	Failure to thrive, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinop...	ORPHA:3260
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Hydrocephalus, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia	OMIM:259700
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Albers-Schönberg Osteopetrosis	Anemia, Hydrocephalus, Abnormal leukocyte morphology	ORPHA:53
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph...	ORPHA:3261
Immunodeficiency 64	Failure to thrive, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells...	OMIM:618534
Paroxysmal Nocturnal Hemoglobinuria	Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, Hemolytic anemia, Pancytopenia, A...	ORPHA:447
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Overweight	OMIM:619769
Brucellosis	Failure to thrive, Leukocytosis, Splenomegaly, Small for gestational age, Leukopenia, Thrombocyto...	ORPHA:1304
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Episodic hemolytic anemia	ORPHA:251004
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A...	OMIM:616860
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:618495
Pgm3-Cdg	Failure to thrive, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese...	ORPHA:443811
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Shwachman-Diamond Syndrome 1	Failure to thrive, Small for gestational age, Persistence of hemoglobin F, Pancytopenia, Neutrope...	OMIM:260400
Immunodeficiency 31C	Autoimmune hemolytic anemia, Lymphopenia	OMIM:614162
Lymphoproliferative Syndrome 1	Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe...	OMIM:613011
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Abetalipoproteinemia	Anemia, Failure to thrive, Reticulocytosis, Acanthocytosis	ORPHA:14
Thakker-Donnai Syndrome	Communicating hydrocephalus	ORPHA:1780
Infantile Sialic Acid Storage Disease	Failure to thrive, Hydrocephalus, Vacuolated lymphocytes, Splenomegaly	OMIM:269920
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Gamma-Heavy Chain Disease	Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmune hemolytic a...	ORPHA:100026
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia, Colpocephaly, Ventriculomegaly	ORPHA:261250
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Leukopenia, Thrombocytopenia, Lymphopenia	ORPHA:93552
Edinburgh Malformation Syndrome	Failure to thrive, Hydrocephalus	OMIM:129850
Arthrogryposis Multiplex Congenita 5	Poikilocytosis, Normocytic anemia, Acanthocytosis	OMIM:618947
Pearson Syndrome	Increased CSF lactate, Neutropenia, Splenomegaly, Anemia, Small for gestational age, Hypoplastic ...	ORPHA:699
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c, Small for gestational age	OMIM:606176
Mixed Connective Tissue Disease	Hemolytic anemia, Leukopenia, Splenomegaly	ORPHA:809
Fanconi Anemia, Complementation Group E	Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul...	OMIM:600901
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612562
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Thrombocytopenia, Splenomegaly	OMIM:263700
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le...	OMIM:619374
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Abnormal mast cell morphology	ORPHA:398189
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Wiskott-Aldrich Syndrome	Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platelet function...	ORPHA:906
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Large for gestational age, Slender build, Ventriculomegaly, Communicating hydrocephalus	ORPHA:457359
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Splenomegaly	ORPHA:580
Fanconi Anemia, Complementation Group A	Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul...	OMIM:227650
Beta-Thalassemia Intermedia	Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E...	ORPHA:231222
Neuroleptic Malignant Syndrome	Thrombocytosis, Thrombocytopenia, Leukocytosis	ORPHA:94093
Thymic Aplasia	Decreased proportion of naive T cells, Failure to thrive, Coombs-positive hemolytic anemia, Aplas...	ORPHA:83471
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Leukemia, Ventriculomegaly	OMIM:602501
Nijmegen Breakage Syndrome	Cachexia, Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia	ORPHA:647
Band Heterotopia	Hydrocephalus, Ventriculomegaly	OMIM:600348
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Weight loss, Leukemia	ORPHA:99867
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia	OMIM:603585
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers...	ORPHA:231226
Diamond-Blackfan Anemia 10	Steroid-responsive anemia, Anemia, Reticulocytopenia, Macrocytic anemia	OMIM:613309
Essential Thrombocythemia	Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology, Splenomegaly	ORPHA:3318
Methylmalonic Acidemia With Homocystinuria	Failure to thrive, Hydrocephalus	ORPHA:26
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	HbH hemoglobin, Obesity, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:141750
1Q21.1 Microduplication Syndrome	Failure to thrive, Hydrocephalus	ORPHA:250994
Griscelli Syndrome	Hydrocephalus, Splenomegaly, Leukopenia, Abnormality of neutrophils, Encephalocele, Thrombocytopenia	ORPHA:381
Shwachman-Diamond Syndrome	Increased mean corpuscular volume, Failure to thrive, Neutropenia, Leukopenia, Aplastic anemia, N...	ORPHA:811
Osteootohepatoenteric Syndrome	Anemia, Failure to thrive, Hydrocephalus, Weight loss	OMIM:619377
Shigellosis	Splenic abscess, Leukocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Failure to th...	ORPHA:810
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hydrocephalus, Hypochromic anemia	ORPHA:2720
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Mirage Syndrome	Hydrocephalus, Decreased body weight, Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thromb...	OMIM:617053
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Failure to thrive, Neutropenia, Sideroblastic anemia, Small for gestational a...	OMIM:557000
Aicardi-Goutieres Syndrome 7	Splenomegaly, Hemolytic anemia, Weight loss, Pancytopenia, Anemia, Thrombocytopenia	OMIM:615846
Nasu-Hakola Disease	Hydrocephalus, Acute leukemia, Ventriculomegaly	ORPHA:2770
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Thrombocytopenia, Ventriculomegaly, Dandy-Walker malformation	ORPHA:487796
Fanconi Anemia, Complementation Group C	Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul...	OMIM:227645
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Diencephalic Syndrome	Cachexia, Hydrocephalus, Decreased body weight	ORPHA:1672
Epilepsy, Pyridoxine-Dependent	Hydrocephalus	OMIM:266100
Purine Nucleoside Phosphorylase Deficiency	Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegal...	OMIM:613179
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:508542
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Hydrocephalus, Splenomegaly, Ventriculomegaly, Pancytopenia, Thrombocytopenia	OMIM:614576
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Autoimmune hemo...	OMIM:301078
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Leukopenia, Elliptocytosis, Pancytopenia, Anemia, Thrombocytopenia	ORPHA:2785
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Failure to thrive, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal...	ORPHA:331206
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Hypo...	OMIM:259720
Immunodeficiency 87 And Autoimmunity	Lymphopenia, Small for gestational age, Thrombocytopenia, Hemolytic anemia, Decreased proportion ...	OMIM:619573
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mild fetal ventriculomegaly, Communicating hydrocephalus	OMIM:619841
Developmental And Epileptic Encephalopathy 49	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:617281
Distal Renal Tubular Acidosis	Hemolytic anemia, Failure to thrive	ORPHA:18
Leukocyte Adhesion Deficiency	Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Thrombocytosis, Impaired platelet agg...	ORPHA:2968
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Wilson Disease	Hemolytic anemia, Anemia, Thrombocytopenia, Splenomegaly	OMIM:277900
Hepatoerythropoietic Porphyria	Hemolytic anemia, Erythroid hyperplasia, Splenomegaly	ORPHA:95159
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis	ORPHA:157850
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Anemia, Elliptocytosis	OMIM:300990
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
Immunodeficiency 97 With Autoinflammation	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly...	OMIM:619802
Holoprosencephaly 5	Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen...	OMIM:609637
Glucagonoma	Weight loss, Normochromic anemia, Acanthocytosis	ORPHA:97280
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	Hydrocephalus	OMIM:300864
Fumarase Deficiency	Choroid plexus cyst, Failure to thrive, Polycythemia	OMIM:606812
Whipple Disease	Anemia, Cachexia, Hydrocephalus, Splenomegaly	ORPHA:3452
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Neutropenia, Small for gestational age, Thrombocytopenia, Pancytopenia, Anemia, Le...	OMIM:227646
Immunodeficiency By Defective Expression Of Mhc Class Ii	Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytope...	ORPHA:572
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Hydrocephalus, Failure to thrive, Neutropenia, Thrombocytopenia	OMIM:277400
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia	OMIM:610163
Temple Syndrome	Hydrocephalus, Overweight, Truncal obesity, Small for gestational age	OMIM:616222
Marburg Hemorrhagic Fever	Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Neutrophilia in presence of infection, R...	ORPHA:99826
Dandy-Walker Syndrome	Hydrocephalus, Dilated fourth ventricle	OMIM:220200
Lead Poisoning	Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Small for gestational age	ORPHA:330015
Osteopetrosis, Autosomal Recessive 7	Anemia, Hydrocephalus, Splenomegaly	OMIM:612301
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia	ORPHA:90036
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology...	ORPHA:760
Combined Immunodeficiency Due To Zap70 Deficiency	Failure to thrive, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, ...	ORPHA:911
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Gaisböck Syndrome	Increased hematocrit, Elevated plasma cell count, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Fanconi Anemia, Complementation Group B	Hydrocephalus, Thrombocytopenia, Aplastic anemia, Ventriculomegaly	OMIM:300514
Hypermanganesemia With Dystonia 1	Polycythemia	OMIM:613280
Pettigrew Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibo...	OMIM:615952
Fried Syndrome	Hydrocephalus	ORPHA:85335
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Obesity, Hydrocephalus, Ventriculomegaly, Splenomegaly	OMIM:615630
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Thrombocytopenia, Leukocytosis	ORPHA:544482
Adams-Oliver Syndrome	Failure to thrive, Hydrocephalus, Leukopenia, Encephalocele, Thrombocytopenia	ORPHA:974
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Splenomegaly	ORPHA:90033
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly	OMIM:616100
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Failure to thrive, Hypereosinophilia, Splenomegaly	OMIM:617388
Anemia, Congenital Dyserythropoietic, Type Iiia	Anemia of inadequate production, Macrocytic anemia, Congenital hypoplastic anemia	OMIM:105600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613154
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Small for gestational age	OMIM:618302
Immunodeficiency 17	Failure to thrive, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B ce...	OMIM:615607
B4Galt1-Cdg	Hydrocephalus, Small for gestational age, Dandy-Walker malformation, Splenomegaly	ORPHA:79332
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus	OMIM:619470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Central Precocious Puberty	Increased body weight, Hydrocephalus, Obesity	ORPHA:759
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Biemond Syndrome Type 2	Obesity, Hydrocephalus	ORPHA:141333
Sarcoidosis	Abnormality of the cerebrospinal fluid, Eosinophilia, Leukopenia, Hemolytic anemia, Weight loss, ...	ORPHA:797
Doors Syndrome	Thrombocytosis, Spina bifida occulta, Arrhinencephaly, Dandy-Walker malformation	ORPHA:79500
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly	OMIM:619183
Achondroplasia	Hydrocephalus	OMIM:100800
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia	ORPHA:90065
Congenital Hydrocephalus	Hydrocephalus, Colpocephaly, Ventriculomegaly	ORPHA:2185
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Failure to thrive, Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eo...	OMIM:102700
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
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