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 (826 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
Methemoglobin Reductase Deficiency	Abnormal erythrocyte morphology	OMIM:250700
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Anemia, Steroid-responsive anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Spherocytosis, Type 5	Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly	OMIM:612690
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis	OMIM:616649
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Immunodeficiency 69	Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Failure to thrive, Hepatospleno...	OMIM:618963
Spherocytosis, Type 4	Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly	OMIM:612653
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Solute carrier family 4 (anion exchanger), member 1	Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, ...	OMIM:109270
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Spherocytosis, Type 3	Spherocytosis, Hemolytic anemia	OMIM:270970
Spherocytosis, Type 1	Reticulocytosis, Spherocytosis, Hemolytic anemia, Splenomegaly	OMIM:182900
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ...	ORPHA:766
Asplenia, Isolated Congenital	Thrombocytosis, Howell-Jolly bodies, Asplenia	OMIM:271400
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production	OMIM:237800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin	ORPHA:231393
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Anemia, Congenital Dyserythropoietic, Type Iv	Reticulocytosis, Erythroid hyperplasia, Anemia of inadequate production, Anemia, Splenomegaly	OMIM:613673
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Pyropoikilocytosis, Hereditary	Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis	OMIM:266140
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A...	OMIM:202700
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ...	OMIM:615631
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno...	OMIM:224120
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
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Failure to thrive	OMIM:617718
Porphyria, Acute Hepatic	Hemolytic anemia, Failure to thrive	OMIM:612740
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo...	ORPHA:67044
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Glutamate-Cysteine Ligase Deficiency	Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia	ORPHA:33574
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik...	OMIM:616689
Bleeding Disorder, Platelet-Type, 16	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ...	OMIM:187800
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi...	ORPHA:86841
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia	OMIM:301015
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Sickle Cell Anemia	Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a...	ORPHA:232
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis	OMIM:615234
Polycythemia Vera	Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre...	OMIM:263300
Glut1 Deficiency Syndrome 2	Reticulocytosis, Hypoglycorrhachia	OMIM:612126
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy...	ORPHA:3203
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome...	ORPHA:444463
Heme Oxygenase 1 Deficiency	Hemolytic anemia	OMIM:614034
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Splenomegaly	OMIM:179700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Acquired Idiopathic Sideroblastic Anemia	Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment...	ORPHA:75564
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol...	OMIM:300835
Cryohydrocytosis	Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly	OMIM:185020
Immunodeficiency 16	Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly	OMIM:615593
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:228312
Thrombocythemia 1	Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ...	OMIM:187950
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Splenomegaly, Anemia of inadequate production	OMIM:224100
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Aicardi-Goutieres Syndrome 6	Hemolytic anemia	OMIM:615010
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Alpha-Thalassemia	Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin	ORPHA:846
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,...	OMIM:617780
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly	ORPHA:294
Hereditary Spherocytosis	Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi...	ORPHA:822
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly	OMIM:314050
Bleeding Disorder, Platelet-Type, 24	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc...	OMIM:619271
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis	OMIM:615193
Elliptocytosis 2	Reticulocytosis, Hemolytic anemia, Elliptocytosis	OMIM:130600
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia	OMIM:618660
Beemer Lethal Malformation Syndrome	Thrombocytopenia, Hydrocephalus	OMIM:209970
Nephrotic Syndrome, Type 7	Thrombocytopenia, Hemolytic anemia	OMIM:615008
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Macrothrombocytopenia and progressive sensorineural deafness	Thrombocytopenia, Giant platelets, Macrothrombocytopenia	OMIM:600208
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Thrombocytosis, Hepatosplenomegaly, Microcytic anemia	OMIM:604416
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume	OMIM:252270
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites	Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis	OMIM:141700
Immunodeficiency 27A	Thrombocytosis, Leukocytosis, Weight loss, Histiocytosis, Anemia, Splenomegaly, Hepatosplenomegaly	OMIM:209950
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities	Hepatosplenomegaly, Hemolytic anemia	OMIM:600461
Dehydrated Hereditary Stomatocytosis	Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ...	ORPHA:3202
Iron-Refractory Iron Deficiency Anemia	Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis	OMIM:206200
Diamond-Blackfan Anemia 13	Elevated red cell adenosine deaminase level, Normocytic anemia	OMIM:615909
Icf Syndrome	Abnormality of neutrophils, Lymphopenia, Communicating hydrocephalus, Anemia	ORPHA:2268
Phosphoglycerate Kinase 1 Deficiency	Reticulocytosis, Hemolytic anemia	OMIM:300653
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia, Hydrocephalus	OMIM:166990
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Failure to thrive, Decreased mean corpuscular volume, Hepatosp...	OMIM:611590
Sitosterolemia 1	Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi...	OMIM:210250
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Overhydrated Hereditary Stomatocytosis	Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly	OMIM:185000
Beemer-Ertbruggen Syndrome	Thrombocytopenia, Communicating hydrocephalus	ORPHA:1237
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, He...	OMIM:300908
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production	OMIM:300367
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related	Macrothrombocytopenia	OMIM:613112
Immunodeficiency 52	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ...	OMIM:617514
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:206100
Glycogen Storage Disease Vii	Reticulocytosis, Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration	OMIM:232800
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly	OMIM:611490
Thrombocytopenia 1	Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia	OMIM:313900
Lecithin:Cholesterol Acyltransferase Deficiency	Normochromic anemia, Hemolytic anemia	OMIM:245900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu...	OMIM:619041
Sebastian syndrome	Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets	OMIM:605249
Hereditary Elliptocytosis	Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog...	ORPHA:288
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, Communicating hydrocephalus, Sideroblastic anemia, B lymphocytopen...	OMIM:616084
Primary Myelofibrosis	Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Cache...	ORPHA:824
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor...	OMIM:206000
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:300448
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope...	OMIM:614470
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Elevated red cell adenosine deaminase level, Anisopoikilocytosis, Hemolytic anemia, Stomatocytosis	OMIM:102730
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Nonspherocytic hemolytic anemia, Reticulocytosis, Normocytic anemia, Normochromic anemia, Splenom...	OMIM:235700
Harderoporphyria	Reticulocytosis, Hemolytic anemia, Splenomegaly	OMIM:618892
Thrombocytopenia, Anemia, And Myelofibrosis	Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly	OMIM:617441
Chronic Myeloid Leukemia	Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro...	ORPHA:521
Wiskott-Aldrich Syndrome, Autosomal Dominant	Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt...	OMIM:600903
Elliptocytosis 3	Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis	OMIM:617948
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume	OMIM:261000
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Thrombocytopenia, Hepatosplenomegaly, Anemia	OMIM:610539
Hereditary Cryohydrocytosis With Reduced Stomatin	Stomatocytosis, Spontaneous hemolytic crises, Hypoglycorrhachia, Hepatosplenomegaly, Communicatin...	ORPHA:168577
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration	ORPHA:713
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia	OMIM:610629
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets	OMIM:155100
Autoinflammatory Syndrome, Familial, Behcet-Like	Thrombocytopenia, Lymphopenia, Hemolytic anemia	OMIM:616744
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia	OMIM:616176
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia	ORPHA:231401
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia	OMIM:619281
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly	OMIM:153670
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Elliptocytosis 1	Hemolytic anemia, Elliptocytosis, Splenomegaly	OMIM:611804
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Failure to thrive, Decre...	OMIM:618278
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi...	OMIM:194380
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Increased CSF protein, Hemolytic anemia	OMIM:612300
Hypobetalipoproteinemia, Familial, 1	Acanthocytosis	OMIM:615558
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Erythrocytosis, Familial, 4	Polycythemia, Increased hematocrit, Increased hemoglobin	OMIM:611783
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Anemia	OMIM:312500
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Failure to thrive, Pyrimidin...	OMIM:258900
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia, Fa...	OMIM:615285
Megaloblastic Anemia, Folate-Responsive	Hypersegmentation of neutrophil nuclei, Episodic hemolytic anemia, Folate-responsive megaloblasti...	OMIM:601775
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis	OMIM:268150
Acute Myelomonocytic Leukemia	Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia	ORPHA:517
Eosinophilia, Familial	Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia	OMIM:131400
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Chronic hemolytic anemia, Splenomegaly	OMIM:266200
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Thrombocytopenia 4	Thrombocytopenia	OMIM:612004
Pancytopenia And Occlusive Vascular Disease	Thrombocytopenia, Leukopenia, Pancytopenia, Anemia	OMIM:167850
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Nephronophthisis	Anemia	ORPHA:655
Congenital Dyserythropoietic Anemia Type Iii	Abnormal erythrocyte morphology, Anisocytosis, Anemia, Increased mean corpuscular volume, Poikilo...	ORPHA:98870
Congenital Atransferrinemia	Anemia	ORPHA:1195
Bernard-Soulier Syndrome	Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets	OMIM:231200
Wiskott-Aldrich Syndrome	Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce...	OMIM:301000
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Hepatosplenomegaly, Anemia	OMIM:273680
Fechtner syndrome	Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets	OMIM:153640
Myh9-Related Disease	Congenital thrombocytopenia, Giant platelets, Increased mean platelet volume, Neutrophil inclusio...	ORPHA:182050
8P11.2 Deletion Syndrome	Spherocytosis, Hemolytic anemia, Splenomegaly	ORPHA:251066
Erythrocytosis, Familial, 8	Nonspherocytic hemolytic anemia, Polycythemia, Normocytic anemia, Normochromic anemia, Splenomegaly	OMIM:222800
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Slc35A1-Cdg	Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules	ORPHA:238459
Babesiosis	Thrombocytopenia, Hemolytic anemia, Leukopenia, Splenomegaly	ORPHA:108
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase level, Normochromic anemia, Macrocytic anemia, Reticulocyto...	OMIM:615550
Adenosine Triphosphate, Elevated, Of Erythrocytes	Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration	OMIM:102900
Erythrocytosis, Familial, 5	Polycythemia, Increased hematocrit, Increased hemoglobin	OMIM:617907
Erythrocytosis, Familial, 6	Polycythemia, Increased hematocrit, Increased hemoglobin	OMIM:617980
Systemic Lupus Erythematosus	Thrombocytopenia, Hemolytic anemia, Leukopenia	OMIM:152700
Lcat Deficiency	Hemolytic anemia, Splenomegaly	ORPHA:650
Hb Bart'S Hydrops Fetalis	Abnormal hemoglobin, Hydrocephalus, Anemia, Splenomegaly	ORPHA:163596
Protoporphyria, Erythropoietic, 1	Hemolytic anemia	OMIM:177000
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia	OMIM:612527
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis	OMIM:274150
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Failure to thrive	OMIM:615607
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Hydrocephalus, Anemia	OMIM:619302
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia	OMIM:133180
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hypoglycorrhachia, Hemolytic anemia, Splenomegaly	OMIM:608885
Erythrocytosis, Familial, 7	Polycythemia, Increased hematocrit	OMIM:617981
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis	OMIM:235400
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia	OMIM:615399
Erythrocytosis, Familial, 1	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly	OMIM:133100
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu...	OMIM:619375
Retinitis Pigmentosa And Erythrocytic Microcytosis	Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Poikilocytosis	OMIM:616959
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume	OMIM:618849
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Ventriculomegaly, Neutropenia, Thr...	OMIM:304790
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly	OMIM:618495
Amme Complex	Elliptocytosis	OMIM:300194
Neonatal Lupus Erythematosus	Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Anemia, Splenomeg...	ORPHA:398124
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Leukopenia, Reticulocytopenia	OMIM:612528
Autoimmune Lymphoproliferative Syndrome	Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ...	OMIM:601859
Congenital Toxoplasmosis	Ventriculomegaly, Failure to thrive in infancy, Thrombocytopenia, Anemia, Hydrocephalus	ORPHA:858
Bone Marrow Failure Syndrome 2	Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Sting-Associated Vasculopathy, Infantile-Onset	Thrombocytosis, Lymphopenia, Anemia, Failure to thrive, Leukopenia	OMIM:615934
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Galactosemia I	Hemolytic anemia, Failure to thrive	OMIM:230400
Autoimmune Hemolytic Anemia	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:98375
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,...	OMIM:169400
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Familial Lambdoid Synostosis	Hydrocephalus, Stomatocytosis	ORPHA:3267
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind...	OMIM:619130
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Anemia	ORPHA:318
Developmental And Epileptic Encephalopathy 50	Anisopoikilocytosis, Schistocytosis, Anemia, Acanthocytosis	OMIM:616457
Cold Agglutinin Disease	Hemolytic anemia, Splenomegaly	ORPHA:56425
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, Anemia, Decreased mean corpuscu...	ORPHA:300298
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia, Anemia	OMIM:608898
Mcleod Syndrome	Hepatosplenomegaly, Abnormal erythrocyte morphology, Acanthocytosis	OMIM:300842
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Beta-Thalassemia	Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:848
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Neutropenia, Anemia	OMIM:614082
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Refractory Anemia	Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem...	ORPHA:98826
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, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Trimethylaminuria	Neutropenia, Anemia, Splenomegaly	OMIM:602079
Fanconi Anemia, Complementation Group T	Thrombocytopenia, Pancytopenia, Anemia	OMIM:616435
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Failure to thrive, Anemia, Splenomegaly	OMIM:615085
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Thrombocytosis	OMIM:226300
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Paroxysmal Cold Hemoglobinuria	Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia	ORPHA:90035
Hydrocephalus, Congenital Communicating, 1	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Autoerythrocyte Sensitization Syndrome	Thrombocytosis, Impaired platelet adhesion, Abnormal erythrocyte morphology, Autoimmune thrombocy...	ORPHA:324636
Glycogen Storage Disease Xii	Nonspherocytic hemolytic anemia, Normochromic anemia, Splenomegaly, Normocytic anemia	OMIM:611881
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis	OMIM:247800
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Proteus-Like Syndrome	Thymus hyperplasia, Communicating hydrocephalus, Hydrocephalus, Splenomegaly	ORPHA:2969
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Spontaneous hemolytic...	OMIM:613470
Aicardi-Goutieres Syndrome 4	Ventriculomegaly, CSF lymphocytic pleiocytosis, Pancytopenia, Thrombocytopenia, Splenomegaly, Hep...	OMIM:610333
Immunodeficiency 46	Failure to thrive, Intermittent thrombocytopenia, Neutropenia, Anemia	OMIM:616740
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Blackfan-Diamond Anemia	Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo...	ORPHA:124
Ciliary Dyskinesia, Primary, 1	Asplenia, Communicating hydrocephalus	OMIM:244400
Familial Thrombocytosis	Thrombocytosis, Chronic myelogenous leukemia, Weight loss, Acute myeloid leukemia, Splenomegaly	ORPHA:71493
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia	ORPHA:57
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Thrombocytosis, Weight loss, Failure to thrive, Macrocytic anemia	OMIM:212750
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD...	OMIM:603909
Cogan Syndrome	Leukocytosis, Thrombocytosis, Anemia	ORPHA:1467
Idiopathic Aplastic Anemia	Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia	ORPHA:88
Chylomicron Retention Disease	Failure to thrive, Acanthocytosis	ORPHA:71
Methylcobalamin Deficiency Type Cble	Ventriculomegaly, Neutropenia, Pancytopenia, Failure to thrive, Increased mean corpuscular volume...	ORPHA:2169
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Anemia	OMIM:618165
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness	Reduced beta/alpha synthesis ratio	OMIM:609057
Triosephosphate Isomerase Deficiency	Chronic hemolytic anemia, Hemolytic anemia, Normocytic anemia, Normochromic anemia, Splenomegaly	OMIM:615512
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Poems Syndrome	Polycythemia, Thrombocytosis, Weight loss	ORPHA:2905
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Combined Immunodeficiency Due To Crac Channel Dysfunction	Thrombocytopenia, Hemolytic anemia, Splenomegaly	ORPHA:169090
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Neutropenia, Thrombocytopenia, Failure to thrive, Splenomegaly	OMIM:308230
Short Stature With Microcephaly And Distinctive Facies	Anisopoikilocytosis, Decreased body weight, Small for gestational age, Anemia	OMIM:615789
Thrombocytopenia 5	Thrombocytopenia, Neutropenia, Anemia	OMIM:616216
3-Hydroxy-3-Methylglutaric Aciduria	Thrombocytosis, Leukocytosis, Weight loss, Anemia, Leukopenia	ORPHA:20
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD2...	OMIM:606367
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Colpocephaly, Communicating hydrocephalus	OMIM:615219
Beta-Ketothiolase Deficiency	Leukocytosis, Thrombocytosis, Weight loss	ORPHA:134
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Sickle Cell Anemia	Leukocytosis, Increased red cell sickling tendency, Hemolytic anemia, Splenomegaly	OMIM:603903
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Thrombocytopenia, Schistocytosis	ORPHA:90038
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Stormorken-Sjaastad-Langslet Syndrome	Abnormal thrombocyte morphology, Asplenia, Anemia	ORPHA:3204
Hyperlysinemia, Type I	Anemia	OMIM:238700
Beta-Thalassemia Major	Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o...	ORPHA:231214
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Kasabach-Merritt Syndrome	Microangiopathic hemolytic anemia, Reticulocytosis, Neutropenia, Thrombocytopenia, Anemia, Leukop...	ORPHA:2330
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Hellp Syndrome	Microangiopathic hemolytic anemia, Hemolytic anemia, Decreased mean corpuscular hemoglobin concen...	ORPHA:244242
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Fluctuating sp...	OMIM:619220
Tempi Syndrome	Polycythemia, Increased hematocrit	ORPHA:284227
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	OMIM:273730
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus	ORPHA:1861
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod...	OMIM:300751
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia	OMIM:608184
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Leukocytosis, Hypochromic anemia, Thrombocytosis, Failure to thrive	OMIM:618213
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Hydrocephalus	OMIM:615938
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Pancytopenia, Acute myeloid leukemia, Hypoplastic anemia, Aplastic anemia	ORPHA:447
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Alexander Disease	Increased CSF protein, Hydrocephalus	OMIM:203450
Krabbe Disease	Increased CSF protein, Failure to thrive, Hydrocephalus, Autoimmune thrombocytopenia	OMIM:245200
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Hepatosplenomegaly, Communicating hydrocephalus	ORPHA:309282
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase level, Thrombocytosis, Congenital hypoplastic anemia, Neutr...	OMIM:105650
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Lymphopenia, Impaired oxidative burst, Splenomegaly, Hepatosplenomegaly	OMIM:618935
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Failure to thrive in infancy, Splenom...	ORPHA:1572
Pericardial Effusion, Chronic	Polycythemia	OMIM:260900
Transcobalamin Ii Deficiency	Neutropenia, Reticulocytopenia, Pancytopenia, Failure to thrive, Macrocytic anemia	OMIM:275350
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Failure to thrive, Microcytic anemia	ORPHA:98791
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Hydrocephalus With Cerebellar Agenesis	Hydrocephalus	OMIM:307010
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Thrombocytosis, Leukocytosis, Lymphopenia, Pancytopenia, Splenomegaly, Anemia, Leukopenia, Hepato...	OMIM:615688
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	ORPHA:2807
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Megaloblastic anemia, Increased mean corpuscular volume	OMIM:277410
Thymoma	Pancytopenia, Abnormal lymphocyte morphology, B lymphocytopenia, Hemolytic anemia	ORPHA:99867
Fanconi Anemia, Complementation Group V	Thrombocytopenia, Neutropenia, Anemia	OMIM:617243
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age	ORPHA:621
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Failure to thrive	OMIM:212065
Lathosterolosis	Myelomeningocele, Increased mean platelet volume, Anisopoikilocytosis, Acanthocytosis, Hepatosple...	OMIM:607330
Myasthenia Gravis	Pure red cell aplasia, Hemolytic anemia	ORPHA:589
Trichohepatoenteric Syndrome 1	Thrombocytosis, Small for gestational age, Increased mean platelet volume, Failure to thrive	OMIM:222470
Maternal Uniparental Disomy Of Chromosome 4	Abnormal erythrocyte morphology, Decreased body weight, Acanthocytosis	ORPHA:96180
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c, Small for gestational age, Dilation of lateral ventricles	OMIM:619278
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia	OMIM:616738
Pineocytoma	Increased CSF protein, Hydrocephalus	ORPHA:251912
Chronic Bilirubin Encephalopathy	Hemolytic anemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia	ORPHA:529799
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus	OMIM:615937
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Lathosterolosis	Anisopoikilocytosis, Thrombocytopenia, Meningocele, Failure to thrive, Abnormal platelet morphology	ORPHA:46059
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei...	ORPHA:274
Aregenerative Anemia	Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc...	ORPHA:101096
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, D...	OMIM:259720
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, Subependymal nodules, Communicating hydrocephalus	ORPHA:25
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Oslam Syndrome	Anemia	OMIM:165660
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Thrombocytopenia, Anisocytosis, Leukope...	ORPHA:79277
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Neutropenia, Failure to thrive, Eosinophilia	OMIM:615816
Syndromic Diarrhea	Thrombocytosis, Lymphopenia, Increased mean platelet volume, Hypoplasia of the thymus, Small for ...	ORPHA:84064
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Idiopathic Hypereosinophilic Syndrome	Thrombocytosis, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neutrophilia, Failure to th...	ORPHA:3260
Shprintzen-Goldberg Syndrome	Ventriculomegaly, Communicating hydrocephalus, Failure to thrive	ORPHA:2462
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Thrombocytopenia, Splenomegaly, Failure to thrive, Anemia, Hydrocephalus	OMIM:259700
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Ventriculomegaly, Increased mean platelet volume	OMIM:616737
Cole-Carpenter Syndrome	Communicating hydrocephalus	ORPHA:2050
Hepatocellular Carcinoma	Thrombocytosis, Polycythemia, Weight loss, Thrombocytopenia, Anemia	ORPHA:88673
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Erythroid hyperplasia, Anisocytosis, Anemia, Splenomegaly, Decreased mean corpuscula...	OMIM:616860
Immunodeficiency 64	Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm...	OMIM:618534
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Hydrocephalus, Anemia	ORPHA:53
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,...	OMIM:260400
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ...	ORPHA:3261
Abetalipoproteinemia	Reticulocytosis, Failure to thrive, Anemia, Acanthocytosis	ORPHA:14
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Obesity	ORPHA:251004
Pgm3-Cdg	T lymphocytopenia, Abnormal CD4:CD8 ratio, Hemolytic anemia, Decreased proportion of CD4-positive...	ORPHA:443811
Lymphoproliferative Syndrome 1	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he...	OMIM:613011
Copper Deficiency, Familial Benign	Failure to thrive, Anemia	OMIM:121270
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Small for gestational age	OMIM:618858
Immunodeficiency 31C	Autoimmune hemolytic anemia, Lymphopenia	OMIM:614162
Thakker-Donnai Syndrome	Communicating hydrocephalus	ORPHA:1780
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia	ORPHA:464343
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Brucellosis	Thrombocytosis, Leukocytosis, Weight loss, Thrombocytopenia, Splenomegaly, Small for gestational ...	ORPHA:1304
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive	OMIM:129850
16Q24.3 Microdeletion Syndrome	Thrombocytopenia, Ventriculomegaly, Colpocephaly, Increased mean corpuscular volume	ORPHA:261250
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Infantile Sialic Acid Storage Disease	Failure to thrive, Hydrocephalus, Vacuolated lymphocytes, Splenomegaly	OMIM:269920
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Poikilocytosis, Acanthocytosis	OMIM:618947
Pediatric Systemic Lupus Erythematosus	Thrombocytopenia, Microangiopathic hemolytic anemia, Leukopenia, Lymphopenia	ORPHA:93552
Mixed Connective Tissue Disease	Hemolytic anemia, Leukopenia, Splenomegaly	ORPHA:809
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Wilson Disease	Hemolytic anemia	OMIM:277900
Immunodeficiency 81	Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo...	OMIM:619374
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Hydrocephalus	OMIM:618709
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Pearson Syndrome	Reticulocytosis, Increased CSF lactate, Neutropenia, Thrombocytopenia, Pancytopenia, Small for ge...	ORPHA:699
Porphyria, Congenital Erythropoietic	Thrombocytopenia, Hemolytic anemia, Splenomegaly	OMIM:263700
Ghosal Hematodiaphyseal Dysplasia	Thrombocytopenia, Leukopenia, Refractory anemia	OMIM:231095
Gamma-Heavy Chain Disease	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo...	ORPHA:100026
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:231154
Diamond-Blackfan Anemia 10	Reticulocytopenia, Anemia, Macrocytic anemia	OMIM:613309
Fanconi Anemia, Complementation Group E	Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Small for gestational age, Anemia...	OMIM:600901
Beta-Thalassemia Intermedia	Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid hyperplasia, I...	ORPHA:231222
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Splenomegaly	ORPHA:580
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology, Hydrocephalus	ORPHA:398189
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c, Small for gestational age	OMIM:606176
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Slender build, Ventriculomegaly, Large for gestational age, Communicating hydrocephalus	ORPHA:457359
Chudley-Mccullough Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:604213
Fanconi Anemia, Complementation Group A	Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Small for gestational age, Anemia...	OMIM:227650
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612562
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Cachexia, Acute leukemia	ORPHA:647
Developmental And Epileptic Encephalopathy 36	Hydrocephalus	OMIM:300884
Neuroleptic Malignant Syndrome	Thrombocytopenia, Thrombocytosis, Leukocytosis	ORPHA:94093
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Leukemia, Hydrocephalus	OMIM:602501
Dominant Beta-Thalassemia	Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o...	ORPHA:231226
Band Heterotopia	Ventriculomegaly, Hydrocephalus	OMIM:600348
Essential Thrombocythemia	Abnormal thrombocyte morphology, Abnormal platelet morphology, Acute leukemia, Splenomegaly	ORPHA:3318
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Failure to thrive	ORPHA:26
Fanconi Anemia, Complementation Group L	Hydrocephalus, Anemia	OMIM:614083
Shigellosis	Microangiopathic hemolytic anemia, Splenic abscess, Leukocytosis, Failure to thrive in infancy, T...	ORPHA:810
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of neutrophils, Hypochromic anemia, Hydrocephalus	ORPHA:2720
Hydatidiform Mole	Anemia	ORPHA:99927
Shwachman-Diamond Syndrome	Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Normocytic anemia, Pancytopenia...	ORPHA:811
Wiskott-Aldrich Syndrome	Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th...	ORPHA:906
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Obesity	OMIM:141750
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia	OMIM:603585
Mirage Syndrome	Lymphopenia, Decreased body weight, Thrombocytopenia, Anemia, Leukopenia, Hypoplastic spleen, Hyd...	OMIM:617053
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Griscelli Syndrome	Abnormality of neutrophils, Thrombocytopenia, Leukopenia, Splenomegaly, Hydrocephalus	ORPHA:381
1Q21.1 Microduplication Syndrome	Hydrocephalus, Failure to thrive	ORPHA:250994
Nasu-Hakola Disease	Ventriculomegaly, Acute leukemia, Hydrocephalus	ORPHA:2770
Fanconi Anemia, Complementation Group C	Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Small for gestational age, Anemia...	OMIM:227645
Purine Nucleoside Phosphorylase Deficiency	Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neu...	OMIM:613179
Pycnodysostosis	Hydrocephalus, Anemia, Splenomegaly	ORPHA:763
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ...	ORPHA:331206
Diencephalic Syndrome	Hydrocephalus, Cachexia, Decreased body weight	ORPHA:1672
Hydrocephalus, Congenital, 3, With Brain Anomalies	Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617967
Distal Renal Tubular Acidosis	Hemolytic anemia, Failure to thrive	ORPHA:18
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukopenia	ORPHA:508542
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Ventriculomegaly, Increased mean platelet volume, Dandy-Walker malformation	ORPHA:487796
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c	OMIM:610582
Leukocyte Adhesion Deficiency	Impaired platelet aggregation, Thrombocytosis, Leukocytosis, Polycythemia, Impaired neutrophil ch...	ORPHA:2968
Congenital Disorder Of Glycosylation, Type Iil	Ventriculomegaly, Pancytopenia, Thrombocytopenia, Failure to thrive, Splenomegaly, Hydrocephalus	OMIM:614576
Hepatoerythropoietic Porphyria	Splenomegaly, Erythroid hyperplasia, Hemolytic anemia	ORPHA:95159
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Glucagonoma	Normochromic anemia, Weight loss, Acanthocytosis	ORPHA:97280
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Neutropenia, Thrombocytopenia, Failure to thrive, Hydrocephalus	OMIM:277400
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Elliptocytosis, Anemia	OMIM:300990
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti...	OMIM:102700
Fanconi Anemia, Complementation Group D2	Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Small for gestational age, Anemia...	OMIM:227646
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis	ORPHA:157850
Fumarase Deficiency	Polycythemia, Choroid plexus cyst, Failure to thrive	OMIM:606812
Purine Nucleoside Phosphorylase Deficiency	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T ...	ORPHA:760
Masa Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:303350
Whipple Disease	Hydrocephalus, Cachexia, Anemia, Splenomegaly	ORPHA:3452
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm...	ORPHA:911
Immunodeficiency By Defective Expression Of Mhc Class Ii	T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem...	ORPHA:572
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Kleeblattschaedel	Hydrocephalus	OMIM:148800
Temple Syndrome	Truncal obesity, Overweight, Small for gestational age, Hydrocephalus	OMIM:616222
Immunodeficiency 25	Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia	OMIM:610163
Hypermanganesemia With Dystonia 1	Polycythemia	OMIM:613280
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia	ORPHA:90036
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome...	OMIM:615952
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hypereosinophilia, Failure to thrive, Splenomegaly	OMIM:617388
Osteopetrosis, Autosomal Recessive 7	Dilation of lateral ventricles, Hydrocephalus, Anemia, Splenomegaly	OMIM:612301
Fanconi Anemia, Complementation Group B	Thrombocytopenia, Ventriculomegaly, Aplastic anemia, Hydrocephalus	OMIM:300514
Holoprosencephaly 5	Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly...	OMIM:609637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:613154
Fanconi Anemia, Complementation Group R	Hydrocephalus	OMIM:617244
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Fried Syndrome	Hydrocephalus	ORPHA:85335
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Obesity, Ventriculomegaly, Hydrocephalus, Splenomegaly	OMIM:615630
Autoimmune Lymphoproliferative Syndrome, Type V	Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly	OMIM:616100
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Splenomegaly	ORPHA:90033
Infection-Related Hemolytic Uremic Syndrome	Thrombocytopenia, Hemolytic anemia, Leukocytosis	ORPHA:544482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus	OMIM:614830
Pettigrew Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:304340
Lead Poisoning	Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Small for gestational age, Anemia	ORPHA:330015
Doors Syndrome	Arrhinencephaly, Thrombocytosis, Dandy-Walker malformation, Spina bifida occulta	ORPHA:79500
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Biemond Syndrome Type 2	Hydrocephalus, Obesity	ORPHA:141333
Gastrointestinal Defects And Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Hypoplasia of the thymus	OMIM:243150
Adams-Oliver Syndrome	Thrombocytopenia, Failure to thrive, Hydrocephalus, Leukopenia	ORPHA:974
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:301040
Achondroplasia	Hydrocephalus	OMIM:100800
Central Precocious Puberty	Increased body weight, Hydrocephalus, Obesity	ORPHA:759
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly	OMIM:619183
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Increased CSF lactate, Hyperglycorrhachia, Hydrocephalus	ORPHA:90065
Congenital Hydrocephalus	Ventriculomegaly, Colpocephaly, Hydrocephalus	ORPHA:2185
Biemond Syndrome Ii	Hydrocephalus	OMIM:210350
Popov-Chang syndrome	Lymphopenia, Hydrocephalus, Failure to thrive	OMIM:618428
Sarcoidosis	Hemolytic anemia, Increased T cell count, Weight loss, Thrombocytopenia, Increased CSF protein, A...	ORPHA:797
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he...	OMIM:614700
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
Acalvaria	Holoprosencephaly, Spina bifida, Hydrocephalus	ORPHA:945
Anemia, Congenital Dyserythropoietic, Type Iii	Congenital hypoplastic anemia, Macrocytic anemia, Anemia of inadequate production	OMIM:105600
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:324416
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Craniofacial Dyssynostosis	Hydrocephalus	ORPHA:1516
Papilloma Of Choroid Plexus	Hydrocephalus, Choroid plexus papilloma	OMIM:260500
Gracile Bone Dysplasia	Failure to thrive, Hypoplastic spleen, Hydrocephalus, Asplenia	OMIM:602361
Gaucher Disease, Type Iiic	Pancytopenia, Hydrocephalus, Splenomegaly	OMIM:231005
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Hydrocephalus	OMIM:175780
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hydrocephalus, Obesity	ORPHA:2183
Temple Syndrome	Small for gestational age, Hydrocephalus, Obesity	ORPHA:254516
Mental Retardation, Buenos Aires Type	Hydrocephalus, Failure to thrive	OMIM:249630
H Syndrome	Histiocytosis, Hepatosplenomegaly, Hydrocephalus, Microcytic anemia	ORPHA:168569
Neural Tube Defects, Susceptibility To	Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta	OMIM:182940
Frontal Encephalocele	Spina bifida, Hydrocephalus	ORPHA:1931
Hydrolethalus Syndrome 2	Ventriculomegaly, Hydrocephalus, Anencephaly	OMIM:614120
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus	ORPHA:352682
Duodenal Neuroendocrine Tumor	Iron deficiency anemia, Increased hematocrit	ORPHA:100076
Papillary Tumor Of The Pineal Region

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