Gene: Usp32 MGI:2144475

Gene Summary

Name:

ubiquitin specific peptidase 32

Synonyms:

2900074J03Rik, 6430526O11Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased neutrophil cell number	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	4.81×10^-05
preweaning lethality, complete penetrance	Usp32^{em1(IMPC)Mhzh}	HOM	Early adult	0.00
thrombocytosis	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	4.61×10^-09
increased mean corpuscular volume	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	4.71×10^-22
increased mean platelet volume	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	2.29×10^-08
increased lymphocyte cell number	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	5.04×10^-09
decreased circulating serum albumin level	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	8.33×10^-05
decreased mean corpuscular hemoglobin concentration	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	1.62×10^-08
decreased circulating glucose level	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	5.47×10^-08
increased red blood cell distribution width	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	7.28×10^-05
increased leukocyte cell number	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	9.30×10^-05

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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 Usp32 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 Usp32 (0 diseases)
Human diseases predicted to be associated with Usp32 (537 diseases)

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

The table below shows human diseases predicted to be associated to Usp32 by phenotypic similarity.

Disease	Matching phenotypes	Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:205950
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Hemoglobin D Disease	Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia...	ORPHA:90039
Thrombocytopenia, Cyclic	Thrombocytopenia, Neutropenia, Cyclic neutropenia	OMIM:188020
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin	ORPHA:231249
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu...	OMIM:202700
Immunodeficiency 69	Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,...	OMIM:618963
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr...	OMIM:619041
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox...	OMIM:206000
Bleeding Disorder, Platelet-Type, 16	Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired...	OMIM:187800
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj...	ORPHA:766
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Sebastian syndrome	Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies	OMIM:605249
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis	OMIM:615193
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Asplenia, Isolated Congenital	Thrombocytosis, Howell-Jolly bodies, Asplenia	OMIM:271400
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis...	ORPHA:86841
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach...	OMIM:619271
Methemoglobin Reductase Deficiency	Abnormal erythrocyte morphology	OMIM:250700
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Sickle Cell Anemia	Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas...	ORPHA:232
Cyclic Neutropenia	Neutropenia, Cyclic neutropenia	OMIM:162800
Macrothrombocytopenia and progressive sensorineural deafness	Thrombocytopenia, Macrothrombocytopenia, Giant platelets	OMIM:600208
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related	Macrothrombocytopenia	OMIM:613112
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A...	OMIM:300835
Acquired Idiopathic Sideroblastic Anemia	Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia...	ORPHA:75564
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Diamond-Blackfan Anemia 8	Macrocytic anemia, Neutropenia, Increased mean corpuscular volume	OMIM:612563
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro...	ORPHA:67044
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen...	OMIM:616689
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia	OMIM:615285
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia	OMIM:619398
Iron-Refractory Iron Deficiency Anemia	Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level	OMIM:206200
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production	OMIM:603529
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Thrombocythemia 1	Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced plat...	OMIM:187950
Anemia, Sideroblastic, 5	Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia	OMIM:619523
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia	ORPHA:231393
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Polycythemia Vera	Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ...	OMIM:263300
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies	OMIM:155100
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Intrinsic Factor Deficiency	Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume	OMIM:261000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Type II diabetes mellitus, Erythroid hyperplasia, Elevated hepatic iron concentratio...	OMIM:616860
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Bone Marrow Failure Syndrome 6	Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia	OMIM:618849
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Chronic Myeloid Leukemia	Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple...	ORPHA:521
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Poikilocytosis, ...	OMIM:615234
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Anemia, Congenital Dyserythropoietic, Type Ia	Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy...	OMIM:224120
Dehydrated Hereditary Stomatocytosis	Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume...	ORPHA:3202
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Fanconi Anemia, Complementation Group G	Leukemia, Thrombocytopenia, Neutropenia, Anemia	OMIM:614082
Diamond-Blackfan Anemia 3	Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F	OMIM:610629
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Thrombocytosis, Sterile abscess, Hepatosplenomegaly, Microcytic anemia, Pancytopenia, Elevated ci...	OMIM:604416
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi...	OMIM:615631
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic...	ORPHA:90044
Neutropenia, Severe Congenital, X-Linked	Neutropenia	OMIM:300299
Immunodeficiency 27A	Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocy...	OMIM:209950
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin	ORPHA:231401
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He...	ORPHA:3203
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Neutropenia, Lymphopenia	OMIM:614868
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Agammaglobulinemia 7, Autosomal Recessive	Neutropenia	OMIM:615214
Refractory Anemia	Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr...	ORPHA:98826
Hemoglobin E Disease	Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ...	ORPHA:2133
Congenital Dyserythropoietic Anemia Type Iii	Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis...	ORPHA:98870
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ...	OMIM:300908
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of ina...	OMIM:617780
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia	OMIM:619281
Fechtner syndrome	Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies	OMIM:153640
Oslam Syndrome	Abnormality of neutrophils, Increased mean corpuscular volume	ORPHA:2760
Hemophagocytic Lymphohistiocytosis, Familial, 4	Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid...	OMIM:603552
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia	OMIM:617243
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Eosinophilia, Familial	Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia	OMIM:131400
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Myh9-Related Disease	Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc...	ORPHA:182050
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Sitosterolemia 1	Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom...	OMIM:210250
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre...	OMIM:603902
Ras-Associated Autoimmune Leukoproliferative Disorder	Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan...	OMIM:614470
Hemoglobin C-Beta-Thalassemia Syndrome	Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Delta-Beta-Thalassemia	Microcytic anemia, Anemia, Abnormal hemoglobin	ORPHA:231237
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Splenomegaly	ORPHA:46532
Wolfram Syndrome, Mitochondrial Form	Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia	OMIM:598500
Autoinflammation With Infantile Enterocolitis	Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra...	OMIM:616050
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation	OMIM:231200
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto...	OMIM:159550
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia	OMIM:613501
Hemochromatosis, Type 3	Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Increased circulating...	OMIM:604250
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Hypoproteinemia, Neutropenia, Hypoalbuminemia	OMIM:600351
Neutrophilia, Hereditary	Neutrophilia, Hepatosplenomegaly	OMIM:162830
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis	ORPHA:168621
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Diamond-Blackfan Anemia 4	Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia	OMIM:612527
Leishmaniasis	Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, ...	ORPHA:507
Refractory Anemia With Excess Blasts	Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute...	ORPHA:86839
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Macrophage Activation Syndrome	Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid...	ORPHA:158061
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Anemia	OMIM:616176
Thrombocytopenia 4	Thrombocytopenia	OMIM:612004
Immunodeficiency 21	Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni...	OMIM:614172
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia	ORPHA:517
Transcobalamin Deficiency	Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia	ORPHA:859
Pelger-Huet Anomaly	Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit...	OMIM:169400
Heme Oxygenase 1 Deficiency	Thrombocytosis, Elevated circulating C-reactive protein concentration, Asplenia, Coombs-positive ...	OMIM:614034
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly	OMIM:153670
Primary Myelofibrosis	Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocytosis, Extramedu...	ORPHA:824
Pancytopenia And Occlusive Vascular Disease	Pancytopenia, Thrombocytopenia, Anemia, Leukopenia	OMIM:167850
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis	OMIM:617718
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Eosinophilic Gastroenteritis	Leukocytosis, Anemia, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive protein conc...	ORPHA:2070
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia	OMIM:616738
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia	OMIM:619302
Myelolymphatic Insufficiency	Hyposegmentation of neutrophil nuclei, Leukopenia	OMIM:310350
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
3-Methylglutaconic Aciduria, Type Vii	Neutropenia	OMIM:616271
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi...	ORPHA:158057
Elliptocytosis 3	Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis	OMIM:617948
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Refractory Celiac Disease	Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Hypophosphatemia, ...	ORPHA:398063
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F	OMIM:612561
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL...	OMIM:267700
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Hype...	ORPHA:71275
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia	OMIM:613502
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El...	OMIM:616959
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volume...	OMIM:277410
Folate Malabsorption, Hereditary	Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia	OMIM:229050
Immunodeficiency 92	Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy...	OMIM:619652
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia, Hypoalbuminemia	OMIM:618805
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Intermittent thrombocytopenia, S...	OMIM:150550
Congenital Enterovirus Infection	Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, Hy...	ORPHA:292
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula...	ORPHA:2169
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Thrombocytosis, Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Anemia, Hypoalbuminemia	OMIM:608104
Majeed Syndrome	Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ...	OMIM:609628
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Neutropenia, Hyperuricemia	OMIM:617056
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Neutropenia, Hyperammonemia	ORPHA:289916
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Elevated circulating creatine kinase concentration, Microcytic anemia, Neutropenia	OMIM:251900
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis	OMIM:608898
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon...	OMIM:245480
Alpha-Thalassemia	Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia	ORPHA:846
Thrombocytopenia 7	Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla...	OMIM:619130
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic an...	OMIM:611590
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro...	ORPHA:300298
Idiopathic Aplastic Anemia	Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia	ORPHA:88
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Neutropenia, Anemia, Hyperammonemia, Splenomegaly, Thrombocytopenia	ORPHA:79312
Nephrotic Syndrome, Type 14	Hypoalbuminemia, Hypoglycemia, Lymphopenia, Hypertriglyceridemia	OMIM:617575
Shwachman-Diamond Syndrome	Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea...	ORPHA:811
Bone Marrow Failure Syndrome 2	Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Felty Syndrome	Neutropenia, Splenomegaly	OMIM:134750
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test	OMIM:229100
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia	OMIM:133180
Hepatoportal Sclerosis	Leukopenia, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoalbuminemia, Thrombocyto...	ORPHA:64743
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Hemoph...	OMIM:308240
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Immunodeficiency 55	Neutropenia	OMIM:617827
Wolcott-Rallison Syndrome	Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto...	ORPHA:1667
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypoproteinemia, Leukopenia, Anemia, Increased total bilirubin, Splenomegaly, Incre...	OMIM:603553
Insulin-Resistance Syndrome Type B	Fasting hypoglycemia, Type II diabetes mellitus, Leukopenia, Insulin resistance, Abnormal circula...	ORPHA:2298
Amegakaryocytic Thrombocytopenia, Congenital	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Sting-Associated Vasculopathy, Infantile-Onset	Thrombocytosis, Leukopenia, Anemia, Lymphopenia, Elevated circulating C-reactive protein concentr...	OMIM:615934
Imerslund-Gräsbeck Syndrome	Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce...	ORPHA:35858
Orotic Aciduria	Hypochromia, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unr...	OMIM:258900
Beta-Ketothiolase Deficiency	Leukocytosis, Thrombocytosis, Hypoglycemia, Hyperglycemia, Hyperuricemia, Hyperammonemia	ORPHA:134
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia i...	OMIM:619220
Familial Hemophagocytic Lymphohistiocytosis	Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid...	ORPHA:540
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr...	OMIM:237800
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Adult Idiopathic Neutropenia	Monocytopenia, Neutropenia, Lymphopenia, Monocytosis	ORPHA:2688
Diamond-Blackfan Anemia 7	Macrocytic anemia, Neutropenia, Increased mean corpuscular volume	OMIM:612562
Specific Granule Deficiency 2	Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules	OMIM:617475
Whim Syndrome 1	Neutropenia	OMIM:193670
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Anemia, Thrombocytopenia	OMIM:614857
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut...	ORPHA:169154
Sea-Blue Histiocyte Disease	Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly	OMIM:269600
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T cells, Decrea...	ORPHA:90362
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoglycemia, Hypoalbuminemia	OMIM:617156
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoglycemia, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia	OMIM:251880
Amoebiasis Due To Entamoeba Histolytica	Leukocytosis, Lung abscess, Anemia, Hypoalbuminemia, Liver abscess	ORPHA:67
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia Intermedia	Leukocytosis, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepatic iron conce...	ORPHA:231222
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Type I diabet...	OMIM:304790
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul...	OMIM:618278
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia, Anemia	OMIM:610090
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia	OMIM:603585
Diamond-Blackfan Anemia 11	Anemia, Neutropenia, Anemia of inadequate production	OMIM:614900
Acquired Partial Lipodystrophy	Lymphocytosis, Insulin resistance	ORPHA:79087
Aregenerative Anemia	Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport...	ORPHA:101096
Anemia, Congenital Dyserythropoietic, Type Iv	Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inade...	OMIM:613673
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ...	ORPHA:263458
Hemophagocytic Syndrome Associated With An Infection	Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration...	ORPHA:158048
Poikiloderma With Neutropenia	Elevated circulating creatine kinase concentration, Neutropenia, Splenomegaly	OMIM:604173
Blackfan-Diamond Anemia	Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu...	ORPHA:124
Combined Immunodeficiency Due To Partial Rag1 Deficiency	B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy...	ORPHA:231154
Ménétrier Disease	Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia	ORPHA:2494
Methylmalonic Aciduria, Cblb Type	Neutropenia, Methylmalonic acidemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Throm...	OMIM:251110
Beta-Thalassemia	Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Th...	ORPHA:848
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Hyperammonemia, Hyperuricemia, Recurrent hypogl...	ORPHA:20
Dominant Beta-Thalassemia	Abnormality of iron homeostasis, Hypochromic microcytic anemia, Persistence of hemoglobin F, Sple...	ORPHA:231226
Aggressive Systemic Mastocytosis	Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep...	ORPHA:98850
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Propionic Acidemia	Neutropenia, Hypoglycemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Thrombocytopenia	OMIM:606054
Letterer-Siwe Disease	Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Necrotizing Enterocolitis	Leukocytosis, Hyponatremia, Neutropenia, Hyperglycemia, Abnormal glucose homeostasis, Thrombocyto...	ORPHA:391673
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Impaired ristoce...	ORPHA:274
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia	ORPHA:529799
Megaloblastic Anemia, Folate-Responsive	Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir...	OMIM:601775
Autoimmune Lymphoproliferative Syndrome	Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ...	OMIM:601859
Griscelli Syndrome Type 2	Neutropenia, Hyperlipidemia, Splenomegaly, Pancytopenia, Hemophagocytosis	ORPHA:79477
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Autoim...	ORPHA:572
Barth Syndrome	Granulocytopenia, Neutropenia	OMIM:302060
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c...	OMIM:616000
Methylmalonic Aciduria, Cbla Type	Neutropenia, Methylmalonic acidemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Throm...	OMIM:251100
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ...	OMIM:618858
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,...	OMIM:618986
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Hyperbilirubinemia, Splenomegaly	OMIM:179700
Avian Influenza	Leukopenia, Elevated circulating creatine kinase concentration, Lymphopenia, Hypoalbuminemia, Thr...	ORPHA:454836
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	ORPHA:2643
Adenosine Triphosphate, Elevated, Of Erythrocytes	Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration	OMIM:102900
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Neutropenia	OMIM:601495
Hepatocellular Carcinoma	Thrombocytosis, Hyponatremia, Hypercalcemia, Hypoglycemia, Type II diabetes mellitus, Hypokalemia...	ORPHA:88673
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ...	OMIM:608203
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Mucopolysaccharidosis-Plus Syndrome	Neutropenia, Leukopenia, Anemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia	OMIM:617303
Trichohepatoenteric Syndrome 1	Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo...	OMIM:222470
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec...	ORPHA:247598
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Megaloblastic anemia,...	OMIM:277380
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukocytosis, Thrombocytosis, Leukopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphopenia, ...	OMIM:615688
Neonatal Lupus Erythematosus	Hemolytic anemia, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Aplastic anemia	ORPHA:398124
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid hypoplasia, Spl...	OMIM:612541
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Thrombocytopenia 1	Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia	OMIM:313900
16Q24.3 Microdeletion Syndrome	Thrombocytopenia, Increased mean corpuscular volume	ORPHA:261250
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	OMIM:251190
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Immunodeficiency 67	Transient neutropenia, Liver abscess	OMIM:607676
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Autoimmune thrombocytopenia, Impaired platelet adhesion, Thrombo...	ORPHA:324636
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia	OMIM:614520
Autosomal Dominant Severe Congenital Neutropenia	Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop...	ORPHA:486
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Hypoglycemia, Anemia	OMIM:618838
Retinal Venous Beading	Neutropenia	OMIM:180080
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ir...	ORPHA:37042
Celiac Disease, Susceptibility To, 1	Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Type I diabetes mellitus, Hypocalcemia	OMIM:212750
Lathosterolosis	Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Abnormal circulating cholest...	OMIM:607330
Juvenile Polyposis Syndrome	Anemia, Hypokalemia, Hypoalbuminemia	OMIM:174900
X-Linked Agammaglobulinemia	Neutropenia, Recurrent cutaneous abscess formation, Anemia, Hypocalcemia, Thrombocytopenia	ORPHA:47
Familial Thrombocytosis	Acute myeloid leukemia, Chronic myelogenous leukemia, Thrombocytosis, Splenomegaly	ORPHA:71493
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus, Reduced C-pe...	OMIM:606176
Acute Promyelocytic Leukemia	Leukocytosis, Neutropenia, Leukopenia, Anemia, Pancytopenia, Thrombocytopenia	ORPHA:520
Syndromic Diarrhea	Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet volume, Hypoplasia of th...	ORPHA:84064
Interstitial Lung And Liver Disease	Thrombocytosis, Intraalveolar phospholipid accumulation, Anemia, Hyperammonemia	OMIM:615486
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia, Hypoglycemia	ORPHA:67048
Lichtenstein Syndrome	Neutropenia	OMIM:246550
Transcobalamin Ii Deficiency	Pancytopenia, Macrocytic anemia, Neutropenia, Reticulocytopenia	OMIM:275350
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus	OMIM:610582
Chylomicron Retention Disease	Hypocholesterolemia, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia	OMIM:246700
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Neuroleptic Malignant Syndrome	Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circulating cre...	ORPHA:94093
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Congenital Disorder Of Glycosylation, Type Ia	Hypocholesterolemia, Thrombocytosis, Hypoalbuminemia	OMIM:212065
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Neutropenia, Anemia, Lymphopenia, Thrombocytopenia	OMIM:242900
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Evans Syndrome	Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop...	ORPHA:1959
Chediak-Higashi Syndrome	Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly...	OMIM:214500
Acute Monoblastic/Monocytic Leukemia	Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia	ORPHA:514
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ...	OMIM:603909
Felty Syndrome	Neutropenia, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thrombocytopenia	ORPHA:47612
Poems Syndrome	Polycythemia, Thrombocytosis, Diabetes mellitus	ORPHA:2905
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Bacterial Toxic-Shock Syndrome	Increased circulating myelocyte count, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:36234
Wiskott-Aldrich Syndrome, Autosomal Dominant	Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas...	OMIM:600903
Cyclic Neutropenia	Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos...	ORPHA:2686
Beta-Thalassemia Major	Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly...	ORPHA:231214
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Liver...	ORPHA:54251
Relapsing Fever	Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ...	ORPHA:91547
Cinca Syndrome	Leukocytosis, Anemia, Hepatosplenomegaly, Eosinophilia, Elevated circulating C-reactive protein c...	OMIM:607115
Hereditary Chronic Pancreatitis	Leukocytosis, Elevated circulating C-reactive protein concentration, Diabetes mellitus	ORPHA:676
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating threonine concentration, Hypoargininemia, Abnormal circulating...	ORPHA:79096
Elliptocytosis 2	Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis	OMIM:130600
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy...	ORPHA:103910
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia, Hypoalbuminemia	OMIM:602579
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Hypoglycemia	OMIM:617872
Thrombocytopenia, Anemia, And Myelofibrosis	Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly	OMIM:617441
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia	OMIM:612653
Alg6-Cdg	Decreased LDL cholesterol concentration, Hypoalbuminemia	ORPHA:79320
Spherocytosis, Type 2	Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia	OMIM:616649
Hyperinsulinemic Hypoglycemia, Familial, 7	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia	OMIM:610021
Shwachman-Diamond Syndrome 1	Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy...	OMIM:260400
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Immunodeficiency 43	Hypoproteinemia, Hypoalbuminemia	OMIM:241600
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Leukopenia, Sp...	ORPHA:79277
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Leukocytosis, Thrombocytosis, Perianal abscess, Hypochromic anemia	OMIM:618213
Cartilage-Hair Hypoplasia	Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge...	OMIM:250250
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia	ORPHA:508542
Unclassified Myelodysplastic Syndrome	Leukocytosis, Acute myeloid leukemia	ORPHA:98827
Kasabach-Merritt Syndrome	Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop...	ORPHA:2330
Wiskott-Aldrich Syndrome	Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat...	OMIM:301000
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Reduced beta/alpha synthesis ratio	OMIM:609057
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine...	OMIM:613179
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Erythrocytosis, Familial, 4	Polycythemia, Increased hematocrit, Increased hemoglobin	OMIM:611783
Immunodeficiency, Common Variable, 1	B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen...	OMIM:607594
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Sp...	OMIM:614700
Pseudo-Torch Syndrome 3	Leukocytosis, Anemia, Congenital thrombocytopenia, Increased circulating ferritin concentration	OMIM:618886
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu...	ORPHA:443811
Solute carrier family 4 (anion exchanger), member 1	Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytos...	OMIM:109270
Hermansky-Pudlak Syndrome 2	Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu...	OMIM:608233
Aicardi-Goutieres Syndrome 9	Hepatosplenomegaly, Hemolytic anemia, Anemia, Hypoalbuminemia	OMIM:619487
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly	OMIM:185020
Methylmalonic Acidemia With Homocystinuria Type Cblf	Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemia, Megaloblastic anemi...	ORPHA:79284
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LDL cholesterol concentration,...	ORPHA:14
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Diamond-Blackfan Anemia 1	Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ...	OMIM:105650
Marburg Hemorrhagic Fever	Hyperamylasemia, Hypoglycemia, Leukopenia, Hypokalemia, Neutrophilia in presence of infection, El...	ORPHA:99826
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Anemia, Hypoalbuminemia	ORPHA:85443
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Fanconi Anemia, Complementation Group E	Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia	OMIM:600901
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Mpi-Cdg	Hyperinsulinemic hypoglycemia, Hypoalbuminemia	ORPHA:79319
Erythrocytosis, Familial, 3	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin	OMIM:609820
Immunodeficiency With Hyper-Igm, Type 1	Thrombocytopenia, Hemolytic anemia, Neutropenia, Splenomegaly	OMIM:308230
Brucellosis	Leukocytosis, Thrombocytosis, Lung abscess, Leukopenia, Anemia, Splenomegaly, Hypersplenism, Gran...	ORPHA:1304
Neonatal Alloimmune Neutropenia	Maternal diabetes, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Sepsis In Premature Infants	Leukocytosis, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Elevated circulating C-reactiv...	ORPHA:90051
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly	OMIM:611762
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnorm...	ORPHA:3226
Schnitzler Syndrome	Leukocytosis, Anemia, Splenomegaly	ORPHA:37748
Idiopathic Hypereosinophilic Syndrome	Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega...	ORPHA:3260
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmune thrombocytop...	OMIM:615952
Schimke Immuno-Osseous Dysplasia	Decreased proportion of naive CD8 T cells, Neutropenia, Hyperlipidemia, Anemia, Lymphopenia, Thro...	ORPHA:1830
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia	OMIM:208920
Chédiak-Higashi Syndrome	Abnormal natural killer cell morphology, Hyponatremia, Hypoproteinemia, Neutropenia, Thrombocytop...	ORPHA:167
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Fanconi Anemia, Complementation Group A	Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia	OMIM:227650
Spherocytosis, Type 5	Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly	OMIM:612690
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Hypoglycemia, Splenomegaly	ORPHA:664
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:612840
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum zinc, Anemia, Decreased serum iron, Abnormal circulating selenium concentration, ...	ORPHA:89842
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185000
Dohle Bodies And Leukemia	Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies	OMIM:223350
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Me...	OMIM:277400
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Spherocytosis, Type 1	Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia	OMIM:182900
Castleman Disease	Thrombocytopenia, Decreased mean corpuscular volume, Elevated circulating C-reactive protein conc...	ORPHA:160
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Anemia, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytopenia	ORPHA:505248
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
Alg12-Cdg	B lymphocytopenia, Hyponatremia, Hypocholesterolemia, Recurrent hypoglycemia, Hypoalbuminemia, Th...	ORPHA:79324
Shwachman-Diamond Syndrome 2	Thrombocytopenia, Normocytic anemia, Neutropenia	OMIM:617941
3-Methylglutaconic Aciduria Type 7	Infection associated neutropenia, Neutropenia, Neonatal hypoglycemia	ORPHA:445038
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Cohen Syndrome	Neutropenia, Leukopenia	OMIM:216550
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:120100
Acute Panmyelosis With Myelofibrosis	Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis, Pancytopenia	ORPHA:86843
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatosplenomegaly, Hypoalbuminemia	ORPHA:367
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Splenomegaly, Nonspherocytic hemolyti...	OMIM:235700
Psoriasis 14, Pustular	Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia	OMIM:614204
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Neutropenia	OMIM:608809
Autosomal Agammaglobulinemia	Neutropenia	ORPHA:33110
Combined Oxidative Phosphorylation Deficiency 40	Elevated circulating creatine kinase concentration, Hypoglycemia, Anemia	OMIM:618835
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Combined Oxidative Phosphorylation Deficiency 42	Elevated circulating creatine kinase concentration, Hypoglycemia, Anemia	OMIM:618839
Immunodeficiency 23	Neutropenia, Abscess, Lymphopenia, Eosinophilia, Hemolytic anemia	OMIM:615816
Citrullinemia Type Ii	Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A...	ORPHA:247585
Herpes Simplex Virus Encephalitis	Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia	ORPHA:1930
S-Adenosylhomocysteine Hydrolase Deficiency	Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Abnormal circulating met...	ORPHA:88618
Fanconi Anemia, Complementation Group C	Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia	OMIM:227645
Glycogen Storage Disease Ib	Hypoglycemia, Neutropenia, Hyperlipidemia, Hyperuricemia	OMIM:232220
Immunodeficiency 91 And Hyperinflammation	Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Elevated circulating C-reactive ...	OMIM:619644
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin...	ORPHA:567548
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole...	ORPHA:64753
Juvenile Polyposis Of Infancy	Refractory anemia, Anemia, Hypoalbuminemia	ORPHA:79076
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, L...	ORPHA:90363
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Hypoalbuminemia	ORPHA:79396
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia, Neutropenia	OMIM:618005
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hypoglycemia, Hypoalbu...	OMIM:619055
Combined Immunodeficiency Due To Zap70 Deficiency	Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ...	ORPHA:911
Muckle-Wells Syndrome	Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:191900
Leukocyte Adhesion Deficiency	Leukocytosis, Thrombocytosis, Polycythemia, Hyperinsulinemic hypoglycemia, Acute myeloid leukemia...	ORPHA:2968
Systemic Mastocytosis With Associated Hematologic Neoplasm	Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo...	ORPHA:98849
Mody	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypoglycemia, Glucose intole...	ORPHA:552
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Thrombocytopenia, Leukocytosis, Hyponatremia	ORPHA:83601
Cryptogenic Organizing Pneumonia	Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia	ORPHA:1302
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites	Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis	OMIM:141700
Cinca Syndrome	Leukocytosis, Abnormality of thrombocytes, Anemia, Abnormal granulocyte morphology, Splenomegaly,...	ORPHA:1451
Wiskott-Aldrich Syndrome	Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem...	ORPHA:906
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidemia, Hypoglycemia, Megalo...	ORPHA:79282
Essential Thrombocythemia	Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia, Splenomegaly	ORPHA:3318
Congenital Analbuminemia	Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin	ORPHA:86816
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Increased prop...	OMIM:617099
Bare Lymphocyte Syndrome, Type Ii	Neutropenia	OMIM:209920
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Hermansky-Pudlak Syndrome 10	Neutropenia, Splenomegaly	OMIM:617050
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hypoglycemia, Anemia, Hyperuricemia, Hyperammonemia, Decreased plasma carnitine	OMIM:246450
Staphylococcal Necrotizing Pneumonia	Leukocytosis, Leukopenia, Neutrophilia, Diabetes mellitus, Elevated circulating C-reactive protei...	ORPHA:36238
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypoglycemia, Anemia, Hypocalcemia, Pancytopenia	OMIM:613658
Adult-Onset Still Disease	Leukocytosis, Abnormal circulating lipid concentration, Splenomegaly, Neutrophilia, Elevated circ...	ORPHA:829
Fanconi Anemia, Complementation Group I	Neutropenia	OMIM:609053
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypoglycemia, Hypoalbuminemia	OMIM:618329
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Neutropenia, Hyperalaninemia	OMIM:615471
Diffuse Alveolar Hemorrhage	Leukocytosis, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia	ORPHA:90060
Eisenmenger Syndrome	Brain abscess, Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency ...	ORPHA:97214
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia	OMIM:607944
Pearson Syndrome	Neutropenia, Hypokalemia, Anemia, Hypophosphatemia, Glycosuria, Splenomegaly, Hypomagnesemia, Hyp...	ORPHA:699
Immunodeficiency 82 With Systemic Inflammation	B lymphocytopenia, Decreased proportion of naive T cells, Elevated circulating C-reactive protein...	OMIM:619381
Kikuchi-Fujimoto Disease	Neutropenia, Leukopenia, Anemia, Splenomegaly, Lymphocytosis, Thrombocytopenia, Elevated circulat...	ORPHA:50918
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Fanconi Anemia, Complementation Group D2	Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia	OMIM:227646
Omenn Syndrome	Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia	ORPHA:39041
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay	Anemia, Acute myeloid leukemia, Neutropenia	OMIM:601347
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia, Hypoglycemia	OMIM:611126
Leigh Syndrome	Anemia, Hypoglycemia, Neutropenia, Hyperalaninemia	ORPHA:506
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Leigh Syndrome With Nephrotic Syndrome	Hypoalbuminemia	ORPHA:255249
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Neutropenia	ORPHA:537
Fusariosis	Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Lymphopenia, Granuloma	ORPHA:228119
Mirage Syndrome	Hyperkalemia, Hyponatremia, Hypoglycemia, Leukopenia, Anemia, Lymphopenia, Thrombocytopenia, Hypo...	OMIM:617053
X-Linked Lymphoproliferative Disease	Increased B cell count, B lymphocytopenia, Increased T cell count, Splenomegaly, Absent natural k...	ORPHA:2442
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Chronic neutropenia, Hypoglycemia, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Anemia,...	ORPHA:79259
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Hypoglycemia, Anemia, Diabetes mellitus	OMIM:609069
Sweet Syndrome	Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Acute myeloid leukemia, Neutro...	ORPHA:3243
Glycogen Storage Disease Ixc	Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia, Splenomegaly	OMIM:613027
Whim Syndrome	Lymphopenia, Neutropenia, Abnormality of neutrophil morphology	ORPHA:51636
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia	OMIM:618183
Rothmund-Thomson Syndrome	Calcinosis, Neutropenia, Leukemia, Anemia, Aplastic anemia	ORPHA:2909
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Lymphocytosis, Abnormality of the spleen	ORPHA:79456
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Dopamine Beta-Hydroxylase Deficiency

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