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
preweaning lethality, complete penetrance	Usp32^{em1(IMPC)Mhzh}	HOM	Early adult	0.00
decreased neutrophil cell number	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	4.81×10^-05
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
increased mean corpuscular volume	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	4.71×10^-22
decreased circulating glucose level	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	5.47×10^-08
thrombocytosis	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	4.61×10^-09
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
decreased mean corpuscular hemoglobin concentration	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	1.62×10^-08
increased mean platelet volume	Usp32^{em1(IMPC)Mhzh}	HET	Early adult	2.29×10^-08

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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 (564 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
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia	OMIM:618310
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane...	OMIM:205950
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Immunodeficiency 69	Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr...	OMIM:618963
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye...	OMIM:619041
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:206100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox...	OMIM:206000
Bleeding Disorder, Platelet-Type, 16	Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane...	OMIM:187800
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,...	ORPHA:766
Bleeding Disorder, Platelet-Type, 15	Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis	OMIM:615193
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Asplenia, Isolated Congenital	Thrombocytosis, Asplenia, Howell-Jolly bodies	OMIM:271400
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ...	ORPHA:86841
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Bleeding Disorder, Platelet-Type, 24	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619271
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus...	OMIM:620044
Methemoglobin Reductase Deficiency	Abnormal erythrocyte morphology	OMIM:250700
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Sickle Cell Anemia	Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc...	ORPHA:75564
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Cyclic Neutropenia	Cyclic neutropenia, Neutropenia	OMIM:162800
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Iron-Refractory Iron Deficiency Anemia	Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis	OMIM:206200
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis	OMIM:619398
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia	OMIM:615285
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho...	OMIM:616689
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis	OMIM:603529
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187950
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia	ORPHA:231393
Anemia, Sideroblastic, 5	Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia	OMIM:619523
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi...	OMIM:155100
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope...	OMIM:610629
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia	OMIM:261000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Typ...	OMIM:616860
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia	OMIM:618849
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl...	OMIM:615234
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem...	ORPHA:3202
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto...	OMIM:615631
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elevated circulating C-reactive protein concentration, Sterile abscess, Hepatosplenomegaly, Throm...	OMIM:604416
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Immunodeficiency 27A	Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Hypoalbuminemia, A...	OMIM:209950
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Lymphopenia, Neutropenia	OMIM:614868
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy...	ORPHA:90044
Agammaglobulinemia 7, Autosomal Recessive	Neutropenia	OMIM:615214
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Congenital Dyserythropoietic Anemia Type Iii	Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se...	ORPHA:98870
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Fechtner syndrome	Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets	OMIM:153640
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Neutropenia	OMIM:616022
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi...	OMIM:603552
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Myh9-Related Disease	Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p...	ORPHA:182050
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod...	OMIM:300908
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Neutropenia, Chronic Familial	Neutropenia	OMIM:162700
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ...	OMIM:231200
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre...	OMIM:603902
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop...	OMIM:614470
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Splenomegaly	ORPHA:46532
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Sitosterolemia 1	Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ...	OMIM:210250
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:616050
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen...	OMIM:613673
Fanconi Anemia, Complementation Group V	Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Wolfram Syndrome, Mitochondrial Form	Megaloblastic anemia, Sideroblastic anemia, Neutropenia, Diabetes mellitus, Thrombocytopenia	OMIM:598500
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto...	OMIM:159550
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia	OMIM:229050
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia	OMIM:613501
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos...	OMIM:308240
Immunodeficiency 46	Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Dysplasia Of Head Of Femur, Meyer Type	Leukocytosis	ORPHA:168621
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Hypoalbuminemia, Hypoproteinemia, Neutropenia	OMIM:600351
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Lymphopenia, Increased serum iron, Neutropenia, Ane...	OMIM:604250
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
Diamond-Blackfan Anemia 4	Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia	OMIM:612527
Refractory Anemia With Excess Blasts	Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula...	ORPHA:86839
Leishmaniasis	Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Pancytopenia, Anemia, ...	ORPHA:507
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Schistocytosis, ...	OMIM:224120
Myeloproliferative Syndrome, Transient	Transient myeloproliferative syndrome, Leukocytosis	OMIM:159595
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia	OMIM:616176
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Neutropenia	OMIM:610798
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	ORPHA:158061
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope...	OMIM:614172
Transcobalamin Deficiency	Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia	ORPHA:859
Cyanosis, Transient Neonatal	Methemoglobinemia, Reticulocytosis, Anemia	OMIM:613977
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	ORPHA:517
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia	OMIM:124900
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ...	OMIM:169400
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:614034
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Primary Myelofibrosis	Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi...	ORPHA:824
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly	OMIM:153670
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:300448
Cholestasis, Progressive Familial Intrahepatic, 10	Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercho...	OMIM:619868
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoalbuminemi...	ORPHA:2070
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Agammaglobulinemia 10, Autosomal Dominant	Absent circulating B cells, Type I diabetes mellitus, Transient neutropenia	OMIM:619707
Rh Deficiency Syndrome	Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem...	ORPHA:71275
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei...	ORPHA:158057
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Refractory Celiac Disease	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ...	ORPHA:398063
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency 92	Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi...	OMIM:619652
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt...	OMIM:616959
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, In...	OMIM:267700
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ...	OMIM:277410
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy...	ORPHA:2169
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD...	OMIM:150550
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia, Hypoalbuminemia	OMIM:618805
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Thrombocytosis, Hypoalbuminemia, Hypoproteinemia, Iron deficiency anemia	OMIM:226300
Congenital Enterovirus Infection	Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro...	ORPHA:292
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Storage Pool Platelet Disease	Acute leukemia, Decreased mean platelet volume	OMIM:185050
Majeed Syndrome	Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti...	OMIM:609628
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Hyperuricemia, Neutropenia	OMIM:617056
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia	ORPHA:289916
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia	OMIM:251900
Thrombocytopenia 7	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619130
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia	OMIM:608898
Specific Granule Deficiency 1	Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri...	OMIM:245480
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Decreased mean corpuscular volume, Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocyt...	OMIM:611590
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf...	ORPHA:300298
Alpha-Thalassemia	Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism	ORPHA:846
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia	OMIM:619013
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Neutropenia	OMIM:613502
Idiopathic Aplastic Anemia	Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:88
Nephrotic Syndrome, Type 14	Hypoglycemia, Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia	OMIM:617575
Shwachman-Diamond Syndrome	Increased mean corpuscular volume, Neutropenia, Hypoamylasemia, Leukopenia, Aplastic anemia, Norm...	ORPHA:811
Bone Marrow Failure Syndrome 2	Anemia, Leukopenia, Thrombocytopenia	OMIM:615715
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hyperammonemia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia	ORPHA:79312
Hepatoportal Sclerosis	Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl...	ORPHA:64743
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Positive ferric chloride test, Hypersegmentation of neutrophil nuclei	OMIM:229100
Erythroleukemia, Familial, Susceptibility To	Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia	OMIM:133180
Wolcott-Rallison Syndrome	Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Neonatal insulin-depen...	ORPHA:1667
Amegakaryocytic Thrombocytopenia, Congenital	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Type I diabetes mellitus, Ne...	OMIM:301078
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Glucose intolerance, Hyperinsulinemia, Type II diabetes mellitus, Abn...	ORPHA:2298
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypoproteinemia, He...	OMIM:603553
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	OMIM:619220
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Thrombocytosis, A...	OMIM:615934
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hyperammonemia, Leukopenia, Hypoglycemia, Hyperglycinemia, Methylmalonic acidemia, Neutropenia, T...	OMIM:251000
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval...	ORPHA:35858
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi...	ORPHA:540
Beta-Ketothiolase Deficiency	Leukocytosis, Hyperammonemia, Hypoglycemia, Thrombocytosis, Hyperuricemia, Hyperglycemia	ORPHA:134
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Erythroid hyp...	OMIM:237800
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia	OMIM:606843
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Hypoalbuminemia	OMIM:608104
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Lymphopenia, Neutropenia	ORPHA:2688
Whim Syndrome 1	Neutropenia	OMIM:193670
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612562
Orthostatic Hypotension 2	Hypoglycemia, Anemia	OMIM:618182
Specific Granule Deficiency 2	Thrombocytopenia, Anemia, Absent neutrophil specific granules, Neutropenia	OMIM:617475
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp...	ORPHA:169154
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoglycemia, Hypoalbuminemia	OMIM:617156
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hyperbilirubinemia, Splenomegaly, Hypoglycemia, Hypoalbuminemia, Thrombocytopenia	OMIM:251880
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Hypoglycemia, Anemia	OMIM:610090
Primary Intestinal Lymphangiectasia	Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m...	ORPHA:90362
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Elevated circulating C-reactive protein concentration, Lymphocytosis, Iron deficiency anemia, Thr...	OMIM:301074
Amoebiasis Due To Entamoeba Histolytica	Leukocytosis, Hypoalbuminemia, Anemia, Lung abscess, Liver abscess	ORPHA:67
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Type I diabetes mell...	OMIM:304790
Congenital Disorder Of Glycosylation, Type Iif	Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia	OMIM:603585
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Beta-Thalassemia Intermedia	Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E...	ORPHA:231222
Acquired Partial Lipodystrophy	Insulin resistance, Lymphocytosis	ORPHA:79087
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ...	ORPHA:263458
Aregenerative Anemia	Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport...	ORPHA:101096
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Anemia, Neutropenia	OMIM:614900
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Propionic Acidemia	Hyperammonemia, Pancytopenia, Hypoglycemia, Hyperglycinemia, Neutropenia, Anemia, Thrombocytopenia	OMIM:606054
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor...	OMIM:243150
Ménétrier Disease	Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia	ORPHA:2494
Diabetes Mellitus, Permanent Neonatal, 4	Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level...	OMIM:618858
Blackfan-Diamond Anemia	Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi...	ORPHA:124
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H...	ORPHA:158048
Aggressive Systemic Mastocytosis	Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I...	ORPHA:98850
Beta-Thalassemia	Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th...	ORPHA:848
Immunodeficiency 102	Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha...	OMIM:301082
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers...	ORPHA:231226
Methylmalonic Aciduria, Cblb Type	Hyperammonemia, Pancytopenia, Hyperglycinemia, Methylmalonic acidemia, Neutropenia, Anemia, Throm...	OMIM:251110
3-Hydroxy-3-Methylglutaric Aciduria	Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytosis, Nonketotic hypoglycemia, Hyperuricemia,...	ORPHA:20
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Me...	OMIM:614857
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
3-Methylglutaconic Aciduria, Type Viia	Anemia, Anisopoikilocytosis, Neutropenia	OMIM:619835
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot...	ORPHA:274
Letterer-Siwe Disease	Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia	OMIM:246400
Diarrhea 7, Protein-Losing Enteropathy Type	Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia	OMIM:615863
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi...	OMIM:601775
Necrotizing Enterocolitis	Neutropenia, Leukocytosis, Hyponatremia, Abnormal glucose homeostasis, Thrombocytopenia, Hypergly...	ORPHA:391673
Avian Influenza	Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat...	ORPHA:454836
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg...	OMIM:601859
Acute Bilirubin Encephalopathy	Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia	ORPHA:529808
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis	OMIM:604273
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Immunodeficiency By Defective Expression Of Mhc Class Ii	Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope...	ORPHA:572
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie...	OMIM:619802
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Analbuminemia	Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen...	OMIM:616000
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal...	OMIM:618986
Griscelli Syndrome Type 2	Hyperlipidemia, Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia	ORPHA:79477
Adenosine Triphosphate, Elevated, Of Erythrocytes	Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration	OMIM:102900
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Hyperbilirubinemia, Splenomegaly	OMIM:179700
Methylmalonic Aciduria, Cbla Type	Hyperammonemia, Pancytopenia, Hyperglycinemia, Methylmalonic acidemia, Neutropenia, Anemia, Throm...	OMIM:251100
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	ORPHA:2643
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro...	OMIM:608203
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem...	OMIM:618278
Hepatocellular Carcinoma	Hypokalemia, Type II diabetes mellitus, Hyperbilirubinemia, Polycythemia, Hypoglycemia, Thrombocy...	ORPHA:88673
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Neonatal Alloimmune Neutropenia	Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes	ORPHA:464370
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, H...	OMIM:615688
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Leukopenia, Hypoalbuminemia, Neutropenia, Anemia, Thrombocytopenia	OMIM:617303
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope...	OMIM:619705
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c...	ORPHA:247598
Trichohepatoenteric Syndrome 1	Splenomegaly, Increased mean platelet volume, Thrombocytosis, Hypermethioninemia, Abnormality of ...	OMIM:222470
Cogan Syndrome	Thrombocytosis, Anemia, Leukocytosis	ORPHA:1467
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Megaloblastic anemia, Hyperhomocystinemia, Pancytopenia, Cystathioninemia, Methylmalonic acidemia...	OMIM:277380
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide level, Diabetes mellitus, Hy...	OMIM:606176
Neonatal Lupus Erythematosus	Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia	ORPHA:398124
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia	OMIM:251190
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Thrombocytopenia 1	Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume	OMIM:313900
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia	OMIM:141000
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Familial Thrombocytosis	Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly	ORPHA:71493
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia	OMIM:610582
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia	OMIM:301083
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Autoerythrocyte Sensitization Syndrome	Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte mor...	ORPHA:324636
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration	OMIM:618838
Autosomal Dominant Severe Congenital Neutropenia	Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni...	ORPHA:486
Celiac Disease, Susceptibility To, 1	Hypocalcemia, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Type I diabetes mellitus	OMIM:212750
Lathosterolosis	Hyperbilirubinemia, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Incr...	OMIM:607330
Immunodeficiency 67	Liver abscess, Transient neutropenia	OMIM:607676
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,...	ORPHA:37042
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Thrombocytopenia, Neutropenia	OMIM:614520
Retinal Venous Beading	Neutropenia	OMIM:180080
Juvenile Polyposis Syndrome	Anemia, Hypokalemia, Hypoalbuminemia	OMIM:174900
X-Linked Agammaglobulinemia	Hypocalcemia, Neutropenia, Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation	ORPHA:47
Interstitial Lung And Liver Disease	Thrombocytosis, Anemia, Intraalveolar phospholipid accumulation, Hyperammonemia	OMIM:615486
Acute Promyelocytic Leukemia	Leukocytosis, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia	ORPHA:520
Transcobalamin Ii Deficiency	Neutropenia, Macrocytic anemia, Reticulocytopenia, Pancytopenia	OMIM:275350
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Thrombocytopenia	OMIM:616737
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Thrombocytopenia	ORPHA:67048
Syndromic Diarrhea	Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Thrombocytos...	ORPHA:84064
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia	OMIM:246700
Bleeding Disorder, Platelet-Type, 17	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187900
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Neuroleptic Malignant Syndrome	Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H...	ORPHA:94093
Acute Monoblastic/Monocytic Leukemia	Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Anemia	ORPHA:514
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Poems Syndrome	Polycythemia, Thrombocytosis, Diabetes mellitus	ORPHA:2905
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Chediak-Higashi Syndrome	Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric...	OMIM:214500
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Felty Syndrome	Splenomegaly, Abnormal lymphocyte morphology, Neutropenia, Anemia, Thrombocytopenia	ORPHA:47612
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg...	OMIM:603909
Relapsing Fever	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In...	ORPHA:91547
Bacterial Toxic-Shock Syndrome	Increased circulating myelocyte count, Hypocalcemia, Abscess, Elevated circulating creatine kinas...	ORPHA:36234
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Perianal abscess, Leukocytosis, Hypochromic anemia	OMIM:618213
Wiskott-Aldrich Syndrome, Autosomal Dominant	Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla...	OMIM:600903
Cyclic Neutropenia	Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos...	ORPHA:2686
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia	OMIM:619752
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ...	ORPHA:231214
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Anemia, Liver...	ORPHA:54251
Cinca Syndrome	Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hepatosplenome...	OMIM:607115
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating tyrosine concentration, Hypoargininemia, Abnormal circulating histidine conc...	ORPHA:79096
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia, Pancytopenia	OMIM:617872
Hereditary Chronic Pancreatitis	Elevated circulating C-reactive protein concentration, Leukocytosis, Diabetes mellitus	ORPHA:676
Elliptocytosis 2	Hemolytic anemia, Reticulocytosis, Elliptocytosis, Neonatal hyperbilirubinemia	OMIM:130600
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Alg6-Cdg	Decreased LDL cholesterol concentration, Hypoalbuminemia	ORPHA:79320
Spherocytosis, Type 4	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612653
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures	OMIM:610021
Spherocytosis, Type 2	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis	OMIM:616649
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Congenital Erythropoietic Porphyria	Splenomegaly, Anisocytosis, Leukopenia, Increased erythrocyte protoporphyrin concentration, Hemol...	ORPHA:79277
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:508542
Immunodeficiency 43	Hypoalbuminemia, Hypoproteinemia	OMIM:241600
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Acute myeloid l...	OMIM:260400
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis	ORPHA:98827
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Hypocholesterolemia, Hypoalbuminemia	OMIM:212065
Erythrocytosis, Familial, 5	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617907
Barth Syndrome	Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia	OMIM:302060
Immunodeficiency, Common Variable, 1	Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ...	OMIM:607594
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Anemia, Congenital thrombocytopenia, Leukocytosis	OMIM:618886
Galloway-Mowat Syndrome 6	Hypoalbuminemia	OMIM:618347
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Erythrocytosis, Familial, 4	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:611783
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Abnormality of thro...	OMIM:612840
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul...	OMIM:613179
Kasabach-Merritt Syndrome	Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anemia, Thrombocytop...	ORPHA:2330
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia	OMIM:208920
Pgm3-Cdg	Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese...	ORPHA:443811
Al Amyloidosis	Anemia, Hypoalbuminemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies	ORPHA:85443
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Hyperbilirubinemia, Refractory sideroblast...	OMIM:557000
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Anemia, Hypoalbuminemia, Hepatosplenomegaly	OMIM:619487
Fanconi Anemia, Complementation Group E	Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia	OMIM:600901
Developmental Delay, Hypotonia, And Impaired Language	Neutropenia	OMIM:620012
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly	OMIM:618042
Erythrocytosis, Familial, 6	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617980
Diamond-Blackfan Anemia 1	Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, Reticulocytopenia, ...	OMIM:105650
Solute carrier family 4 (anion exchanger), member 1	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis...	OMIM:109270
Hermansky-Pudlak Syndrome 2	Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Impaired AD...	OMIM:608233
Mpi-Cdg	Hyperinsulinemic hypoglycemia, Hypoalbuminemia	ORPHA:79319
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Decreased proportion of class-switc...	OMIM:614700
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly	OMIM:611762
Cryohydrocytosis	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly	OMIM:185020
Wilson Disease	Increased circulating copper concentration, Hyperbilirubinemia, Splenomegaly, Glycosuria, Hemolyt...	OMIM:277900
Methylmalonic Acidemia With Homocystinuria Type Cblf	Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemi...	ORPHA:79284
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit	OMIM:609820
Abetalipoproteinemia	Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Reticulocytosis, Decreased...	ORPHA:14
Brucellosis	Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Leukopenia, Th...	ORPHA:1304
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinophilia, Hepatospleno...	ORPHA:3260
Marburg Hemorrhagic Fever	Hypokalemia, Lymphopenia, Hyperammonemia, Leukopenia, Elevated circulating creatine kinase concen...	ORPHA:99826
Schimke Immunoosseous Dysplasia	Lymphopenia, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Abnormal T cell morphology	OMIM:242900
Wiskott-Aldrich Syndrome	Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr...	OMIM:301000
Schnitzler Syndrome	Anemia, Leukocytosis, Splenomegaly	ORPHA:37748
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Ornithine Transcarbamylase Deficiency	Hypoglycemia, Hyperammonemia, Splenomegaly	ORPHA:664
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmune thrombocytop...	OMIM:615952
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope...	ORPHA:3226
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Neutropenia, A...	ORPHA:90051
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Abnormal circulating selenium concentration, Decreased serum iron, Decreased plasma carnitine, Hy...	ORPHA:89842
Schimke Immuno-Osseous Dysplasia	Hyperlipidemia, Lymphopenia, Abnormal proportion of naive CD4 T cells, Decreased proportion of na...	ORPHA:1830
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Increased circulating ferritin concentration, Neutropenia, Vacuola...	ORPHA:167
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Fanconi Anemia, Complementation Group A	Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia	OMIM:227650
Glycogen Storage Disease Ixa1	Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia, Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Alg12-Cdg	B lymphocytopenia, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia, Recurrent hypoglycemia, Th...	ORPHA:79324
Cartilage-Hair Hypoplasia	Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation...	OMIM:250250
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Neutropenia	OMIM:608809
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185000
Spherocytosis, Type 1	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:182900
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,...	OMIM:612541
3-Methylglutaconic Aciduria Type 7	Neonatal hypoglycemia, Infection associated neutropenia, Neutropenia	ORPHA:445038
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Immunodeficiency 55	Neutropenia, Lymphopenia, Absent natural killer cells	OMIM:617827
Castleman Disease	Decreased mean corpuscular volume, Anemia, Thrombocytopenia, Elevated circulating C-reactive prot...	ORPHA:160
Erythrocytosis, Familial, 7	Polycythemia, Increased hematocrit	OMIM:617981
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, B lymphocytopenia, Neutropenia	OMIM:301081
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatosplenomegaly, Hypoalbuminemia	ORPHA:367
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Hepatosplenomegaly, Hypoalbuminemia, Anemia, Thrombocytopenia	ORPHA:505248
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Methylmalonic aci...	OMIM:277400
Acute Panmyelosis With Myelofibrosis	Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Acute myeloid leukemia	ORPHA:86843
Nephrotic Syndrome, Type 1	Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Thrombocytopenia	ORPHA:487796
Familial Cold Autoinflammatory Syndrome 1	Elevated circulating C-reactive protein concentration, Leukocytosis	OMIM:120100
Cohen Syndrome	Leukopenia, Neutropenia	OMIM:216550
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic anemia, Reticulocyt...	OMIM:235700
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Psoriasis 14, Pustular	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis	OMIM:614204
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration	OMIM:618835
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Neutropenia	OMIM:616395
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Anemia, Elevated circulating creatine kinase concentration	OMIM:618839
Autosomal Agammaglobulinemia	Neutropenia	ORPHA:33110
Immunodeficiency 23	Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia	OMIM:615816
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Herpes Simplex Virus Encephalitis	Hyponatremia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis	ORPHA:1930
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration...	ORPHA:88618
Shwachman-Diamond Syndrome 2	Thrombocytopenia, Normocytic anemia, Neutropenia	OMIM:617941
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, In...	OMIM:242150
Mody	Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El...	ORPHA:552
Citrullinemia Type Ii	Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H...	ORPHA:247585
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia, Hypoalbuminemia	OMIM:602579
Poikiloderma With Neutropenia	Leukopenia, Neutropenia, Elevated circulating creatine kinase concentration, Splenomegaly	OMIM:604173
Fanconi Anemia, Complementation Group C	Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia	OMIM:227645
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:308230
Immunodeficiency 91 And Hyperinflammation	Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatosple...	OMIM:619644
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ...	ORPHA:64753
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio...	ORPHA:911
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra...	ORPHA:567548
Muckle-Wells Syndrome	Elevated circulating C-reactive protein concentration, Leukocytosis	OMIM:191900
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia, Neutropenia	OMIM:618005
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Lymphopenia, Decreased prealbumin level, Hypochole...	ORPHA:90363
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Hypoalbuminemia	ORPHA:79396
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Thrombocytopenia, Leukocytosis	ORPHA:83601
Juvenile Polyposis Of Infancy	Refractory anemia, Anemia, Hypoalbuminemia	ORPHA:79076
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis	ORPHA:1302
Leukocyte Adhesion Deficiency	Hyperinsulinemic hypoglycemia, Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Thromb...	ORPHA:2968
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia, Neonatal hypog...	OMIM:619055
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor...	ORPHA:98849
Cinca Syndrome	Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Abnormal granu...	ORPHA:1451
Wiskott-Aldrich Syndrome	Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platelet function...	ORPHA:906
Glycogen Storage Disease Ib	Hyperlipidemia, Splenomegaly, Hypoglycemia, Hyperuricemia, Neutropenia	OMIM:232220
Congenital Analbuminemia	Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia	ORPHA:86816
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Elevated circulating C-reactive protein concentrati...	OMIM:617099
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Hyperammonemia, Hypomethioninemia, Elevated circulating palmitoleylcarnitin...	ORPHA:79282
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hyperammonemia, Hypoglycemia, Decreased plasma carnitine, Hyperuricemia, Anemia	OMIM:246450
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl...	OMIM:619381
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, Di...	ORPHA:36238
Liver Failure, Infantile, Transient	Hyperbilirubinemia, Hypoalbuminemia	OMIM:613070
Bare Lymphocyte Syndrome, Type Ii	Neutropenia	OMIM:209920
Eisenmenger Syndrome	Increased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Brain a...	ORPHA:97214
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, B lymphocytopenia, Neutropenia	OMIM:601495
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypoglycemia, Hypoalbuminemia	OMIM:618329
Adult-Onset Still Disease	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Abnormal circu...	ORPHA:829
Fanconi Anemia, Complementation Group I	Neutropenia	OMIM:609053
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Anemia, Thrombocytopenia, Leukocytosis	ORPHA:90060
Hermansky-Pudlak Syndrome 10	Neutropenia, Splenomegaly	OMIM:617050
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypocalcemia, Hypoglycemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia, Pancytopenia, Anemia	OMIM:613658
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hyperalaninemia, Neutropenia	OMIM:615471
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
Pearson Syndrome	Hypomagnesemia, Neutropenia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Splenomegaly, Reticuloc...	ORPHA:699
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Lymphocytosis, Splenomegaly, Leukopenia, N...	ORPHA:50918
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Omenn Syndrome	Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia	ORPHA:39041
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