Gene: Zfp760 MGI:2679257

Gene Summary

Name:

zinc finger protein 760

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
increased hemoglobin content	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	7.37×10^-06
thrombocytopenia	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	1.43×10^-05
increased circulating calcium level	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	2.30×10^-05
increased erythrocyte cell number	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	1.39×10^-06
increased hematocrit	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	3.27×10^-06
increased circulating serum albumin level	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	3.61×10^-08
increased circulating alkaline phosphatase level	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	1.67×10^-07
increased circulating total protein level	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	5.44×10^-05
decreased body weight	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	5.62×10^-07
decreased IgE level	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	1.24×10^-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 Zfp760 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 Zfp760 (0 diseases)
Human diseases predicted to be associated with Zfp760 (890 diseases)

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

The table below shows human diseases predicted to be associated to Zfp760 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit	OMIM:609820
Erythrocytosis, Familial, 5	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617907
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Increased circulating IgG level,...	ORPHA:29073
Erythrocytosis, Familial, 4	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:611783
Erythrocytosis, Familial, 6	Polycythemia, Increased hemoglobin, Increased hematocrit	OMIM:617980
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H...	ORPHA:158048
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Increased circulating antibody level, Histiocytosis	OMIM:235900
Erythrocytosis, Familial, 7	Polycythemia, Increased hematocrit	OMIM:617981
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency	Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia, Neutropenia	OMIM:600351
Dehydrated Hereditary Stomatocytosis	Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor...	ORPHA:3202
Erythrocytosis, Familial, 1	Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly	OMIM:133100
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Failure to thrive, Splenomegaly, Extramedullary hematopoies...	OMIM:615285
Diffuse Neonatal Hemangiomatosis	Anemia, Thrombocytopenia, Hypercalcemia	ORPHA:2123
Anemia, Congenital Dyserythropoietic, Type Iv	Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen...	OMIM:613673
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
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir...	OMIM:618944
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Rhabdoid Tumor	Weight loss, Anemia, Thrombocytopenia, Hypercalcemia	ORPHA:69077
Erythrocytosis, Familial, 2	Increased red blood cell mass, Failure to thrive, Increased hemoglobin, Increased hematocrit	OMIM:263400
Gaisböck Syndrome	Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Increased circulating renin l...	ORPHA:90041
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Immunodeficiency 27A	Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T...	OMIM:209950
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Hypercalcemia	ORPHA:2668
Refractory Celiac Disease	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ...	ORPHA:398063
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Decreased circulating IgG level, Lymphopenia	OMIM:152800
Primary Intestinal Lymphangiectasia	Hypomagnesemia, Hypocalcemia, Lymphopenia, Decreased circulating IgA level, Hypoproteinemia, Decr...	ORPHA:90362
Thrombocytopenic Purpura, Autoimmune	Thrombocytopenia	OMIM:188030
Omenn Syndrome	Failure to thrive, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe ...	OMIM:603554
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
Adenosine Triphosphate, Elevated, Of Erythrocytes	Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration	OMIM:102900
Trypsinogen Deficiency	Failure to thrive, Hypoproteinemia	OMIM:614044
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Decreased circulating antibody level, Lymphopenia, Hypoproteinemia	ORPHA:1116
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ...	OMIM:616050
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, T lymphocytopenia	DECIPHER:16
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,...	ORPHA:766
Tempi Syndrome	Polycythemia, Increased circulating IgG level, Increased hematocrit	ORPHA:284227
Malaria	Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia	ORPHA:673
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos...	OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki...	OMIM:613101
Hypophosphatasia	Anemia, Failure to thrive in infancy, Hypercalcemia	ORPHA:436
Leishmaniasis	Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, W...	ORPHA:507
Immunodeficiency 43	Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia	OMIM:241600
Blue Diaper Syndrome	Hypercalcemia, Abnormal circulating tryptophan concentration	OMIM:211000
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c...	OMIM:267700
Alpha-Heavy Chain Disease	Anemia, Hypocalcemia, Dysgammaglobulinemia, Splenomegaly	ORPHA:100025
Adamantinoma	Hypercalcemia	ORPHA:55881
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane...	OMIM:205950
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Thrombocytopenia, Cyclic	Cyclic neutropenia, Thrombocytopenia, Neutropenia	OMIM:188020
Atypical Hemolytic Uremic Syndrome	Decreased serum complement factor B, Decreased serum complement factor I, Complement deficiency, ...	ORPHA:2134
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Transcobalamin Deficiency	Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre...	ORPHA:859
Thrombocytopenia 7	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619130
Cholestasis, Progressive Familial Intrahepatic, 10	Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal...	OMIM:619868
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hypercalcemia, Infantile, 2	Failure to thrive, Hypophosphatemia, Hypercalcemia	OMIM:616963
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Hy...	OMIM:226300
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo...	OMIM:212050
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hemophagocytosi...	OMIM:603553
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Erythroid hyp...	OMIM:237800
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia	OMIM:141000
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Refractory Anemia With Excess Blasts	Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula...	ORPHA:86839
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ...	ORPHA:169079
Fanconi Anemia, Complementation Group V	Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia	OMIM:617243
Beta-Thalassemia, Dominant Inclusion Body Type	Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre...	OMIM:603902
Diarrhea 7, Protein-Losing Enteropathy Type	Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia	OMIM:615863
Ménétrier Disease	Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia	ORPHA:2494
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Hemophagocytic Lymphohistiocytosis, Familial, 4	Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi...	OMIM:603552
Hypermanganesemia With Dystonia 1	Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirubinemia, Polycy...	OMIM:613280
Amegakaryocytic Thrombocytopenia, Congenital	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Immunodeficiency 69	Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa...	OMIM:618963
Progressive Familial Intrahepatic Cholestasis	Abnormality of thrombocytes, Hypocalcemia, Failure to thrive, Splenomegaly	ORPHA:172
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 27 concentration, Elevated circulating C-reactive protein concent...	OMIM:619632
Immunodeficiency 46	Failure to thrive, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropen...	OMIM:616740
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R...	OMIM:614493
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Bleeding Disorder, Platelet-Type, 16	Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane...	OMIM:187800
Congenital Analbuminemia	Increased circulating antibody level, Hyperlipidemia, Hypoproteinemia, Small for gestational age,...	ORPHA:86816
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol...	OMIM:607616
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Splenomegaly	ORPHA:46532
Eosinophilia, Familial	Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis	OMIM:131400
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Lymphoproliferative Syndrome 1	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:613011
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I...	OMIM:247630
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Hyperbilirubinemia, Splenomegaly	OMIM:179700
Agammaglobulinemia 8B, Autosomal Recessive	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr...	OMIM:619824
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Decreased ...	OMIM:618987
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia, Hypoalbuminemia, Failure to thrive in infancy	OMIM:618805
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc...	ORPHA:158061
Erythrocytosis, Familial, 8	Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia	OMIM:222800
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Erythroleukemia, Familial, Susceptibility To	Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia	OMIM:133180
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Hypoalbuminemia	ORPHA:88643
Hypervitaminosis A, Susceptibility To	Hypercalcemia	OMIM:240150
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Failure to thrive, Hypercalcemia	OMIM:239199
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells...	OMIM:617241
Caspase 8 Deficiency	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95...	OMIM:607271
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceride...	OMIM:246700
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia...	OMIM:619041
Immunodeficiency, Common Variable, 11	Failure to thrive, Decreased proportion of class-switched memory B cells, Decreased circulating I...	OMIM:615767
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Blue Diaper Syndrome	Increased body weight, Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Proteasome-Associated Autoinflammatory Syndrome 2	Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I...	OMIM:618048
Forsythe-Wakeling Syndrome	Decreased body weight, Thrombocytopenia	OMIM:613606
Pericardial Effusion, Chronic	Polycythemia	OMIM:260900
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia	OMIM:615361
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia	OMIM:239200
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia	OMIM:616435
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia	OMIM:124900
Eosinophilic Gastroenteritis	Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Weight loss, H...	ORPHA:2070
Cyanosis, Transient Neonatal	Methemoglobinemia, Reticulocytosis, Anemia	OMIM:613977
Dengue Fever	Leukopenia, Thrombocytopenia, Hypoproteinemia	ORPHA:99828
Immunodeficiency 25	Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia...	OMIM:610163
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:614727
Sickle Cell Anemia	Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,...	ORPHA:232
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Anemia, Failure to thrive, Hypercalcemia	OMIM:241500
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism	OMIM:610539
Nephrotic Syndrome, Type 1	Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age	OMIM:256300
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc...	ORPHA:75564
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Abcd Syndrome	Polycythemia, Large for gestational age	OMIM:600501
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Severe Combined Immunodeficiency, X-Linked	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia o...	OMIM:300400
Sitosterolemia 1	Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Impaired platelet aggregation, C...	OMIM:210250
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia	OMIM:301083
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly	OMIM:612126
Immunodeficiency 105	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly...	OMIM:619924
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Failure to thrive, Lymphopenia, B lymphocytopenia, Abnormality of humora...	ORPHA:277
Bleeding Disorder, Platelet-Type, 24	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619271
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia	ORPHA:231401
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho...	OMIM:616689
Platelet Signal Processing Defect	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb...	OMIM:173590
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ...	ORPHA:169154
Folate Malabsorption, Hereditary	Failure to thrive, Leukopenia, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia	OMIM:229050
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Weight loss, Abnormal circulating polysaccharide conc...	ORPHA:103910
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc...	ORPHA:540
Hypercalcemia, Infantile, 1	Infantile hypercalcemia, Weight loss, Failure to thrive	OMIM:143880
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Beta-Thalassemia	Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th...	ORPHA:848
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Drug-Induced Lupus Erythematosus	Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Decreased s...	ORPHA:231111
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec...	OMIM:619281
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age	OMIM:618858
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Immunodeficiency 97 With Autoinflammation	Increased circulating ferritin concentration, Decreased circulating IgA level, Neutropenia in pre...	OMIM:619802
X-Linked Agammaglobulinemia	Failure to thrive, Hypocalcemia, Weight loss, Neutropenia, Agammaglobulinemia, Anemia, Thrombocyt...	ORPHA:47
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia	ORPHA:251004
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Failure to thrive, Hypoalbuminemia	OMIM:617156
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:613502
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss, Hypercalcemia, Hypernatremia	ORPHA:35710
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen...	OMIM:202700
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine	ORPHA:54057
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei...	ORPHA:158057
Fumarase Deficiency	Polycythemia, Failure to thrive, Hyperbilirubinemia	OMIM:606812
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Hepatocellular Carcinoma	Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Weight loss, Hypoalbuminemia, Hype...	ORPHA:88673
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:300448
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Decreased serum complement C3, Elevated circulating creatinine con...	OMIM:612922
Igg4-Related Aortitis	Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp...	ORPHA:449400
Bone Marrow Failure Syndrome 4	Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt...	OMIM:618116
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Familial Isolated Hyperparathyroidism	Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia	ORPHA:99879
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i...	OMIM:301082
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly	OMIM:615085
Immunodeficiency 72 With Autoinflammation	Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin...	OMIM:618982
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Preeclampsia	Increased body mass index, Small for gestational age, Elevated circulating creatinine concentrati...	ORPHA:275555
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Small for gestational age, Ani...	OMIM:224120
Analbuminemia	Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen...	OMIM:616000
Transaldolase Deficiency	Hepatosplenomegaly, Abnormal circulating glutamine concentration, Anemia, Thrombocytopenia, Incre...	ORPHA:101028
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia	OMIM:613845
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Immunodeficiency 52	Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo...	OMIM:617514
Congenital Disorder Of Glycosylation, Type Ih	Failure to thrive, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia, Thromb...	OMIM:608104
Primary Membranoproliferative Glomerulonephritis	Decreased serum complement C3, Hypoalbuminemia	ORPHA:54370
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly	OMIM:619658
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia	OMIM:619013
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res...	ORPHA:331206
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,...	OMIM:613493
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Elliptocytosis 2	Neonatal hyperbilirubinemia, Reticulocytosis, Elliptocytosis, Hemolytic anemia	OMIM:130600
Spherocytosis, Type 2	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis	OMIM:616649
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased serum complement factor H, Hyperlipidemia, Increased blood urea nitrogen, Decreased ser...	OMIM:235400
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga...	OMIM:613500
Late-Onset Isolated Acth Deficiency	Failure to thrive, Eosinophilia, Normocytic anemia, Macrocytic anemia, Hyponatremia, Hypercalcemi...	ORPHA:199299
Spherocytosis, Type 4	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612653
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:94090
Bleeding Disorder, Platelet-Type, 15	Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis	OMIM:615193
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati...	OMIM:616636
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Decreased serum complement C3, Elevated circulating creatinine con...	OMIM:612925
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto...	OMIM:159550
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Splenomegaly, Hyperammonemia, Neutropenia, Anemia, Thrombocytopenia	ORPHA:79312
Oculoskeletodental Syndrome	Small for gestational age, Hypocalcemia, Hypercalcemia, Splenomegaly	OMIM:618440
Alpha-Thalassemia	Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism	ORPHA:846
Non-Functioning Paraganglioma	Weight loss, Hypercalcemia	ORPHA:94080
Livedoid Vasculopathy	Leukocytosis, Abnormal circulating lipid concentration, Polycythemia, Hyperhomocystinemia, Abnorm...	ORPHA:542643
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi...	OMIM:155100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c...	ORPHA:247598
Hypomagnesemia 1, Intestinal	Hypomagnesemia, Hypocalcemia	OMIM:602014
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Immunodeficiency With Hyper-Igm, Type 1	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Increased ci...	OMIM:308230
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy...	ORPHA:90044
Uremic Pruritus	Increased blood urea nitrogen, Renal hypophosphatemia, Abnormality of serum cytokine level, Hyper...	ORPHA:94059
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia	OMIM:612526
Acute Adrenal Insufficiency	Failure to thrive, Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperurice...	ORPHA:95409
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age	OMIM:606176
Amed Syndrome, Digenic	Failure to thrive, Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acute myelo...	OMIM:619151
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Failure to thrive, Leukocytosis, Hypoproteinemia, Splenomegaly, Elevated circulating creatine kin...	OMIM:615895
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Decreased circulating IgA level, Decreased serum creatinine, Decreased circula...	OMIM:617744
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly	ORPHA:721
Leptospirosis	Hyperproteinemia, Thrombocytopenia	ORPHA:509
Harderoporphyria	Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Neonatal hyperbilir...	OMIM:618892
Pseudohypoparathyroidism, Type Ib	Obesity, Hypocalcemia, Hyperphosphatemia	OMIM:603233
Juvenile Polyposis Syndrome	Failure to thrive, Anemia, Hypokalemia, Hypoalbuminemia	OMIM:174900
Pyruvate Kinase Deficiency Of Red Cells	Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Unconjugated hyperbil...	OMIM:266200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod...	OMIM:300908
Stormorken Syndrome	Elevated circulating creatine kinase concentration, Anemia, Thrombocytopenia, Asplenia, Howell-Jo...	OMIM:185070
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Johanson-Blizzard Syndrome	Failure to thrive, Anemia, Hypoproteinemia	ORPHA:2315
Solute carrier family 4 (anion exchanger), member 1	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis...	OMIM:109270
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Glycogen Storage Disease Vii	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increased total bilir...	OMIM:232800
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Bone marrow hypocellularity, Hepatosplenomegaly, Th...	ORPHA:210136
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, Hypereosinophil...	ORPHA:2902
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Iron deficiency anemia, Hypocalcemia	ORPHA:89937
Citrullinemia Type Ii	Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D...	ORPHA:247585
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Decreased mean corpuscular volume, Failure to thrive, Hypokalemia, Hepatosplenomegaly, Hemolytic ...	OMIM:611590
Oculocerebrodental Syndrome	Hypocalcemia, Hypercalcemia	ORPHA:557003
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, N...	OMIM:304790
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he...	OMIM:612926
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Elevated circulating cr...	ORPHA:26793
Hepatoportal Sclerosis	Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl...	ORPHA:64743
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Decreased circulating ferritin concentration, Splenomegaly, Polycythemia, Abnormal transferrin sa...	ORPHA:309854
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:603909
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Abnormal lymphocyte morphology	OMIM:609529
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypomagnesemia, Hypokalemia, Hypocalcemia, Cachexia, Anemia	OMIM:175500
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope...	OMIM:610629
Mastocytosis	Splenomegaly, Mastocytosis, Chronic leukemia, Hypercalcemia, Acute leukemia	ORPHA:98292
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis	OMIM:247800
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Spherocytosis, Type 1	Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:182900
2P21 Microdeletion Syndrome	Failure to thrive, Hypocalcemia	ORPHA:163693
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr...	ORPHA:35858
Congenital Enterovirus Infection	Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro...	ORPHA:292
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hyperammonemia, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia	ORPHA:27
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic anemia, Reticulocyt...	OMIM:235700
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto...	OMIM:615631
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb...	OMIM:614470
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Thrombocytopenia	ORPHA:67048
Acute Interstitial Pneumonia	Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv...	ORPHA:79126
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185000
Transcobalamin Ii Deficiency	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci...	OMIM:275350
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Hypocalcemia, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia	OMIM:259700
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Neutropenia, Hyperammonemia	ORPHA:289916
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia	OMIM:251880
Chronic Bilirubin Encephalopathy	Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia	ORPHA:529808
Acute Bilirubin Encephalopathy	Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia	ORPHA:529799
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Iron-Refractory Iron Deficiency Anemia	Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis	OMIM:206200
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia	OMIM:616176
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:314050
Chédiak-Higashi Syndrome	Increased circulating ferritin concentration, Abnormal leukocyte morphology, Neutropenia, Vacuola...	ORPHA:167
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Systemic Lupus Erythematosus 17	Lymphopenia, Decreased serum complement C3, Leukopenia, Decreased serum complement C4, Autoimmune...	OMIM:301080
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Kimura Disease	Eosinophilia, Increased circulating IgE level	ORPHA:482
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c, Small for gestational age	OMIM:619278
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:2239
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Poems Syndrome	Polycythemia, Thrombocytosis, Weight loss, Increased circulating antibody level	ORPHA:2905
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Wolcott-Rallison Syndrome	Decreased body weight, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Iron deficiency anemia,...	ORPHA:1667
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Neutropenia, Hyperammonemia, Hyperglycinemia, Methylmalonic acidemia, Pancytop...	OMIM:251110
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Alg6-Cdg	Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia	ORPHA:79320
Addison Disease	Failure to thrive, Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperurice...	ORPHA:85138
Diffuse Alveolar Hemorrhage	Leukocytosis, Decreased serum complement C3, Decreased serum complement C4, Elevated circulating ...	ORPHA:90060
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ...	OMIM:231200
Hypocalcemia, Autosomal Dominant 1	Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia	OMIM:601198
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Galloway-Mowat Syndrome 6	Decreased body weight, Hypoalbuminemia	OMIM:618347
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Spherocytosis, Type 5	Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,...	OMIM:612690
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Wt Limb-Blood Syndrome	Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia	OMIM:194350
Thymic Neuroendocrine Tumor	Weight loss, Hypercalcemia	ORPHA:97289
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci...	OMIM:618969
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hype...	OMIM:614857
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia	OMIM:612089
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Failure to thrive, Decreased circulating IgA level, Lymphopenia, Splenomegaly, Aplasia of the thy...	OMIM:102700
Relapsing Fever	Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In...	ORPHA:91547
Wolfram Syndrome, Mitochondrial Form	Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia	OMIM:598500
Gaucher Disease, Type Iii	Decreased body weight, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Anemia, Hypocalcemia	ORPHA:53
Gaucher Disease, Type Ii	Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly	OMIM:230900
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Thrombocytopenia	OMIM:617021
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Neutropenia, Hyperammonemia, Hyperglycinemia, Methylmalonic acidemia, Pancytop...	OMIM:251100
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypomagnesemia, Hypocalcemia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly,...	ORPHA:37042
Kenny-Caffey Syndrome, Type 1	Anemia, Hypomagnesemia, Hypocalcemia	OMIM:244460
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619510
Amoebiasis Due To Entamoeba Histolytica	Anemia, Weight loss, Hypoalbuminemia, Leukocytosis	ORPHA:67
Congenital Toxoplasmosis	Anemia, Thrombocytopenia, Failure to thrive in infancy	ORPHA:858
Hereditary Folate Malabsorption	Megaloblastic anemia, Failure to thrive, Eosinophilia, Decreased circulating antibody level, Panc...	ORPHA:90045
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Proteasome-Associated Autoinflammatory Syndrome 3	Increased circulating antibody level, Failure to thrive, Lymphopenia, Splenomegaly, Hypertriglyce...	OMIM:617591
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia	OMIM:145980
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619752
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Failure to thrive, Hypoalbuminemia, Decreased circulating copper concentration, Decreased circula...	OMIM:242150
Mevalonic Aciduria	Failure to thrive, Elevated circulating C-reactive protein concentration, Fluctuating splenomegal...	OMIM:610377
Thrombocytopenia 1	Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int...	OMIM:313900
Rh Deficiency Syndrome	Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem...	ORPHA:71275
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp...	OMIM:606367
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Anemia, Congenital thrombocytopenia, Leukocytosis	OMIM:618886
Immunodeficiency 91 And Hyperinflammation	Failure to thrive, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophago...	OMIM:619644
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Elevated circulating creatine kinase concentration, Normochromic anemi...	OMIM:618775
Isolated Agammaglobulinemia	Failure to thrive, Abnormal lymphocyte morphology, Abnormality of neutrophils, Anemia, Thrombocyt...	ORPHA:229717
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:608106
+173470 integrin, beta-3	Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ...	OMIM:173470
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Hypermagnesemia	OMIM:145981
Insulin-Resistance Syndrome Type B	Decreased body weight, Increased circulating IgA level, Abnormal circulating fatty-acid concentra...	ORPHA:2298
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Primary Myelofibrosis	Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy...	ORPHA:824
Hereditary Elliptocytosis	Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, ...	ORPHA:288
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Increased circulating ferritin concentration, Splenomegaly, Increased red cell hemolysis by shear...	OMIM:194380
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hyperammonemia, Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Neutropen...	OMIM:251000
Idiopathic Aplastic Anemia	Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia	ORPHA:88
Immunodeficiency By Defective Expression Of Mhc Class Ii	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Failure to th...	ORPHA:572
Celiac Disease, Susceptibility To, 1	Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Iron deficiency anemia, Macrocy...	OMIM:212750
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:231095
Holocarboxylase Synthetase Deficiency	Weight loss, Thrombocytopenia, Hyperammonemia	ORPHA:79242
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Hypoproteinemia, Splenomegaly	OMIM:235255
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis	OMIM:300367
Avian Influenza	Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat...	ORPHA:454836
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Thrombocytopenia	OMIM:614946
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Megaloblastic anemia, Failure to thrive, Neutropenia, Hyperhomocystinemia, Cystathioninemia, Meth...	OMIM:277380
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Leukopenia, Hypoalbuminemia, Increased circulating IgM level, Neutropenia, Bone mar...	OMIM:617303
Overhydrated Hereditary Stomatocytosis	Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co...	ORPHA:3203
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Mic...	OMIM:274150
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Griscelli Syndrome	Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Abnormality of neutrophils, D...	ORPHA:381
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Thrombocytopenia, Lymphopenia	OMIM:616744
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia	OMIM:617575
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Specific Granule Deficiency 2	Failure to thrive, Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules	OMIM:617475
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis	ORPHA:33574
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Failure to thrive, Splenomegaly, Impaired ...	OMIM:614576
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Propionic Acidemia	Failure to thrive, Neutropenia, Hyperammonemia, Hyperglycinemia, Pancytopenia, Anemia, Thrombocyt...	OMIM:606054
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Immunodeficiency 47	Failure to thrive, Splenomegaly, Decreased circulating total IgA, Leukopenia, Accessory spleen, N...	OMIM:300972
Immunodeficiency 96	Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev...	OMIM:619774
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma...	OMIM:618849
Mpi-Cdg	Failure to thrive, Hypoalbuminemia	ORPHA:79319
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia, Hyponatremia	ORPHA:83601
Al Amyloidosis	Increased circulating antibody level, Increased circulating NT-proBNP concentration, Weight loss,...	ORPHA:85443
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Small for gestational age, Hyperphosphatemia, Transient hypophosphatemia, Anemia	OMIM:127000
Wiskott-Aldrich Syndrome, Autosomal Dominant	Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev...	OMIM:600903
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi...	OMIM:618394
Diarrhea 10, Protein-Losing Enteropathy Type	Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Decreased circulating antibody level, Hypoalb...	OMIM:618183
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal...	OMIM:601399
Fechtner syndrome	Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets	OMIM:153640
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss, Hypercalcemia	ORPHA:276621
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Vipoma	Weight loss, Hypokalemia, Normochromic anemia, Hypercalcemia	ORPHA:97282
Slc35A1-Cdg	Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia	ORPHA:238459
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia	OMIM:208920
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Hypercalcemia, Hypermagnesemia	OMIM:600740
Immunodeficiency 92	Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ...	OMIM:619652
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Leukopenia, Thrombocytopenia	OMIM:614171
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia	OMIM:156400
Stt3B-Cdg	Failure to thrive, Thrombocytopenia	ORPHA:370924
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Vexas Syndrome	Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia	OMIM:301054
Anemia, Congenital Dyserythropoietic, Type Ii	Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Isovaleric Acidemia	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Pancytopenia	OMIM:243500
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia	ORPHA:713
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Decr...	OMIM:616100
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Failure to thrive, Large for gestational age, Neutropenia, Bone marrow hypocellularity, Anemia, T...	OMIM:614520
Lysosomal Acid Lipase Deficiency	Failure to thrive, Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Dec...	OMIM:278000
Cog4-Cdg	Hepatosplenomegaly, Thrombocytopenia, Failure to thrive in infancy, Hypercholesterolemia	ORPHA:263501
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Failure to thrive, Hypercalcemia	ORPHA:476126
Bartter Syndrome, Type 1, Antenatal	Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Increased circulating ...	OMIM:601678
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Thrombocytopenia	OMIM:615597
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly	ORPHA:1655
S-Adenosylhomocysteine Hydrolase Deficiency	Failure to thrive, Elevated circulating creatine kinase concentration, Abnormal circulating methi...	ORPHA:88618
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating IgA level, Decreased circulating total IgM, Hypertriglyceridemia, Hypercalc...	ORPHA:369837
Deafness-Lymphedema-Leukemia Syndrome	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Bone marrow h...	ORPHA:3226
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased body weight, Abnormal circulating selenium concentration, Decreased ...	ORPHA:89842
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:605258
Acquired Purpura Fulminans	Thrombocytopenia, Elevated circulating C-reactive protein concentration	ORPHA:49566
Aggressive Systemic Mastocytosis	Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I...	ORPHA:98850
Ring Chromosome 10 Syndrome	Cachexia, Hypocalcemia	ORPHA:1438
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Glucagonoma	Normochromic anemia, Weight loss, Acanthocytosis, Hypercalcemia	ORPHA:97280
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope...	OMIM:301078
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei...	ORPHA:405
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport...	OMIM:243700
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Elevated cre...	ORPHA:99901
Somatostatinoma	Weight loss, Hypochromic microcytic anemia, Hypercalcemia	ORPHA:97283
Gracile Bone Dysplasia	Failure to thrive, Hypocalcemia, Hypoplastic spleen, Asplenia	OMIM:602361
Alg12-Cdg	Failure to thrive, Partial absence of specific antibody response to Haemophilus influenzae type b...	ORPHA:79324
Immunodeficiency, Common Variable, 8, With Autoimmunity	Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly...	OMIM:614700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:611926
Babesiosis	Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly	ORPHA:108
Trichohepatoenteric Syndrome 1	Failure to thrive, Splenomegaly, Small for gestational age, Hypermethioninemia, Abnormality of ir...	OMIM:222470
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:610333
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Bleeding Disorder, Platelet-Type, 17	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187900
Renal Tubular Acidosis, Distal, 1</

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