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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 circulating calcium level	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	2.30×10^-05
decreased body weight	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	5.62×10^-07
increased circulating serum albumin level	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	3.61×10^-08
decreased IgE level	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	1.24×10^-05
increased hematocrit	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	3.27×10^-06
increased circulating alkaline phosphatase level	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	1.67×10^-07
increased erythrocyte cell number	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	1.39×10^-06
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 total protein level	Zfp760^{tm1a(EUCOMM)Hmgu}	HET	Early adult	5.44×10^-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 (956 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	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Weight loss, Increased circulating I...	ORPHA:29073
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis, Increased alpha-globulin	OMIM:235900
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp...	ORPHA:3202
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Elevated haptoglobin level, Abnormal circulatin...	OMIM:620632
Diffuse Neonatal Hemangiomatosis	Anemia, Hypercalcemia, Thrombocytopenia	ORPHA:2123
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin...	OMIM:613673
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Hypomagnesemia, Lymphopenia, Decreased circulat...	ORPHA:90362
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Failure to thrive, Increase...	OMIM:263400
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia, Decreased circulating IgG level	OMIM:152800
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Ane...	OMIM:209950
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Hypercalcemia	ORPHA:2668
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Increased cir...	OMIM:618944
Rhabdoid Tumor	Anemia, Weight loss, Hypercalcemia, Thrombocytopenia	ORPHA:69077
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Immunodeficiency 32B	Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Spl...	OMIM:226990
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level, Hypoproteinemia	ORPHA:1116
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Enterokinase Deficiency	Hypoproteinemia, Failure to thrive	OMIM:226200
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr...	OMIM:616050
Tempi Syndrome	Increased hematocrit, Polycythemia, Increased circulating IgG level	ORPHA:284227
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Malaria	Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha...	OMIM:308240
Alpha-Heavy Chain Disease	Anemia, Splenomegaly, Hypocalcemia, Dysgammaglobulinemia	ORPHA:100025
Hypophosphatasia	Failure to thrive in infancy, Anemia, Hypercalcemia	ORPHA:436
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased circulating ferritin concentratio...	OMIM:267700
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia...	OMIM:620481
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increase...	ORPHA:507
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Adamantinoma	Hypercalcemia	ORPHA:55881
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased total bilirubin, Increased circul...	OMIM:603553
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Decreased circulating antibody l...	OMIM:226300
Atypical Hemolytic Uremic Syndrome	Decreased circulating complement factor B concentration, Abnormality of complement system, Microa...	ORPHA:2134
Erythroderma, Lethal Congenital	Hypoalbuminemia, Failure to thrive	OMIM:227090
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile...	OMIM:619868
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia, Failure to thrive	OMIM:616963
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia...	OMIM:603554
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn...	OMIM:212050
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Abnormality of thrombocytes, Hypocalcemia, Failure to thrive	ORPHA:172
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Ménétrier Disease	Hypoalbuminemia, Weight loss, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Decreased circulatin...	OMIM:617514
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Immunodeficiency 46	Failure to thrive, Neutropenia, Anemia, Decreased circulating antibody level, Intermittent thromb...	OMIM:616740
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia, Failure to...	OMIM:613752
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating ferritin concentration, Increased circulat...	OMIM:620603
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Anemia, Hyperlipidemia	OMIM:603278
Diarrhea 13	Hypoalbuminemia, Failure to thrive	OMIM:620357
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert...	OMIM:603552
Hypermanganesemia With Dystonia 1	Unconjugated hyperbilirubinemia, Hypermanganesemia, Polycythemia, Increased total iron binding ca...	OMIM:613280
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega...	OMIM:607616
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Increased circulating antibody level, Hypercholesterole...	ORPHA:86816
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c...	OMIM:614493
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hypercalcemia, Infantile, 1	Weight loss, Hypercalcemia, Failure to thrive	OMIM:143880
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis	OMIM:179700
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Failure to thrive in infancy, Decreased proportion of CD8-positive T cells, Increased circulating...	OMIM:617241
Caspase 8 Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased CD4:CD8 ratio, Decreased circulatin...	OMIM:607271
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia	OMIM:133180
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia	OMIM:618805
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Pancytopenia, ...	OMIM:618963
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia, Failure to thrive	OMIM:239199
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Increased circulating ...	OMIM:615767
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Macrophage Activation Syndrome	Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki...	ORPHA:158061
Cernunnos-Xlf Deficiency	Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T...	ORPHA:169079
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a...	OMIM:617021
Blue Diaper Syndrome	Increased body weight, Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Eosinophilic Gastroenteritis	Hypoalbuminemia, Leukocytosis, Anemia, Weight loss, Eosinophilia, Elevated circulating C-reactive...	ORPHA:2070
Forsythe-Wakeling Syndrome	Thrombocytopenia, Decreased body weight	OMIM:613606
Hyperparathyroidism, Neonatal Severe	Failure to thrive, Splenomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia	OMIM:239200
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Abnormal circulating IgM level, Increa...	OMIM:618048
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Agammaglobul...	OMIM:300400
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Failure to...	OMIM:618987
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Thrombocytopenia, Elevated circulating creatine kinase concentration	OMIM:614727
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Anemia, Hypercalcemia, Failure to thrive	OMIM:241500
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Congenital Lethal Erythroderma	Hypoalbuminemia, Failure to thrive	ORPHA:1954
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anemia, Thrombocytopenia, Neutropenia, Monocytosis	OMIM:620534
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age	OMIM:256300
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega...	OMIM:619924
Abcd Syndrome	Large for gestational age, Polycythemia	OMIM:600501
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level	OMIM:612126
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi...	OMIM:210250
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased proportio...	ORPHA:169154
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:610539
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age	OMIM:618858
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole...	OMIM:246700
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody...	OMIM:618116
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Decrease...	OMIM:619802
X-Linked Agammaglobulinemia	Failure to thrive, Hypocalcemia, Agammaglobulinemia, Weight loss, Neutropenia, Thrombocytopenia, ...	ORPHA:47
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L...	OMIM:619281
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Beta-Thalassemia	Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir...	ORPHA:848
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased c...	ORPHA:540
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ...	ORPHA:103910
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Hypercalcemia, Increased blood urea nitrogen, Episodic hemolytic anemia	ORPHA:251004
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Anemia, Decreased circulating complement C4 c...	ORPHA:231111
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Failure to thrive, Lack of T cell function, Increased circulatin...	ORPHA:277
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Failure to thrive, Increased circulating IgE level, Decreased ci...	ORPHA:98813
Glucose-Galactose Malabsorption	Weight loss, Hypercalcemia, Failure to thrive, Hypernatremia	ORPHA:35710
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia	ORPHA:54057
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Folate Malabsorption, Hereditary	Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia	OMIM:619013
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Failure to thrive, Hyperuricemia, Macrocytic anemia, Hyponatremia, Eosinophili...	ORPHA:199299
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos...	ORPHA:158057
Transaldolase Deficiency	Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce...	ORPHA:101028
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increas...	OMIM:613845
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Elevated circulating creatinine concentration, Thrombocytopen...	OMIM:608104
Non-Functioning Paraganglioma	Weight loss, Hypercalcemia	ORPHA:94080
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Weight loss, Elevated circulati...	ORPHA:2902
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Elevated creatine kinase after exercise	ORPHA:284426
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Splenomegaly, Hyperammonemia, Neutropenia, Thrombocytopenia, Anemia	ORPHA:79312
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai...	OMIM:615592
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Failure to thrive, Pancytopenia, Decreased circulating IgA level...	OMIM:275350
Oculoskeletodental Syndrome	Splenomegaly, Small for gestational age, Hypercalcemia, Hypocalcemia	OMIM:618440
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Failure to thrive, Abnormal c...	OMIM:308230
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:616435
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age	OMIM:606176
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Hyperuricemia, Hyponatremia, Weight loss, Hyperkalemia, Hyp...	ORPHA:95409
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy...	OMIM:155100
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Decreased circulating IgA level, Decrease...	OMIM:617744
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal...	ORPHA:247598
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased circulating complement factor B concentration, Microangiopathic hemolytic anemia, Eleva...	OMIM:235400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Hepatosplenomegaly, Thrombocytopenia, Increased circulating ferritin...	ORPHA:210136
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:616649
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Decreased circulating complement C3 concentration	ORPHA:54370
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:612653
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Abnormal circulating cytokine concentration, Increased b...	ORPHA:94059
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Livedoid Vasculopathy	Abnormality of complement system, Polycythemia, Abnormal circulating lipid concentration, Pancyto...	ORPHA:542643
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Johanson-Blizzard Syndrome	Anemia, Hypoproteinemia, Failure to thrive	ORPHA:2315
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Failure to thrive, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration...	OMIM:615895
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosi...	OMIM:304790
Aicardi-Goutieres Syndrome 6	Increased circulating Interferon-alpha concentration, Hemolytic anemia, Splenomegaly, Thrombocyto...	OMIM:615010
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic an...	OMIM:235700
Amed Syndrome, Digenic	Bone marrow hypocellularity, Failure to thrive, Leukopenia, Acute myeloid leukemia, Thrombocytope...	OMIM:619151
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Generalized Pustular Psoriasis	Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated circula...	ORPHA:247353
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Juvenile Polyposis Syndrome	Hypoalbuminemia, Anemia, Failure to thrive, Hypokalemia	OMIM:174900
Leptospirosis	Hyperproteinemia, Thrombocytopenia	ORPHA:509
Gray Platelet Syndrome	Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia	OMIM:612526
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:603909
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Leukocytosis, Weight loss, Decreased circulating c...	ORPHA:90060
Pseudohypoparathyroidism, Type Ib	Obesity, Hyperphosphatemia, Hypocalcemia	OMIM:603233
Pyruvate Kinase Deficiency Of Red Cells	Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Red...	OMIM:266200
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Reticulocytosis, Splen...	OMIM:618892
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Obesity, Hyperammonemia, Hypocalcemia, Elevated circ...	ORPHA:26793
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Decreased circulating complement C3 concentration, Decreased circulating...	OMIM:301080
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Citrullinemia Type Ii	Hypoalbuminemia, Decreased body mass index, Decreased HDL cholesterol concentration, Hyperlipidem...	ORPHA:247585
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia, Iron deficiency anemia	ORPHA:89937
Osteopetrosis, Autosomal Recessive 8	Anemia, Splenomegaly, Failure to thrive, Thrombocytopenia	OMIM:615085
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Decreased mean corpuscular v...	OMIM:611590
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Polycythemia, Increased total iron binding capacit...	ORPHA:309854
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anemia	OMIM:175500
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Immunodeficiency 61	Decreased circulating total IgM, Obesity, Decreased circulating IgG2 level, Decreased circulating...	OMIM:300310
Immunodeficiency 22	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased pr...	OMIM:615758
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:79126
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
2P21 Microdeletion Syndrome	Hypocalcemia, Failure to thrive	ORPHA:163693
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt...	OMIM:612692
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia	ORPHA:289916
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Hepatoportal Sclerosis	Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A...	ORPHA:64743
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia, Anemia	ORPHA:27
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Thrombocytopenia	ORPHA:67048
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Addison Disease	Normocytic anemia, Failure to thrive, Hyperuricemia, Thiamine-responsive megaloblastic anemia, Hy...	ORPHA:85138
Spherocytosis, Type 1	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:182900
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia	ORPHA:529808
Congenital Enterovirus Infection	Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro...	ORPHA:292
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia	ORPHA:529799
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Maturity-Onset Diabetes Of The Young, Type 13	Elevated hemoglobin A1c, Reduced C-peptide level, Abnormality of body mass index	OMIM:616329
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia	OMIM:259700
Wolcott-Rallison Syndrome	Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Decreased body weight, Hyponatremia, Iron de...	ORPHA:1667
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration, Failure to thrive	ORPHA:79320
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
Thymic Neuroendocrine Tumor	Weight loss, Hypercalcemia	ORPHA:97289
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Poems Syndrome	Polycythemia, Splenomegaly, Increased circulating antibody level, Weight loss, Thrombocytosis	ORPHA:2905
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Relapsing Fever	Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi...	ORPHA:91547
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hypomagnesemia, Failure to thrive in infancy, Increased circulating IgE level, H...	ORPHA:37042
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis	ORPHA:729
Hereditary Folate Malabsorption	Failure to thrive, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased ...	ORPHA:90045
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level...	OMIM:301110
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Congenital Toxoplasmosis	Failure to thrive in infancy, Anemia, Thrombocytopenia	ORPHA:858
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hype...	OMIM:614857
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
Kenny-Caffey Syndrome, Type 1	Anemia, Hypocalcemia, Hypomagnesemia	OMIM:244460
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Celiac Disease, Susceptibility To, 1	Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Macrocytic anemia, Iron deficie...	OMIM:212750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Failure to thrive, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA level,...	OMIM:102700
Mevalonic Aciduria	Failure to thrive, Fluctuating splenomegaly, Failure to thrive in infancy, Hepatosplenomegaly, Le...	OMIM:610377
Albers-Schönberg Osteopetrosis	Anemia, Hypocalcemia, Abnormal leukocyte morphology	ORPHA:53
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Anemia, Weight loss, Leukocytosis	ORPHA:67
Methylmalonic Aciduria, Cblb Type	Failure to thrive, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglyc...	OMIM:251110
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Intraalveolar phospholipid accumulation, Increased circulating IgE level, Leukocytosis, Autoimmun...	OMIM:620565
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Thrombocytopenia, Decreased body weight	OMIM:231000
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Failure to thrive, Increased serum bile acid concentration, Decreased circulatin...	OMIM:242150
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Increased circulating IgE lev...	OMIM:619752
Tafro Syndrome	Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Leukocytosis, Splenomegaly...	ORPHA:457077
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Fumarase Deficiency	Polycythemia, Hyperbilirubinemia, Failure to thrive	OMIM:606812
Avian Influenza	Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr...	ORPHA:454836
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve...	ORPHA:71275
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Glycogen Storage Disease Vii	Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocyto...	OMIM:232800
Isolated Agammaglobulinemia	Failure to thrive, Abnormal lymphocyte morphology, Thrombocytopenia, Anemia, Abnormality of neutr...	ORPHA:229717
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia, Anemia, Small for gestational age	OMIM:127000
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Monocytosis, Thrombocytopenia, Neutrophi...	OMIM:619644
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Splenomegaly, Increased circulating antibody level, Thrombocytope...	OMIM:617591
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Congenital thrombocytopenia, Increased circulating ferritin concentration	OMIM:618886
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Immunodeficiency 96	Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp...	OMIM:619774
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Splenomegaly, Hypoproteinemia, Hypocalcemia	OMIM:235255
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c, Small for gestational age	OMIM:619278
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Increased mean corpuscular hemoglobin concentration, Increased circulating ferritin concentration...	OMIM:194380
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Reduced C-peptide level	OMIM:610582
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Thrombocytopenia, Small for gestational age, Normochromic anemia, Elevated circulating creatine k...	OMIM:618775
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Decreased lymphocyte proliferation in re...	ORPHA:572
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Propionic Acidemia	Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, ...	OMIM:606054
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia...	OMIM:185070
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration	ORPHA:3240
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Decreased circulating complement factor B concentration, Hypotriglyceridemia, Ab...	ORPHA:2298
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Specific Granule Deficiency 2	Failure to thrive, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia, Anemia	OMIM:617475
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre...	OMIM:617443
Holocarboxylase Synthetase Deficiency	Weight loss, Hyperammonemia, Thrombocytopenia	ORPHA:79242
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis	OMIM:300367
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss, Hypercalcemia	ORPHA:276621
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Increased circulating IgE level, Failure to thrive, Hypernatremia	OMIM:615508
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hypercalcemia, Hyperphosphatemia, Calcinosis	OMIM:211900
Preeclampsia	Elevated circulating creatinine concentration, Small for gestational age, Thrombocytopenia, Incre...	ORPHA:275555
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Neutropenia, Thrombocytop...	OMIM:617303
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ...	OMIM:618394
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Cog4-Cdg	Failure to thrive in infancy, Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia	ORPHA:263501
Griscelli Syndrome	Bone marrow hypocellularity, Abnormal circulating lipid concentration, Leukopenia, Splenomegaly, ...	ORPHA:381
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated ...	OMIM:251880
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Atelis Syndrome 1	Anemia, Leukopenia, Thrombocytopenia, Decreased lymphocyte proliferation in response to anti-CD3	OMIM:620184
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Monosomy 13Q34	Obesity, Hypercalcemia	ORPHA:96168
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Failure to thrive, Chronic ...	OMIM:300972
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Increased circulating antibody level, Increased circulating...	ORPHA:85443
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Failure to thrive, Splenomegaly	OMIM:608776
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Failure to thrive, Impaired T cell functio...	OMIM:614576
Mpi-Cdg	Hypoalbuminemia, Failure to thrive	ORPHA:79319
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Splenomegaly, Hepatosplenomegaly, Hypoproteinemia, Hypocalcemia	ORPHA:1655
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia	OMIM:600740
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Bone marrow hypocellularity, Failure to thrive, Large for gestational age, Thrombocytopenia, Neut...	OMIM:614520
Slc35A1-Cdg	Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules	ORPHA:238459
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Failure to thrive,...	OMIM:601678
Osteopetrosis, Autosomal Recessive 4	Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis	OMIM:611490
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia	OMIM:156400
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Decreased T...	OMIM:618213
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Anemia of inadequate production, Reticulocytosis	OMIM:224100
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Failure to thrive, Pancytopenia, Decreased circulating IgA level...	OMIM:614700
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Vipoma	Hypokalemia, Weight loss, Hypercalcemia, Normochromic anemia	ORPHA:97282
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Failure to thrive	ORPHA:476126
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Stt3B-Cdg	Failure to thrive, Thrombocytopenia	ORPHA:370924
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	ORPHA:713
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Decreased circulat...	OMIM:616100
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Obesity, Decreased circulating IgA level, Hypertriglyceridemia, Decreased circulating total IgM, ...	ORPHA:369837
Fetal Cytomegalovirus Syndrome	Anemia, Conjugated hyperbilirubinemia, Splenomegaly, Thrombocytopenia	ORPHA:294
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia	OMIM:617994
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Failure to thrive, Elevated circulating propionylcarnitine concentration, Pancy...	OMIM:277380
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Aggressive Systemic Mastocytosis	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast...	ORPHA:98850
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocyto...	ORPHA:3226
Prolidase Deficiency	Failure to thrive, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia	OMIM:170100
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, ...	OMIM:251100
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:618523
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio...	OMIM:222470
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:49566
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly...	OMIM:612783
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Failure to thrive	OMIM:616069
Cholesteryl Ester Storage Disease	Failure to thrive, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hy...	OMIM:278000
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Ring Chromosome 10 Syndrome	Cachexia, Hypocalcemia	ORPHA:1438
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Thrombocytopenia	OMIM:615597
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Leukopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, Me...	OMIM:251000
Vexas Syndrome	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia	OMIM:301054
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Alg12-Cdg	Hypoalbuminemia, Failure to thrive, Abnormal circulating IgM level, Hypocholesterolemia, Complete...	ORPHA:79324
Aicardi-Goutieres Syndrome 5	Increased circulating interferon-gamma concentration, Thrombocytopenia	OMIM:612952
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Hypocalcemia, Failure to thrive	OMIM:602361
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level...	ORPHA:330015
Babesiosis	Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia	ORPHA:108
Isovaleric Acidemia	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:243500
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Abnormal circulating homocysteine concent...	ORPHA:88618
Alg8-Cdg	Failure to thrive, Hyponatremia, Thrombocytopenia, Anemia, Small for gestational age	ORPHA:79325
Down Syndrome	Polycythemia, Obesity, Acute megakaryocytic leukemia, Thrombocytopenia, Neutrophilia, Leukemia	ORPHA:870
Reni Syndrome	Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia	OMIM:617575
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:610333
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Glucagonoma	Weight loss, Hypercalcemia, Acanthocytosis, Normochromic anemia	ORPHA:97280
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Castleman Disease	Increased circulating interleukin 6 concentration, Anemia, Weight loss, Thrombocytopenia, Elevate...	ORPHA:160
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration,...	ORPHA:90363
Somatostatinoma	Weight loss, Hypercalcemia, Hypochromic microcytic anemia	ORPHA:97283
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:620532
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Panhypogammaglobulinemia...	OMIM:602450
Pelger-Huet Anomaly	Giant platelets, Failure to thrive, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocy...	OMIM:169400
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Decreased circ...	OMIM:618183
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Hypocalcemia...	OMIM:607143
Tularemia	Anemia, Leukocytosis, Thrombocytopenia, Increased circulating antibody level	ORPHA:3392
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Hyperbilirubinemia	OMIM:613070
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu...	ORPHA:169160
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia	ORPHA:93324
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin...	ORPHA:94093
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age	ORPHA:621
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Failure t...	ORPHA:443811
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia	ORPHA:49827
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Hereditary Pheochromocytoma-Paraganglioma	Weight loss, Hypercalcemia	ORPHA:29072
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Failure to thrive	OMIM:606407
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Colchicine Poisoning	Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal...	ORPHA:31824
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatosplenomegaly, Failure to thrive	ORPHA:367
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot...	OMIM:620210
Immunodeficiency 23	Failure to thrive, Increased circulating IgE level, Lymphopenia, Eosinophilia, Neutropenia, Incre...	OMIM:615816
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Hypert...	OMIM:618620
Gaucher Disease Type 1	Elevated circulating CCL18 level, Splenic infarction, Increased circulating ferritin concentratio...	ORPHA:77259
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Failure to thrive, Leukocytosis, Hypocalcemia, Splenomegaly, Hypophosphatemia...	ORPHA:289157
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Decreased circulating IgG level, Failure to thrive, Hypocholesterolemia, Decreas...	OMIM:212065
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Failure to thrive, Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirub...	OMIM:617093
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia	OMIM:603585
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:36913
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Obesity, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat...	ORPHA:64753
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla...	ORPHA:231222
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Abnormal erythrocyte morphology,...	ORPHA:288
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Reduced natural killer cell count, Decreased lymphocyte proliferation in respons...	OMIM:619381
Boutonneuse Fever	Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia	ORPHA:83313
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia,...	OMIM:259720
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na...	ORPHA:276
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Failure to thrive, Thrombocytopenia	OMIM:616577
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Failure to thrive, Hepatosplenomegaly, Weight loss, Anemia, Hemolytic anemia	OMIM:619487
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Mirage Syndrome	Lymphopenia, Leukopenia, Decreased body weight, Hyponatremia, Thrombocytopenia, Anemia, Hyperkale...	OMIM:617053
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin...	ORPHA:36234
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	ORPHA:436159
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Failure to thrive	OMIM:602579
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	OMIM:152700
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Failure to thrive, Abnormal proportion of naive CD4 T cells, Impaire...	ORPHA:1830
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Panhypoga...	ORPHA:79124
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	OMIM:203400
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia, Failure to t...	OMIM:256500
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	OMIM:610600
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia, Failure to thrive	OMIM:600081
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia, Decreased circulating antibody level, Failure to thrive	ORPHA:79396
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Small for gestational age	OMIM:616943
Abetalipoproteinemia	Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnormal circulatin...	ORPHA:14
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Leukocytosis, Splenomegaly, Decreased body wei...	ORPHA:90051
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Abnormal lymphocyte physiology, Weight loss, Le...	ORPHA:99867
Wilson Disease	Failure to thrive, Splenomegaly, Increased body weight, Weight loss, Thrombocytopenia, Anemia	ORPHA:905
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,...	OMIM:612782
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Failure to thrive, Abnormal leukocyte morphology, Thrombocytopenia, ...	ORPHA:3322
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Failure to thrive, Increased circulating IgE level, Decreased ...	OMIM:243700
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Increased LDL cholesterol concentration, Hepat...	ORPHA:470
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Decreased ...	OMIM:301000
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem...	ORPHA:100026
Pheochromocytoma	Hypercalcemia	OMIM:171300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Bone marrow hypocellularity, Decreased circulating IgG level, Hepatosplenomegaly...	ORPHA:505248
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv...	ORPHA:231226
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Small for gestational age, Abnormal T cell morphology	OMIM:215250
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Hypercholesterolemia	OMIM:616730
Transaldolase Deficiency	Failure to thrive, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Smal...	OMIM:606003
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia	OMIM:150550
Phosphoglycerate Kinase 1 Deficiency	Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis	OMIM:300653
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid...	ORPHA:567548
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating creatinine concentration, Reduced hematocrit, Increased c...	ORPHA:91500
Pseudohypoparathyroidism Type 1B	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94089
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Failure to thrive, Hemophagocytosis, Increased circulati...	OMIM:222700
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Failure to thrive, Lymphocytosis, Thrombocytopenia, Elevated circ...	OMIM:617718
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia, Failure to thrive	OMIM:264700
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Decreased circula...	OMIM:612301
Congenital Rubella Syndrome	Anemia, Splenomegaly, Thrombocytopenia	ORPHA:290
Neuroblastoma	Anemia, Weight loss, Thrombocytopenia, Increased circulating ferritin concentration	ORPHA:635
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv...	ORPHA:231214
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Weight loss, Neutropen...	ORPHA:47612
Liver Disease, Severe Congenital	Failure to thrive, Increased circulating ferritin concentration, Leukopenia, Hyperbilirubinemia, ...	OMIM:619991
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Neutropenia...	OMIM:242900
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Pearson Marrow-Pancreas Syndrome	Failure to thrive, Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Refractory sideroblast...	OMIM:557000
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eosinophilia, Decreased circulating IgA level	OMIM:618282
Necrotizing Enterocolitis	Leukocytosis, Hyponatremia, Thrombocytopenia, Neutropenia, Small for gestational age	ORPHA:391673
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Large for gestational age, Thrombocytopenia	OMIM:616638
Fibrous Dysplasia Of Bone	Hypophosphatemia, Hypercalcemia	ORPHA:249
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Hereditary Spherocytosis	Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary...	ORPHA:822
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia	OMIM:613987
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia	ORPHA:398124
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Weight loss, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Shwachman-Diamond Syndrome	Normocytic anemia, Hypoamylasemia, Bone marrow hypocellularity, Aplastic anemia, Failure to thriv...	ORPHA:811
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Shwachman-Diamond Syndrome 1	Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia...	OMIM:260400
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Failure to thrive, Pancytopenia, Leukopenia, Hypocalcemia, Elevated ...	ORPHA:2785
Overlap Myositis	Leukopenia, Thrombocytopenia, Abnormal circulating lipid concentration, Elevated circulating crea...	ORPHA:206572
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Small for gestational age, Failure to thrive, Elevated circulating creatine kina...	OMIM:619055
Pearson Syndrome	Bone marrow hypocellularity, Hypomagnesemia, Pancytopenia, Hypocalcemia, Reticulocytosis, Splenom...	ORPHA:699
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin, Failure to thrive	ORPHA:98791
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Thrombocytopenia, Elevated hepatic iron concentration	OMIM:614946
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia	ORPHA:656
T-Cell Immunodeficiency With Thymic Aplasia	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Hypocalcemic tetany...	ORPHA:83471
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia, Weight loss	ORPHA:143
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia, Conjugated hyperbilirubinemia, Small for gestational age, Failure to thrive	OMIM:208085
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac...	OMIM:601399
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Failure to thrive, Hepatosplenomegaly, Decreas...	OMIM:620376
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Good Syndrome	Anemia, Decreased circulating antibody level, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:169105
Sarcoidosis	Hypercalcemia, Leukopenia, Increased T cell count, Eosinophilia, Weight loss, Thrombocytopenia, A...	ORPHA:797
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	OMIM:177735
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Leukopenia, Pancytopenia, Neutro...	OMIM:613989
Von Hippel-Lindau Syndrome	Polycythemia	OMIM:193300
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level, Failure to thrive	OMIM:614328
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Cachexia, Anemia, Refractory anemia	ORPHA:79076
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Failure to thrive, Hepatosplenomegaly, Leukocytosis, Reticulocyt...	OMIM:618278
Lig4 Syndrome	Failure to thrive, Pancytopenia, Thrombocytopenia, Acute lymphoblastic leukemia, Small for gestat...	OMIM:606593
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra...	ORPHA:99826
Ogden Syndrome	Thrombocytopenia, Hyperbilirubinemia, Polycythemia, Iron deficiency anemia	OMIM:300855
Ppoma	Weight loss, Hypercalcemia	ORPHA:97278
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	ORPHA:556037
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Small for gestational age, Thrombocytopenia, Elevated circulating creatine kinase con...	OMIM:301056
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased ci...	OMIM:620040
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Failure to thrive, Slender build, Pancytopenia, Hypocalcemia, Anemia, Unconjugat...	OMIM:613658
Letterer-Siwe Disease	Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia	OMIM:246400
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu...	ORPHA:447
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia	ORPHA:85212
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia...	OMIM:208900
Von Willebrand Disease, Type 3	Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level, T lymphocy...	OMIM:242860
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Hyperalaninemia, Failure to thrive	OMIM:618329
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Decreased circulat...	ORPHA:275
Von Willebrand Disease	Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:903
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Timothy Syndrome	Hypocalcemia	OMIM:601005
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level, Obesity	ORPHA:3409
Immunodeficiency 40	T lymphocytopenia, Reduced antigen-specific T cell proliferation, Thrombocytopenia	OMIM:616433
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Increased mean corpuscular volum...	OMIM:617052
Xfe Progeroid Syndrome	Hypoalbuminemia, Cachexia, Failure to thrive	OMIM:610965
Zollinger-Ellison Syndrome	Weight loss, Hypercalcemia	ORPHA:913
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Hypertyrosinemia, Con...	OMIM:617156
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Grfoma	Weight loss, Hypercalcemia	ORPHA:97261
Beckwith-Wiedemann Syndrome	Polycythemia, Obesity, Large for gestational age, Splenomegaly, Elevated circulating alpha-fetopr...	ORPHA:116
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Splenomegaly, Increased circulating Ig...	ORPHA:186
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta...	OMIM:600901
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:230800
Infection-Related Hemolytic Uremic Syndrome	Abnormal circulating chemokine concentration, Leukocytosis, Hypocalcemia, Hyponatremia, Thrombocy...	ORPHA:544482
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Aspergillosis	Increased circulating IgE level, Eosinophilia, Neutropenia	ORPHA:1163
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia	OMIM:253270
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Increased circ...	OMIM:277900
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Hypercalcemia	ORPHA:99880
Shigellosis	Microangiopathic hemolytic anemia, Failure to thrive in infancy, Leukocytosis, Hyponatremia, Sple...	ORPHA:810
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Thrombocytopenia, Increased circulating antibody level	ORPHA:319218
Cartilage-Hair Hypoplasia	Failure to thrive, Hypocalcemia, Neutropenia, Anemia, Decreased circulating antibody level	ORPHA:175
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Small for gesta...	OMIM:227650
Immunodeficiency 87 And Autoimmunity	Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po...	OMIM:619573
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia	OMIM:222300
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia	OMIM:620367
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:93160
Mogs-Cdg	Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Thrombocyto...	ORPHA:79330
Double Outlet Right Ventricle	Hypocalcemia, Failure to thrive	ORPHA:3426
Juvenile Nephropathic Cystinosis	Hypouricemia, Failure to thrive, Elevated circulating creatinine concentration, Hypocalcemic teta...	ORPHA:411634
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen...	OMIM:227645
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N...	OMIM:214500
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia	ORPHA:163979
Bloom Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM...	OMIM:210900
Xq28 (MECP2) duplication	Decreased circulating IgA level, Failure to thrive	DECIPHER:45
Pseudo-Torch Syndrome 1	Splenomegaly, Failure to thrive, Thrombocytopenia	OMIM:251290
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutro...	OMIM:613990
Brucellosis	Failure to thrive, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Anemia, Weight loss, Th...	ORPHA:1304
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Reduced natural killer cell ...	OMIM:608233
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Igg4-Related Kidney Disease	Decreased retinol-binding protein level, Increased circulating IgE level, Elevated circulating cr...	ORPHA:449395
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Increased circulating a...	OMIM:615846
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or...	OMIM:300755
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,...	ORPHA:79277
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Failure to thrive, Leukopenia, Thrombocytopenia, Anemia	OMIM:603467
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Cystathioninemia, Failure to thrive, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia...	OMIM:277400
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop...	ORPHA:466650
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Overweight, Persistence of hemoglobin F	OMIM:619769
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Decreased circulating complement C4 c...	ORPHA:93552
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis	OMIM:617913
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia	ORPHA:31150
Juvenile Polyposis Syndrome	Anemia, Hypoproteinemia, Failure to thrive	ORPHA:2929
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Failure to thrive	OMIM:617729
Mitochondrial Trifunctional Protein Deficiency	Failure to thrive in infancy, Hypocalcemia	ORPHA:746
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:620475
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasi...	OMIM:612541
Von Hippel-Lindau Disease	Polycythemia	ORPHA:892
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Tick-Borne Encephalitis	Leukopenia, Leukocytosis, Abnormal circulating cytokine concentration, Thrombocytopenia, Elevated...	ORPHA:297
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:508533
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Congenital Disorder Of Glycosylation, Type Iig	Failure to thrive in infancy, Anemia, Giant platelets, Thrombocytopenia	OMIM:611209
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Splenomegaly, Thrombocytopenia	ORPHA:169090
Hellp Syndrome	Microangiopathic hemolytic anemia, Hemolytic anemia, Increased body weight, Thrombocytopenia, Dec...	ORPHA:244242
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Reduced circulating complement concentration, Hyperlipidemia	ORPHA:567546
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Failure to thrive, Neutropenia	OMIM:617941
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Calcinosis, Hypocalcemic seizures	ORPHA:79444
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An...	ORPHA:2330
Catastrophic Antiphospholipid Syndrome	Thrombocytopenia, Abnormal circulating cytokine concentration, Coombs-positive hemolytic anemia, ...	ORPHA:464343
Gaucher Disease, Type Ii	Anemia, Splenomegaly, Failure to thrive, Thrombocytopenia	OMIM:230900
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Polycythemia, Impaired platele...	ORPHA:2968
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k...	OMIM:602668
Lipodystrophy, Congenital Generalized, Type 4	Failure to thrive, Decreased circulating IgA level, Splenomegaly, Elevated circulating creatine k...	OMIM:613327
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Obesity, Anemia, Thrombocytopenia	OMIM:620072
Pediatric-Onset Graves Disease	Splenomegaly, Thrombocytopenia, Failure to thrive, Neutropenia in presence of anti-neutropil anti...	ORPHA:525731
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Hypocalcemic tetany, Obesity, Hypocalcemia, Calcinosis, Hypocalcemic seizures,...	ORPHA:79443
Multiple Endocrine Neoplasia Type 1	Weight loss, Hypercalcemia	ORPHA:652
Q Fever	Hepatosplenomegaly, Splenomegaly, Increased circulating antibody level, Weight loss, Thrombocytop...	ORPHA:781
Cyclic Neutropenia	Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Increased circulating IgE level, Eosinophilia	ORPHA:2314
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat...	OMIM:256040
Williams Syndrome	Abnormal circulating lipid concentration, Failure to thrive in infancy, Obesity, Elevated circula...	ORPHA:904
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Obesity, Hyperphosphatemia	OMIM:103580
Igg4-Related Thyroid Disease	Increased circulating IgG4 level, Hypocalcemia	ORPHA:64744
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Primary Sclerosing Cholangitis	Hypoalbuminemia, Hepatosplenomegaly, Splenomegaly, Weight loss, Polyclonal elevation of IgM	ORPHA:171
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Small for gestational age	OMIM:251300
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Failure to thrive, Hyperammonemia, Hypom...	ORPHA:79282
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Lujo Hemorrhagic Fever	Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Elevated circulating C-reactive protein ...	ORPHA:319213
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Splenomegaly, Decreased body weight, Thrombocytopenia, Anemia	OMIM:608013
Kawasaki Disease	Elevated circulating C-reactive protein concentration, Thrombocytosis, Leukocytosis, Hypoalbuminemia	ORPHA:2331
Hennekam Syndrome	Lymphopenia, Decreased circulating antibody level, Hypocalcemia, Splenomegaly	ORPHA:2136
Noonan Syndrome 4	Large for gestational age, Thrombocytopenia	OMIM:610733
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c...	OMIM:105650
Lathosterolosis	Abnormal platelet morphology, Failure to thrive, Thrombocytopenia, Anisopoikilocytosis	ORPHA:46059
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia	ORPHA:93325
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Porphyria, Congenital Erythropoietic	Elevated circulating uroporphyrin concentration, Splenomegaly, Thrombocytopenia, Reduced erythroc...	OMIM:263700
Adams-Oliver Syndrome	Leukopenia, Failure to thrive, Thrombocytopenia	ORPHA:974
Autosomal Recessive Malignant Osteopetrosis	Anemia, Splenomegaly, Hypophosphatemia, Hypocalcemia	ORPHA:667
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia	OMIM:235510
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Increased circulating interleukin 6 concentration, Elevated circulating creati...	ORPHA:340
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Failure to thrive in infancy, Pancytopenia, Decreased circulating IgA level, Hypersplenism, Splen...	OMIM:613385
Gitelman Syndrome	Hypermagnesemia, Failure to thrive, Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency an...	ORPHA:358
Recon Progeroid Syndrome	Anemia, Thrombocytopenia	OMIM:620370
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	ORPHA:221139
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas...	OMIM:620005
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Kikuchi-Fujimoto Disease	Leukopenia, Splenomegaly, Anemia, Weight loss, Lymphocytosis, Neutropenia, Thrombocytopenia, Elev...	ORPHA:50918
Rift Valley Fever	Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia	ORPHA:319251
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449432
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Failure to th...	OMIM:248250
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen...	OMIM:227646
21Q22.11Q22.12 Microdeletion Syndrome	Failure to thrive in infancy, Anemia, Thrombocytopenia	ORPHA:261323
Farber Disease	Anemia, Hepatosplenomegaly, Failure to thrive, Thrombocytopenia	ORPHA:333
Multiple Mitochondrial Dysfunctions Syndrome 7	Thrombocytopenia, Hyperglycinemia, Hypernatremia	OMIM:620423
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia	ORPHA:77261
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Lymphopenia, Obesity, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia	OMIM:620654
Velocardiofacial Syndrome	Hypocalcemia, Impaired T cell function	OMIM:192430
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Abnormality of T cell physiology, Hypocalcemia	ORPHA:2237
Gaucher Disease	Splenic infarction, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Splen...	ORPHA:355
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula...	ORPHA:99829
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight	OMIM:619005
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Failure to thrive, Impaired T cell function, Obesity, Hypocalcemia, ...	ORPHA:567
Stevens-Johnson Syndrome	Anemia, Abnormality of neutrophils, Weight loss, Thrombocytopenia	ORPHA:36426
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Leukopenia, Leukocytosis, Thrombocytopenia, Conjugated hyperbi...	ORPHA:480520
Riddle Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Weight loss, Decreased circulat...	ORPHA:420741
Aicardi-Goutieres Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:225750
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thrombocytopenia, Anemia	ORPHA:464329
Toxic Epidermal Necrolysis	Anemia, Thrombocytopenia, Weight loss, Neutropenia	ORPHA:537
Williams-Beuren Syndrome	Failure to thrive in infancy, Obesity, Hypercalcemia	OMIM:194050
Telangiectasia, Hereditary Hemorrhagic, Type 2	Anemia, Polycythemia	OMIM:600376
Digeorge Syndrome	Impaired T cell function, Obesity, Splenomegaly, Hypocalcemia, Hypoplasia of the thymus, Thromboc...	OMIM:188400
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
Primary Sjögren Syndrome	Normocytic anemia, Lymphopenia, Leukopenia, Reduced circulating complement concentration, Decreas...	ORPHA:289390
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Igg4-Related Ophthalmic Disease	Elevated circulating C-reactive protein concentration, Increased circulating IgE level, Eosinophi...	ORPHA:449563
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia, Thrombocytopenia	ORPHA:464321
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Thrombocytopenia, B lymphocytopenia, T lymphoc...	OMIM:251260
Selective Igm Deficiency	Decreased proportion of transitional B cells, Decreased proportion of CD8-positive T cells, Parap...	ORPHA:331235
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:612199
Idiopathic Hypereosinophilic Syndrome	Failure to thrive, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, ...	ORPHA:3260
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Weight loss, Increased circulating IgA level, Thrombocytopenia,...	ORPHA:79078
Bloom Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	ORPHA:125
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Bcard Syndrome	Thrombocytopenia	OMIM:612394
Systemic Lupus Erythematosus	Leukopenia, Decreased circulating complement C4 concentration, Weight loss, Thrombocytopenia, Dec...	ORPHA:536
Sotos Syndrome	Acute lymphoblastic leukemia, Hypercalcemia	ORPHA:821
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hypersplenism,...	ORPHA:77293
Congenital Syphilis	Anemia, Hepatosplenomegaly, Thrombocytopenia, Extramedullary hematopoiesis	ORPHA:499009
Telangiectasia, Hereditary Hemorrhagic, Type 1	Anemia, Polycythemia	OMIM:187300
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Abnormal circulating interferon-gam...	ORPHA:391487
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Nijmegen Breakage Syndrome	Acute leukemia, Autoimmune hemolytic anemia, Cachexia, Thrombocytopenia, Hemolytic anemia	ORPHA:647
Atelis Syndrome 2	Anemia, Thrombocytopenia	OMIM:620185
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Elevated circulating 7-dehydrocholestero...	OMIM:270400
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Large for gestational age, Decreased circulating IgA level	ORPHA:457485
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concen...	ORPHA:99827
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Splenomegaly, Eosinophilia, Cachexia, Increased circulating interleukin 6 concen...	ORPHA:75565
Dyskeratosis Congenita	Bone marrow hypocellularity, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:1775
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight	OMIM:619004
Oculocerebrorenal Syndrome Of Lowe	Failure to thrive, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonem...	ORPHA:534
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Dubowitz Syndrome	Anemia, Abnormality of neutrophils, Acute lymphoblastic leukemia, Thrombocytopenia	ORPHA:235
Dubowitz Syndrome	Decreased circulating IgG level, Aplastic anemia, Hypocholesterolemia, Decreased circulating IgA ...	OMIM:223370
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Thrombocytopenia, Splenomegaly, Truncal obesity	OMIM:301072
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Decreased circulating a...	OMIM:274000
Jacobsen Syndrome	Failure to thrive, Thrombocytopenia	OMIM:147791
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Failure to thrive, Hypomagnesemia, Hepatosplenomegaly, Hypocalcemia, Hemolytic anemia	OMIM:619503
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Cachexia, Thrombocytop...	ORPHA:2072
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:305000
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Autosomal Recessive Polycystic Kidney Disease	Hypersplenism, Hepatosplenomegaly, Splenomegaly, Increased serum bile acid concentration, Hyponat...	ORPHA:731
Hardikar Syndrome	Failure to thrive, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Splenomegaly, Thrombocy...	OMIM:301068
Congenital Disorder Of Glycosylation, Type Iiw	Failure to thrive, Microcytic anemia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:619525
Fanconi Anemia	Leukopenia, Weight loss, Thrombocytopenia, Anemia, Pyridoxine-responsive sideroblastic anemia	ORPHA:84
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Elevated circul...	OMIM:619534
Monosomy 18Q	Slender build, Decreased circulating IgA level, Failure to thrive	ORPHA:1600
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Trichinellosis	Increased circulating IgE level	ORPHA:863
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level, Splenomegaly, Polysplenia	ORPHA:373
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Jacobsen Syndrome	Bone marrow hypocellularity, Thrombocytopenia	ORPHA:2308
Acute Liver Failure	Hyperammonemia, Thrombocytopenia	ORPHA:90062
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased circulating total IgM, Decreased specific pneumococcal antibody level, Decreased circul...	ORPHA:183675
Johanson-Blizzard Syndrome	Failure to thrive, Hypocalcemia, Splenomegaly, Increased VLDL cholesterol concentration, Conjugat...	OMIM:243800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia	OMIM:620330
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Viss Syndrome	Failure to thrive, Increased circulating IgE level, Decreased circulating IgA level, Hypereosinop...	OMIM:619472
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia, Increased c...	ORPHA:51
Charge Syndrome	Lymphopenia, Hypocalcemia	OMIM:214800
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:147060
Osteogenesis Imperfecta	Small for gestational age, Thrombocytopenia	ORPHA:666
Alkaptonuria	Methemoglobinemia, Hemolytic anemia	ORPHA:56
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Failure to thrive, Decreased circulating total IgM, B lymphocytopenia	ORPHA:83617
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Pmm2-Cdg	Hypoalbuminemia, Impaired neutrophil chemotaxis, Failure to thrive, Reduced thyroxin-binding glob...	ORPHA:79318
Noonan Syndrome 1	Failure to thrive in infancy, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia	OMIM:163950

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Zfp760

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zfp760.

No publications found that use IMPC mice or data for Zfp760.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Zfp760^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Zfp760^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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