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Gene: Stx11 MGI:1921982

Gene Summary

Name:

syntaxin 11

Synonyms:

5830405C08Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased lymphocyte cell number	Stx11^em1(IMPC)Mbp	HOM	Early adult	5.28×10^-07
abnormal heart morphology	Stx11^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged heart	Stx11^em1(IMPC)Mbp	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Stx11^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Stx11^em1(IMPC)Mbp	HOM	Early adult	0.00
increased blood urea nitrogen level	Stx11^em1(IMPC)Mbp	HOM	Early adult	5.57×10^-08
small kidney	Stx11^em1(IMPC)Mbp	HOM	Early adult	0.00
increased heart weight	Stx11^em1(IMPC)Mbp	HOM	Early adult	1.18×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Stx11 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 Stx11 (2 diseases)
Human diseases predicted to be associated with Stx11 (1244 diseases)

The table below shows human diseases associated to Stx11 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hemophagocytic Lymphohistiocytosis, Familial, 4		Fever, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple...	OMIM:603552
Familial Hemophagocytic Lymphohistiocytosis		Fever, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Reduced natural k...	ORPHA:540

The table below shows human diseases predicted to be associated to Stx11 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c...	OMIM:308240
Immunodeficiency 69	Fever, Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, BC...	OMIM:618963
Autoinflammation With Infantile Enterocolitis	Fever, Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Re...	OMIM:616050
Lymphoproliferative Syndrome, X-Linked, 2	Fever, Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Inc...	OMIM:300635
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib...	OMIM:300988
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Megaloblastic bone marrow, Decreased circulating antibody level, Decre...	ORPHA:859
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S...	OMIM:620282
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection...	ORPHA:572
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Fever, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Thromboc...	OMIM:613101
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp...	OMIM:614470
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections...	OMIM:615897
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Hemophagocytic Lymphohistiocytosis, Familial, 3	Fever, Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagoc...	OMIM:608898
Immunodeficiency 105	Fever, Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Lymphopenia, Dec...	OMIM:619924
Immunodeficiency 46	Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps...	OMIM:616740
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I...	OMIM:615285
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T...	OMIM:619824
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Weight loss, Leukop...	ORPHA:507
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Abnormal number of granulocyte precursors, Neutropenia, Erythroid hyperplasia,...	ORPHA:75564
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent respiratory infections, Bone marrow maturation arrest, Recurrent bacterial infections, ...	OMIM:616022
Immunodeficiency 18	Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu...	OMIM:615615
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Adult Idiopathic Neutropenia	Fever, Granulocytic hypoplasia, Bone marrow hypercellularity, Helicobacter pylori infection, Abno...	ORPHA:2688
Lymphoproliferative Syndrome 2	Fever, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent ...	OMIM:615122
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent...	OMIM:617780
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Whim Syndrome 1	Bone marrow hypercellularity, Myelokathexis, Recurrent upper respiratory tract infections, Decrea...	OMIM:193670
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Immunodeficiency 32B	Fever, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomega...	OMIM:226990
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter...	OMIM:202700
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ...	OMIM:615214
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Reduced natural ki...	OMIM:300400
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Recurrent respir...	OMIM:618986
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Hemophagocytic Lymphohistiocytosis, Familial, 4	Fever, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple...	OMIM:603552
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Fever, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactiv...	ORPHA:158057
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Ethanolaminosis	Cardiomegaly	OMIM:227150
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Anemia, Increased mean corpuscular...	OMIM:619041
Acute Erythroid Leukemia	Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocel...	ORPHA:318
Amegakaryocytic Thrombocytopenia, Congenital, 1	Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Hemophagocytic Syndrome Associated With An Infection	Opportunistic bacterial infection, Neutropenia, Abnormal cytokine signaling, Severe cytomegalovir...	ORPHA:158048
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ...	OMIM:619281
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Re...	OMIM:615559
Immunodeficiency 20	Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se...	OMIM:615707
Whim Syndrome 2	Myelokathexis, Severe infection, Recurrent gingivitis, Chronic neutropenia	OMIM:619407
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Recurrent infections, Bone marrow maturation arrest, Neutropenia	OMIM:617014
Immunodeficiency 60 And Autoimmunity	Fever, Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating tota...	OMIM:618394
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Reticulocytopenia, Mega...	OMIM:275350
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Fever, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activity, In...	OMIM:603553
Aregenerative Anemia	Fever, Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reticulocytopeni...	ORPHA:101096
Diamond-Blackfan Anemia 18	Granulocytic hypoplasia, Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg...	OMIM:619220
Reticular Dysgenesis	Fever, Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulatin...	ORPHA:33355
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi...	OMIM:300853
Combined Oxidative Phosphorylation Deficiency 34	Fever, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen...	OMIM:617872
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop...	ORPHA:169079
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Maternal Uniparental Disomy Of Chromosome 1	Pancytopenia, Failure to thrive, Panhypogammaglobulinemia, Recurrent infections	ORPHA:251009
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu...	OMIM:301082
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl...	OMIM:604416
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,...	ORPHA:90045
Cyclic Neutropenia	Fever, Cyclic neutropenia	OMIM:162800
Bare Lymphocyte Syndrome, Type Ii	Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R...	OMIM:209920
Malaria	Fever, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Thrombo...	ORPHA:673
Isovaleric Acidemia	Pancytopenia, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocytopenia	OMIM:243500
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho...	ORPHA:79124
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Congenital Enterovirus Infection	Fever, Abnormal macrophage morphology, Hypothermia, Thrombocytopenia, Leukocytosis, Sepsis, Hyper...	ORPHA:292
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Depression, Neutropenia, Anemia	OMIM:602079
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Decreased proportion of CD3-positive T cells, ...	ORPHA:331206
Fanconi Anemia, Complementation Group V	Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari...	OMIM:617243
Immunodeficiency 21	Megakaryocyte nucleus hypolobulation, Aplastic anemia, Recurrent viral infections, B lymphocytope...	OMIM:614172
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Thrombocytopenia 2	Increased megakaryocyte colony forming unit count, Leukocytosis, Thrombocytopenia	OMIM:188000
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Mu-Heavy Chain Disease	Fever, Abnormal B cell count, Splenomegaly, Weight loss, Increased circulating antibody level, Ab...	ORPHA:100024
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Fever, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenome...	OMIM:618398
Immunodeficiency 27A	Fever, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Increased circulating IgG lev...	OMIM:209950
Autoinflammatory-Pancytopenia Syndrome	Fever, Pancytopenia, Hepatosplenomegaly, Granuloma, Hemophagocytosis, Severe Epstein Barr virus i...	OMIM:619858
Proteasome-Associated Autoinflammatory Syndrome 2	Fever, Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased ...	OMIM:618048
Primary Myelofibrosis	Fever, Bone marrow hypercellularity, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thromb...	ORPHA:824
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneu...	OMIM:301078
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Failure to thrive, C...	OMIM:614700
X-Linked Agammaglobulinemia	Fever, Recurrent cutaneous abscess formation, Thrombocytopenia, Recurrent pneumonia, Sepsis, Weig...	ORPHA:47
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Failure to...	OMIM:229050
Familial Hemophagocytic Lymphohistiocytosis	Fever, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Reduced natural k...	ORPHA:540
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Lethargy, Failure to thrive, Hyperammonemia	ORPHA:28
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Sepsis, Hyperammonemia, Neutropenia, Lethargy, Anemia	ORPHA:289916
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope...	OMIM:251110
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Primary Erythromelalgia	Recurrent respiratory infections, Leukemia, Abnormality of thrombocytes, Hypothermia	ORPHA:90026
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Lethargy, Failure to thrive, Anemia	ORPHA:79312
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Propionic Acidemia	Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutropenia, Lethargy, Failure t...	OMIM:606054
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Increased circulating IgE level, Inappropriate...	OMIM:618944
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Elevated circulating creatine kinase concentration, Impaired T cell function, Splen...	OMIM:614576
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy, Hypothermia	OMIM:615026
Griscelli Syndrome Type 2	Fever, Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia	ORPHA:79477
Purine Nucleoside Phosphorylase Deficiency	Failure to thrive, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia,...	OMIM:613179
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Depression, Decreased body weight, Thrombocytopenia	OMIM:231000
Bone Marrow Failure Syndrome 1	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity	OMIM:614675
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Neutropenia	ORPHA:90023
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia...	OMIM:267500
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut...	OMIM:607594
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Pancytopenia, Small for gestational age, Megaloblastic anemia, Thrombocyt...	OMIM:277380
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Fever, Acute myeloid leukemia, Anemia of inadequate p...	ORPHA:86839
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir...	OMIM:614857
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Macrophage Activation Syndrome	Fever, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated circulat...	ORPHA:158061
Mantle Cell Lymphoma	Fever, Splenomegaly, Weight loss, Abnormal bone marrow cell morphology	ORPHA:52416
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Persistent CMV viremia, Autoimmu...	OMIM:617514
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Decreased circulating antibody level, Anemia, Leukopenia, Bone ...	OMIM:618116
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect...	OMIM:614868
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Recurrent infections, Anemia, Bone marrow hypocellularity, Neutr...	ORPHA:88
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Megaloblastic bone marrow, Hyperhomocystinemi...	ORPHA:2169
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	OMIM:604250
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase...	OMIM:613845
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Autosomal Dominant Severe Congenital Neutropenia	Fever, Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia,...	ORPHA:486
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Recurrent respiratory infections, Hypertriglyceridemia, ...	OMIM:607616
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ...	ORPHA:86843
Schimke Immunoosseous Dysplasia	Fever, Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Thrombocytopenia, ...	OMIM:242900
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease...	OMIM:601495
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Normo...	OMIM:618775
Acute Promyelocytic Leukemia	Fever, Bone marrow hypercellularity, Pancytopenia, Chronic infection, Thrombocytopenia, Leukocyto...	ORPHA:520
Central Diabetes Insipidus	Hyponatremia, Fever, Weight loss, Depression, Lethargy, Failure to thrive	ORPHA:178029
Specific Granule Deficiency 2	Absent neutrophil specific granules, Bone marrow maturation arrest, Recurrent pneumonia, Sepsis, ...	OMIM:617475
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc...	ORPHA:98850
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Megaloblastic anemia, Hyperhomocyst...	OMIM:236270
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Failure to thrive, Recurrent opportunistic infections, Increased circulating IgE level, Recurrent...	ORPHA:277
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Recur...	OMIM:619752
Autosomal Agammaglobulinemia	Fever, Recurrent respiratory infections, Sepsis, Recurrent infections, Agammaglobulinemia, Neutro...	ORPHA:33110
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia	OMIM:614743
Immunodeficiency 91 And Hyperinflammation	Megakaryocytopenia, Neutrophilia, Elevated circulating C-reactive protein concentration, Thromboc...	OMIM:619644
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope...	OMIM:251100
Congenital Disorder Of Glycosylation, Type Iik	Failure to thrive, Elevated circulating creatine kinase concentration, Thrombocytopenia, Unexplai...	OMIM:614727
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Pulmonary Blastoma	Fever, Recurrent pneumonia, Weight loss	ORPHA:64741
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Failure to thrive, Megaloblastic bone marrow	ORPHA:79283
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer...	ORPHA:167
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o...	OMIM:618459
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Recurrent viral infections, Sepsis, Le...	ORPHA:811
Griscelli Syndrome, Type 2	Fever, Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocytosis, Reduced delayed hype...	OMIM:607624
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Lethargy, Anemia	ORPHA:27
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Immunodeficiency 11A	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C...	OMIM:615206
Idiopathic Achalasia	Decreased prealbumin level, Weight loss	ORPHA:930
Dengue Fever	Fever, Leukopenia, Lethargy, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:601859
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk...	ORPHA:443811
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Failure to thrive, Megaloblastic bone marrow	ORPHA:622
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Decreased c...	OMIM:616576
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Ebola Hemorrhagic Fever	Fever, Sepsis, Leukopenia, Increased circulating antibody level, Lethargy, Lymphopenia, Thrombocy...	ORPHA:319218
Immunodeficiency 22	Fever, Failure to thrive, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections...	OMIM:615758
Idiopathic Congenital Hypothyroidism	Lethargy, Neonatal hyperbilirubinemia, Hypothermia	ORPHA:95717
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Lethargy, Failu...	OMIM:251000
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Severe infection, Increased circulating IgE level, Ane...	OMIM:304790
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Chloramphenicol Toxicity	Aplastic anemia	OMIM:515000
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Meningococcal Meningitis	Fever, Hypothermia, Elevated circulating C-reactive protein concentration, Sepsis, Lethargy, Infe...	ORPHA:33475
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Recurrent infections, Hyperuricemia, Neutropenia, ...	OMIM:617056
Thymoma	Fever, Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Abnormal lympho...	ORPHA:99867
Necrotizing Enterocolitis	Hyponatremia, Neonatal sepsis, Small for gestational age, Leukocytosis, Neutropenia, Lethargy, Te...	ORPHA:391673
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Aicardi-Goutieres Syndrome 4	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610333
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Pancytopenia	OMIM:600546
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Fever, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocy...	OMIM:615688
Staphylococcal Necrotizing Pneumonia	Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Severe ...	ORPHA:36238
Methylmalonic Acidemia With Homocystinuria	Lethargy, Failure to thrive, Megaloblastic bone marrow	ORPHA:26
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B cells, Failure to thrive...	OMIM:619693
Fanconi-Like Syndrome	Recurrent lower respiratory tract infections, Pancytopenia	OMIM:227850
Eosinophilia, Familial	Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia	OMIM:131400
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Immunodeficiency 67	Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Hemochromatosis, Type 2A	Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, Lethargy	OMIM:602390
Felty Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Recurrent pha...	ORPHA:47612
3-Hydroxy-3-Methylglutaric Aciduria	Fever, Hypothermia, Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, Lethargy, Hyperuricemi...	ORPHA:20
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Recurrent opportunistic infections, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Failure to thrive, Abscess, Eosinophilia, Rec...	OMIM:615816
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Fever, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concen...	ORPHA:54251
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve...	OMIM:300755
Familial Thyroid Dyshormonogenesis	Lethargy, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia	ORPHA:95716
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni...	OMIM:557000
N-Acetylglutamate Synthase Deficiency	Lethargy, Failure to thrive, Hyperglutamatemia, Hyperammonemia	OMIM:237310
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Bone marrow hypercellularity, Macrocytic anemia, Megakaryocyte nucleus hy...	ORPHA:86841
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Lethargy, Hyperammonemia, Weight loss	ORPHA:79242
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Myeloid leukemia, Anemia	OMIM:614742
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome...	OMIM:615387
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Failure to t...	OMIM:613989
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Lethargy, Failure to thrive	ORPHA:26792
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio, Bone marrow ...	OMIM:300299
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Glutaric Acidemia Type 3	Elevated circulating glutaric acid concentration, Failure to thrive, Lethargy, Abnormality of cir...	ORPHA:35706
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia	OMIM:614038
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypothermia, Splenomegaly, Hypoalbuminemia,...	OMIM:251880
Glycine Encephalopathy 1	Lethargy, Hyperglycinemia	OMIM:605899
Sepsis In Premature Infants	Fever, Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral inf...	ORPHA:90051
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Primary Intestinal Lymphangiectasia	Lymphopenia, Cryptococcal meningitis, Decreased circulating antibody level, Weight loss, Decrease...	ORPHA:90362
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Anemia, Abnormal circulating creatine kinase co...	OMIM:615838
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating creatine kinase concentration, Hyperamylasemia, Hyperglycinemia, Hyperalanin...	OMIM:619386
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Abnormal granulocytopoietic cell morphology, Elliptocytosis, Bon...	OMIM:300835
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Aplastic Anemia	Aplastic anemia, Bone marrow hypocellularity	OMIM:609135
Deafness-Lymphedema-Leukemia Syndrome	Fever, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, A...	ORPHA:3226
Isolated Agammaglobulinemia	Fever, Recurrent cutaneous abscess formation, Recurrent respiratory infections, Failure to thrive...	ORPHA:229717
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:603909
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c...	OMIM:617241
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612924
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Idiopathic Chronic Eosinophilic Pneumonia	Fever, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating...	ORPHA:2902
Preeclampsia	Helicobacter pylori infection, Increased body mass index, Small for gestational age, Elevated cir...	ORPHA:275555
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Failure to thrive, Hyperglycinemia, Hypothermia, Hypertaurinemia	OMIM:245400
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote...	OMIM:603585
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Incre...	ORPHA:26793
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody lev...	ORPHA:77259
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu...	OMIM:618849
Babesiosis	Fever, Hemolytic anemia, Splenomegaly, Recurrent pharyngitis, Depression, Recurrent infections, L...	ORPHA:108
Immunodeficiency, Common Variable, 2	Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu...	OMIM:240500
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Failure to thrive, Thrombocytopenia	OMIM:259700
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Megakaryocyte dysplasia, Giant platelets, Macrothrombocytopenia, Neut...	OMIM:155100
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia, Recurrent fever	OMIM:614979
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni...	OMIM:603554
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Hypothermia	OMIM:614654
Igg4-Related Aortitis	Fever, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, I...	ORPHA:449400
Marburg Hemorrhagic Fever	Fever, Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamy...	ORPHA:99826
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Failure to thrive...	OMIM:242840
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Recurrent herpes, Recurrent bronchitis, Recurrent infections, Recurrent fever, Recu...	OMIM:620331
Neonatal Alloimmune Neutropenia	Fever, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Temperatur...	ORPHA:464370
Selective Igm Deficiency	Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro...	ORPHA:331235
Necrobiosis Lipoidica	Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Wolcott-Rallison Syndrome	Hyponatremia, Fever, Hyperammonemia, Recurrent infections, Iron deficiency anemia, Hypoalbuminemi...	ORPHA:1667
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Small for gestational age, Impaired T cell function, Abnormal lymphocyte physi...	ORPHA:1830
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Splenomegaly, Recurrent candida infections, Decreased serum zinc, Letha...	OMIM:201100
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Hypothermia	OMIM:610006
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Hjv Or Hamp-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Lethargy, Abnormal...	ORPHA:79230
Hyperlysinuria With Hyperammonemia	Lethargy, Hyperlysinemia, Hyperammonemia	OMIM:238750
Focal Myositis	Fever, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Recurrent bronchopulmonary infe...	OMIM:617303
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Thrombocytopenia, Severe infection, Recurrent tonsillitis, ...	ORPHA:2686
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, H...	ORPHA:83471
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Systemic Lupus Erythematosus 17	Fever, Autoimmune thrombocytopenia, Thrombocytopenia, Leukopenia, Lymphopenia, Recurrent fever	OMIM:301080
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Forsythe-Wakeling Syndrome	Thrombocytopenia, Decreased body weight	OMIM:613606
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Thrombotic Thrombocytopenic Purpura	Fever, Reticulocytosis, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thrombocyt...	ORPHA:54057
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Granulocytic hyperplasia	OMIM:162830
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Rhabdoid Tumor	Fever, Hypercalcemia, Weight loss, Anemia, Thrombocytopenia	ORPHA:69077
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level	OMIM:617341
Tularemia	Fever, Brain abscess, Thrombocytopenia, Leukocytosis, Increased circulating antibody level, Menin...	ORPHA:3392
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Failure to thrive, Lethargy	OMIM:613561
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration,...	ORPHA:79284
Wiskott-Aldrich Syndrome	Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Ab...	OMIM:301000
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Recurrent infections, Pe...	OMIM:617052
Classic Glucose Transporter Type 1 Deficiency Syndrome	Abnormal erythrocyte morphology, Lethargy	ORPHA:71277
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert...	OMIM:620135
Griscelli Syndrome	Fever, Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia...	ORPHA:381
Bangstad Syndrome	Pancytopenia, Small for gestational age	OMIM:210740
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Small for gestational age, Recurrent infections, Persistenc...	OMIM:260400
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Recurrent infections, Neutropenia, Failure to thrive	OMIM:616395
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent respiratory infections, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cach...	ORPHA:37042
Hyperinsulinism Due To Hnf1A Deficiency	Small for gestational age, Large for gestational age, Decreased circulating free fatty acid level...	ORPHA:324575
Neuroleptic Malignant Syndrome	Hyponatremia, Fever, Elevated circulating creatine kinase concentration, Hypothermia, Leukocytosi...	ORPHA:94093
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Recurrent infections, In...	OMIM:617591
Immunodeficiency 40	Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia...	OMIM:616433
Lig4 Syndrome	Recurrent respiratory infections, Pancytopenia, Small for gestational age, Acute lymphoblastic le...	OMIM:606593
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Carnitine-Acylcarnitine Translocase Deficiency	Hypothermia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulat...	ORPHA:159
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Relapsing Fever	Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leu...	ORPHA:91547
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Recurrent respiratory infections, Pancytopenia, Failure to thrive in infancy, Hypersplenism, Sple...	OMIM:613385
Hyperinsulinism Due To Ucp2 Deficiency	Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep...	ORPHA:276556
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:618120
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Dihydropyrimidinase Deficiency	Elevated circulating uracil concentration, Lethargy, Elevated circulating thymine concentration, ...	OMIM:222748
Hereditary Central Diabetes Insipidus	Fever, Lethargy, Weight loss	ORPHA:30925
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Tuberculosis	Fever, Weight loss	ORPHA:3389
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Weight loss	ORPHA:100083
Developmental And Epileptic Encephalopathy 40	Lethargy, Small for gestational age	OMIM:617065
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Pneumocystosis	Fever, Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Weight loss, Increased circul...	ORPHA:723
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Multicentric Reticulohistiocytosis	Fever, Cachexia, Histiocytosis	ORPHA:139436
Slc35A1-Cdg	Giant platelets, Abnormal megakaryocyte morphology, Neutropenia, Abnormal platelet granules, Thro...	ORPHA:238459
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Elevated circulating creatine kinase concentration, Anemia	OMIM:607426
Aicardi-Goutieres Syndrome 7	Fever, Hemolytic anemia, Pancytopenia, Increased circulating ferritin concentration, Thrombocytop...	OMIM:615846
Menkes Disease	Decreased circulating ceruloplasmin concentration, Hypothermia	OMIM:309400
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natura...	OMIM:608233
Early Myoclonic Encephalopathy	Lethargy, Recurrent respiratory infections	ORPHA:1935
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep...	ORPHA:276575
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Bone marrow hypocellularity, Thrombocytopenia, Hepa...	ORPHA:210136
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure to thrive, T...	OMIM:614520
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Failure to thrive	OMIM:274270
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration...	OMIM:617099
Cryptogenic Organizing Pneumonia	Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight ...	ORPHA:1302
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Alpha-Mannosidosis, Adult Form	Pancytopenia, Depression, Recurrent infections, Hepatosplenomegaly, Recurrent gastroenteritis	ORPHA:309288
Evans Syndrome	Lethargy, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Auto...	ORPHA:1959
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure to thrive, Throm...	OMIM:619151
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Transaldolase Deficiency	Pancytopenia, Small for gestational age, Splenomegaly, Hepatosplenomegaly, Anemia, Failure to thr...	OMIM:606003
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re...	ORPHA:436159
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypothermia, Megaloblastic anemia, Hyperammonemia, Ele...	ORPHA:79282
Dyskeratosis Congenita, Autosomal Dominant 6	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity	OMIM:616553
Fetal Gaucher Disease	Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia	ORPHA:85212
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Hyperammonemia, Hyperisoleucinemia,...	ORPHA:2394
Hypercalcemia, Infantile, 1	Lethargy, Failure to thrive, Hypercalcemia, Weight loss	OMIM:143880
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy, Herpes simplex encephalitis, Meningitis	OMIM:617900
Insulin Autoimmune Syndrome	Increased circulating antibody level, Weight loss	ORPHA:411593
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Hyperalaninemia, Small for gestational age, Lethargy	OMIM:312170
Aspergillosis	Fever, Eosinophilia, Increased circulating IgE level, Unusual CNS infection, Invasive pulmonary a...	ORPHA:1163
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Lethargy	OMIM:246900
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Cachexia, Hyperammonemia, Decreased plasma to...	ORPHA:42
Atelis Syndrome 1	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent infections, Anemia, Leukope...	OMIM:620184
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hyperalaninemia, Lethargy, Failure to thrive in infancy, Hyperprolinemia	OMIM:619064
Genetic Transient Congenital Hypothyroidism	Lethargy, Increased circulating thyroglobulin level, Hypothermia	ORPHA:226316
Boutonneuse Fever	Fever, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Thrombocytop...	ORPHA:83313
Lysinuric Protein Intolerance	Bone marrow hypercellularity, Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Abno...	ORPHA:470
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Lethargy, Large for gestational age, Increased C-peptide level	ORPHA:276580
Timothy Syndrome	Hypocalcemia, Hypothermia, Recurrent infections	OMIM:601005
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy, Recurrent fever, Hyperphenylalaninemia	OMIM:233910
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Elevated circulat...	OMIM:610377
Dystonia 31	Abnormal posturing, Depression	OMIM:619565
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613990
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Fever, Splenomegaly, Weight loss, Abnormal bone marrow cell morphology	ORPHA:86893
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Beta-Thalassemia	Abnormality of temperature regulation, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, ...	ORPHA:848
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:600649
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy, Herpes simplex encephalitis, Meningitis	OMIM:613002
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Hypothermia, Depression, Hypercholesterolemia, Abnormal circulating thyroglobu...	ORPHA:90674
Poikiloderma With Neutropenia	Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent bronchopulmonary infe...	OMIM:604173
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Se...	ORPHA:199299
Cog4-Cdg	Neonatal sepsis, Failure to thrive in infancy, Recurrent upper respiratory tract infections, Hepa...	ORPHA:263501
Febrile Infection-Related Epilepsy Syndrome	Fever, Lethargy	ORPHA:163703
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Lethargy	OMIM:618225
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ...	OMIM:227645
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi...	OMIM:214500
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure to thrive...	OMIM:237300
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ...	OMIM:269920
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:600901
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc...	OMIM:613470
Carnitine Deficiency, Systemic Primary	Lethargy, Failure to thrive, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:212140
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec...	OMIM:615952
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Indolent Systemic Mastocytosis	Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology	ORPHA:98848
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hyperammonemia, Neutropenia	OMIM:618253
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Schistocytosis, Elevated circulating cre...	OMIM:274150
Whim Syndrome	Bone marrow hypercellularity, Myelokathexis, Recurrent upper respiratory tract infections, Recurr...	ORPHA:51636
Prolidase Deficiency	Splenomegaly, Recurrent pneumonia, Recurrent infections, Anemia, Increased circulating antibody l...	OMIM:170100
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Dyskeratosis Congenita, Autosomal Recessive 3	Pancytopenia, Bone marrow hypocellularity	OMIM:613988
Attrv30M Amyloidosis	Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb...	OMIM:227650
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia	ORPHA:90673
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Diffuse Alveolar Hemorrhage	Fever, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thromboc...	ORPHA:90060
Avian Influenza	Fever, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protei...	ORPHA:454836
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr...	OMIM:259720
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia, Failure to thrive, Leth...	ORPHA:927
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Fever, Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Eleva...	OMIM:301074
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser...	ORPHA:101028
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Livedoid Vasculopathy	Pancytopenia, Leukocytosis, Hyperhomocystinemia, Abnormal circulating lipid concentration, Polycy...	ORPHA:542643
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly	OMIM:619170
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Gaucher Disease Type 3	Recurrent respiratory infections, Pancytopenia, Splenomegaly, Anemia, Increased circulating antib...	ORPHA:77261
Congenital Disorder Of Glycosylation, Type Ig	Failure to thrive, Small for gestational age, Recurrent upper respiratory tract infections, Recur...	OMIM:607143
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Failure to...	OMIM:612541
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Recurrent fever, Congenital thrombocy...	OMIM:618886
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary ...	OMIM:242700
Systemic Mastocytosis With Associated Hematologic Neoplasm	Fever, Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Bone marrow hypercellularity, Eos...	ORPHA:98849
Citrullinemia Type I	Elevated plasma citrulline, Lethargy, Failure to thrive, Hyperammonemia	ORPHA:247525
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Megakaryocyte dysplasia, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulo...	ORPHA:508542
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Chronic Myeloid Leukemia	Fever, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, ...	ORPHA:521
Adult-Onset Still Disease	Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocy...	ORPHA:829
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy	OMIM:618224
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto...	ORPHA:2785
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Incr...	ORPHA:251004
Zika Virus Disease	Fever, Meningitis, Increased circulating IgM level, Infectious encephalitis, Thrombocytopenia	ORPHA:448237
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Dopamine Beta-Hydroxylase Deficiency	Anemia, Elevated circulating creatinine concentration, Hypothermia, Increased blood urea nitrogen	ORPHA:230
Acute Monoblastic/Monocytic Leukemia	Fever, Bone marrow hypercellularity, Acute monocytic leukemia, Leukocytosis, Weight loss, Abnorma...	ORPHA:514
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Failure to thrive, Hypoalbuminemia, Hypothermia	OMIM:618329
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m...	OMIM:277410
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hyperornithinemia, Lethargy, Failure to thrive, Hyperammonemia	OMIM:238970
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Spontaneous Periodic Hypothermia	Hypothermia	ORPHA:29822
Pearson Syndrome	Reticulocytosis, Pancytopenia, Small for gestational age, Hypomagnesemia, Thrombocytopenia, Splen...	ORPHA:699
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni...	OMIM:277400
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig...	OMIM:619774
Developmental And Epileptic Encephalopathy 78	Hypothermia	OMIM:618557
Inflammatory Pseudotumor Of The Liver	Fever, Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concent...	ORPHA:90003
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Thrombocytopenia, Lymphopenia, Recurrent fever	OMIM:616744
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Carnitine Palmitoyltransferase I Deficiency	Lethargy, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammo...	OMIM:255120
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, De...	OMIM:300972
Vexas Syndrome	Macrocytic anemia, Megakaryocyte dysplasia, Elevated circulating C-reactive protein concentration...	OMIM:301054
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis	OMIM:260570
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Highly elevated creatine kinase, Neutropenia, Elevated circulating creatine kinase concentration,...	OMIM:251900
Combined Oxidative Phosphorylation Deficiency 2	Lethargy, Small for gestational age	OMIM:610498
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Lethargy, Hyperammonemia	OMIM:253270
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Fever, Leukocytosis, Depression, Thrombocytopenia	ORPHA:83601
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level, Lethargy, Failure to thrive, Recur...	ORPHA:427
Immunodeficiency 10	Autoimmune hemolytic anemia, Recurrent infections, Recurrent bacterial infections, Recurrent feve...	OMIM:612783
Huntington Disease-Like 2	Weight loss, Bradykinesia, Depression, Apathy, Inertia	OMIM:606438
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Increased circulating interferon-gamma concentration	OMIM:612952
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Thrombocytopenia	ORPHA:67048
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy	OMIM:618683
Letterer-Siwe Disease	Fever, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Bleeding Disorder, Platelet-Type, 21	Increased mean platelet volume, Recurrent viral infections, Impaired ADP-induced platelet aggrega...	OMIM:617443
Hepatoportal Sclerosis	Hypersplenism, Thrombocytopenia, Splenomegaly, Recurrent infections, Leukopenia, Hypoalbuminemia,...	ORPHA:64743
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Failure to thrive, Elevated circulating C-reactive protein conc...	OMIM:615934
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Hyperlipidemia, Failure to thrive	ORPHA:2089
Severe Canavan Disease	Lethargy	ORPHA:314911
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Pancytopenia, Failure to thrive in infancy, Hypersplenism, Neutropenia in presence of anti-neutro...	ORPHA:228426
Autosomal Recessive Dopa-Responsive Dystonia	Fever, Lethargy, Bradykinesia	ORPHA:101150
Ménétrier Disease	Helicobacter pylori infection, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypop...	ORPHA:2494
Barth Syndrome	Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Failure to thri...	OMIM:302060
Symptomatic Form Of Hfe-Related Hemochromatosis	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Weig...	ORPHA:465508
Acquired Purpura Fulminans	Thrombocytopenia, Sepsis, Elevated circulating C-reactive protein concentration	ORPHA:49566
Pfapa Syndrome	Abnormality of temperature regulation, Splenomegaly, Recurrent pharyngitis, Weight loss, Infectio...	ORPHA:42642
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Typhoid	Fever, Splenomegaly, Infectious encephalitis, Lethargy	ORPHA:99745
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Lig4 Syndrome	Leukocytosis, Abnormal bone marrow cell morphology, Pancytopenia, Acute leukemia	ORPHA:99812
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Head titubation, Lethargy, Failure to thrive	OMIM:250620
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Lethargy, Pancytopenia, Recurrent fever	OMIM:618321
Encephalitis Lethargica	Fever, Lethargy, Increased circulating antibody level, Recurrent viral infections	ORPHA:83600
Classic Galactosemia	Abnormal erythrocyte enzyme level, Lethargy, Sepsis, Depression	ORPHA:79239
Adult Acute Respiratory Distress Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:70578
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari...	OMIM:127550
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Gaucher Disease	Fever, Pancytopenia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Spl...	ORPHA:355
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ...	OMIM:227646
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Abnormal megakaryocyte morp...	ORPHA:67044
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Hyperkalemia, Lethargy, Failure to thrive, Anemia	ORPHA:97362
Gamma-Heavy Chain Disease	Fever, Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia...	ORPHA:100026
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Intermediate Osteopetrosis	Chronic infection, Hepatosplenomegaly, Anemia, Hypocalcemia, Thrombocytopenia	ORPHA:210110
Diamond-Blackfan Anemia 11	Granulocytic hypoplasia, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Pontocerebellar Hypoplasia, Type 6	Lethargy, Failure to thrive	OMIM:611523
Bacterial Toxic-Shock Syndrome	Fever, Recurrent urinary tract infections, Elevated circulating creatine kinase concentration, Ab...	ORPHA:36234
Leukoencephalopathy With Vanishing White Matter 1	Fever, Lethargy	OMIM:603896
Follicular Lymphoma	Fever, Splenomegaly, Meningitis, Weight loss	ORPHA:545
Undifferentiated Pleomorphic Sarcoma	Fever, Weight loss	ORPHA:2023
Combined Immunodeficiency Due To Crac Channel Dysfunction	Fever, Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infect...	ORPHA:169090
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Failure to thrive	OMIM:618228
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Failure to thrive, Thromb...	OMIM:608104
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Small for gestational age, Hyperammonemia, Recurrent infections, Neutropenia, Hyperalaninemia, Fa...	OMIM:615471
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:614702
Amoebiasis Due To Entamoeba Histolytica	Fever, Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia	ORPHA:67
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thr...	ORPHA:3240
Immunodeficiency 31C	Fever, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, R...	OMIM:614162
Lethal Infantile Mitochondrial Myopathy	Lethargy	ORPHA:254857
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Hypothermia	OMIM:614498
Acute Lung Injury	Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali...	ORPHA:178320
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypothermia	OMIM:616501
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:619051
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Fever, Abnormality of temperature regulation, Hypothermia, Recurrent pneumonia, Obesity	OMIM:618493
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Hypothermia, Large for gestational age	ORPHA:226313
Sarcoidosis, Susceptibility To, 1	Fever, Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Weight loss, Increased circu...	OMIM:181000
Congenital Toxoplasmosis	Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly	ORPHA:858
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative...	OMIM:618935
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Mitochondrial Complex I Deficiency, Nuclear Type 5	Lethargy, Failure to thrive	OMIM:618226
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr...	ORPHA:49041
Brucellosis	Fever, Liver abscess, Lung abscess, Small for gestational age, Elevated circulating C-reactive pr...	ORPHA:1304
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy...	ORPHA:71212
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Increased body weight	ORPHA:276608
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Fever, Anemia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:324964
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Overlap Myositis	Elevated circulating creatine kinase concentration, Severe infection, Leukopenia, Abnormal circul...	ORPHA:206572
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Thrombocytopenia, Hyperkalemia, Sepsis, Leukope...	OMIM:617053
Cohen Syndrome	Small for gestational age, Leukopenia, Childhood-onset truncal obesity, Neutropenia	OMIM:216550
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ...	OMIM:618213
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:201475
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Decreased mean platel...	OMIM:617718
Scrub Typhus	Fever, Splenomegaly, Lethargy, Meningitis, Infectious encephalitis	ORPHA:83317
Resistance To Thyrotropin-Releasing Hormone Syndrome	Overweight, Lethargy, Abnormal circulating thyroglobulin level, Depression	ORPHA:99832
Huntington Disease-Like 1	Bradykinesia, Abnormal posturing, Weight loss, Depression	ORPHA:157941
Chronic Hiccup	Weight loss, Depression	ORPHA:396
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Low-grade ...	ORPHA:50918
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent infections, Gra...	ORPHA:1855
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Low-grade fever, Weight loss	ORPHA:1164
Crimean-Congo Hemorrhagic Fever	Fever, Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomega...	ORPHA:99827
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ...	ORPHA:85451
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
3-Methylglutaconic Aciduria, Type Viib	Bone marrow maturation arrest, Recurrent pneumonia, Recurrent infections, Leukopenia, Neutropenia...	OMIM:616271
Classic Hodgkin Lymphoma	Fever, Splenomegaly, Bone marrow hypocellularity, Weight loss	ORPHA:391
Cystic Echinococcosis	Invasive parasitic infection, Abscess, Eosinophilia, Unusual infection, Weight loss, Increased ci...	ORPHA:400
Idiopathic Intracranial Hypertension	Lethargy, Obesity, Depression	ORPHA:238624
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia	OMIM:615085
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Recurrent urinary tract infections, Small for gestational age, Hypoalbuminemia, Hyp...	OMIM:613658
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Isolated Atp Synthase Deficiency	Hyperalaninemia, Lethargy, Hyperammonemia	ORPHA:254913
Galactose Epimerase Deficiency	Splenomegaly, Weight loss	ORPHA:79238
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypothermia	ORPHA:168593
Herpes Simplex Virus Encephalitis	Hyponatremia, Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocy...	ORPHA:1930
Infantile Liver Failure Syndrome 2	Lethargy, Hyperammonemia	OMIM:616483
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Lethargy, Acute hyperammonemia, Failure to thrive	OMIM:210200
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Pancytopenia	ORPHA:85321
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Depression, Weight loss, Iron deficiency anemia, Hypocalcemia, Thrombocytosis,...	OMIM:212750
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Polyarteritis Nodosa	Fever, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:767
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat...	OMIM:300280
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Recurrent upper respiratory tract infections, Obesity, Decreased proportion...	ORPHA:66628
Beta-Ketothiolase Deficiency	Fever, Leukocytosis, Hyperammonemia, Weight loss, Apathy, Hyperuricemia, Thrombocytosis	ORPHA:134
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine...	ORPHA:99901
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy, Temperature instability, Abnormal circulating ceruloplasmin concentration, Abnormal cir...	OMIM:620306
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Wiskott-Aldrich Syndrome	Fever, Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Microc...	ORPHA:906
Multiple Mitochondrial Dysfunctions Syndrome 1	Elevated circulating 2-hydroxybutyric acid concentration, Lethargy, Failure to thrive, Hyperglyci...	OMIM:605711
Smith-Kingsmore Syndrome	Large for gestational age, Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Acquired Partial Lipodystrophy	Microscopic hematuria, Proteinuria, Lymphocytosis	ORPHA:79087
Mccune-Albright Syndrome	Pancytopenia, Bone marrow hypocellularity, Hypophosphatemia	ORPHA:562
Carnitine Palmitoyl Transferase 1A Deficiency	Lethargy, Transient hyperlipidemia	ORPHA:156
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia	OMIM:212138
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Majeed Syndrome	Fever, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcyti...	ORPHA:77297
Fanconi Anemia, Complementation Group I	Decreased body weight, Bone marrow hypocellularity, Neutropenia	OMIM:609053
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl...	OMIM:619381
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypercellularity, Increased circulating IgG level, Lymphocytosis, Increased B cell co...	ORPHA:3261
Progressive Nodular Histiocytosis	Fever, Cachexia	ORPHA:158022
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Recurrent upper respiratory tract infections, Obesity, Decreased proportion...	ORPHA:179494
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Psoriasis 14, Pustular	Fever, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:614204
Alg12-Cdg	Hyponatremia, Recurrent respiratory infections, Partial absence of specific antibody response to ...	ORPHA:79324
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Abnormal circulating fatty-acid concentration, Increased body weight, ...	ORPHA:263455
Hypothyroidism, Congenital, Nongoitrous, 2	Lethargy, Increased circulating thyroglobulin level, Hypothermia, Hyperbilirubinemia	OMIM:218700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Fever, Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty ...	OMIM:608836
46,Xy Sex Reversal 4	Ureteropelvic junction obstruction, Elevated circulating creatinine concentration, Hydronephrosis...	OMIM:154230
Shwachman-Diamond Syndrome 2	Normocytic anemia, Recurrent infections, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:617941
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Dubowitz Syndrome	Aplastic anemia, Recurrent infections, Acute lymphoblastic leukemia, Hypocholesterolemia, Decreas...	OMIM:223370
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Recurrent tonsillitis, Hyperkalemia, Weight loss, Inc...	ORPHA:171876
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Increased circulating IgA level, Abnormal circulating fatty-acid conc...	ORPHA:2298
Wilson Disease	Splenomegaly, Increased body weight, Depression, Anemia, Weight loss, Failure to thrive, Thromboc...	ORPHA:905
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Huntington Disease	Depression, Bradykinesia, Weight loss, Abnormal circulating cholesterol concentration, Apathy, De...	ORPHA:399
Sweet Syndrome	Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Leukocyt...	ORPHA:3243
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lethargy, Hyperglycinemia	OMIM:614299
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Fanconi Anemia, Complementation Group P	Pancytopenia, Anemia	OMIM:613951
Postinfectious Vasculitis	Abnormal circulating protein concentration, Fever, Elevated circulating C-reactive protein concen...	ORPHA:48435
Castleman Disease	Myelofibrosis, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive...	ORPHA:160
Maple Syrup Urine Disease	Lethargy, Elevated circulating branched chain amino acid concentration, Elevated circulating L-al...	OMIM:248600
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Developmental Delay, Hypotonia, And Impaired Language	Recurrent pneumonia, Neutropenia	OMIM:620012
Pseudo-Torch Syndrome 2	Lethargy, Thrombocytopenia	OMIM:617397
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Crigler-Najjar Syndrome	Lethargy, Infectious encephalitis	ORPHA:205
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Citrullinemia, Classic	Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated plasma citrulline, Let...	OMIM:215700
Tick-Borne Encephalitis	Elevated circulating C-reactive protein concentration, Meningitis, Leukocytosis, Unusual CNS infe...	ORPHA:297
Rheumatoid Arthritis	Fever, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Q Fever	Fever, Unusual infection, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Weight loss, Granul...	ORPHA:781
Tbck-Related Intellectual Disability Syndrome	Bipolar affective disorder, Abnormal circulating lipid concentration, Hypothermia	ORPHA:488632
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia	ORPHA:445038
Alg8-Cdg	Hyponatremia, Small for gestational age, Anemia, Failure to thrive, Thrombocytopenia	ORPHA:79325
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Rothmund-Thomson Syndrome	Calcinosis, Aplastic anemia, Small for gestational age, Neutropenia, Leukemia, Anemia	ORPHA:2909
Diamond-Blackfan Anemia 7	Macrocytic anemia, Recurrent infections, Increased mean corpuscular volume, Neutropenia, Recurren...	OMIM:612562
Orthostatic Hypotension 1	Hypomagnesemia, Nocturia, Increased blood urea nitrogen	OMIM:223360
Seckel Syndrome 1	Pancytopenia	OMIM:210600
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Lethargy	OMIM:604377
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Stt3B-Cdg	Failure to thrive, Thrombocytopenia	ORPHA:370924
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Overweight, Lethargy, Abnormal circulating thyroglobulin level, Hypothermia	ORPHA:226307
Fusariosis	Fever, Brain abscess, Lung abscess, Abnormality of the spleen, Invasive fungal infection, Unusual...	ORPHA:228119
Mitochondrial Neurogastrointestinal Encephalomyopathy	Hyperalaninemia, Cachexia, Anemia, Weight loss	ORPHA:298
Cirrhosis, Familial	Fever, Increased level of propylene glycol in blood, Lethargy	OMIM:215600
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Thrombocytopenia	OMIM:615597
Pyomyositis	Fever, Recurrent cutaneous abscess formation, Leukocytosis, Sepsis, Recurrent infections, Weight ...	ORPHA:764
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Cardiomyo...	OMIM:235200
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Refsum Disease, Classic	Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal physiology, Card...	OMIM:266500
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Hyperammonemia, Hyperleucinemia, Lethargy, Failure to thrive	OMIM:210210
Gray Platelet Syndrome	Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,...	OMIM:139090
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Anemia, Bone marrow hypocellularity, Failure to thrive, Thrombocyt...	ORPHA:3322
Rothmund-Thomson Syndrome Type 1	Calcinosis, Aplastic anemia, Small for gestational age, Neutropenia, Leukemia, Anemia	ORPHA:221008
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Recurrent respiratory infections, Failure to thrive, Hypothermia	ORPHA:17
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Proteinuria, Increased blood urea nitrogen, Anemia	ORPHA:90321
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hyperammonem...	OMIM:311250
Hyper-Igd Syndrome	Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Re...	OMIM:260920
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Failure to thrive, Thrombocytopenia	OMIM:616577
Wolman Disease	Fever, Cachexia, Bone-marrow foam cells, Splenomegaly, Anemia	ORPHA:75233
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Thrombocytopenia, Sepsis, Hepatosplenomegaly, Increased circula...	ORPHA:505248
Rift Valley Fever	Fever, Thrombocytopenia, Periodic fever, Severe viral infection, Increased circulating IgG level,...	ORPHA:319251
Acute Generalized Exanthematous Pustulosis	Fever, Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia	ORPHA:293173
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Failure to thrive, Anemia, Weight loss	ORPHA:1842
Mitochondrial Dna-Associated Leigh Syndrome	Fever, Hypothermia, Low plasma citrulline, Hyperalaninemia, Failure to thrive	ORPHA:255210
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Fever, Hypothermia, Hyperlipidemia, Recurrent upper respiratory tract infections, H...	ORPHA:293987
Lysinuric Protein Intolerance	Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Intr...	OMIM:222700
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Small for gestational age, Elevated circulating creatine kinase concentration, Thromb...	OMIM:301056
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Degcags Syndrome	Fever, Pancytopenia, Recurrent urinary tract infections, Small for gestational age, Congenital hy...	OMIM:619488
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Leukocytosis, Recurrent otitis media, Lethargy, Recurrent lower respiratory tract infections, Fai...	OMIM:620233
Alexander Disease	Failure to thrive, Infectious encephalitis, Hypothermia, Depression	ORPHA:58
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Kaposi Sarcoma	Fever, Abnormality of the spleen, Recurrent herpes, Weight loss	ORPHA:33276
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Cardiomegaly	ORPHA:3137
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Malignant hyperthermia, Hyperph...	ORPHA:466650
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Recurrent urinary tract infections, Depression, Hepatosplenomegaly, Recurrent infec...	ORPHA:309282
Tufted Angioma	Anemia, Megakaryocytopenia, Thrombocytopenia	ORPHA:1063
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I...	OMIM:223900
Juvenile Huntington Disease	Bradykinesia, Weight loss, Depression	ORPHA:248111
Sarcoidosis	Fever, Hemolytic anemia, Hypercalcemia, Hypothermia, Eosinophilia, Thrombocytopenia, Increased T ...	ORPHA:797
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Leth...	OMIM:615751
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,...	ORPHA:85443
Shigellosis	Hyponatremia, Fever, Failure to thrive in infancy, Abscess, Leukocytosis, Abnormal blood ion conc...	ORPHA:810
Rothmund-Thomson Syndrome Type 2	Calcinosis, Aplastic anemia, Small for gestational age, Neutropenia, Leukemia, Anemia	ORPHA:221016
Riddle Syndrome	Elevated circulating alpha-fetoprotein concentration, Recurrent viral infections, Recurrent pneum...	ORPHA:420741
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280785
Mulibrey Nanism	Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly	OMIM:253250
Cyclic Vomiting Syndrome	Lethargy	OMIM:500007
Braddock-Carey Syndrome 2	Megakaryocytopenia, Thrombocytopenia	OMIM:619981
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Cholera	Hyponatremia, Fever, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Lethargy	ORPHA:173
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent Aspergillus infections, Autoimmune hemolytic anemia, Recurrent herpes, Autoimmune throm...	ORPHA:391487
Leukocyte Adhesion Deficiency Type Ii	Chronic lymphocytic meningitis, Neutrophilia, Recurrent urinary tract infections, Small for gesta...	ORPHA:99843
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
Toxic Epidermal Necrolysis	Recurrent respiratory infections, Sepsis, Weight loss, Anemia, Neutropenia, Thrombocytopenia	ORPHA:537
Glycogen Storage Disease Ib	Splenomegaly, Hyperlipidemia, Recurrent bacterial infections, Hyperuricemia, Neutropenia	OMIM:232220
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha...	OMIM:619743
Takayasu Arteritis	Fever, Anemia, Weight loss	ORPHA:3287
Yellow Fever	Fever, Increased circulating interleukin 6 concentration, Neutrophilia, Elevated circulating crea...	ORPHA:99829
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Hyperammonemia...	ORPHA:391428
Adult-Onset Autosomal Dominant Leukodystrophy	Head titubation, Temperature instability, Recurrent urinary tract infections, Hypothermia	ORPHA:99027
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Autoimmune thrombocytopenia, T lymphocytopenia, Recurrent sinus...	OMIM:607944
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Fever, Weight loss, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Biotinidase Deficiency	Splenomegaly, Lethargy, Hyperammonemia	OMIM:253260
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Trichothiodystrophy	Recurrent bronchopulmonary infections, Increased mean corpuscular hemoglobin concentration, Recur...	ORPHA:33364
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraproteinemia, Chronic ly...	ORPHA:91139
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia, Recurrent infections	OMIM:619463
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Elevated circulating creatine kinase concentration, Cachexia	ORPHA:1933
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Fever, Lethargy, Truncal titubation	OMIM:607483
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia, Failure to thrive, Small for gestational age, Thrombocytopenia	OMIM:208085
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia, Hypothermia	ORPHA:31826
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Hypothermia	OMIM:608800
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, N...	OMIM:617713
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Recurrent infections, Chronic neutropenia, Neutropenia	OMIM:258360
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Developmental And Epileptic Encephalopathy 41	Lethargy	OMIM:617105
Peripheral Primitive Neuroectodermal Tumor	Anemia, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentratio...	ORPHA:370348
Aromatic L-Amino Acid Decarboxylase Deficiency	Lethargy, Temperature instability, Intermittent hypothermia	OMIM:608643
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Dysgammaglobulinemia, Recurrent ...	OMIM:251260
Cartilage-Hair Hypoplasia	Decreased circulating antibody level, Hypocalcemia, Neutropenia, Failure to thrive, Anemia	ORPHA:175
Lujo Hemorrhagic Fever	Fever, Elevated circulating C-reactive protein concentration, Leukocytosis, Severe viral infectio...	ORPHA:319213
Leigh Syndrome	Severe viral infection, Neutropenia, Hyperalaninemia, Failure to thrive, Anemia	ORPHA:506
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Recurrent lower respiratory tract infections, Failure to thrive, Neutropenia	OMIM:618005
Argininosuccinic Aciduria	Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure to thrive, Hy...	OMIM:207900
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Recurrent infections, Neutropenia	OMIM:617827
Alveolar Echinococcosis	Fever, Liver abscess, Eosinophilia, Weight loss, Abnormal spleen morphology, Increased circulatin...	ORPHA:284
Whipple Disease	Hyponatremia, Fever, Cachexia, Splenomegaly, Depression, Infectious encephalitis, Anemia	ORPHA:3452
Biotinidase Deficiency	Recurrent viral infections, Recurrent candida infections, Hyperammonemia, Recurrent fungal infect...	ORPHA:79241
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Lethargy, Failure to thrive	ORPHA:395
Fanconi Anemia, Complementation Group N	Aplastic anemia	OMIM:610832
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal...	ORPHA:57777
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Perry Syndrome	Weight loss, Apathy, Depression	ORPHA:178509
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:305000
Caroli Disease	Fever, Liver abscess, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight loss, Abn...	ORPHA:53035
Congenital Rubella Syndrome	Splenomegaly, Thrombocytopenia, Anemia	ORPHA:290
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Recurrent urinary tract infections, Hepatosplenomegaly, Weight loss, Hypoalbumi...	OMIM:619487
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Mitochondrial Trifunctional Protein Deficiency	Lethargy, Failure to thrive in infancy, Hypocalcemia	ORPHA:746
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess	OMIM:233710
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec...	OMIM:618131
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Hyper...	OMIM:256040
Thyroid Dyshormonogenesis 1	Lethargy	OMIM:274400
Acute Radiation Syndrome	Fever, Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Glucose-Galactose Malabsorption	Fever, Hypercalcemia, Weight loss, Hypernatremia, Failure to thrive	ORPHA:35710
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Bradykinesia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia, Weight loss	ORPHA:3165
Idiopathic Bronchiectasis	Fever, Cachexia, Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae i...	ORPHA:60033
Poems Syndrome	Thrombocytosis, Increased circulating antibody level, Polycythemia, Weight loss	ORPHA:2905
Hermansky-Pudlak Syndrome 10	Splenomegaly, Recurrent respiratory infections, Neutropenia	OMIM:617050
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Fever, Intraalveolar phospholipid accumulation, Weigh...	ORPHA:747
Autosomal Dominant Progressive External Ophthalmoplegia	Bipolar affective disorder, Elevated circulating creatine kinase concentration, Depression, Brady...	ORPHA:254892
Peroxisome Biogenesis Disorder 5A (Zellweger)	Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phyt...	OMIM:614866
Mogs-Cdg	Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea...	ORPHA:79330
Trichinellosis	Lethargy, Increased circulating IgE level, Apathy, Meningitis	ORPHA:863
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess	OMIM:233690
Multifocal Atrial Tachycardia	Lethargy	ORPHA:3282
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia	OMIM:231005
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss	ORPHA:1979
Solitary Fibrous Tumor	Hypophosphatemic rickets, Reduced C-peptide level, Fever, Weight loss	ORPHA:2126
Sporadic Infantile Bilateral Striatal Necrosis	Recurrent upper respiratory tract infections, Titubation, Bradykinesia, Abnormal posturing, Recur...	ORPHA:225147
Immunodeficiency 92	Hepatomegaly, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytope...	OMIM:619652
Insulinoma	Lethargy, Increased body weight	ORPHA:97279
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Revesz Syndrome	Aplastic anemia, Bone marrow hypocellularity	OMIM:268130
Pyruvate Dehydrogenase Deficiency	Lethargy	ORPHA:765
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Thro...	ORPHA:2072
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy...	OMIM:616897
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven...	OMIM:306955
Isaacs Syndrome	Weight loss	ORPHA:84142
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Primary Sclerosing Cholangitis	Fever, Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepa...	ORPHA:171
Caroli Syndrome	Fever, Liver abscess, Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Sepsis, Leukope...	ORPHA:480520
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Martin-Probst Syndrome	Pancytopenia	OMIM:300519
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactive protein conc...	OMIM:612852
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Weight loss	ORPHA:216866
Polymyositis	Fever, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:732
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent ear infections...	ORPHA:163956
Thrombocytopenia 6	Myelofibrosis, Bone marrow hypercellularity, Thrombocytopenia	OMIM:616937
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating ...	ORPHA:95409
Spinocerebellar Ataxia 48	Cachexia, Depression	OMIM:618093
Neuroblastoma, Susceptibility To, 1	Fever, Failure to thrive, Anemia, Weight loss	OMIM:256700
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia, Elevated hepatic iron concentration	OMIM:614946
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Recurrent bacterial infections, Hyperu...	ORPHA:79259
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Fever, Increased circulating interleukin 6 concentration, Hemolytic anemia, Brain a...	ORPHA:544482
Fanconi Anemia, Complementation Group F	Anemia, Leukopenia, Bone marrow hypocellularity, Failure to thrive, Thrombocytopenia	OMIM:603467
Magel2-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Increased body weight, Abdominal obesity, Lethargy, Temperature...	ORPHA:398069
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Abnormal ci...	ORPHA:79277
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Stevens-Johnson Syndrome	Fever, Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Weight loss, Anemia,...	ORPHA:36426
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Secondary Short Bowel Syndrome	Low plasma citrulline, Sepsis, Abnormal blood ion concentration, Weight loss, Failure to thrive	ORPHA:95427
Pulmonary Non-Tuberculous Mycobacterial Infection	Fever, Disseminated nontuberculous mycobacterial infection, Mycobacterium abscessus abscessus inf...	ORPHA:411703
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Recurrent infections, ...	OMIM:620005
Osteootohepatoenteric Syndrome	Weight loss, Hypokalemia, Increased serum bile acid concentration, Failure to thrive, Anemia	OMIM:619377
Pediatric Systemic Lupus Erythematosus	Fever, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Drug Reaction With Eosinophilia And Systemic Symptoms	Fever, Eosinophilia, Weight loss, Lymphocytosis, Infectious encephalitis	ORPHA:139402
Isolated Complex I Deficiency	Increased serum pyruvate, Lethargy, Failure to thrive	ORPHA:2609
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Familial Mediterranean Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	OMIM:249100
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Sim1-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Obesity, Abdominal obesity, Lethargy, Failure to thrive	ORPHA:398079
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Cohen Syndrome	Failure to thrive in infancy, Obesity, Neutropenia	ORPHA:193
Fructose-1,6-Bisphosphatase Deficiency	Fever, Lethargy	OMIM:229700
Desmoplastic Small Round Cell Tumor	Cachexia, Anemia, Weight loss	ORPHA:83469
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom...	ORPHA:324410
Sandifer Syndrome	Abnormal posturing, Anemia	ORPHA:71272
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Abnormality of serum cytokine level, Microangiopathic hemolytic...	ORPHA:464343
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hyperammonemia, Hyperornithinemia, Lethargy, Failure to thrive, Abnormal circulating citrulline c...	ORPHA:415
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess	OMIM:306400
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Pediatric-Onset Graves Disease	Splenomegaly, Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Thrombocyt...	ORPHA:525731
Non-Functioning Paraganglioma	Hypercalcemia, Weight loss	ORPHA:94080
Amoebiasis Due To Free-Living Amoebae	Fever, Unusual skin infection, Granuloma, Lethargy, Infectious encephalitis, Increased red blood ...	ORPHA:68
Mulibrey Nanism	Cachexia	ORPHA:2576
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg...	OMIM:618278
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Congenital Disorder Of Glycosylation, Type Iig	Failure to thrive in infancy, Giant platelets, Recurrent infections, Anemia, Thrombocytopenia	OMIM:611209
Hirschsprung Disease	Failure to thrive in infancy, Sepsis, Weight loss	ORPHA:388
Hereditary Sensory And Autonomic Neuropathy Type 4	Abscess, Hypothermia, Recurrent Staphylococcus aureus infections, Recurrent fever, Unexplained fe...	ORPHA:642
Khan-Khan-Katsanis Syndrome	Failure to thrive, Lymphopenia, Anemia, Neutropenia	OMIM:618460
Hereditary Fructose Intolerance	Lethargy, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Hereditary Orotic Aciduria	Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia	ORPHA:30
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy	OMIM:618232
Igg4-Related Dacryoadenitis And Sialadenitis	Fever, Increased circulating IgG4 level, Increased circulating IgA level, Weight loss, Increased ...	ORPHA:79078
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Glycogen Storage Disease Ic	Cyclic neutropenia, Hyperlipidemia, Recurrent upper respiratory tract infections, Hyperuricemia	OMIM:232240
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss, Recurrent infections	ORPHA:704
Farber Disease	Thrombocytopenia, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Recurrent fev...	ORPHA:333
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia	ORPHA:1438
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Pseudo-Torch Syndrome 1	Splenomegaly, Failure to thrive, Thrombocytopenia	OMIM:251290
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Moynahan Syndrome	Cachexia	ORPHA:2574
Cronkhite-Canada Syndrome	Splenomegaly, Cachexia, Anemia	ORPHA:2930
Wolfram Syndrome 1	Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Mitochondrial Complex I Deficiency, Nuclear Type 1	Splenomegaly, Hyperalaninemia, Failure to thrive, Lethargy	OMIM:252010
Hemorrhagic Fever-Renal Syndrome	Fever, Increased circulating interleukin 6 concentration, Thrombocytopenia, Leukocytosis, Severe ...	ORPHA:340
Perry Syndrome	Bradykinesia, Weight loss, Apathy, Depression	OMIM:168605
Ogden Syndrome	Lethargy	ORPHA:276432
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri...	ORPHA:308552
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Hermansky-Pudlak Syndrome	Weight loss, Abnormality of thrombocytes, Neutropenia	ORPHA:79430
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l...	ORPHA:275761
Gaucher Disease, Perinatal Lethal	Splenomegaly, Hepatosplenomegaly, Anemia, Apathy, Decreased body weight, Thrombocytopenia	OMIM:608013
Malt Lymphoma	Fever, Recurrent respiratory infections, Anemia, Weight loss	ORPHA:52417
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, ...	ORPHA:268
Aicardi-Goutieres Syndrome 1	Fever, Splenomegaly, Thrombocytopenia	OMIM:225750
Menkes Disease	Sepsis, Hypothermia	ORPHA:565
Combined Oxidative Phosphorylation Deficiency 11	Lethargy	OMIM:614922
Primary Sjögren Syndrome	Normocytic anemia, Decreased circulating antibody level, Depression, Leukopenia, Normochromic ane...	ORPHA:289390
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Hypothermia, Decreased serum iron	ORPHA:438213
Glycerol Kinase Deficiency	Lethargy, Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia	OMIM:307030
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card...	OMIM:614921
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy	OMIM:201450
Adams-Oliver Syndrome	Leukopenia, Failure to thrive, Thrombocytopenia	ORPHA:974
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly	OMIM:268800
Gaucher Disease, Type Ii	Splenomegaly, Anemia, Bronchiolitis, Failure to thrive, Thrombocytopenia	OMIM:230900
Osteosarcoma	Fever, Weight loss	ORPHA:668
Recon Progeroid Syndrome	Thrombocytopenia, Anemia, Recurrent infections	OMIM:620370
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Hyperkalemia, Recurrent infections, Weight loss...	ORPHA:361
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Depression	OMIM:128100
Eisenmenger Syndrome	Brain abscess, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anem...	ORPHA:97214
Nodular Non-Suppurative Panniculitis	Fever, Splenomegaly, Weight loss	ORPHA:33577
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Diffuse Cutaneous Mastocytosis	Myeloproliferative disorder, Hepatomegaly, Abnormality of the spleen, Lymphocytosis	ORPHA:79456
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Neutropenia	OMIM:617799
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Cardiomegaly	ORPHA:349
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Thrombocytopen...	OMIM:277900
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bipolar affective disorder, Autoim...	ORPHA:77293
Juvenile Dermatomyositis	Calcinosis, Fever, Elevated circulating creatine kinase concentration, Elevated circulating C-rea...	ORPHA:93672
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly	OMIM:619259
Pleural Mesothelioma	Weight loss	ORPHA:50251
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Systemic Capillary Leak Syndrome	Leukocytosis, Weight loss	ORPHA:188
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:31150
Addison Disease	Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka...	ORPHA:85138
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia	ORPHA:1389
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
21Q22.11Q22.12 Microdeletion Syndrome	Recurrent otitis media, Thrombocytopenia, Failure to thrive in infancy, Anemia	ORPHA:261323
Noonan Syndrome 4	Thrombocytopenia, Large for gestational age	OMIM:610733
Tubulointerstitial Nephritis And Uveitis Syndrome	Fever, Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circula...	ORPHA:91500
Giant Cell Arteritis	Fever, Abnormality of thrombocytes, Recurrent pharyngitis, Depression, Weight loss, Meningitis	ORPHA:397
Occipital Horn Syndrome	Recurrent urinary tract infections, Hypothermia	ORPHA:198
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Cardiomegaly	OMIM:105210
Bullous Pemphigoid	Weight loss, Recurrent infections	ORPHA:703
Idiopathic Hypereosinophilic Syndrome	Fever, Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, H...	ORPHA:3260
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Lethargy, Failure to thrive	OMIM:229600
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Mcdonough Syndrome	Cachexia	ORPHA:2471
Chronic Graft Versus Host Disease	Pancytopenia, Weight loss, Recurrent infections	ORPHA:99921
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v...	OMIM:602782
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Fever, Thrombocytopenia, Hyperbilirubinemia	ORPHA:464321
Japanese Encephalitis	Hyponatremia, Fever, Neutrophilia, Increased circulating IgM level, Increased circulating antibod...	ORPHA:79139
Glycine Encephalopathy	Lethargy, Hyperglycinemia	ORPHA:407
Zygomycosis	Fever, Brain abscess, Unusual skin infection, Invasive fungal infection, Neutropenia, Splenic abs...	ORPHA:73263
Gm1 Gangliosidosis	Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Weight loss, Failure to thriv...	ORPHA:354
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Obesity, Anemia	OMIM:620072
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Granulomatosis With Polyangiitis	Fever, Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, W...	ORPHA:900
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp...	ORPHA:647
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra...	ORPHA:449395
Kaposiform Lymphangiomatosis	Fever, Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia	ORPHA:464329
Primary Hepatic Neuroendocrine Carcinoma	Elevated carcinoembryonic antigen level, Elevated circulating alpha-fetoprotein concentration, We...	ORPHA:100085
Christianson Syndrome	Cachexia	ORPHA:85278
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Failure to thrive	OMIM:201470
Liver Disease, Severe Congenital	Hyponatremia, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein concentr...	OMIM:619991
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume, Recurrent infections	OMIM:616737
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ...	ORPHA:2968
Digeorge Syndrome	Bipolar affective disorder, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Obesity,...	OMIM:188400
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Fever, Weight loss	ORPHA:79127
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid...	OMIM:230000
Medulloblastoma	Lethargy, Abnormal bone marrow cell morphology	ORPHA:616
Budd-Chiari Syndrome	Fever, Splenomegaly, Weight loss	ORPHA:131
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocyto...	ORPHA:14
Sponastrime Dysplasia	Small for gestational age, Recurrent pneumonia, Neutropenia, Decreased circulating antibody level	ORPHA:93357
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body weight, Mic...	ORPHA:244242
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Eosinophilic Granulomatosis With Polyangiitis	Fever, Eosinophilia, Weight loss	ORPHA:183
Nephroblastoma	Fever, Weight loss	ORPHA:654
Thymic Neuroendocrine Tumor	Hypercalcemia, Weight loss	ORPHA:97289
Rat-Bite Fever	Fever, Sepsis, Weight loss, Meningitis, Anemia	ORPHA:31205
Microsporidiosis	Fever, Brain abscess, Cachexia, Abnormality of the spleen, Sepsis, Bronchiolitis, Weight loss, Ab...	ORPHA:2552
Renpenning Syndrome	Cachexia	ORPHA:3242
Yao Syndrome	Recurrent fever, Weight loss	OMIM:617321
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Abnormal megakar...	ORPHA:274
Lathosterolosis	Thrombocytopenia, Failure to thrive, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Cachexia	ORPHA:93941
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia	ORPHA:52503
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythrocyte enzyme l...	ORPHA:2388
Juvenile Polyposis Of Infancy	Refractory anemia, Cachexia, Hypoalbuminemia, Anemia	ORPHA:79076
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss, Mildly elevated creatine kinase, Depression	OMIM:607459
Dyskeratosis Congenita	Recurrent respiratory infections, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Bon...	ORPHA:1775
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Posterior Urethral Valve	Lethargy, Recurrent urinary tract infections	ORPHA:93110
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:612199
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Infantile Krabbe Disease	Cachexia, Recurrent infections, Unexplained fevers, Temperature instability, Failure to thrive	ORPHA:206436
Say-Barber-Miller Syndrome	Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant...	ORPHA:3132
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Histiocytoid Cardiomyopathy	Fever, Lethargy, Failure to thrive	ORPHA:137675
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Weight loss	ORPHA:677
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Porphyria, Congenital Erythropoietic	Elevated circulating uroporphyrin concentration, Hemolytic anemia, Thrombocytopenia, Splenomegaly	OMIM:263700
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Familial Colorectal Cancer Type X	Abnormal circulating creatine concentration, Weight loss, Depression	ORPHA:440437
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Oromandibular Dystonia	Weight loss, Depression	ORPHA:93958
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Glucagonoma	Hypercalcemia, Acanthocytosis, Depression, Weight loss, Normochromic anemia	ORPHA:97280
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Xfe Progeroid Syndrome	Failure to thrive, Hypoalbuminemia, Cachexia	OMIM:610965
Aredyld Syndrome	Splenomegaly, Cachexia	ORPHA:1133
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese...	ORPHA:79102
Polycythemia Vera	Myelofibrosis, Splenomegaly, Weight loss, Acute leukemia	ORPHA:729
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
22Q11.2 Deletion Syndrome	Bipolar affective disorder, Impaired T cell function, Abnormality of thrombocytes, Splenomegaly, ...	ORPHA:567
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Thr...	OMIM:274000
Fatal Familial Insomnia	Fever, Weight loss	OMIM:600072
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Increas...	OMIM:233450
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Granulomatosis With Polyangiitis	Fever, Granulomatosis, Weight loss	OMIM:608710
Lymphoid Interstitial Pneumonia	Fever, Failure to thrive, Severe viral infection, Weight loss	ORPHA:79128
Leptospirosis	Fever, Hyperproteinemia, Meningitis, Thrombocytopenia	ORPHA:509
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Neutropenia	OMIM:617248
Adrenocortical Carcinoma	Hypokalemia, Increased body weight, Weight loss	ORPHA:1501
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Weight loss	ORPHA:276621
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym...	OMIM:603041
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight	OMIM:619005
Dubowitz Syndrome	Abnormality of neutrophils, Recurrent infections, Acute lymphoblastic leukemia, Anemia, Thrombocy...	ORPHA:235
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Failure to thrive in infancy, Cachexia	ORPHA:702
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Thymic Carcinoma	Weight loss	ORPHA:99868
Hennekam-Beemer Syndrome	Mastocytosis	ORPHA:2135
Alobar Holoprosencephaly	Depression, Apathy, Lethargy, Temperature instability, Failure to thrive	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depression, Apathy, Lethargy, Temperature instability, Failure to thrive	ORPHA:93926
Lobar Holoprosencephaly	Depression, Apathy, Lethargy, Temperature instability, Failure to thrive	ORPHA:93924
Semilobar Holoprosencephaly	Depression, Apathy, Lethargy, Temperature instability, Failure to thrive	ORPHA:220386
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Fever, Sepsis, Depression, Neutropenia, Anemia	ORPHA:95455
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Recurrent respiratory infections, Hypoammonemia, Depression, Anemia, Hypokalemia, H...	ORPHA:534
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Weight loss, Low-grade fever, Hepatosplenomegaly	ORPHA:85408
Deeah Syndrome	Decreased hemoglobin concentration, Abnormality of temperature regulation, Thrombocytopenia, Decr...	OMIM:619004
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Chronic neutropenia, Large for gestational age	ORPHA:500095
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Multiple Endocrine Neoplasia Type 1	Lethargy, Weight loss, Hypercalcemia, Depression	ORPHA:652
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Large for gestational age	OMIM:617107
Pulmonary Alveolar Microlithiasis	Fever, Abnormal circulating calcium concentration, Weight loss, Increased circulating surfactant ...	ORPHA:60025
Gerstmann-Straussler Disease	Bradykinesia, Weight loss, Depression	OMIM:137440
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu...	OMIM:252500
Kufor-Rakeb Syndrome	Fever, Lethargy, Apathy, Bradykinesia	ORPHA:306674
Jacobsen Syndrome	Recurrent respiratory infections, Failure to thrive, Thrombocytopenia	OMIM:147791
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Acute Liver Failure	Fever, Thrombocytopenia, Hyperammonemia, Depression	ORPHA:90062
Tetrasomy 12P	Cachexia	ORPHA:884
Erdheim-Chester Disease	Fever, Anemia, Weight loss	ORPHA:35687
Jacobsen Syndrome	Recurrent respiratory infections, Bipolar affective disorder, Bone marrow hypocellularity, Thromb...	ORPHA:2308
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Failure to thrive, Cachexia	ORPHA:217346
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Depression	ORPHA:536
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Mucopolysaccharidur...	ORPHA:581
Hardikar Syndrome	Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hyperbilirub...	OMIM:301068
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of tumor necrosis factor secretion	ORPHA:85436
Cap Polyposis	Weight loss	ORPHA:160148
Hereditary Late-Onset Parkinson Disease	Bradykinesia, Weight loss, Apathy, Depression	ORPHA:411602
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Recurrent pneumoni...	ORPHA:731
Vipoma	Hypokalemia, Hypercalcemia, Normochromic anemia, Weight loss	ORPHA:97282
Ogden Syndrome	Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def...	OMIM:300855
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Velocardiofacial Syndrome	Hypocalcemia, Impaired T cell function, Recurrent infections	OMIM:192430
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Cardiom...	ORPHA:116
Somatostatinoma	Hypercalcemia, Hypochromic microcytic anemia, Weight loss	ORPHA:97283
Atelis Syndrome 2	Thrombocytopenia, Anemia	OMIM:620185
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Truncal obesity, Thrombocytopenia	OMIM:301072
Liposarcoma	Weight loss	ORPHA:69078
Oculopharyngodistal Myopathy 1	Elevated circulating creatine kinase concentration, Weight loss	OMIM:164310
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Weight loss	ORPHA:29072
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Glossopharyngeal Neuralgia	Weight loss, Depression	ORPHA:221098
Juvenile Amyotrophic Lateral Sclerosis	Head titubation, Cachexia	ORPHA:300605
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Thrombocytopenia,...	ORPHA:84
Nocardiosis	Fever, Brain abscess, Liver abscess, Severe infection, Unusual CNS infection, Sepsis, Weight loss...	ORPHA:31204
Parenteral Nutrition-Associated Cholestasis	Splenomegaly, Abnormality of cytokine secretion	ORPHA:567983
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Klatskin Tumor	Fever, Weight loss	ORPHA:99978
Hydranencephaly	Lethargy, Meningitis	ORPHA:2177
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri...	ORPHA:365
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Weight loss	ORPHA:100075
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume, Recurrent infections	ORPHA:487796
Cystinosis, Nephropathic	Hyponatremia, Failure to thrive in infancy, Splenomegaly, Reduced blood urea nitrogen, Hypophosph...	OMIM:219800
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega...	ORPHA:75565
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
Short Syndrome	Weight loss	ORPHA:3163
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia, Increased c...	ORPHA:51
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Schwartz-Jampel Syndrome	Cachexia, Elevated circulating creatine kinase concentration, Malignant hyperthermia, Decreased b...	ORPHA:800
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Anemia, Recurrent otitis media, Failure to thrive, Thrombocytopenia	OMIM:619525
Dermatomyositis	Fever, Recurrent respiratory infections, Abnormal eosinophil morphology, Weight loss	ORPHA:221
Aspartylglucosaminuria	Recurrent respiratory infections, Vacuolated lymphocytes, Neutropenia	OMIM:208400
Bohring-Opitz Syndrome	Abnormal cardiac septum morphology, Urinary retention, Cardiomegaly	ORPHA:97297
Lynch Syndrome	Weight loss, Depression	ORPHA:144
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Hypokalemia, Decreased circulating c...	ORPHA:3337
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Weight loss	ORPHA:309031
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Mucolipidosis Type Ii	Splenomegaly, Weight loss, Recurrent respiratory infections, Hepatosplenomegaly	ORPHA:576
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C...	ORPHA:904
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Failure to thrive, Weight loss	ORPHA:1018
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Familial Pancreatic Carcinoma	Weight loss, Peritoneal abscess, Hepatosplenomegaly	ORPHA:1333
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Reactive Arthritis	Fever, Recurrent urinary tract infections, Weight loss	ORPHA:29207
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Weight loss	ORPHA:100078
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Behçet Disease	Fever, Splenomegaly, Weight loss, Meningitis, Infectious encephalitis	ORPHA:117
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
X-Linked Intellectual Disability, Cabezas Type	Obesity, Cachexia	ORPHA:85293
Camurati-Engelmann Disease	Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia	ORPHA:1328
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Parathyroid Carcinoma	Weight loss, Hypercalcemia, Hypophosphatemia	ORPHA:143
Rett Syndrome	Cachexia	OMIM:312750
Ppoma	Hypercalcemia, Weight loss	ORPHA:97278
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Cushing Syndrome Due To Ectopic Acth Secretion	Leukocytosis, Increased body weight, Recurrent cutaneous fungal infections, Depression, Weight lo...	ORPHA:99889
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, ...	ORPHA:3472
Progeroid Short Stature With Pigmented Nevi	Small for gestational age, Impaired T cell function, Recurrent viral infections	OMIM:176690
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Grfoma	Hypercalcemia, Weight loss	ORPHA:97261
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Zollinger-Ellison Syndrome	Hypercalcemia, Weight loss	ORPHA:913
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Defective production of NFKB1-dependent cytokines	OMIM:612132
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Tsh-Secreting Pituitary Adenoma	Hypokalemia, Weight loss	ORPHA:91347
Malignant Atrophic Papulosis	Weight loss	ORPHA:679
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Myocardial calcif...	ORPHA:51608
Osteogenesis Imperfecta	Small for gestational age, Thrombocytopenia	ORPHA:666
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Failure to thrive, Weight loss	ORPHA:2020
Pineoblastoma	Lethargy	ORPHA:251909
Unilateral Polymicrogyria	Abnormal posturing	ORPHA:268943
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive	ORPHA:90794
Cockayne Syndrome	Splenomegaly, Hyperuricemia, Cachexia	ORPHA:191
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia	ORPHA:109
Trisomy 18	Cachexia	ORPHA:3380
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
African Trypanosomiasis	Splenomegaly, Weight loss, Hepatosplenomegaly, Apathy, Periodic fever	ORPHA:3385
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy	OMIM:163950
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Weight loss	ORPHA:99885
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Seckel Syndrome	Cachexia	ORPHA:808
Tropical Pancreatitis	Weight loss	ORPHA:103918
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss	ORPHA:740
Proteus Syndrome	Splenomegaly, Thymus hyperplasia, Cachexia, Recurrent infections	ORPHA:744
Stickler Syndrome	Recurrent respiratory infections, Slender build, Cachexia	ORPHA:828
Marfan Syndrome	Slender build, Cachexia	ORPHA:558
Norrie Disease	Failure to thrive, Cachexia	ORPHA:649
Pmm2-Cdg	Impaired neutrophil chemotaxis	ORPHA:79318

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Testis - MPATH pathological process term hypoplasia	Stx11^em1(IMPC)Mbp	HOM		Early adult

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 Stx11.

No publications found that use IMPC mice or data for Stx11.

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MGI Allele	Allele Type	Produced
Stx11^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Stx11^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Stx11^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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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Gene: Stx11 MGI:1921982

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Stx11 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data