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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
enlarged heart	Stx11^em1(IMPC)Mbp	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Stx11^em1(IMPC)Mbp	HOM	Early adult	0.00
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
increased heart weight	Stx11^em1(IMPC)Mbp	HOM	Early adult	1.18×10^-05
abnormal kidney morphology	Stx11^em1(IMPC)Mbp	HOM	Early adult	0.00
small kidney	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

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

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 (1272 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		Hypertriglyceridemia, Anemia, Hemophagocytosis, Fever, Recurrent fever, Thrombocytopenia, Splenom...	OMIM:603552
Familial Hemophagocytic Lymphohistiocytosis		Hypertriglyceridemia, Abnormal circulating cytokine concentration, Anemia, Hemophagocytosis, Incr...	ORPHA:540

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

Disease	Matching phenotypes	Source
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Immunodeficiency 69	BCGitis, Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, BC...	OMIM:618963
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, De...	OMIM:308240
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hemophagocytosis, Pancytopenia, Recurrent infections, Decr...	OMIM:300635
Immunodeficiency 50	Recurrent urinary tract infections, Decreased circulating antibody level, Lymphopenia, Recurrent ...	OMIM:300988
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Recurrent lower respiratory tract infections, Pancytopenia, Complete or nea...	OMIM:620282
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Recurrent respiratory infections, Pancytopenia, Lymphocytos...	OMIM:614470
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, T lymphocytopenia, Decrease...	ORPHA:572
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Hemophagocytosis, Decreased circulating antibody level, Abnormal na...	OMIM:613101
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti...	OMIM:615897
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Recurrent lowe...	OMIM:613501
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein co...	OMIM:613011
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Anemia, Hemophagocytosis, Reduced natural killer cell activity, Fever, Hepa...	OMIM:608898
Immunodeficiency 46	Chronic oral candidiasis, Sepsis, Anemia, Decreased circulating antibody level, Failure to thrive...	OMIM:616740
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Bone marrow hypercellularity, Pancytopenia, Bone marrow hypocellula...	ORPHA:318
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Anemia, Increased circulating antibody level, Recurrent infections, Failure to thrive, Thrombocyt...	OMIM:615285
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, Recurrent infections, B lymphocytopenia, Increas...	OMIM:619824
Leishmaniasis	Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophage morphology, Recur...	ORPHA:507
Immunodeficiency, Common Variable, 13	Pancytopenia, B lymphocytopenia, Decreased circulating antibody level, Acute lymphoblastic leukem...	OMIM:616873
Acquired Idiopathic Sideroblastic Anemia	Abnormal megakaryocyte morphology, Normochromic anemia, Anemia of inadequate production, Bone mar...	ORPHA:75564
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Failure to thrive, Bone marrow maturation arrest, Recurrent respiratory i...	OMIM:616022
Adult Idiopathic Neutropenia	Bone marrow hypercellularity, Abnormal bone marrow cell morphology, Recurrent infections, Fever, ...	ORPHA:2688
Lymphoproliferative Syndrome 2	Aplastic anemia, EBV encephalitis, Sepsis, Hemophagocytosis, Pancytopenia, Recurrent infections, ...	OMIM:615122
Whim Syndrome 1	Bone marrow hypercellularity, Abnormal bone marrow cell morphology, Decreased circulating antibod...	OMIM:193670
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci...	OMIM:620481
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Decreased circulating a...	ORPHA:2585
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism	OMIM:183350
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg...	OMIM:617780
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent...	OMIM:615214
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	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
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel...	ORPHA:169154
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Decreased circulating IgG level, Recurrent pn...	OMIM:613502
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m...	OMIM:202700
Immunodeficiency 32B	Granulocytic hyperplasia, BCGitis, Anemia, Recurrent infections, Monocytopenia, Abnormal circulat...	OMIM:226990
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Decreased c...	OMIM:300400
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Partial absence of ...	OMIM:618986
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R...	OMIM:614493
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Anemia, Hemophagocytosis, Fever, Recurrent fever, Thrombocytopenia, Splenom...	OMIM:603552
Ethanolaminosis	Cardiomegaly	OMIM:227150
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Megakaryocyte dysplasia, Pancytopenia, Increased mean corpuscular...	OMIM:619041
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Transient...	OMIM:619707
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Transcobalamin Ii Deficiency	Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Reticulocytop...	OMIM:275350
Amegakaryocytic Thrombocytopenia, Congenital, 1	Megakaryocytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Recu...	OMIM:619281
Immunodeficiency 20	BCGitis, Recurrent otitis media, Recurrent oral herpes, Recurrent viral upper respiratory tract i...	OMIM:615707
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Recurrent otitis media, Absent isohemagglutinin level, Increased cir...	OMIM:615559
Whim Syndrome 2	Recurrent gingivitis, Myelokathexis, Chronic neutropenia, Severe infection	OMIM:619407
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Recurrent infections, Bone marrow maturation arrest, Neutropenia	OMIM:617014
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Hypoproteinemia, Increased total bi...	OMIM:603553
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Fever, Splenomegaly, Chronic active Epstein-Barr virus infection, Hyperprot...	ORPHA:158048
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
Diamond-Blackfan Anemia 18	Granulocytic hypoplasia, Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Aregenerative Anemia	Erythroid hypoplasia, Abnormal bone marrow cell morphology, Pancytopenia, Depression, Abnormal pr...	ORPHA:101096
Immunodeficiency 53	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent uri...	OMIM:617585
Reticular Dysgenesis	Sepsis, Anemia, Decreased circulating antibody level, Fever, Failure to thrive, Leukopenia, Weigh...	ORPHA:33355
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Recurrent lower re...	OMIM:619220
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro...	OMIM:619374
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Increased blood urea nitrogen, Fever, Failure to thrive, Elevated circulating creat...	OMIM:617872
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Recurrent respirat...	OMIM:300853
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Recurrent vir...	ORPHA:169079
Maternal Uniparental Disomy Of Chromosome 1	Recurrent infections, Failure to thrive, Panhypogammaglobulinemia, Pancytopenia	ORPHA:251009
Bare Lymphocyte Syndrome, Type Ii	Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Recurrent urinary tract i...	OMIM:209920
Cyclic Neutropenia	Fever, Cyclic neutropenia	OMIM:162800
Hereditary Folate Malabsorption	Pancytopenia, Recurrent urinary tract infections, Megaloblastic anemia, Decreased circulating ant...	ORPHA:90045
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elevated circulating C-reactive protein concentration, Sterile abscess, Pancytopenia, Hepatosplen...	OMIM:604416
Immunodeficiency 102	Severe varicella zoster infection, Recurrent sinusitis, Leukopenia, Increased proportion of CD8-p...	OMIM:301082
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac...	ORPHA:70592
Malaria	Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Fever, Thrombo...	ORPHA:673
Congenital Enterovirus Infection	Sepsis, Hypothermia, Anemia, Abnormal macrophage morphology, Leukocytosis, Fever, Hyperammonemia,...	ORPHA:292
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Splenome...	OMIM:308230
Primary Myelofibrosis	Abnormal megakaryocyte morphology, Anemia, Bone marrow hypercellularity, Abnormal bone marrow cel...	ORPHA:824
Trimethylaminuria	Anemia, Depression, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interferon-gamma concentration, Recurrent abscess formation, Anemia, Abnorma...	ORPHA:79124
Immunodeficiency 52	Defective T cell proliferation, Abnormal natural killer cell count, Persistent CMV viremia, Recur...	OMIM:617514
Immunodeficiency 27A	Anemia, Increased circulating IgG level, Leukocytosis, Fever, Increased circulating IgM level, He...	OMIM:209950
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased proportion of CD3-positive T cells, Reduced antigen-specific T cell proliferation, Feve...	ORPHA:331206
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Megakaryocyte nucleus hypolobulation, Re...	OMIM:614172
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Mu-Heavy Chain Disease	Anemia, Increased circulating antibody level, Abnormal bone marrow cell morphology, Fever, Spleno...	ORPHA:100024
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Recurrent lower respiratory tract infections, Megaloblastic anemia, Increas...	OMIM:620603
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Sepsis, Recurrent otitis media, Recurrent respiratory infections, Pa...	OMIM:614700
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Fever, Splenomegaly, Increased circ...	OMIM:618398
Isovaleric Acidemia	Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Lethargy	OMIM:243500
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Granuloma, Fever, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural...	OMIM:619802
Immunodeficiency 115 With Autoinflammation	Anemia, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vacc...	OMIM:620632
Autoinflammatory-Pancytopenia Syndrome	Severe Epstein Barr virus infection, Hemophagocytosis, Pancytopenia, Granuloma, Fever, Recurrent ...	OMIM:619858
Immunodeficiency 18	Defective T cell proliferation, Decreased circulating total IgM, Recurrent otitis media, Recurren...	OMIM:615615
Proteasome-Associated Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Increased circulating IgG level, B lymphoc...	OMIM:618048
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hemophagocytosis, ...	OMIM:301078
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-fetoprotein con...	OMIM:617243
X-Linked Agammaglobulinemia	Sepsis, Anemia, Hypocalcemia, Fever, Failure to thrive, Recurrent pneumonia, Thrombocytopenia, We...	ORPHA:47
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Recurrent infections, Failure to thrive, Thrombocytopenia...	OMIM:229050
Sepsis In Premature Infants	Neonatal sepsis, Anemia, Increased circulating interleukin 6 concentration, Elevated circulating ...	ORPHA:90051
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Sepsis, Anemia, Hyperammonemia, Thrombocytopenia, Lethargy, Neutropenia	ORPHA:289916
Vitamin B12-Responsive Methylmalonic Acidemia	Hyperammonemia, Failure to thrive, Anemia, Lethargy	ORPHA:28
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Abnormal circulating cytokine concentration, Anemia, Hemophagocytosis, Incr...	ORPHA:540
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Dysplastic granulopoesis, Thrombocytopenia, Bone marrow arrest at the ...	OMIM:620534
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Hyperammonemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Lethargy, Neutropenia	ORPHA:79312
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Fever, Splenomegaly, Neutropenia	ORPHA:79477
Fanconi Anemia, Complementation Group T	Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:616435
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Pancytopenia, Recurrent infections, Elevat...	OMIM:614576
Propionic Acidemia	Anemia, Pancytopenia, Hyperammonemia, Failure to thrive, Thrombocytopenia, Hyperglycinemia, Letha...	OMIM:606054
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve...	ORPHA:2643
Bone Marrow Failure Syndrome 1	Aplastic anemia, Bone marrow hypocellularity, Pancytopenia	OMIM:614675
Primary Erythromelalgia	Recurrent respiratory infections, Abnormality of thrombocytes, Hypothermia, Leukemia	ORPHA:90026
Immunodeficiency, Common Variable, 1	Recurrent otitis media, Decreased proportion of class-switched memory B cells, B lymphocytopenia,...	OMIM:607594
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypothermia, Lethargy	OMIM:615026
Bone Marrow Failure Syndrome 4	Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk...	OMIM:618116
Reticular Dysgenesis	Sepsis, Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T...	OMIM:267500
Gaucher Disease, Type Iii	Pancytopenia, Depression, Decreased body weight, Thrombocytopenia, Splenomegaly	OMIM:231000
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Methylmalonic acidemia, Anemia, Pancyt...	OMIM:251110
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal bone marrow cell mor...	ORPHA:86839
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Neutropenia	ORPHA:90023
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody...	OMIM:607271
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn...	OMIM:619767
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Recurrent infections, Reticulocytopenia, Bone marrow hypocellularity, Throm...	ORPHA:88
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Anemia, Pancytopenia, Hyperhomocystinemia, Recurrent infections, Megalobl...	OMIM:277380
Mantle Cell Lymphoma	Fever, Weight loss, Splenomegaly, Abnormal bone marrow cell morphology	ORPHA:52416
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Failure to ...	OMIM:614857
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Inappropriate absence of fever, Recurrent otitis media, Increased circulating interleukin 6 conce...	OMIM:618944
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Persistent EBV...	OMIM:614868
Hemochromatosis, Type 3	Anemia, Increased circulating iron concentration, Lymphopenia, Elevated transferrin saturation, I...	OMIM:604250
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hyperhomocystinemia, Failure ...	ORPHA:2169
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Neutropenia, Recurrent infections, B lymphocytopenia, Recurrent fever, ...	OMIM:150550
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Failure to thri...	OMIM:613845
Acute Panmyelosis With Myelofibrosis	Abnormal megakaryocyte morphology, Bone marrow hypercellularity, Acute myeloid leukemia, Increase...	ORPHA:86843
Acute Promyelocytic Leukemia	Anemia, Bone marrow hypercellularity, Pancytopenia, Leukocytosis, Fever, Leukopenia, Thrombocytop...	ORPHA:520
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Recurrent ear infections, Fever, Acute lymphoblastic leu...	ORPHA:486
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Recurrent infect...	OMIM:242900
Macrophage Activation Syndrome	Hypertriglyceridemia, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Increased cir...	ORPHA:158061
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,...	ORPHA:98850
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent bac...	OMIM:601495
Autosomal Agammaglobulinemia	Sepsis, Recurrent respiratory infections, Recurrent infections, Fever, Failure to thrive, Agammag...	ORPHA:33110
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, Bo...	OMIM:607616
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypothermia, Normochromic anemia, Elevated circulating creatine kinase concentration, Thrombocyto...	OMIM:618775
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Failure to ...	OMIM:236270
Central Diabetes Insipidus	Depression, Fever, Hyponatremia, Failure to thrive, Weight loss, Lethargy	ORPHA:178029
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, B lymphocytopenia, Increased circulating IgE level, Lack of T cell functi...	ORPHA:277
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia	OMIM:614743
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Anemia, Pancytopenia, Hyperammonemia, Failure to thrive, Thrombocytopenia...	OMIM:251100
Specific Granule Deficiency 2	Sepsis, Recurrent otitis media, Anemia, Failure to thrive, Recurrent pneumonia, Thrombocytopenia,...	OMIM:617475
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec...	OMIM:308220
Congenital Disorder Of Glycosylation, Type Iik	Unexplained fevers, Failure to thrive, Thrombocytopenia, Elevated circulating creatine kinase con...	OMIM:614727
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Chronic mucocutaneous candidiasis, Recurrent upper respiratory t...	OMIM:619752
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level, Bone marrow arrest at the promyelocytic stage, Neutropenia	OMIM:618752
Idiopathic Congenital Hypothyroidism	Hypothermia, Lethargy, Neonatal hyperbilirubinemia	ORPHA:95717
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Pulmonary Blastoma	Fever, Recurrent pneumonia, Weight loss	ORPHA:64741
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Elevated circulating C-reactive protein concentration, Recurrent lower respirat...	OMIM:619644
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Failure to thrive, Megaloblastic bone marrow, Lethargy	ORPHA:79283
Immunodeficiency 11A	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod...	OMIM:615206
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Increased blood urea ...	OMIM:614817
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Hypouricemia, Neutrope...	OMIM:613179
Ebola Hemorrhagic Fever	Sepsis, Increased circulating antibody level, Fever, Thrombocytopenia, Leukopenia, Lymphopenia, L...	ORPHA:319218
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia	OMIM:620085
Vitamin B12-Unresponsive Methylmalonic Acidemia	Anemia, Macrocytic anemia, Hyperammonemia, Thrombocytopenia, Leukopenia, Lethargy	ORPHA:27
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Decreased FOXP3-expressing T cell count, Increased circulating IgE level, Failure to thri...	OMIM:304790
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis, Fever, Hepatosplenomegaly, Recurrent bacteria...	OMIM:607624
Shwachman-Diamond Syndrome	Aplastic anemia, Macrocytic anemia, Chronic neutropenia, Bone marrow hypocellularity, Leukopenia,...	ORPHA:811
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Reduced antigen-specific T cell proliferation, T ly...	ORPHA:443811
Idiopathic Achalasia	Decreased circulating prealbumin concentration, Weight loss	ORPHA:930
N-Acetylglutamate Synthase Deficiency	Hypothermia, Hyperglutamatemia, Hyperalaninemia, Hyperammonemia, Failure to thrive, Low plasma ci...	OMIM:237310
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Abnormal leukocyte morphology, Abnormal platelet function, Hypoproteinemia,...	ORPHA:167
Homocystinuria Without Methylmalonic Aciduria	Failure to thrive, Megaloblastic bone marrow, Lethargy	ORPHA:622
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Anemia, Increased circulating antibody level, Pancytopen...	ORPHA:77259
Immunodeficiency 62	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Complete or near-c...	OMIM:618459
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ...	OMIM:608203
Dengue Fever	Hypoproteinemia, Fever, Thrombocytopenia, Leukopenia, Lethargy	ORPHA:99828
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ...	OMIM:601859
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Anemia, Leukemia, Neutropenia	OMIM:614082
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren...	OMIM:616576
Staphylococcal Necrotizing Pneumonia	Sepsis, Elevated circulating C-reactive protein concentration, Leukocytosis, Fever, Neutrophilia,...	ORPHA:36238
Disabling Pansclerotic Morphea Of Childhood	Recurrent infections, Neutropenia, Elevated circulating C-reactive protein concentration, Lymphop...	OMIM:620443
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Reduced haptoglobin level, Recurrent infections, Schistocytosis, Recurrent infection of t...	OMIM:301110
Immunodeficiency 22	Chronic oral candidiasis, Anemia, Decreased circulating IgE, Recurrent lower respiratory tract in...	OMIM:615758
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Chloramphenicol Toxicity	Aplastic anemia	OMIM:515000
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Meningococcal Meningitis	Sepsis, Hypothermia, Elevated circulating C-reactive protein concentration, Fever, Lethargy, Infe...	ORPHA:33475
Immunodeficiency, Common Variable, 2	Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu...	OMIM:240500
Thymoma	Aplastic anemia, Decreased circulating antibody level, Abnormal lymphocyte physiology, Fever, Pur...	ORPHA:99867
Aicardi-Goutieres Syndrome 4	Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pancytopenia	OMIM:610333
Methylmalonic Acidemia With Homocystinuria	Failure to thrive, Megaloblastic bone marrow, Lethargy	ORPHA:26
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ...	OMIM:619705
Thrombocytopenia 7	Impaired ADP-induced platelet aggregation, Reduced platelet alpha granules, Impaired collagen-ind...	OMIM:619130
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Myeloid leukemia	OMIM:614742
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Pancytopenia	OMIM:600546
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Anemia, Elevated circulating C-reactive protein concentration, Pancytopen...	OMIM:615688
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Hyperuricemia, Recurrent infections, Elevated circulating creatinine concentration, Neutr...	OMIM:617056
Immunodeficiency 23	Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev...	OMIM:615816
3-Hydroxy-3-Methylglutaric Aciduria	Hypothermia, Anemia, Hyperuricemia, Leukocytosis, Fever, Hyperammonemia, Leukopenia, Weight loss,...	ORPHA:20
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Reticulocytosis, Failure to thrive, Hepatosplenomegaly, Decreased mean corpuscular v...	OMIM:611590
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Dyskeratosis Congenita, Autosomal Recessive 2	Recurrent opportunistic infections, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia	OMIM:613987
Drug-Induced Lupus Erythematosus	Hematuria, Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:231111
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Recurrent lower respiratory tract in...	OMIM:618534
Fanconi-Like Syndrome	Recurrent lower respiratory tract infections, Pancytopenia	OMIM:227850
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Thrombocytopenia, Agammaglobulinemia, Recurrent bacterial infections, Absent c...	OMIM:619693
Hemochromatosis, Type 2A	Increased circulating ferritin concentration, Increased circulating iron concentration, Splenomeg...	OMIM:602390
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia	ORPHA:517
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Elevated circulating C-reactive protein concentration, Fever, Neutrophilia...	ORPHA:54251
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal megakaryocyte morphology, Bone marrow hypercellularity, Erythroid hypoplasia, Acute myel...	ORPHA:86841
Felty Syndrome	Sepsis, Anemia, Recurrent pharyngitis, Recurrent infections, Recurrent urinary tract infections, ...	ORPHA:47612
Immunodeficiency 7	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Persistent EBV vir...	OMIM:615387
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Pearson Marrow-Pancreas Syndrome	Refractory sideroblastic anemia, Anemia, Pancytopenia, Recurrent infections, Hyperbilirubinemia, ...	OMIM:557000
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia, Lethargy, Weight loss	ORPHA:79242
Eosinophilia, Familial	Anemia, Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Eosinophilia	OMIM:131400
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hyperammonemia, Failure to thrive, Thrombocytopenia, Leukopenia, Hypergly...	OMIM:251000
Agammaglobulinemia, X-Linked	Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Neutropenia, Pyoderma, Recurre...	OMIM:300755
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin concentration, Hypothermia, Lethargy, Neonatal hyperbilirubinemia	ORPHA:95716
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Failure to thrive, Thrombocytopenia, ...	OMIM:613989
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Hyperhomocystinemia, Megaloblastic anemia, Failure to thrive, Hypomethioninemia, Lethargy, Neutro...	OMIM:250940
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia	OMIM:615008
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Glutaric Acidemia Type 3	Failure to thrive, Abnormal circulating enzyme concentration, Elevated circulating glutaric acid ...	ORPHA:35706
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Increased circulating IgE level, Leukocyto...	ORPHA:2902
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Lethargy	ORPHA:26792
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Abnormal circulating IgG level, Increased ...	OMIM:300291
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
Lymphedema, Primary, With Myelodysplasia	Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Pancytopenia	OMIM:614038
Neutropenia, Severe Congenital, X-Linked	Bone marrow arrest at the promyelocytic stage, Monocytopenia, Decreased CD4:CD8 ratio, Recurrent ...	OMIM:300299
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Primary Intestinal Lymphangiectasia	Anemia, Decreased proportion of CD3-positive T cells, Hypocalcemia, Hypoproteinemia, Decreased ci...	ORPHA:90362
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Glycine Encephalopathy 1	Hyperglycinemia, Lethargy	OMIM:605899
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ...	OMIM:603909
Necrotizing Enterocolitis	Neonatal sepsis, Leukocytosis, Temperature instability, Hyponatremia, Thrombocytopenia, Small for...	ORPHA:391673
Aplastic Anemia	Aplastic anemia, Bone marrow hypocellularity	OMIM:609135
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Anemia, Hyperalaninemia, Failure to thrive, Elevated circulating acylcarnitine concentration, Abn...	OMIM:615838
Combined Oxidative Phosphorylation Deficiency 52	Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentration, Hyperglycin...	OMIM:619386
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypothermia, Hyperbilirubinemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Elevated circ...	OMIM:251880
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n...	OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Anemia, Hemolytic-...	OMIM:612925
Isolated Agammaglobulinemia	Sepsis, Anemia, Abnormal lymphocyte morphology, Fever, Failure to thrive, Thrombocytopenia, Recur...	ORPHA:229717
Babesiosis	Recurrent pharyngitis, Depression, Recurrent infections, Fever, Thrombocytopenia, Leukopenia, Spl...	ORPHA:108
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Fever, Bone...	ORPHA:3226
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El...	OMIM:300835
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Recurrent bacterial ...	OMIM:603585
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypothermia, Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, H...	ORPHA:26793
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypertaurinemia, Failure to thrive, Hyperglycinemia, Hypothermia	OMIM:245400
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Igg4-Related Aortitis	Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr...	ORPHA:449400
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Marburg Hemorrhagic Fever	Hypothermia, Increased circulating antibody level, Hypokalemia, Neutrophilia in presence of infec...	ORPHA:99826
Hyperlysinuria With Hyperammonemia	Hyperammonemia, Lethargy, Hyperlysinemia	OMIM:238750
Hatipoglu Immunodeficiency Syndrome	Recurrent otitis media, Anemia, Pancytopenia, Recurrent infections, Recurrent bronchitis, Failure...	OMIM:620331
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Recurrent fever, Splenomegaly, Pancytopenia	OMIM:614979
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ...	OMIM:155100
Vici Syndrome	Abnormal posturing, Recurrent bacterial infections, Chronic mucocutaneous candidiasis, Elevated c...	OMIM:242840
Coenzyme Q10 Deficiency, Primary, 5	Hypothermia, Hyperalaninemia	OMIM:614654
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypothermia, Lethargy	OMIM:610006
Neonatal Lupus Erythematosus	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia	ORPHA:398124
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Recurrent candida infections, Impaired T cell function, Failure to thrive, Splenomegaly, Decrease...	OMIM:201100
Omenn Syndrome	Anemia, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Failure to thrive, Severe B...	OMIM:603554
Neonatal Alloimmune Neutropenia	Sepsis, Neutropenia in presence of anti-neutropil antibodies, Temperature instability, Fever, Men...	ORPHA:464370
Schimke Immuno-Osseous Dysplasia	Anemia, Abnormal proportion of naive CD4 T cells, Recurrent infections, Abnormal lymphocyte physi...	ORPHA:1830
Focal Myositis	Fever, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Neutrophilia, Hereditary	Granulocytic hyperplasia, Neutrophilia, Splenomegaly	OMIM:162830
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent Staphylococcus aureus infections, T lymphocytopenia, Opportunistic infection, Aplasia o...	ORPHA:83471
Necrobiosis Lipoidica	Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Systemic Lupus Erythematosus 17	Fever, Recurrent fever, Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:301080
Hjv Or Hamp-Related Hemochromatosis	Elevated transferrin saturation, Increased circulating ferritin concentration, Lethargy, Abnormal...	ORPHA:79230
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Osteopetrosis, Autosomal Recessive 1	Anemia, Pancytopenia, Hypocalcemia, Failure to thrive, Thrombocytopenia, Splenomegaly	OMIM:259700
Wolcott-Rallison Syndrome	Iron deficiency anemia, Lymphocytosis, Hyperbilirubinemia, Recurrent infections, Decreased body w...	ORPHA:1667
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Pelger-Huet Anomaly	Recurrent otitis media, Giant platelets, Hyposegmentation of neutrophil nuclei, Failure to thrive...	OMIM:169400
Forsythe-Wakeling Syndrome	Decreased body weight, Thrombocytopenia	OMIM:613606
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Pancytopenia	OMIM:617341
Mucopolysaccharidosis-Plus Syndrome	Sepsis, Anemia, Recurrent bronchopulmonary infections, Bone marrow hypocellularity, Increased cir...	OMIM:617303
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Cyclic Neutropenia	Perianal abscess, Sepsis, Recurrent tonsillitis, Lymphopenia, Periodic fever, Tooth abscess, Recu...	ORPHA:2686
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Decreased serum creatinine, Fever, Thrombocytopenia, Microangiopathic hemolytic ...	ORPHA:54057
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Sepsis, Iron deficiency anemia, Recurrent respiratory infections, Re...	ORPHA:37042
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Failure to thrive, Lethargy	OMIM:613561
Tularemia	Anemia, Increased circulating antibody level, Leukocytosis, Fever, Thrombocytopenia, Cutaneous ab...	ORPHA:3392
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Pancytopenia, Splenomegaly, Failure to thrive in infancy, Recurrent respiratory infections, Decre...	OMIM:613385
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Rec...	OMIM:301000
Classic Glucose Transporter Type 1 Deficiency Syndrome	Abnormal erythrocyte morphology, Lethargy	ORPHA:71277
Bone Marrow Failure Syndrome 3	Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,...	OMIM:617052
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Selective Igm Deficiency	Decreased proportion of CD3-positive T cells, Decreased proportion of transitional B cells, Recur...	ORPHA:331235
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia	ORPHA:88643
Bangstad Syndrome	Small for gestational age, Pancytopenia	OMIM:210740
Neuroleptic Malignant Syndrome	Hyperkalemia, Sepsis, Hypothermia, Hyperuricemia, Hypocalcemia, Leukocytosis, Elevated circulatin...	ORPHA:94093
Shwachman-Diamond Syndrome 1	Anemia, Acute myeloid leukemia, Pancytopenia, Recurrent infections, Persistence of hemoglobin F, ...	OMIM:260400
Hyperinsulinism Due To Hnf1A Deficiency	Large for gestational age, Increased C-peptide level, Decreased circulating free fatty acid level...	ORPHA:324575
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Lig4 Syndrome	Pancytopenia, Failure to thrive, Acute lymphoblastic leukemia, Thrombocytopenia, Recurrent respir...	OMIM:606593
Relapsing Fever	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased total bili...	ORPHA:91547
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Anemia, Increased circulating antibody level, Recurrent infections, Failure...	OMIM:617591
Immunodeficiency 40	Chronic oral candidiasis, Recurrent otitis media, Severe varicella zoster infection, Eosinophilic...	OMIM:616433
Thrombocytopenia 9	Thrombocytopenia, Abnormal platelet aggregation	OMIM:620478
Carnitine-Acylcarnitine Translocase Deficiency	Hypothermia, Decreased circulating carnitine concentration, Elevated creatine kinase after exerci...	ORPHA:159
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hyperhomocystinemia, Recurrent infections, Megaloblastic anemia, Elevated circulating palmitoleyl...	ORPHA:79284
Trichothiodystrophy 3, Photosensitive	Recurrent infections, Increased circulating IgA level, Failure to thrive, Lymphopenia, Neutropenia	OMIM:616395
Rhabdoid Tumor	Anemia, Fever, Hypercalcemia, Thrombocytopenia, Weight loss	ORPHA:69077
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Pneumocystosis	Chronic oral candidiasis, Increased circulating antibody level, Abnormal neutrophil count, Fever,...	ORPHA:723
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Hemophagocytosis, Increase...	OMIM:267700
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Griscelli Syndrome	Abnormal circulating lipid concentration, Decreased circulating antibody level, Fever, Bone marro...	ORPHA:381
Hereditary Central Diabetes Insipidus	Fever, Lethargy, Weight loss	ORPHA:30925
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hyperammonemia, Elevated circulating creatine kinase concentration, Lethargy	OMIM:618120
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Increased C-peptide level, Decreased circulating free fatty acid level...	ORPHA:276556
Autoinflammatory Disease, Systemic, X-Linked	B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate...	OMIM:301081
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Reduced haptoglobin level, Hyperbilirubinemia, Anemia of inadequate p...	OMIM:613673
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Increased circulating ferritin concentration, Thrombocytopenia, Hepa...	ORPHA:210136
Developmental And Epileptic Encephalopathy 40	Small for gestational age, Lethargy	OMIM:617065
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Weight loss	ORPHA:100083
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Fever, Neutrophilia, Weight ...	ORPHA:1302
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent low...	OMIM:600802
Aspergillosis	Invasive pulmonary aspergillosis, Increased circulating IgE level, Fever, Unusual CNS infection, ...	ORPHA:1163
Multicentric Reticulohistiocytosis	Fever, Cachexia, Histiocytosis	ORPHA:139436
Slc35A1-Cdg	Abnormal megakaryocyte morphology, Giant platelets, Abnormal platelet granules, Thrombocytopenia,...	ORPHA:238459
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Thrombocytopenia, Lethargy	ORPHA:49827
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:598500
Aicardi-Goutieres Syndrome 7	Anemia, Increased circulating antibody level, Recurrent lower respiratory tract infections, Pancy...	OMIM:615846
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia	OMIM:124900
Aicardi-Goutieres Syndrome 6	Increased circulating Interferon-alpha concentration, Thrombocytopenia, Splenomegaly, Hemolytic a...	OMIM:615010
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent r...	ORPHA:35078
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Hermansky-Pudlak Syndrome 2	Recurrent abscess formation, Absent platelet dense granules, Chronic oral candidiasis, Recurrent ...	OMIM:608233
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Bone marrow hypocellularity, Failure to thrive, Thrombocytopen...	OMIM:614520
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Increased C-peptide level, Decreased circulating free fatty acid level...	ORPHA:276575
Coenzyme Q10 Deficiency, Primary, 1	Anemia, Elevated circulating creatine kinase concentration, Pancytopenia	OMIM:607426
Menkes Disease	Hypothermia, Decreased circulating ceruloplasmin concentration	OMIM:309400
Early Myoclonic Encephalopathy	Recurrent respiratory infections, Lethargy	ORPHA:1935
Dyskeratosis Congenita, Autosomal Dominant 6	Aplastic anemia, Bone marrow hypocellularity, Pancytopenia	OMIM:616553
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Elevated circulating C-reactive protein concentration, Increased proportion of CD4-positive T cel...	OMIM:617099
Transaldolase Deficiency	Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Smal...	OMIM:606003
Dihydropyrimidine Dehydrogenase Deficiency	Failure to thrive, Lethargy	OMIM:274270
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Bone marrow hypocellularity, Leukopenia...	OMIM:613990
Alpha-Mannosidosis, Adult Form	Pancytopenia, Depression, Recurrent infections, Hepatosplenomegaly, Recurrent gastroenteritis	ORPHA:309288
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Fetal Gaucher Disease	Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Pancytopenia	ORPHA:85212
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Failure to thrive, Thrombocytopenia,...	OMIM:619151
Hypercalcemia, Infantile, 1	Failure to thrive, Hypercalcemia, Lethargy, Weight loss	OMIM:143880
Pyruvate Dehydrogenase E3 Deficiency	Decreased circulating carnitine concentration, Hyperisoleucinemia, Hyperammonemia, Elevated circu...	ORPHA:2394
Insulin Autoimmune Syndrome	Increased circulating antibody level, Weight loss	ORPHA:411593
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Recurrent candida infections, Sepsis, Recurrent lower respiratory tr...	ORPHA:436159
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Herpes simplex encephalitis, Meningitis, Lethargy	OMIM:617900
Boutonneuse Fever	Increased circulating IgG level, Fever, Increased circulating IgM level, Thrombocytopenia, Leukop...	ORPHA:83313
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl...	OMIM:173590
Barth Syndrome	Recurrent infections in infancy and early childhood, Hypochromic microcytic anemia, Recurrent bro...	OMIM:302060
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypothermia, Hyperhomocystinemia, Megaloblastic anemia, Elevated circulat...	ORPHA:79282
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cachexia, Elevated circulating creatine kinase concentration, Hyperammonemia, Decreased plasma to...	ORPHA:42
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Depression, Leukocytosis, Fever, Hyponatremia, Thrombocytopenia	ORPHA:83601
Bleeding Disorder, Platelet-Type, 22	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb...	OMIM:618462
Timothy Syndrome	Hypocalcemia, Recurrent infections, Hypothermia	OMIM:601005
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin...	OMIM:210250
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Increased serum pyruvate, Hyperalaninemia, Lethargy	OMIM:312170
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Increased C-peptide level, Lethargy	ORPHA:276580
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Failure to thrive in infancy, Hyperprolinemia, Hyperalaninemia, Lethargy	OMIM:619064
Ziegler-Huang Syndrome	Macrocytic anemia, Megakaryocytopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, ...	OMIM:620501
Dystonia 31	Abnormal posturing, Depression	OMIM:619565
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Lethargy	OMIM:246900
Erythroleukemia, Familial, Susceptibility To	Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia	OMIM:133180
Atelis Syndrome 1	Anemia, Recurrent infections, Thrombocytopenia, Leukopenia, Decreased lymphocyte proliferation in...	OMIM:620184
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Elevated circulating C-reactive protein concentration, Recurren...	OMIM:610377
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin concentration, Hypothermia, Lethargy	ORPHA:226316
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Febrile Infection-Related Epilepsy Syndrome	Fever, Lethargy	ORPHA:163703
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Fever, Weight loss, Splenomegaly, Abnormal bone marrow cell morphology	ORPHA:86893
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hyperammonemia, Elevated circulating creatine kinase concentration, Lethargy	OMIM:600649
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Isolated Thyroid-Stimulating Hormone Deficiency	Hypothermia, Depression, Abnormal circulating thyroglobulin concentration, Failure to thrive, Neo...	ORPHA:90674
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Bone marrow hypercellularity, Incr...	ORPHA:470
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Splenomegaly, Conjugated hyperbilirubin...	OMIM:269920
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia	OMIM:619170
Beta-Thalassemia	Abnormality of temperature regulation, Abnormality of iron homeostasis, Anemia, Thrombocytopenia,...	ORPHA:848
Tafro Syndrome	Anemia, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protei...	ORPHA:457077
Immunodeficiency 83, Susceptibility To Viral Infections	Herpes simplex encephalitis, Meningitis, Lethargy	OMIM:613002
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Hereditary Renal Hypouricemia	Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Uric acid urolithiasis inde...	ORPHA:94088
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Sepsis, Macrocytic anemia, Hyperuricemia, Hyponatremia, Failure to thrive, Hyp...	ORPHA:199299
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Prolidase Deficiency	Anemia, Increased circulating antibody level, Recurrent infections, Failure to thrive, Recurrent ...	OMIM:170100
Diffuse Alveolar Hemorrhage	Anemia, Leukocytosis, Fever, Thrombocytopenia, Weight loss, Elevated circulating creatinine conce...	ORPHA:90060
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Elevated circulating creatine kinase concentration...	OMIM:212140
Poikiloderma With Neutropenia	Recurrent otitis media, Elevated circulating creatine kinase concentration, Recurrent bronchopulm...	OMIM:604173
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Small for...	OMIM:227645
Indolent Systemic Mastocytosis	Splenomegaly, Abnormal mast cell morphology, Increased proportion of CD25+ mast cells, Mastocytosis	ORPHA:98848
Cog4-Cdg	Neonatal sepsis, Recurrent infection of the gastrointestinal tract, Thrombocytopenia, Hepatosplen...	ORPHA:263501
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Impaired neutrophil bactericidal activity, Splenomegaly, Spontan...	OMIM:613470
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin concentration, Hypothermia, Lethargy, Neonatal hyperbilirubin...	ORPHA:90673
Paroxysmal Nocturnal Hemoglobinuria	Anemia, Reduced haptoglobin level, Pancytopenia, Abnormal erythrocyte enzyme concentration or act...	ORPHA:447
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Lethargy	OMIM:618225
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Hyperammonemia, Episodic ammonia intoxication, Failure to thrive, Low plasma citrulline, Lethargy...	OMIM:237300
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Eosinophilic Gastroenteritis	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Weight...	ORPHA:2070
Avian Influenza	Sepsis, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina...	ORPHA:454836
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Small for gestational age, Leukemia, N...	OMIM:600901
Chediak-Higashi Syndrome	Anemia, Hemophagocytosis, Recurrent infections, Recurrent systemic pyogenic infections, Recurrent...	OMIM:214500
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc...	OMIM:615952
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Neonatal death, Hypertrophic cardiomyopathy	OMIM:614096
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Increased blood urea nitrogen,...	OMIM:274150
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase...	OMIM:235400
Osteopetrosis, Autosomal Recessive 2	Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259710
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy	ORPHA:85447
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hyperammonemia, Small for gestational age, Neutropenia	OMIM:618253
Inflammatory Pseudotumor Of The Liver	Fever, Increased hepatitis B virus antibody level, Weight loss	ORPHA:90003
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Dyskeratosis Congenita, Autosomal Recessive 3	Bone marrow hypocellularity, Pancytopenia	OMIM:613988
Whim Syndrome	Sepsis, Bone marrow hypercellularity, Decreased circulating antibody level, Abnormal neutrophil m...	ORPHA:51636
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Small for gestational age, Leukemia, N...	OMIM:227650
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hyperalaninemia, Hyperammonemia, Acute hyperammonemia, Failure to thrive, Hyperglutaminemia, Leth...	ORPHA:927
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Increased circulating interleukin 6 concentration, Thrombocytosis, Iron deficie...	OMIM:301074
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Hypoalbuminemi...	OMIM:617021
Transaldolase Deficiency	Anemia, Increased serum bile acid concentration, Abnormal circulating glutamine concentration, Th...	ORPHA:101028
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia, Decreased circulating IgG level, Failure to thrive, Recurrent pneumonia, Recurrent ...	OMIM:607143
Dihydropyrimidinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating thymine concentration, F...	OMIM:222748
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, Megakaryocyte dysplasia, Recurrent lower respiratory tract infections, B lymphocytopenia,...	ORPHA:508542
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Hyperphenylalaninemia, Bh4-Deficient, B	Recurrent fever, Hyperphenylalaninemia, Lethargy	OMIM:233910
Livedoid Vasculopathy	Abnormal circulating lipid concentration, Anemia, Pancytopenia, Hyperhomocystinemia, Leukocytosis...	ORPHA:542643
Osteopetrosis, Autosomal Recessive 5	Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinemia, Leukocytos...	OMIM:259720
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Recurrent res...	OMIM:620565
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Diamond-Blackfan Anemia 4	Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia	OMIM:612527
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Anemia, Elevated circulating C-reactive protein concent...	ORPHA:829
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia	OMIM:616176
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Sepsis, Neonatal sepsis, Anemia, Erythroid hypoplasia, Recurrent lower respirat...	OMIM:612541
Citrullinemia Type I	Hyperammonemia, Elevated plasma citrulline, Failure to thrive, Lethargy	ORPHA:247525
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Fever, Abnormal granulocyte morphology, Thrombocytopen...	ORPHA:521
Systemic Mastocytosis With Associated Hematologic Neoplasm	Granulocytic hyperplasia, Normocytic anemia, Bone marrow hypercellularity, Acute myeloid leukemia...	ORPHA:98849
Gaucher Disease Type 3	Anemia, Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splenomegaly, Recur...	ORPHA:77261
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Pyoderma, Aplasia of the thymus, Recurrent bronchopulmonary inf...	OMIM:242700
Dyskeratosis Congenita, Autosomal Recessive 8	B lymphocytopenia, Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia	OMIM:620133
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia	OMIM:224230
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy	OMIM:618224
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Recurrent fever, Increased circulating ferritin concentration, Congenital t...	OMIM:618886
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane...	OMIM:277410
Immunodeficiency 96	Defective T cell proliferation, Decreased circulating total IgM, Recurrent otitis media, Recurren...	OMIM:619774
Acute Monoblastic/Monocytic Leukemia	Anemia, Bone marrow hypercellularity, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Feve...	ORPHA:514
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia, Protein...	ORPHA:251004
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hyperammonemia, Failure to thrive, Hyperornithinemia, Lethargy	OMIM:238970
Spontaneous Periodic Hypothermia	Hypothermia	ORPHA:29822
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Megakaryocytopenia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Zika Virus Disease	Fever, Increased circulating IgM level, Thrombocytopenia, Meningitis, Infectious encephalitis	ORPHA:448237
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Hypothermia, Hyperalaninemia, Failure to thrive	OMIM:618329
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Developmental And Epileptic Encephalopathy 78	Hypothermia	OMIM:618557
Pearson Syndrome	Anemia, Hypokalemia, Pancytopenia, Hypocalcemia, Abnormal bone marrow cell morphology, Hyperalani...	ORPHA:699
Osteopetrosis With Renal Tubular Acidosis	Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Bone marr...	ORPHA:2785
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Recurrent fever, Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Gaucher Disease, Type I	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Gaucher Disease	Decreased HDL cholesterol concentration, Anemia, Increased circulating antibody level, Elevated c...	ORPHA:355
Dopamine Beta-Hydroxylase Deficiency	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hypothermia, Anemia	ORPHA:230
Immunodeficiency 108 With Autoinflammation	Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Diffuse Neonatal Hemangiomatosis	Hypercalcemia, Thrombocytopenia, Anemia	ORPHA:2123
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating creatine kinase concentration, Hyperammonemia, Failure to thrive, Small for ...	OMIM:609015
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Pancytopenia, Recurrent infections, Neutropenia in presence of anti-neutropil antibodies, Hepatos...	ORPHA:228426
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Increased circulating ferritin concentration, Hypochromic microcytic anemia, He...	ORPHA:3240
Combined Oxidative Phosphorylation Deficiency 2	Small for gestational age, Lethargy	OMIM:610498
Immunodeficiency 47	Decreased circulating total IgG, Normocytic anemia, Decreased circulating copper concentration, A...	OMIM:300972
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa...	OMIM:620486
Huntington Disease-Like 2	Bradykinesia, Depression, Inertia, Weight loss, Apathy	OMIM:606438
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Highly elevated creatine kinase, Microcytic anemia, Elevated circulating creatine kinase concentr...	OMIM:251900
Familial Hypoaldosteronism	Hyperkalemia, Increased circulating renin level, Hyponatremia, Recurrent fever, Failure to thrive...	ORPHA:427
Preeclampsia	Thrombocytopenia, Helicobacter pylori infection, Elevated circulating creatinine concentration, S...	ORPHA:275555
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy	OMIM:618683
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Increased circulating IgG level, R...	OMIM:615934
Vexas Syndrome	Megakaryocyte dysplasia, Elevated circulating C-reactive protein concentration, Macrocytic anemia...	OMIM:301054
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Failure to thrive, Hyperlipidemia, Lethargy	ORPHA:2089
Pfapa Syndrome	Abnormality of temperature regulation, Recurrent pharyngitis, Splenomegaly, Weight loss, Infectio...	ORPHA:42642
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Increased mean platelet...	OMIM:617443
Adult Acute Respiratory Distress Syndrome	Abnormality of tumor necrosis factor secretion, Abnormal circulating interleukin concentration, I...	ORPHA:70578
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Fever, Lethargy	ORPHA:101150
Typhoid	Fever, Splenomegaly, Infectious encephalitis, Lethargy	ORPHA:99745
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia, Lethargy	OMIM:253270
Severe Canavan Disease	Lethargy	ORPHA:314911
Mast Cell Sarcoma	Splenomegaly, Mastocytosis	ORPHA:66661
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Thrombocytopenia	ORPHA:67048
Hepatoportal Sclerosis	Anemia, Recurrent infections, Hyperbilirubinemia, Thrombocytopenia, Leukopenia, Splenomegaly, Hyp...	ORPHA:64743
Ménétrier Disease	Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Helicobacter pylori infection, Hypoa...	ORPHA:2494
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Urinary excretion o...	OMIM:256550
Lig4 Syndrome	Acute leukemia, Leukocytosis, Abnormal bone marrow cell morphology, Pancytopenia	ORPHA:99812
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Decrea...	ORPHA:247585
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Recurrent fever, Lethargy, Pancytopenia	OMIM:618321
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Recurrent otitis media, Anemia, Pancytopenia, Obesity, Thrombocytopenia, Leukopenia, Lymphopenia,...	OMIM:620654
Letterer-Siwe Disease	Anemia, Fever, Thrombocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Splenomegaly, Weight loss, Elevated transferrin saturation, Incr...	ORPHA:465508
Classic Galactosemia	Depression, Sepsis, Abnormal erythrocyte enzyme concentration or activity, Lethargy	ORPHA:79239
Acquired Purpura Fulminans	Sepsis, Thrombocytopenia, Elevated circulating C-reactive protein concentration	ORPHA:49566
Bernard-Soulier Syndrome	Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag...	OMIM:231200
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly	ORPHA:721
Aicardi-Goutieres Syndrome 5	Increased circulating interferon-gamma concentration, Thrombocytopenia	OMIM:612952
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularity, Leukopen...	OMIM:127550
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Encephalitis Lethargica	Fever, Recurrent viral infections, Increased circulating antibody level, Lethargy	ORPHA:83600
Good Syndrome	Anemia, Recurrent urinary tract infections, Abnormal leukocyte morphology, Decreased circulating ...	ORPHA:169105
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Bone m...	OMIM:301310
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Failure to thrive, Head titubation, Lethargy	OMIM:250620
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Refractory anemia	OMIM:231095
Acute Lung Injury	Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, A...	ORPHA:178320
Renal Hypoplasia, Bilateral	Hyperkalemia, Anemia, Hyponatremia, Failure to thrive, Small for gestational age, Lethargy	ORPHA:97362
Combined Oxidative Phosphorylation Deficiency 10	Hyperalaninemia, Hypertrophic cardiomyopathy, Pericardial effusion, Hyperammonemia, Cardiomegaly	OMIM:614702
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	OMIM:619051
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Abnormal megakaryocyte morphology, Anemia of inadequate production, Poikilocytosis, Anisocytosis,...	ORPHA:67044
Leukoencephalopathy With Vanishing White Matter 1	Fever, Lethargy	OMIM:603896
Pontocerebellar Hypoplasia, Type 6	Failure to thrive, Lethargy	OMIM:611523
Fanconi Anemia, Complementation Group D2	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Small for...	OMIM:227646
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Immunodeficiency 31C	Autoimmune hemolytic anemia, Chronic oral candidiasis, Impaired lymphocyte transformation with ph...	OMIM:614162
Resistance To Thyrotropin-Releasing Hormone Syndrome	Depression, Abnormal circulating thyroglobulin concentration, Overweight, Lethargy	ORPHA:99832
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Anemia, Leukocytosis, Fever, Weight loss, Hypoalbuminemia	ORPHA:67
Follicular Lymphoma	Fever, Meningitis, Splenomegaly, Weight loss	ORPHA:545
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Failure to thrive, Thrombocytopenia, Hypoalbuminemia, Elevated circulating creatinine con...	OMIM:608104
Undifferentiated Pleomorphic Sarcoma	Fever, Weight loss	ORPHA:2023
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypothermia	OMIM:616501
Mitochondrial Complex I Deficiency, Nuclear Type 6	Failure to thrive, Lethargy	OMIM:618228
Lethal Infantile Mitochondrial Myopathy	Lethargy	ORPHA:254857
Bacterial Toxic-Shock Syndrome	Sepsis, Hypocalcemia, Recurrent urinary tract infections, Increased circulating myelocyte count, ...	ORPHA:36234
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Granulocytic hypoplasia, Neutropenia	OMIM:614900
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Anemia, Abnormal bone marrow cell morphology, Recurrent respiratory ...	ORPHA:100026
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Hypothermia	OMIM:614498
Sarcoidosis, Susceptibility To, 1	Increased circulating antibody level, Pancytopenia, Fever, Splenomegaly, Weight loss, Abnormality...	OMIM:181000
Combined Immunodeficiency Due To Crac Channel Dysfunction	Sepsis, Fever, Recurrent viral infections, Thrombocytopenia, Splenomegaly, Recurrent mycobacteria...	ORPHA:169090
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Abnormality of temperature regulation, Hypothermia, Fever, Obesity, Recurrent pneumonia	OMIM:618493
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Recurrent infections, Hyperalaninemia, Hyperammonemia, Failure to thrive, Small for gestational a...	OMIM:615471
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hypertriglyceridemia, Severe cytomegalovirus infection, Sepsis, Hypo...	OMIM:619573
Congenital Toxoplasmosis	Cardiomegaly, Thrombocytopenia, Hepatomegaly, Anemia	ORPHA:858
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Granuloma, Hepatosplenomegaly, Splenomegaly, Abscess, Lymphopenia, Impaired oxi...	OMIM:618935
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Defective T cell proliferation, Increased circulating IgG level, Increased circ...	OMIM:618213
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight, Lethargy	ORPHA:276608
Scrub Typhus	Fever, Splenomegaly, Meningitis, Lethargy, Infectious encephalitis	ORPHA:83317
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hyperhomocystinemia, Megaloblastic anemia, Cystathioninemia, Failure to t...	OMIM:277400
Mitochondrial Complex I Deficiency, Nuclear Type 5	Failure to thrive, Lethargy	OMIM:618226
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Decreased circulating carnitine concentration, Abnormal circulating acylcarnitine concentration, ...	ORPHA:71212
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Leukopenia, Abnormal platelet aggregation	OMIM:614171
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Hypothermia	ORPHA:226313
Isolated Congenital Hypoglossia/Aglossia	Weight loss	ORPHA:141152
Mirage Syndrome	Hyperkalemia, Sepsis, Anemia, Recurrent urinary tract infections, Decreased body weight, Hyponatr...	OMIM:617053
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Lethargy, Hyperammonemia, Elevated circulating creatine kinase concentration, Decreased circulati...	OMIM:201475
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration	OMIM:618838
Classic Hodgkin Lymphoma	Fever, Bone marrow hypocellularity, Splenomegaly, Weight loss	ORPHA:391
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Low-grade fever, Weight loss	ORPHA:1164
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Normocytic anemia, Renal tubular epithelial necrosis, Hematuria, Elevated ci...	ORPHA:49041
Cohen Syndrome	Childhood-onset truncal obesity, Leukopenia, Small for gestational age, Neutropenia	OMIM:216550
Brucellosis	Lung abscess, Liver abscess, Anemia, Elevated circulating C-reactive protein concentration, Abnor...	ORPHA:1304
Multiple Myeloma	Anemia, Increased circulating IgG level, Increased circulating IgA level, Decreased circulating a...	ORPHA:29073
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Fever, Anemia, Weight loss, Elevated circulating C-reactive protein concentration	ORPHA:324964
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circula...	ORPHA:103910
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Leukocytosis, Fever, Hyponatremia, Neutrop...	ORPHA:1930
Huntington Disease-Like 1	Abnormal posturing, Weight loss, Depression, Bradykinesia	ORPHA:157941
Chronic Hiccup	Depression, Weight loss	ORPHA:396
Carnitine Palmitoyltransferase I Deficiency	Hyperammonemia, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Let...	OMIM:255120
Overlap Myositis	Abnormal circulating lipid concentration, Elevated circulating creatine kinase concentration, Thr...	ORPHA:206572
Rajab Interstitial Lung Disease With Brain Calcifications 1	Anemia, Pancytopenia, Hypocalcemia, Recurrent urinary tract infections, Unconjugated hyperbilirub...	OMIM:613658
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Bone-marrow foam cells, In...	OMIM:278000
Cystic Echinococcosis	Increased circulating antibody level, Splenic cyst, Hyperbilirubinemia, Invasive parasitic infect...	ORPHA:400
Attrv122I Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo...	ORPHA:85451
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Increased circulating IgG level, Leukocytosis, Elevated circulating creatine kinase...	ORPHA:99827
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Pancytopenia, Recurrent infections, Granuloma, Autoimmune thrombocyt...	ORPHA:1855
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl...	OMIM:185070
Kikuchi-Fujimoto Disease	Anemia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Leukopenia, Splenom...	ORPHA:50918
Idiopathic Intracranial Hypertension	Depression, Obesity, Lethargy	ORPHA:238624
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
3-Methylglutaconic Aciduria, Type Viib	Recurrent infections, Recurrent pneumonia, Thrombocytopenia, Leukopenia, Bone marrow maturation a...	OMIM:616271
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased mean platelet vol...	OMIM:617718
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Beta-Ketothiolase Deficiency	Hyperuricemia, Leukocytosis, Fever, Hyperammonemia, Weight loss, Thrombocytosis, Apathy	ORPHA:134
Galactose Epimerase Deficiency	Splenomegaly, Weight loss	ORPHA:79238
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Elevated circulating creatine k...	OMIM:300280
Isolated Atp Synthase Deficiency	Hyperammonemia, Hyperalaninemia, Lethargy	ORPHA:254913
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypercellularity, Increased circulating antibody level, Lymphocytosis, Reticulocytosi...	ORPHA:3261
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypothermia	ORPHA:168593
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Wiskott-Aldrich Syndrome	Acute leukemia, Sepsis, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypop...	ORPHA:906
Majeed Syndrome	Hypochromic microcytic anemia, Abnormal bone marrow cell morphology, Cachexia, Leukocytosis, Feve...	ORPHA:77297
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Failure to thrive, Lethargy	OMIM:210200
Infantile Liver Failure Syndrome 2	Hyperammonemia, Lethargy	OMIM:616483
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Pancytopenia	ORPHA:85321
Acyl-Coa Dehydrogenase 9 Deficiency	Decreased circulating carnitine concentration, Elevated creatine kinase after exercise, Hyperammo...	ORPHA:99901
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Depression, Failure to thrive, Weight lo...	OMIM:212750
Acquired Partial Lipodystrophy	Lymphocytosis, Microscopic hematuria, Proteinuria	ORPHA:79087
Uremic Pruritus	Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo...	ORPHA:94059
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Temp...	OMIM:620306
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Thrombocytopenia, Anemia, Splenomegaly	OMIM:615085
Polyarteritis Nodosa	Fever, Weight loss, Elevated circulating C-reactive protein concentration	ORPHA:767
Smith-Kingsmore Syndrome	Large for gestational age, Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Noonan Syndrome 12	Thrombocytopenia, Lymphopenia	OMIM:618624
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Obesity, Decreased proportion of CD4-positive helper T cells, Recurrent upp...	ORPHA:66628
Multiple Mitochondrial Dysfunctions Syndrome 1	Failure to thrive, Hyperglycinemia, Elevated circulating 2-hydroxybutyric acid concentration, Let...	OMIM:605711
Immunodeficiency 82 With Systemic Inflammation	Recurrent abscess formation, Decreased circulating total IgG, Recurrent otitis media, Anemia, Ele...	OMIM:619381
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Progressive Nodular Histiocytosis	Fever, Cachexia	ORPHA:158022
Mccune-Albright Syndrome	Bone marrow hypocellularity, Hypophosphatemia, Pancytopenia	ORPHA:562
Carnitine Palmitoyl Transferase 1A Deficiency	Transient hyperlipidemia, Lethargy	ORPHA:156
Sweet Syndrome	Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Anemia, Chronic lympha...	ORPHA:3243
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Decreased body weight, Neutropenia	OMIM:609053
46,Xy Sex Reversal 4	Increased blood urea nitrogen, Ureteropelvic junction obstruction, Elevated circulating creatinin...	OMIM:154230
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Psoriasis 14, Pustular	Fever, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:614204
Alg12-Cdg	Sepsis, Recurrent pharyngitis, Partial absence of specific antibody response to Haemophilus influ...	ORPHA:79324
Neuroblastoma	Anemia, Fever, Thrombocytopenia, Weight loss, Increased circulating ferritin concentration	ORPHA:635
Familial Atrial Myxoma	Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma	ORPHA:615
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Obesity, Decreased proportion of CD4-positive helper T cells, Recurrent upp...	ORPHA:179494
Carnitine-Acylcarnitine Translocase Deficiency	Hyperammonemia, Elevated circulating creatine kinase concentration, Lethargy	OMIM:212138
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Sepsis, Neutropenia in presence of anti-neutropil antibodies, B lymp...	ORPHA:231154
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Dubowitz Syndrome	Aplastic anemia, Recurrent infections, Decreased circulating IgG level, Acute lymphoblastic leuke...	OMIM:223370
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co...	OMIM:608836
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Hypothermia, Lethargy	OMIM:218700
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hypophosphatemic rickets, Increased body weight, Abnormal circulating ...	ORPHA:263455
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Recurrent tonsillitis, Increased circulating renin level, Hyponatremia, Recurrent u...	ORPHA:171876
Cartilage-Hair Hypoplasia	Susceptibility to chickenpox, Impaired lymphocyte transformation with phytohemagglutinin, Anemia,...	OMIM:250250
Shwachman-Diamond Syndrome 2	Normocytic anemia, Recurrent infections, Failure to thrive, Thrombocytopenia, Neutropenia	OMIM:617941
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic...	ORPHA:228308
Castleman Disease	Increased circulating interleukin 6 concentration, Anemia, Elevated circulating C-reactive protei...	ORPHA:160
Huntington Disease	Bradykinesia, Decreased body mass index, Depression, Abnormal circulating cholesterol concentrati...	ORPHA:399
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased circulating IgG level, I...	ORPHA:2298
Orthostatic Hypotension 1	Increased blood urea nitrogen, Hypomagnesemia, Nocturia, Elevated circulating dihydroxyphenylacet...	OMIM:223360
Fanconi Anemia, Complementation Group P	Anemia, Pancytopenia	OMIM:613951
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Sickle Cell Disease	Hepatomegaly, Hematuria, Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Cardiomega...	OMIM:603903
Pseudo-Torch Syndrome 2	Thrombocytopenia, Lethargy	OMIM:617397
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Wilson Disease	Anemia, Depression, Increased body weight, Failure to thrive, Thrombocytopenia, Splenomegaly, Wei...	ORPHA:905
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hyperglycinemia, Lethargy	OMIM:614299
Postinfectious Vasculitis	Severe cytomegalovirus infection, Recurrent candida infections, Persistent human papillomavirus i...	ORPHA:48435
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Crigler-Najjar Syndrome	Lethargy, Infectious encephalitis	ORPHA:205
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Q Fever	Anemia, Increased circulating antibody level, Granuloma, Fever, Hepatosplenomegaly, Splenomegaly,...	ORPHA:781
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Developmental Delay, Hypotonia, And Impaired Language	Recurrent pneumonia, Neutropenia	OMIM:620012
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal ph...	OMIM:266500
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement	OMIM:614473
Tbck-Related Intellectual Disability Syndrome	Abnormal circulating lipid concentration, Hypothermia, Bipolar affective disorder	ORPHA:488632
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia	ORPHA:445038
Diamond-Blackfan Anemia 7	Recurrent otitis media, Macrocytic anemia, Increased mean corpuscular volume, Recurrent infection...	OMIM:612562
Tick-Borne Encephalitis	Abnormal circulating cytokine concentration, Elevated circulating C-reactive protein concentratio...	ORPHA:297
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Elevated circulating L-alloisoleuci...	OMIM:248600
Rheumatoid Arthritis	Fever, Weight loss, Elevated circulating C-reactive protein concentration	OMIM:180300
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Long-Olsen-Distelmaier Syndrome	Hyperammonemia, Secundum atrial septal defect, Cardiomegaly, Dilated cardiomyopathy, Ventricular ...	OMIM:620609
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Seckel Syndrome 1	Pancytopenia	OMIM:210600
Alg8-Cdg	Anemia, Hyponatremia, Failure to thrive, Thrombocytopenia, Small for gestational age	ORPHA:79325
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Recurrent otitis media, Recurrent lower respiratory tract infections, Leukocytosis, Failure to th...	OMIM:620233
Citrullinemia, Classic	Elevated plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Failure to thrive, Hyp...	OMIM:215700
Revesz Syndrome	Aplastic anemia, Bone marrow hypocellularity, Macrocytic anemia, Neutropenia	OMIM:268130
Cirrhosis, Familial	Fever, Increased level of propylene glycol in blood, Lethargy	OMIM:215600
Autoinflammatory Disease, Systemic, With Vasculitis	Anemia, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protei...	OMIM:620376
Fusariosis	Lung abscess, Onychomycosis, Brain abscess, Granuloma, Invasive fungal infection, Fever, Abnormal...	ORPHA:228119
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Lethargy	OMIM:604377
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Anemia, Weight loss, Hyperalaninemia	ORPHA:298
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Decreased circulating carnitine concentration, Hyperleucinemia, Hyperammonemia, Acute hyperammone...	OMIM:210210
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Myelofibrosis, Absence of alpha granules, Impa...	OMIM:187900
Stt3B-Cdg	Failure to thrive, Thrombocytopenia	ORPHA:370924
Pyomyositis	Sepsis, Recurrent infections, Leukocytosis, Fever, Weight loss, Recurrent cutaneous abscess forma...	ORPHA:764
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Fetal Cytomegalovirus Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Conjugated hyperbilirubinemia	ORPHA:294
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Cockayne Syndrome Type 1	Hepatomegaly, Anemia, Increased blood urea nitrogen, Proteinuria, Renal insufficiency	ORPHA:90321
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys...	OMIM:223900
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Thrombocytopenia	OMIM:615597
Hemochromatosis, Type 1	Hepatomegaly, Cardiomyopathy, Increased circulating iron concentration, Splenomegaly, Cardiomegal...	OMIM:235200
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Rothmund-Thomson Syndrome	Aplastic anemia, Calcinosis, Anemia, Small for gestational age, Leukemia, Neutropenia	ORPHA:2909
Mitochondrial Dna-Associated Leigh Syndrome	Hypothermia, Hyperalaninemia, Fever, Failure to thrive, Low plasma citrulline	ORPHA:255210
Wolman Disease	Anemia, Cachexia, Bone-marrow foam cells, Fever, Splenomegaly	ORPHA:75233
Rift Valley Fever	Anemia, Increased circulating IgG level, Periodic fever, Severe viral infection, Fever, Increased...	ORPHA:319251
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Tufted Angioma	Thrombocytopenia, Megakaryocytopenia, Anemia	ORPHA:1063
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Myelofibrosis, Abnormal number of alpha granules,...	OMIM:139090
Hoyeraal-Hreidarsson Syndrome	Anemia, Abnormal leukocyte morphology, Failure to thrive, Bone marrow hypocellularity, Thrombocyt...	ORPHA:3322
Hyper-Igd Syndrome	Chronic oral candidiasis, Recurrent infections, Increased circulating IgA level, Leukocytosis, Mo...	OMIM:260920
Thrombocytopenia 2	Abnormal platelet shape, Leukocytosis, Increased megakaryocyte colony forming unit count, Thrombo...	OMIM:188000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Failure to thrive, Recurrent respiratory infections, Methylmalonic acidemia, Hypothermia	ORPHA:17
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Fever, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Degcags Syndrome	Anemia, Iron deficiency anemia, Pancytopenia, Recurrent infections, Hyperbilirubinemia, Recurrent...	OMIM:619488
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Failure to thrive, Thrombocytopenia	OMIM:616577
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Sepsis, Anemia, Decreased circulating IgG level, Increased circulating IgM level, Bone marrow hyp...	ORPHA:505248
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Hyperglycinemia, Thrombocytopenia, Lethargy	OMIM:620423
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Kaposi Sarcoma	Fever, Recurrent herpes, Abnormality of the spleen, Weight loss	ORPHA:33276
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Small for gestational age, Thrombocytopenia, Leukopenia, Elevated circulating creatine kinase con...	OMIM:301056
Al Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Increased circulating antibody level, Howe...	ORPHA:85443
Alexander Disease	Depression, Failure to thrive, Hypothermia, Infectious encephalitis	ORPHA:58
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Bone Dysplasia, Lethal Holmgren Type	Failure to thrive, Recurrent respiratory infections, Anemia, Weight loss	ORPHA:1842
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Depression, Recurrent urinary tract infections, Recurrent infections, Hepatosplenom...	ORPHA:309282
Sarcoidosis	Hypothermia, Anemia, Increased T cell count, Fever, Leukopenia, Thrombocytopenia, Hypercalcemia, ...	ORPHA:797
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytopenia,...	ORPHA:466650
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Hyperammonemia, Episodic ammonia intoxication, Failure to thrive, Low plasma citrulline, Hyperglu...	OMIM:311250
Juvenile Huntington Disease	Depression, Weight loss, Bradykinesia	ORPHA:248111
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280785
Cyclic Vomiting Syndrome	Lethargy	OMIM:500007
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly	OMIM:617441
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Calcinosis, Anemia, Small for gestational age, Leukemia, Neutropenia	ORPHA:221008
Lysinuric Protein Intolerance	Anemia, Hemophagocytosis, Intraalveolar phospholipid accumulation, Hyperammonemia, Failure to thr...	OMIM:222700
Riddle Syndrome	Decreased circulating IgG level, Recurrent viral infections, Recurrent sinusitis, Recurrent pneum...	ORPHA:420741
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypothermia, Recurrent lower respiratory tract infections, Depression, Hyperlipidemia, Fever, Hyp...	ORPHA:293987
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Mulibrey Nanism	Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Hemolytic anemia	OMIM:152700
Central Neurocytoma	Depression, Lethargy	ORPHA:73256
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperalaninemia, Hyperammonemia, Hypoornithinemia, Hypernatremia, Hyperprolinemia, Low plasma cit...	OMIM:615751
Toxic Epidermal Necrolysis	Sepsis, Anemia, Thrombocytopenia, Weight loss, Recurrent respiratory infections, Neutropenia	ORPHA:537
Shigellosis	Sepsis, Splenic abscess, Leukocytosis, Fever, Hyponatremia, Thrombocytopenia, Microangiopathic he...	ORPHA:810
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia, Lethargy,...	OMIM:617156
Cholera	Hypokalemia, Hypocalcemia, Fever, Hyponatremia, Abnormal blood ion concentration, Lethargy	ORPHA:173
Hsd10 Disease, Infantile Type	Cardiomegaly, Hyperammonemia, Abnormal concentration of acylcarnitine in the urine, Hypertrophic ...	ORPHA:391428
Braddock-Carey Syndrome 2	Megakaryocytopenia, Thrombocytopenia	OMIM:619981
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Takayasu Arteritis	Fever, Anemia, Weight loss	ORPHA:3287
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy, Decreased circulating carnitine concentration	OMIM:201450
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Leukocyte Adhesion Deficiency Type Ii	Recurrent otitis media, Anemia, Small for gestational age, Recurrent infections, Recurrent urinar...	ORPHA:99843
Portal Hypertension, Noncirrhotic, 2	Recurrent infections, Thrombocytopenia, Splenomegaly	OMIM:619463
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Fever, Hepatosplenomegaly, Hemophagocytosis, Weight loss	ORPHA:86884
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Hypothermia	OMIM:608800
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Thrombocyto...	OMIM:619743
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia	OMIM:249270
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomyopathy, Elevated circulating creatine kinase concentration, Nephrotic syndr...	OMIM:617713
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Cachexia, Slender build, Weight loss	OMIM:613662
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Elevated circulating creatine kinase concentration	ORPHA:1933
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Failure to thrive, Weight loss	OMIM:612075
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Calcinosis, Anemia, Small for gestational age, Leukemia, Neutropenia	ORPHA:221016
Cartilage-Hair Hypoplasia	Anemia, Hypocalcemia, Decreased circulating antibody level, Failure to thrive, Neutropenia	ORPHA:175
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis	ORPHA:99931
Cirrhotic Cardiomyopathy	Left atrial enlargement, Abnormal circulating B-type natriuretic peptide concentration, Hepatomeg...	ORPHA:57777
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent otitis media, Recurrent respiratory infections, T lymphocytopenia, Recurrent sinusitis,...	OMIM:607944
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Head titubation, Hypothermia, Temperature instability	ORPHA:99027
Glycogen Storage Disease Ib	Hyperuricemia, Hyperlipidemia, Splenomegaly, Recurrent bacterial infections, Neutropenia	OMIM:232220
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Yellow Fever	Increased circulating interleukin 6 concentration, Hyperbilirubinemia, Leukocytosis, Elevated cir...	ORPHA:99829
Trichothiodystrophy	Anemia, Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentration, Recurrent ...	ORPHA:33364
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia, Hypothermia	ORPHA:31826
Simple Cryoglobulinemia	Monoclonal elevation of IgG, Chronic lymphatic leukemia, Monoclonal elevation of circulating IgA,...	ORPHA:91139
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Autoimmune Pulmonary Alveolar Proteinosis	Fever, Intraalveolar phospholipid accumulation, Weight loss, Abnormal circulating protein concent...	ORPHA:747
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:153670
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp...	OMIM:115197
Alveolar Echinococcosis	Liver abscess, Anemia, Increased circulating antibody level, Abnormal spleen morphology, Fever, W...	ORPHA:284
Biotinidase Deficiency	Hyperammonemia, Splenomegaly, Lethargy	OMIM:253260
Myh9-Related Disease	Increased mean platelet volume, Neutrophil inclusion bodies, Giant platelets, Congenital thromboc...	ORPHA:182050
Developmental And Epileptic Encephalopathy 41	Lethargy	OMIM:617105
Lujo Hemorrhagic Fever	Elevated circulating C-reactive protein concentration, Leukocytosis, Severe viral infection, Feve...	ORPHA:319213
Argininosuccinic Aciduria	Increased circulating argininosuccinic acid, Hyperammonemia, Episodic ammonia intoxication, Failu...	OMIM:207900
Basal Ganglia Disease, Biotin-Thiamine Responsive	Fever, Truncal titubation, Lethargy	OMIM:607483
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Recurrent infections, Neutropenia	OMIM:258360
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Failure to thrive, Thrombocytopenia, Small for gestational age, Conjugated hyperbilirubinemia	OMIM:208085
Dyskeratosis Congenita, X-Linked	Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leuk...	OMIM:305000
Biotinidase Deficiency	Recurrent candida infections, Hyperammonemia, Recurrent viral infections, Recurrent fungal infect...	ORPHA:79241
Susac Syndrome	Apathy, Lethargy	ORPHA:838
Idiopathic Bronchiectasis	Fever, Cachexia, Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract i...	ORPHA:60033
Whipple Disease	Anemia, Depression, Cachexia, Fever, Hyponatremia, Splenomegaly, Infectious encephalitis	ORPHA:3452
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Aromatic L-Amino Acid Decarboxylase Deficiency	Intermittent hypothermia, Lethargy, Temperature instability	OMIM:608643
Leigh Syndrome	Anemia, Hyperalaninemia, Severe viral infection, Failure to thrive, Neutropenia	ORPHA:506
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Recurrent otitis media, B lymphocytopenia, Rec...	OMIM:251260
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Abnormal circulating interferon-gamma concentration, Recurrent Asper...	ORPHA:391487
Perry Syndrome	Depression, Apathy, Weight loss	ORPHA:178509
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Failure to thrive, Recurrent lower respiratory tract infections, Neutropenia	OMIM:618005
Immunodeficiency 55	Recurrent infections, Absent natural killer cells, Neutropenia, Lymphopenia	OMIM:617827
Osteopetrosis, Autosomal Recessive 4	Thrombocytopenia, Anemia, Splenomegaly, Reticulocytosis	OMIM:611490
Fanconi Anemia, Complementation Group N	Aplastic anemia, Acute myeloid leukemia, Small for gestational age	OMIM:610832
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	ORPHA:158029
Immunodeficiency 58	Chronic mucocutaneous candidiasis, Decreased circulating antibody level, Onychomycosis, Decreased...	OMIM:618131
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology, Weight loss	ORPHA:3165
Congenital Rubella Syndrome	Thrombocytopenia, Anemia, Splenomegaly	ORPHA:290
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at...	OMIM:620642
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis	OMIM:233710
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hyperhomocystinemia, Cystathioninemia, Failure to thrive, Hypomethioninemia, Lethargy	ORPHA:395
Peripheral Primitive Neuroectodermal Tumor	Anemia, Weight loss, Elevated circulating alpha-fetoprotein concentration, Elevated carcinoma ant...	ORPHA:370348
Kasabach-Merritt Phenomenon	Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop...	ORPHA:2330
Acute Radiation Syndrome	Fever, Thrombocytopenia, Granulocytopenia, Lymphopenia	ORPHA:454831
Aicardi-Goutieres Syndrome 9	Anemia, Recurrent urinary tract infections, Failure to thrive, Hepatosplenomegaly, Weight loss, H...	OMIM:619487
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Failure to thrive in infancy, Lethargy	ORPHA:746
Autosomal Dominant Progressive External Ophthalmoplegia	Bradykinesia, Depression, Bipolar affective disorder, Elevated circulating creatine kinase concen...	ORPHA:254892
Mogs-Cdg	Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytopenia, Hepatosp...	ORPHA:79330
Thyroid Dyshormonogenesis 1	Lethargy	OMIM:274400
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Increased circulating interleukin 8 concentration, Decreased HDL cholestero...	OMIM:256040
Poems Syndrome	Increased circulating antibody level, Polycythemia, Splenomegaly, Weight loss, Thrombocytosis	ORPHA:2905
Peroxisome Biogenesis Disorder 5A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Elevated circulating phytanic aci...	OMIM:614866
Tempi Syndrome	Increased circulating IgG level, Polycythemia, Increased hematocrit	ORPHA:284227
Multifocal Atrial Tachycardia	Lethargy	ORPHA:3282
Hermansky-Pudlak Syndrome 10	Recurrent respiratory infections, Splenomegaly, Neutropenia	OMIM:617050
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Rectal abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis	OMIM:233690
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular septal defect...	OMIM:616897
Immunodeficiency 92	Hepatomegaly, Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytop...	OMIM:619652
Insulinoma	Increased body weight, Lethargy	ORPHA:97279
Trichinellosis	Increased circulating IgE level, Apathy, Lethargy, Meningitis	ORPHA:863
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Glucose-Galactose Malabsorption	Fever, Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss	ORPHA:35710
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr...	OMIM:306955
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Cachexia, Weight loss, Hyperlipoproteinemia	ORPHA:1979
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia	OMIM:231005
Pyruvate Dehydrogenase Deficiency	Lethargy	ORPHA:765
Isaacs Syndrome	Weight loss	ORPHA:84142
Solitary Fibrous Tumor	Fever, Hypophosphatemic rickets, Weight loss, Reduced C-peptide level	ORPHA:2126
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia	OMIM:175500
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Weight loss	ORPHA:216866
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Bradykinesia, Titubation, Recurrent streptococcus pneumoniae infections, Recu...	ORPHA:225147
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Martin-Probst Syndrome	Pancytopenia	OMIM:300519
Caroli Syndrome	Sepsis, Liver abscess, Hyperbilirubinemia, Leukocytosis, Fever, Thrombocytopenia, Leukopenia, Con...	ORPHA:480520
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Pancytopenia, Cachexia, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly, Thro...	ORPHA:2072
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p...	OMIM:601399
Polymyositis	Fever, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:732
X-Linked Intellectual Disability, Nascimento Type	Recurrent ear infections, Neonatal hyperbilirubinemia, Recurrent cutaneous abscess formation, Rec...	ORPHA:163956
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly, Failure to thr...	OMIM:612852
Neuroblastoma, Susceptibility To, 1	Fever, Failure to thrive, Anemia, Weight loss	OMIM:256700
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Spinocerebellar Ataxia 48	Depression, Cachexia	OMIM:618093
Pulmonary Non-Tuberculous Mycobacterial Infection	Mycobacterium abscessus abscessus infection, Fever, Weight loss, Disseminated nontuberculous myco...	ORPHA:411703
Thrombocytopenia 6	Thrombocytopenia, Bone marrow hypercellularity, Myelofibrosis	OMIM:616937
Acute Adrenal Insufficiency	Hyperkalemia, Normocytic anemia, Hyperuricemia, Recurrent acute respiratory tract infection, Incr...	ORPHA:95409
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Normochromic anemia	OMIM:254900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Anemia, Hyperuricemia, Chronic neutropenia, Hyperlipidemia, Failure to thri...	ORPHA:79259
Fanconi Anemia, Complementation Group F	Anemia, Bone marrow hypocellularity, Failure to thrive, Thrombocytopenia, Leukopenia	OMIM:603467
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Fever, Weight loss, Eosinophilia, Infectious encephalitis	ORPHA:139402
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Anemia, Decreased circulating apolipoprotein A-I concent...	ORPHA:85450
Magel2-Related Prader-Willi-Like Syndrome	Increased body weight, Temperature instability, Failure to thrive, Abdominal obesity, Recurrent r...	ORPHA:398069
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Increased circulating interleukin 6 concentration, Hypocalcemia, Leukocytosis, Seve...	ORPHA:544482
Osteootohepatoenteric Syndrome	Anemia, Increased serum bile acid concentration, Hypokalemia, Failure to thrive, Weight loss	OMIM:619377
Stevens-Johnson Syndrome	Sepsis, Anemia, Fever, Thrombocytopenia, Weight loss, Recurrent respiratory infections, Abnormali...	ORPHA:36426
Caroli Disease	Liver abscess, Leukocytosis, Fever, Splenomegaly, Conjugated hyperbilirubinemia, Weight loss	ORPHA:53035
Secondary Short Bowel Syndrome	Sepsis, Failure to thrive, Weight loss, Abnormal blood ion concentration, Low plasma citrulline	ORPHA:95427
Combined Oxidative Phosphorylation Deficiency 14	Elevated hepatic iron concentration, Thrombocytopenia, Anemia	OMIM:614946
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Weight loss	ORPHA:2198
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia	OMIM:300367
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Recurrent infections, Decreased circulating IgG level, Severe B lymphoc...	OMIM:620005
Sandifer Syndrome	Abnormal posturing, Anemia	ORPHA:71272
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation	OMIM:614074
Isolated Complex I Deficiency	Failure to thrive, Increased serum pyruvate, Lethargy	ORPHA:2609
Desmoplastic Small Round Cell Tumor	Cachexia, Anemia, Weight loss	ORPHA:83469
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Nephrot...	ORPHA:911
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function, Thrombocytopenia, Microcytic anemia	ORPHA:903
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Fever, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia	ORPHA:93552
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Recurrent bacteria...	ORPHA:79277
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Recurrent infections, Weight loss, Depression	ORPHA:704
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Rectal abscess, Granuloma, Splenomegaly, Impaired oxidative burst, Granulomatosis	OMIM:306400
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro...	ORPHA:324410
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hypokalemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemia, Hyponatremia, Thromb...	ORPHA:90038
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Oculopharyngodistal Myopathy	Weight loss	ORPHA:98897
Sim1-Related Prader-Willi-Like Syndrome	Failure to thrive, Obesity, Abdominal obesity, Recurrent respiratory infections, Lethargy	ORPHA:398079
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Cohen Syndrome	Failure to thrive in infancy, Obesity, Neutropenia	ORPHA:193
Familial Mediterranean Fever	Elevated circulating C-reactive protein concentration, Leukocytosis, Recurrent fever, Neutrophili...	OMIM:249100
Fructose-1,6-Bisphosphatase Deficiency	Fever, Lethargy	OMIM:229700
Erythrokeratodermia Variabilis	Weight loss	ORPHA:317
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Hepatomegaly, Ventricular hypertrophy, Leukocytosis, Reticulocytosis, P...	OMIM:618278
Non-Functioning Paraganglioma	Hypercalcemia, Weight loss	ORPHA:94080
Catastrophic Antiphospholipid Syndrome	Abnormal circulating cytokine concentration, Thrombocytopenia, Coombs-positive hemolytic anemia, ...	ORPHA:464343
Mulibrey Nanism	Cachexia	ORPHA:2576
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hyperornithinemia, Abnormal circulating citrulline concentration, Hyperammonemia, Failure to thri...	ORPHA:415
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Overweight, Hypothermia, Lethargy	ORPHA:226307
Hirschsprung Disease	Failure to thrive in infancy, Sepsis, Weight loss	ORPHA:388
Polycythemia Vera	Acute leukemia, Myelofibrosis, Leukocytosis, Polycythemia, Splenomegaly, Weight loss, Thrombocytosis	ORPHA:729
Pediatric-Onset Graves Disease	Neutropenia in presence of anti-neutropil antibodies, Failure to thrive, Thrombocytopenia, Spleno...	ORPHA:525731
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Hypokalemia	OMIM:188580
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy	OMIM:618232
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Anemia, Recurrent infections, Thrombocytopenia, Failure to thrive in infancy	OMIM:611209
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Hereditary Sensory And Autonomic Neuropathy Type 4	Hypothermia, Anemia, Recurrent Staphylococcus aureus infections, Tooth abscess, Unexplained fever...	ORPHA:642
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Increased red blood cell count, Granuloma, Fever, Lethargy, Infectious en...	ORPHA:68
Khan-Khan-Katsanis Syndrome	Failure to thrive, Neutropenia, Anemia, Lymphopenia	OMIM:618460
Pseudo-Torch Syndrome 1	Failure to thrive, Thrombocytopenia, Splenomegaly	OMIM:251290
Hereditary Fructose Intolerance	Lethargy, Hypermagnesemia, Hypophosphatemia, Hyperuricemia	ORPHA:469
Hereditary Orotic Aciduria	Recurrent respiratory infections, Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets, Renal artery stenosis	OMIM:208000
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgA level, Fever, Increased circulating IgM level, Increased circulating Ig...	ORPHA:79078
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Hypokalemia	OMIM:613239
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa...	OMIM:300257
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Mitochondrial Complex I Deficiency, Nuclear Type 1	Failure to thrive, Hyperalaninemia, Splenomegaly, Lethargy	OMIM:252010
Glycogen Storage Disease Ic	Cyclic neutropenia, Recurrent upper respiratory tract infections, Hyperlipidemia, Hyperuricemia	OMIM:232240
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Anemia, Lymphopenia	OMIM:620365
Moynahan Syndrome	Cachexia	ORPHA:2574
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia	ORPHA:1438
Ogden Syndrome	Lethargy	ORPHA:276432
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Increased urinary N-acetylglucosamine-rich oligosaccharide le...	OMIM:268800
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Glycogen Storage Disease Ii	Urinary incontinence, Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circu...	OMIM:232300
Farber Disease	Anemia, Failure to thrive, Recurrent fever, Thrombocytopenia, Hepatosplenomegaly, Recurrent upper...	ORPHA:333
Cronkhite-Canada Syndrome	Cachexia, Anemia, Splenomegaly	ORPHA:2930
Hermansky-Pudlak Syndrome	Abnormality of thrombocytes, Weight loss, Neutropenia	ORPHA:79430
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Hyperkalemia, Anemia, Vacuolated lymphocytes, Bone-marrow foam cells, Cache...	ORPHA:275761
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le...	ORPHA:308552
Perry Syndrome	Depression, Apathy, Weight loss, Bradykinesia	OMIM:168605
Primary Sjögren Syndrome	Normocytic anemia, Increased circulating antibody level, Normochromic anemia, Depression, Decreas...	ORPHA:289390
Primary Sclerosing Cholangitis	Depression, Fever, Hepatosplenomegaly, Splenomegaly, Weight loss, Polyclonal elevation of IgM, Hy...	ORPHA:171
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Increased circulating interleukin 6 concentration, Anemia, Decreased body weight, L...	ORPHA:340
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia	OMIM:222300
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular...	ORPHA:268
Combined Oxidative Phosphorylation Deficiency 11	Lethargy	OMIM:614922
Familial Glucocorticoid Deficiency	Hyperkalemia, Recurrent infections, Recurrent urinary tract infections, Hyponatremia, Failure to ...	ORPHA:361
Menkes Disease	Sepsis, Hypothermia	ORPHA:565
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia, High nonceruloplasmin-bound serum copper	ORPHA:457351
Interstitial Cystitis	Abnormality of tumor necrosis factor secretion	ORPHA:37202
Gaucher Disease, Perinatal Lethal	Anemia, Decreased body weight, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Apathy	OMIM:608013
Fucosidosis	Mucopolysacchariduria, Hepatomegaly, Cardiomegaly	ORPHA:349
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia	OMIM:620475
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Elevated circulating creatine kinase concentration, Hydronephrosis, Cardiomegaly, D...	OMIM:614921
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypothermia, Anemia, Decreased circulating iron concentration	ORPHA:438213
Malt Lymphoma	Fever, Recurrent respiratory infections, Anemia, Weight loss	ORPHA:52417
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Osteosarcoma	Fever, Weight loss	ORPHA:668
Nodular Non-Suppurative Panniculitis	Fever, Splenomegaly, Weight loss	ORPHA:33577
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Depression	OMIM:128100
Adams-Oliver Syndrome	Failure to thrive, Thrombocytopenia, Leukopenia	ORPHA:974
Aicardi-Goutieres Syndrome 1	Fever, Thrombocytopenia, Splenomegaly	OMIM:225750
Igg4-Related Kidney Disease	Increased circulating IgG1 level, Elevated circulating C-reactive protein concentration, Increase...	ORPHA:449395
Gaucher Disease, Type Ii	Anemia, Bronchiolitis, Failure to thrive, Thrombocytopenia, Splenomegaly	OMIM:230900
Diffuse Cutaneous Mastocytosis	Lymphocytosis, Hepatomegaly, Myeloproliferative disorder, Abnormality of the spleen	ORPHA:79456
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Recon Progeroid Syndrome	Recurrent infections, Thrombocytopenia, Anemia	OMIM:620370
Systemic Capillary Leak Syndrome	Leukocytosis, Weight loss	ORPHA:188
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hypochromic microcytic anemia, Iro...	ORPHA:97214
Alexander Disease Type I	Cachexia, Failure to thrive	ORPHA:363717
Pleural Mesothelioma	Weight loss	ORPHA:50251
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy	OMIM:619259
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia, Abnormal megakaryocyte morphology	OMIM:273900
Chronic Graft Versus Host Disease	Recurrent infections, Weight loss, Pancytopenia	ORPHA:99921
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Neutropenia	OMIM:617799
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy	OMIM:105210
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia, Lethargy, Small for gestational age	OMIM:307030
Juvenile Dermatomyositis	Calcinosis, Elevated circulating C-reactive protein concentration, Elevated circulating creatine ...	ORPHA:93672
Addison Disease	Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ...	ORPHA:85138
Giant Cell Arteritis	Recurrent pharyngitis, Depression, Fever, Weight loss, Abnormality of thrombocytes, Meningitis	ORPHA:397
Zygomycosis	Unusual skin infection, Neutropenia, Splenic abscess, Invasive fungal infection, Fever, Infectiou...	ORPHA:73263
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Fever, Hyperbilirubinemia, Thrombocytopenia	ORPHA:464321
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Recurrent respiratory infections	ORPHA:1389
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochromic anemia,...	ORPHA:91500
21Q22.11Q22.12 Microdeletion Syndrome	Failure to thrive in infancy, Thrombocytopenia, Recurrent otitis media, Anemia	ORPHA:261323
Idiopathic Hypereosinophilic Syndrome	Anemia, Myeloproliferative disorder, Leukocytosis, Myelofibrosis, Fever, Failure to thrive, Neutr...	ORPHA:3260
Occipital Horn Syndrome	Recurrent urinary tract infections, Hypothermia	ORPHA:198
Systemic Lupus Erythematosus	Depression, Fever, Thrombocytopenia, Leukopenia, Weight loss, Hemolytic anemia	ORPHA:536
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,...	OMIM:261740
Mcdonough Syndrome	Cachexia	ORPHA:2471
Noonan Syndrome 4	Large for gestational age, Thrombocytopenia	OMIM:610733
Glycine Encephalopathy	Hyperglycinemia, Lethargy	ORPHA:407
Japanese Encephalitis	Increased circulating antibody level, Fever, Hyponatremia, Increased circulating IgM level, Neutr...	ORPHA:79139
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Pulmonic stenosis, Histiocytosis, Hepatosplenomegaly, Splenomegaly, Mitral valve pr...	OMIM:602782
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Failure to thrive, Hypophosphatemia, Lethargy	OMIM:229600
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Fever, Weight loss	ORPHA:79127
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly	OMIM:620367
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Anemia, Hypotriglyceridemia, Hyperbilirubi...	ORPHA:14
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Granulomatosis With Polyangiitis	Elevated circulating C-reactive protein concentration, Fever, Weight loss, Recurrent respiratory ...	ORPHA:900
Gm1 Gangliosidosis	Failure to thrive, Hepatosplenomegaly, Splenomegaly, Weight loss, Recurrent respiratory infection...	ORPHA:354
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Kaposiform Lymphangiomatosis	Anemia, Abnormal spleen morphology, Fever, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	ORPHA:464329
Christianson Syndrome	Cachexia	ORPHA:85278
Tangier Disease	Hypertriglyceridemia, Anemia, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia	ORPHA:31150
Diamond-Blackfan Anemia 21	Thrombocytopenia, Anemia, Erythroid hypoplasia, Obesity	OMIM:620072
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Failure to thrive, Lethargy	OMIM:201470
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Cachexia, Failure to thrive in infancy	OMIM:616801
Budd-Chiari Syndrome	Fever, Splenomegaly, Weight loss	ORPHA:131
Bullous Pemphigoid	Recurrent infections, Weight loss	ORPHA:703
Digeorge Syndrome	Recurrent otitis media, Anemia, Hypocalcemia, Recurrent infections, Hypoplasia of the thymus, Bip...	OMIM:188400
Takenouchi-Kosaki Syndrome	Recurrent infections, Increased mean platelet volume, Thrombocytopenia	OMIM:616737
Medulloblastoma	Lethargy, Abnormal bone marrow cell morphology	ORPHA:616
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Cachexia, Recurrent pneumonia, Thrombocytopenia, Rec...	ORPHA:647
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Liver Disease, Severe Congenital	Sepsis, Recurrent otitis media, Anemia, Lymphocytosis, Hyperbilirubinemia, Hypocalcemia, Hypoprot...	OMIM:619991
Eosinophilic Granulomatosis With Polyangiitis	Fever, Eosinophilia, Weight loss	ORPHA:183
Rat-Bite Fever	Sepsis, Anemia, Fever, Weight loss, Meningitis	ORPHA:31205
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Bernard-Soulier Syndrome	Abnormal megakaryocyte morphology, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Macr...	ORPHA:274
Thymic Neuroendocrine Tumor	Hypercalcemia, Weight loss	ORPHA:97289
Leukocyte Adhesion Deficiency	Perianal abscess, Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormalit...	ORPHA:2968
Sponastrime Dysplasia	Recurrent pneumonia, Decreased circulating antibody level, Small for gestational age, Neutropenia	ORPHA:93357
Nephroblastoma	Fever, Weight loss	ORPHA:654
Hellp Syndrome	Decreased mean corpuscular hemoglobin concentration, Increased body weight, Thrombocytopenia, Mic...	ORPHA:244242
Renpenning Syndrome	Cachexia	ORPHA:3242
Choreoacanthocytosis	Bradykinesia, Depression, Abnormal erythrocyte enzyme concentration or activity, Elevated circula...	ORPHA:2388
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid...	OMIM:230000
Microsporidiosis	Sepsis, Abnormal bone marrow cell morphology, Cachexia, Bronchiolitis, Fever, Decreased proportio...	ORPHA:2552
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia	ORPHA:52503
Lathosterolosis	Anisopoikilocytosis, Failure to thrive, Thrombocytopenia, Abnormal platelet morphology	ORPHA:46059
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen	ORPHA:93941
Pseudomyxoma Peritonei	Weight loss	ORPHA:26790
Familial Colorectal Cancer Type X	Depression, Abnormal circulating creatine concentration, Weight loss	ORPHA:440437
Down Syndrome	Leukemia, Polycythemia, Neutrophilia, Thrombocytopenia, Obesity, Acute megakaryocytic leukemia	ORPHA:870
Porphyria, Congenital Erythropoietic	Elevated circulating uroporphyrin concentration, Thrombocytopenia, Splenomegaly, Reduced erythroc...	OMIM:263700
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Cachexia, Refractory anemia, Anemia	ORPHA:79076
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr...	OMIM:130650
Posterior Urethral Valve	Recurrent urinary tract infections, Lethargy	ORPHA:93110
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Mildly elevated creatine kinase, Weight loss, Depression	OMIM:607459
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Decreased circulating antibody level, Transient hypogammaglobulinemia...	ORPHA:3132
Wilson Disease	Anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Thro...	OMIM:277900
Dyskeratosis Congenita	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Splenomegaly, Recurrent respiratory infect...	ORPHA:1775
Yao Syndrome	Recurrent fever, Weight loss	OMIM:617321
Infantile Krabbe Disease	Recurrent infections, Cachexia, Temperature instability, Unexplained fevers, Failure to thrive	ORPHA:206436
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Histiocytoid Cardiomyopathy	Fever, Failure to thrive, Lethargy	ORPHA:137675
Thyrotoxic Periodic Paralysis	Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Obesity, Hypomagnesemia, Weight l...	ORPHA:79102
Blue Rubber Bleb Nevus	Thrombocytopenia, Iron deficiency anemia	OMIM:112200
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Goodpasture Syndrome	Anemia, Cylindruria, Increased blood urea nitrogen, Proteinuria, Macroscopic hematuria, Renal ins...	OMIM:233450
Ivic Syndrome	Thrombocytopenia, Leukocytosis	ORPHA:2307
Xfe Progeroid Syndrome	Hypoalbuminemia, Cachexia, Failure to thrive	OMIM:610965
Oromandibular Dystonia	Depression, Weight loss	ORPHA:93958
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Nephrocalcinosis, Nephritis, Prot...	OMIM:104200
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Thrombocytopenia, Anemia	OMIM:612199
Fatal Familial Insomnia	Fever, Weight loss	OMIM:600072
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Aredyld Syndrome	Cachexia, Splenomegaly	ORPHA:1133
Glucagonoma	Normochromic anemia, Depression, Hypercalcemia, Weight loss, Acanthocytosis	ORPHA:97280
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Graves Disease	Weight loss	OMIM:275000
Granulomatosis With Polyangiitis	Fever, Weight loss, Granulomatosis	OMIM:608710
Lymphoid Interstitial Pneumonia	Severe viral infection, Fever, Failure to thrive, Weight loss	ORPHA:79128
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
22Q11.2 Deletion Syndrome	Hypocalcemia, Depression, Hypoplasia of the thymus, Bipolar affective disorder, Impaired T cell f...	ORPHA:567
Leptospirosis	Fever, Thrombocytopenia, Meningitis, Hyperproteinemia	ORPHA:509
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Anemia	ORPHA:163979
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Slender build, Weight loss, Elevated c...	OMIM:603041
Thrombocytopenia-Absent Radius Syndrome	Anemia, Decreased circulating antibody level, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly,...	OMIM:274000
Adrenocortical Carcinoma	Increased body weight, Weight loss, Hypokalemia	ORPHA:1501
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia, Weight loss	ORPHA:276621
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Neutropenia	OMIM:617248
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Decreased body weight, Thrombocytopenia	OMIM:619005
Inflammatory Bowel Disease 11	Weight loss	OMIM:191390
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Congenital Syphilis	Anemia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Meningitis	ORPHA:499009
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Hennekam-Beemer Syndrome	Mastocytosis	ORPHA:2135
Dubowitz Syndrome	Anemia, Recurrent infections, Acute lymphoblastic leukemia, Thrombocytopenia, Abnormality of neut...	ORPHA:235
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Thymic Carcinoma	Weight loss	ORPHA:99868
Alobar Holoprosencephaly	Depression, Temperature instability, Failure to thrive, Apathy, Lethargy	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depression, Temperature instability, Failure to thrive, Apathy, Lethargy	ORPHA:93926
Lobar Holoprosencephaly	Depression, Temperature instability, Failure to thrive, Apathy, Lethargy	ORPHA:93924
Semilobar Holoprosencephaly	Depression, Temperature instability, Failure to thrive, Apathy, Lethargy	ORPHA:220386
Pelizaeus-Merzbacher Disease	Cachexia, Recurrent respiratory infections, Failure to thrive in infancy	ORPHA:702
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Hypertrophic cardiomyopathy, ...	OMIM:252500
Deeah Syndrome	Decreased hemoglobin concentration, Abnormality of temperature regulation, Thrombocytopenia, Decr...	OMIM:619004
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Sepsis, Anemia, Depression, Fever, Neutropenia	ORPHA:95455
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Anemia, Low-grade fever, Weight loss	ORPHA:85408
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Cachexia, Severe failure to thrive	ORPHA:371364
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Large for gestational age, Chronic neutropenia, Transient neutropenia	ORPHA:500095
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Ivic Syndrome	Thrombocytopenia, Leukocytosis	OMIM:147750
Mucopolysaccharidosis Type 3	Abnormal aortic valve morphology, Hepatomegaly, Mucopolysacchariduria, Abnormal mitral valve morp...	ORPHA:581
Multiple Endocrine Neoplasia Type 1	Depression, Hypercalcemia, Lethargy, Weight loss	ORPHA:652
Erdheim-Chester Disease	Fever, Anemia, Weight loss	ORPHA:35687
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Thauvin-Robinet-Faivre Syndrome	Large for gestational age, Transient neutropenia	OMIM:617107
Gerstmann-Straussler Disease	Depression, Weight loss, Bradykinesia	OMIM:137440
Oculocerebrorenal Syndrome Of Lowe	Anemia, Hypokalemia, Depression, Hyponatremia, Failure to thrive, Thrombocytopenia, Hypophosphate...	ORPHA:534
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Kufor-Rakeb Syndrome	Bradykinesia, Fever, Apathy, Lethargy	ORPHA:306674
Tetrasomy 12P	Cachexia	ORPHA:884
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Perimembranous ventricular septal defect, Iron deficien...	OMIM:300855
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly	OMIM:618143
Vipoma	Hypokalemia, Hypercalcemia, Weight loss, Normochromic anemia	ORPHA:97282
Neuropathy, Congenital Hypomyelinating, 3	Cachexia	OMIM:618186
Acute Liver Failure	Depression, Hyperammonemia, Thrombocytopenia, Fever	ORPHA:90062
Cap Polyposis	Weight loss	ORPHA:160148
Jacobsen Syndrome	Failure to thrive, Recurrent respiratory infections, Thrombocytopenia	OMIM:147791
Jacobsen Syndrome	Bone marrow hypocellularity, Recurrent respiratory infections, Thrombocytopenia, Bipolar affectiv...	ORPHA:2308
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Dermatomyositis	Abnormal eosinophil morphology, Elevated circulating creatine kinase concentration, Fever, Weight...	ORPHA:221
19Q13.11 Microdeletion Syndrome	Cachexia, Recurrent respiratory infections, Failure to thrive	ORPHA:217346
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of tumor necrosis factor secretion	ORPHA:85436
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Anaplastic Thyroid Carcinoma	Weight loss	ORPHA:142
Hereditary Late-Onset Parkinson Disease	Depression, Apathy, Weight loss, Bradykinesia	ORPHA:411602
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Pulmonary Alveolar Microlithiasis	Increased circulating surfactant protein level, Fever, Weight loss	ORPHA:60025
Oculopharyngodistal Myopathy 1	Elevated circulating creatine kinase concentration, Weight loss	OMIM:164310
Hardikar Syndrome	Hyperbilirubinemia, Recurrent urinary tract infections, Failure to thrive, Thrombocytopenia, Hepa...	OMIM:301068
Malignant Peritoneal Mesothelioma	Weight loss	ORPHA:168811
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic...	ORPHA:116
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Autosomal Recessive Polycystic Kidney Disease	Increased serum bile acid concentration, Recurrent urinary tract infections, Hyponatremia, Recurr...	ORPHA:731
Velocardiofacial Syndrome	Hypocalcemia, Recurrent infections, Impaired T cell function	OMIM:192430
Liposarcoma	Weight loss	ORPHA:69078
Somatostatinoma	Hypercalcemia, Hypochromic microcytic anemia, Weight loss	ORPHA:97283
Cystinosis, Nephropathic	Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti...	OMIM:219800
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia, Weight loss	ORPHA:29072
Nocardiosis	Sepsis, Liver abscess, Fever, Unusual CNS infection, Infectious encephalitis, Weight loss, Cutane...	ORPHA:31204
Atelis Syndrome 2	Thrombocytopenia, Anemia	OMIM:620185
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Head titubation	ORPHA:300605
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Glossopharyngeal Neuralgia	Depression, Weight loss	ORPHA:221098
Fanconi Anemia	Anemia, Recurrent urinary tract infections, Thrombocytopenia, Leukopenia, Weight loss, Pyridoxine...	ORPHA:84
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Thrombocytopenia, Splenomegaly, Truncal obesity	OMIM:301072
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Weight loss	ORPHA:100075
Hydranencephaly	Meningitis, Lethargy	ORPHA:2177
Klatskin Tumor	Fever, Weight loss	ORPHA:99978
Wild Type Attr Amyloidosis	Weight loss	ORPHA:330001
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ...	ORPHA:1677
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le...	ORPHA:365
Parenteral Nutrition-Associated Cholestasis	Splenomegaly, Abnormality of cytokine secretion	ORPHA:567983
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Recurrent infections, Increased mean platelet volume, Thrombocytopenia	ORPHA:487796
Congenital Tufting Enteropathy	Failure to thrive, Weight loss	ORPHA:92050
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Short Syndrome	Weight loss	ORPHA:3163
Amyotrophic Lateral Sclerosis	Depression, Cachexia	ORPHA:803
8P23.1 Microdeletion Syndrome	Obesity, Weight loss	ORPHA:251071
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re...	ORPHA:75565
Congenital Disorder Of Glycosylation, Type Iiw	Recurrent otitis media, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Microcytic anemia	OMIM:619525
Schwartz-Jampel Syndrome	Cachexia, Decreased body weight, Malignant hyperthermia, Elevated circulating creatine kinase con...	ORPHA:800
Aicardi-Goutières Syndrome	Chronic lymphatic leukemia, Increased circulating interferon-gamma concentration, Neonatal alloim...	ORPHA:51
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R...	OMIM:300967
Bohring-Opitz Syndrome	Cardiomegaly, Urinary retention, Abnormal cardiac septum morphology	ORPHA:97297
Aspartylglucosaminuria	Vacuolated lymphocytes, Recurrent respiratory infections, Neutropenia	OMIM:208400
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosi...	ORPHA:904
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Weight loss	ORPHA:309031
Silver-Russell Syndrome	Cachexia, Obesity, Failure to thrive in infancy	ORPHA:813
Medullary Thyroid Carcinoma	Weight loss	ORPHA:1332
Mucolipidosis Type Ii	Recurrent respiratory infections, Hepatosplenomegaly, Splenomegaly, Weight loss	ORPHA:576
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Cardiomegaly, Patent foramen ovale, Splenic cyst	OMIM:620371
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Failure to thrive, Recurrent respiratory infections, Weight loss	ORPHA:1018
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat...	ORPHA:3337
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Familial Pancreatic Carcinoma	Peritoneal abscess, Hepatosplenomegaly, Weight loss	ORPHA:1333
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Hepatomegaly, Ventricular septal defect	ORPHA:96191
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Reactive Arthritis	Fever, Recurrent urinary tract infections, Weight loss	ORPHA:29207
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Weight loss	ORPHA:100078
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures, Abnormality of T cell physiology	ORPHA:2237
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Behçet Disease	Fever, Splenomegaly, Weight loss, Meningitis, Infectious encephalitis	ORPHA:117
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Neuroendocrine Tumor Of The Colon	Weight loss	ORPHA:100080
Bronchial Neuroendocrine Tumor	Weight loss	ORPHA:97287
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Obesity	ORPHA:85293
Camurati-Engelmann Disease	Anemia, Cachexia, Slender build, Leukopenia, Splenomegaly	ORPHA:1328
Primary Hepatic Neuroendocrine Carcinoma	Weight loss	ORPHA:100085
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Neuroendocrine Tumor Of The Rectum	Weight loss	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Weight loss	ORPHA:100082
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia, Weight loss	ORPHA:143
Rett Syndrome	Cachexia	OMIM:312750
Progeroid Short Stature With Pigmented Nevi	Recurrent viral infections, Small for gestational age, Impaired T cell function	OMIM:176690
Cushing Syndrome Due To Ectopic Acth Secretion	Decreased eosinophil count, Depression, Increased body weight, Leukocytosis, Weight loss, Lymphop...	ORPHA:99889
Ppoma	Hypercalcemia, Weight loss	ORPHA:97278
Yunis-Varon Syndrome	Hypospadias, Renal artery stenosis, Cardiomyopathy, Renovascular hypertension, Tetralogy of Fallo...	ORPHA:3472
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Grfoma	Hypercalcemia, Weight loss	ORPHA:97261
Zollinger-Ellison Syndrome	Hypercalcemia, Weight loss	ORPHA:913
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Malignant Atrophic Papulosis	Weight loss	ORPHA:679
Generalized Arterial Calcification Of Infancy	Hypophosphatemic rickets, Ventricular hypertrophy, Medullary nephrocalcinosis, Hyperphosphaturia,...	ORPHA:51608
Tsh-Secreting Pituitary Adenoma	Weight loss, Hypokalemia	ORPHA:91347
Unilateral Polymicrogyria	Abnormal posturing	ORPHA:268943
Osteogenesis Imperfecta	Thrombocytopenia, Small for gestational age	ORPHA:666
Pineoblastoma	Lethargy	ORPHA:251909
Cockayne Syndrome	Cachexia, Splenomegaly, Hyperuricemia	ORPHA:191
Congenital Fiber-Type Disproportion Myopathy	Failure to thrive, Recurrent respiratory infections, Weight loss	ORPHA:2020
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyperkalemia, Hypochloremia, Hyponatremia, Failure to thrive, Weight loss	ORPHA:90794
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Bannayan-Riley-Ruvalcaba Syndrome	Cachexia	ORPHA:109
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Trisomy 18	Cachexia	ORPHA:3380
Lynch Syndrome	Depression, Weight loss	ORPHA:144
African Trypanosomiasis	Periodic fever, Hepatosplenomegaly, Splenomegaly, Weight loss, Apathy	ORPHA:3385
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Weight loss	ORPHA:99885
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Gallbladder Neuroendocrine Tumor	Weight loss	ORPHA:100086
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Noonan Syndrome 1	Failure to thrive in infancy, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia	OMIM:163950
Seckel Syndrome	Cachexia	ORPHA:808
Pancreatoblastoma	Weight loss	ORPHA:677
Tropical Pancreatitis	Weight loss	ORPHA:103918
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	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
Stickler Syndrome	Cachexia, Recurrent respiratory infections, Slender build	ORPHA:828
Proteus Syndrome	Thymus hyperplasia, Cachexia, Recurrent infections, Splenomegaly	ORPHA:744
Marfan Syndrome	Cachexia, Slender build	ORPHA:558
Norrie Disease	Cachexia, Failure to thrive	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 21.0 Data