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Gene: Msi2 MGI:1923876

Gene Summary

Name:

musashi RNA-binding protein 2

Synonyms:

Musashi2, msi2h

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
decreased lymphocyte cell number	Msi2^em1(IMPC)Mbp	HOM	Early adult	7.53×10^-07
abnormal brain morphology	Msi2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased liver weight	Msi2^em1(IMPC)Mbp	HOM	Early adult	1.79×10^-12
abnormal gait	Msi2^em1(IMPC)Mbp	HOM	Early adult	2.67×10^-09
increased circulating triglyceride level	Msi2^em1(IMPC)Mbp	HOM	Early adult	3.08×10^-07
persistence of hyaloid vascular system	Msi2^em1(IMPC)Mbp	HOM	Early adult	3.63×10^-05
decreased brain weight	Msi2^em1(IMPC)Mbp	HOM	Early adult	3.78×10^-33
decreased exploration in new environment	Msi2^em1(IMPC)Mbp	HOM	Early adult	7.41×10^-05
small kidney	Msi2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased spleen weight	Msi2^em1(IMPC)Mbp	HOM	Early adult	2.22×10^-26
decreased lean body mass	Msi2^em1(IMPC)Mbp	HOM	Early adult	1.84×10^-08
abnormal liver morphology	Msi2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Msi2^em1(IMPC)Mbp	HOM	Early adult	7.33×10^-08
decreased neutrophil cell number	Msi2^em1(IMPC)Mbp	HOM	Early adult	8.78×10^-05
decreased body length	Msi2^em1(IMPC)Mbp	HOM	Early adult	7.26×10^-22
increased total body fat amount	Msi2^em1(IMPC)Mbp	HOM	Early adult	1.71×10^-09
decreased brain size	Msi2^em1(IMPC)Mbp	HOM	Early adult	0.00
small liver	Msi2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased startle reflex	Msi2^em1(IMPC)Mbp	HOM	Early adult	1.26×10^-06
abnormal kidney morphology	Msi2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Msi2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal retina morphology	Msi2^em1(IMPC)Mbp	HOM	Early adult	5.44×10^-06
small spleen	Msi2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased mean platelet volume	Msi2^em1(IMPC)Mbp	HOM	Early adult	2.20×10^-07
decreased locomotor activity	Msi2^em1(IMPC)Mbp	HOM	Early adult	1.14×10^-11
decreased fasting circulating glucose level	Msi2^em1(IMPC)Mbp	HOM	Early adult	3.33×10^-08
decreased leukocyte cell number	Msi2^em1(IMPC)Mbp	HOM	Early adult	1.06×10^-06
eye hemorrhage	Msi2^em1(IMPC)Mbp	HOM	Early adult	1.14×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

37 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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Human diseases caused by Msi2 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 Msi2 (0 diseases)
Human diseases predicted to be associated with Msi2 (803 diseases)

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

The table below shows human diseases predicted to be associated to Msi2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Immunodeficiency 48	Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Panhypogammaglobu...	OMIM:269840
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c...	OMIM:617241
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Hepa...	OMIM:300400
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho...	OMIM:618987
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De...	ORPHA:169154
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Failure to thrive, Neutropenia	OMIM:616022
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re...	OMIM:608971
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Optic atrophy, Neutropenia, Hy...	ORPHA:79312
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Absence of lymph node germinal center, Increased circulating IgE level, Lack of T ce...	ORPHA:277
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Increased circul...	ORPHA:100024
Myh9-Related Disease	Elevated hepatic transaminase, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Renal i...	ORPHA:182050
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor...	OMIM:212050
Immunodeficiency 19	T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo...	OMIM:615617
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:603552
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci...	OMIM:620282
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive...	OMIM:619824
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf...	OMIM:155100
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona...	OMIM:618459
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infections, Failur...	OMIM:601457
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci...	OMIM:610717
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Impaired rist...	OMIM:231200
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Immunodeficiency 102	Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody response to H...	OMIM:301082
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Ataxia, Tremor, Dystonia, Mental deterioration	OMIM:615924
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ...	OMIM:612526
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Ataxia, Reduced intraabd...	ORPHA:363400
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Optic atrophy, Neutropenia, Hyperammonemia, ...	ORPHA:289916
Mirage Syndrome	Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Thrombocytopenia, Leukopenia,...	OMIM:617053
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:229050
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Glutathione Synthetase Deficiency	Hemolytic anemia, Ataxia, Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine...	OMIM:266130
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Decreased circulating antibody level, Lymphade...	ORPHA:397596
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia...	ORPHA:238459
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat...	OMIM:619281
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Bleeding Disorder, Platelet-Type, 24	Abnormal bleeding, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregati...	OMIM:619271
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen...	OMIM:618986
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Hemophagocytic Lymphohistiocytosis, Familial, 1	Decreased HDL cholesterol concentration, Leukopenia, Hypoalbuminemia, Hyponatremia, Hepatomegaly,...	OMIM:267700
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death, Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency 46	Intermittent thrombocytopenia, Decreased circulating antibody level, Neutropenia, Failure to thri...	OMIM:616740
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr...	OMIM:616005
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp...	OMIM:618982
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Impotence, Cirrhosis, Neutropenia, Lymphopenia, Anemia, Amenorrhea	OMIM:604250
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Bleeding Disorder, Platelet-Type, 16	Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi...	OMIM:187800
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad...	OMIM:618048
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d...	OMIM:137560
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin...	OMIM:300635
Papular Xanthoma	Histiocytosis	ORPHA:158008
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Reticular Dysgenesis	Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur...	ORPHA:33355
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet...	OMIM:153670
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Stage 5 chronic kidney...	OMIM:251000
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, B lymphocytopenia	OMIM:619851
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism,...	OMIM:612541
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p...	OMIM:312700
Ataxia-Telangiectasia	Decreased circulating IgG level, Failure to thrive, Diabetes mellitus, Female hypogonadism, Decre...	OMIM:208900
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Increased mean platelet volume, Abn...	OMIM:222470
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Hypoglycemia, Thrombocytop...	OMIM:606054
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Retinopathy Of Prematurity	Tractional retinal detachment, Small for gestational age, Retinal arteriolar tortuosity, Abnormal...	ORPHA:90050
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume	OMIM:615193
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Hypoalbuminemia, Hyponatremia, Hepatomegaly, Ataxia, Hepatosplenomegaly, Lymphadenopa...	OMIM:603553
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Lymphangioma, Thrombocytopenia, Pancreatic cys...	ORPHA:464329
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol ...	OMIM:210250
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity	OMIM:616871
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Lujo Hemorrhagic Fever	Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Leukopenia, Ecchymosi...	ORPHA:319213
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy...	OMIM:306000
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Lethargy, Abnorm...	ORPHA:99826
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis	ORPHA:436182
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Inguinal hernia, Small for gestational age, Increased mean pl...	ORPHA:84064
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Failure to thrive, Absent circulating B cells	OMIM:619693
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Small for gestational age, Progressive neurologic deterioration, Hypoglycemia, Optic...	OMIM:618253
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin...	ORPHA:540
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Caspase 8 Deficiency	Failure to thrive, Complete or near-complete absence of specific antibody response to unconjugate...	OMIM:607271
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, In...	OMIM:610947
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Absent specific antibody response, Autoimmune hemolytic anemia, Sever...	OMIM:102700
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f...	ORPHA:247585
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Chédiak-Higashi Syndrome	Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Abnormal bl...	ORPHA:167
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia...	OMIM:214500
Amed Syndrome, Digenic	Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Fail...	OMIM:619151
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen...	ORPHA:2688
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp...	OMIM:617006
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di...	ORPHA:79083
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Increased circulating IgE level, Failure to thrive, Decreased pr...	OMIM:615767
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Neonatal Lupus Erythematosus	Abnormal bleeding, Prolonged QT interval, Hemolytic anemia, Hepatomegaly, Aplastic anemia, Pancyt...	ORPHA:398124
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Congestive heart failure, Inability to walk, Thrombocytopenia, Optic a...	OMIM:617303
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Failure to thrive in infancy, T lymphocytopenia, Decreased circu...	OMIM:619510
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Incr...	OMIM:618495
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men...	OMIM:617443
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Elevated circulating aspar...	OMIM:615558
Bernard-Soulier Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr...	ORPHA:274
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes insipidus, T...	OMIM:598500
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:2348
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin resistance, Insulin-resistant diabetes ...	OMIM:613877
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Hashimoto thyroiditis, Autoimmune thrombocytopenia,...	ORPHA:331235
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Retinal Capillary Malformation	Subretinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters, Epiretinal membr...	ORPHA:71213
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Fast...	ORPHA:264580
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Renal insufficiency, Acute hepatic failure, Elevated hepatic transami...	ORPHA:1667
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to...	OMIM:620210
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Ataxia, Hypoglycemia, Stage 5 chr...	OMIM:617575
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Immunodeficiency 9	Failure to thrive, Hypoplasia of the thymus	OMIM:612782
Gracile Bone Dysplasia	Asplenia, Hypoplastic spleen, Failure to thrive	OMIM:602361
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:618944
Takenouchi-Kosaki Syndrome	Inguinal hernia, Hypospadias, Ataxia, Unilateral renal agenesis, Increased mean platelet volume, ...	OMIM:616737
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ...	ORPHA:98850
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increase...	ORPHA:158048
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Decr...	OMIM:617718
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Hydronephrosis, Increased mean platelet volume	OMIM:300048
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Le...	ORPHA:79282
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Pulmonary embolism, Perianal abscess...	ORPHA:444490
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Proteinuria, Ataxia, Thrombocytopenia, Macrothrombocytopenia, Aminoaciduria...	OMIM:603585
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au...	ORPHA:572
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic ...	OMIM:614700
Lipase Deficiency, Combined	Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis	OMIM:246650
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Spinocerebellar Ataxia, Autosomal Recessive 23	Neutropenia	OMIM:616949
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Thrombocytopenia, Methylmalonic acidu...	OMIM:614857
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction	OMIM:108725
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Confusion, Portal inflammation, Elevated circulating alanine aminotransfera...	OMIM:603471
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Lymphopenia, Hypertriglyceridemia, Lipodystrophy, Th...	OMIM:617591
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hypoglycemia, Hepa...	OMIM:232220
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Waddling gait, Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Micro...	OMIM:251900
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Ataxia, Neonatal hypoglycemia, Tremor, Congestive heart failure, Flexion contr...	OMIM:616271
Obesity Due To Congenital Leptin Deficiency	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti...	ORPHA:66628
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, A...	ORPHA:247598
Congenital Enterovirus Infection	Abnormal bleeding, Abnormal macrophage morphology, Myocarditis, Leukocytosis, Thrombocytopenia, H...	ORPHA:292
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Decreased proportion of naive T ...	ORPHA:276
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Congestive heart failure, A...	ORPHA:528
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Hepatosplenomegaly, Cholestatic liver disease, Granuloma, Hepatic fibrosis, Hemopha...	OMIM:619858
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Acute Promyelocytic Leukemia	Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc...	ORPHA:520
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Opisthotonus, Nephrocalcinosis, C...	ORPHA:445038
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Specific Granule Deficiency 2	Absent neutrophil specific granules, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:617475
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Decreased serum lepti...	ORPHA:179494
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti...	ORPHA:2686
Pearson Syndrome	Hypoparathyroidism, Reticulocytosis, Pancytopenia, Diabetes mellitus, Pancreatic fibrosis, Decrea...	ORPHA:699
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Failure to thrive	OMIM:617585
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ...	ORPHA:71529
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Hyperlipidemia, Increased...	ORPHA:369
Leptospirosis	Papilledema, Pericarditis, Hepatomegaly, First degree atrioventricular block, Cellular urinary ca...	ORPHA:509
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hyperhomocystinemi...	ORPHA:2169
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia...	ORPHA:470
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnorma...	OMIM:226990
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual...	ORPHA:906
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, Lymphadeno...	OMIM:304790
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Atypical or prolong...	ORPHA:83471
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa...	OMIM:619013
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Fanconi-Bickel Syndrome	Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elevated circulating aspartate...	ORPHA:2088
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulati...	ORPHA:169160
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Prolonged bleeding following procedure, Hypoglycemic seizures, Nephrocalcinosis, Hepatic steatosi...	ORPHA:79259
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure to thrive, T...	OMIM:614520
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran...	ORPHA:40923
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia, Male infertility	OMIM:618948
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert...	OMIM:615381
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau...	ORPHA:1414
Isovaleric Acidemia	Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Increased intraabdominal fat, Hepatic steatosis, Hepatom...	ORPHA:280365
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega...	OMIM:151660
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of the tonsils, Thrombocytopenia, Cellulitis, ...	ORPHA:47
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit...	OMIM:614034
Felty Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Weight loss, Bone marrow hypocellularity, Ne...	ORPHA:47612
Necrotizing Enterocolitis	Shock, Hyponatremia, Small for gestational age, Leukocytosis, Peritonitis, Bradycardia, Hypotensi...	ORPHA:391673
Schimke Immuno-Osseous Dysplasia	Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas...	ORPHA:1830
Gaisböck Syndrome	Myocardial infarction, Nephrocalcinosis, Increased circulating renin level, Cholecystitis, Overwe...	ORPHA:90041
Sepsis In Premature Infants	Abnormal bleeding, Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating C-r...	ORPHA:90051
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypomethioninemia, Megaloblastic anemia, Tremor, Cystathioninuria, Hyperhomocystinemia, Neutropen...	OMIM:277400
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Neutropenia	OMIM:618752
Ataxia-Telangiectasia	Elevated hepatic transaminase, Lymphopenia, Diabetes mellitus, Telangiectasia of the skin, Ataxia...	ORPHA:100
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Macular atrop...	OMIM:619418
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy...	ORPHA:275761
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, M...	OMIM:275350
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary adrenal i...	ORPHA:227990
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic ac...	OMIM:251110
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus...	OMIM:214110
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Unilateral renal agenesis, Megaloblastic anemia, Intraventricular hemorrhage, ...	ORPHA:79284
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating IgA level, Decreased circulat...	OMIM:619752
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia	OMIM:614038
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoimmune thro...	ORPHA:227982
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic syndrome, Thromb...	OMIM:611209
Agammaglobulinemia 1, Autosomal Recessive	Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut...	OMIM:601495
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elev...	OMIM:613327
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Hypertension, Diabetic ketoacidosis, Hepatic s...	OMIM:615238
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis...	ORPHA:98907
Seckel Syndrome 10	Retinal detachment, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglo...	OMIM:617253
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati...	ORPHA:98855
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia	OMIM:612528
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Hy...	ORPHA:27
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Wei...	ORPHA:3226
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Megaloblastic anem...	OMIM:277380
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Alstrom Syndrome	Cone/cone-rod dystrophy, Decreased HDL cholesterol concentration, Renal insufficiency, Hypertrigl...	OMIM:203800
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati...	ORPHA:98853
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper...	ORPHA:79124
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Cherry red spot of the macula, Abnormal bleeding, Hepato...	ORPHA:77293
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop...	OMIM:613989
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr...	ORPHA:508533
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-...	ORPHA:79086
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati...	ORPHA:98863
Bleeding Disorder, Platelet-Type, 19	Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men...	OMIM:616176
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti...	OMIM:619644
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Compl...	OMIM:557000
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, D...	OMIM:615122
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Absent peripheral lymph nodes in presence of infection, Abnormal...	ORPHA:98813
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con...	OMIM:302060
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes...	ORPHA:79085
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Renal insufficiency, Hepatomegaly, Ataxia, Epista...	ORPHA:33226
Pgm3-Cdg	Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A...	ORPHA:443811
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Bilateral cryptorchidism, Neutropenia, Failure to t...	OMIM:616395
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec...	ORPHA:381
Hepatoportal Sclerosis	Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Abnormal bleeding, Portal hypertension, Intr...	ORPHA:64743
Leigh Syndrome	Multiple joint contractures, Progressive neurologic deterioration, Choreoathetosis, Complex organ...	ORPHA:506
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis, Hepatic failure	OMIM:177000
Immunodeficiency 22	Decreased circulating IgG level, Abscess, Anemia, Decreased circulating total IgM, Decreased circ...	OMIM:615758
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Schimke Immunoosseous Dysplasia	Waddling gait, Renal insufficiency, Pancytopenia, Transient ischemic attack, Proteinuria, Small f...	OMIM:242900
Chylomicron Retention Disease	Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Acanthocytosis, Increased...	ORPHA:71
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Lymph nod...	OMIM:300755
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Gait ataxia, Macular degeneration, Hep...	ORPHA:48818
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Lymphopenia, Autoimmune hemolytic anemia, Hypouricemia, Increased circulatin...	OMIM:613179
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy...	ORPHA:811
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Hypospadias, Ataxia, Small for gestational age, Neutropenia, Hyper...	OMIM:615471
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia	OMIM:618010
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Inguinal hernia, Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormal...	ORPHA:487796
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Severe B lymphocytopenia, Decreased circulating cortisol level, Decreased resp...	ORPHA:293978
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Developmental And Epileptic Encephalopathy 66	Broad-based gait, Anemia, Neutropenia	OMIM:618067
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Pulmonary embolism, ...	ORPHA:567548
Hypoglossia With Situs Inversus	Asplenia, Polysplenia	OMIM:612776
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli...	OMIM:214900
H Syndrome	Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Microcytic anemia, Abnormal cardiovascula...	ORPHA:168569
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro...	OMIM:608594
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula...	OMIM:243700
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro...	OMIM:269700
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Cohen Syndrome	Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Bull...	OMIM:216550
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Immunodeficiency 40	Hepatomegaly, Eosinophilic granuloma, T lymphocytopenia, Macrovesicular hepatic steatosis, Reduce...	OMIM:616433
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Hyperechogenic pancreas...	OMIM:617052
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Prolonged bleeding time, Absent platelet dense granules, Splenomegaly, Impaired ADP...	OMIM:608233
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:232400
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea...	ORPHA:3261
Hypertriglyceridemia 1	Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Evans Syndrome	Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre...	ORPHA:1959
Microphthalmia, Syndromic 9	Neonatal death, Cryptorchidism, Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Relapsing Fever	Abnormal bleeding, Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated ...	ORPHA:91547
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Small for gest...	OMIM:260400
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Refractory Anemia With Excess Blasts	Abnormal bleeding, Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of ...	ORPHA:86839
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia, Hypoalbum...	ORPHA:37042
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Increased circulating IgA level, Leukocytosis, Lympha...	OMIM:617099
Developmental Delay, Hypotonia, And Impaired Language	Cryptorchidism, Neutropenia	OMIM:620012
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Proteinuria, Raynaud phenomenon, Micr...	OMIM:192315
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Thrombocytopenia, Hyperinsulinemia, Dysmetria, Supravalv...	OMIM:620185
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,...	OMIM:620005
Fusariosis	Brain abscess, Fasciitis, Lung abscess, Abnormal retinal morphology, Abnormality of the spleen, P...	ORPHA:228119
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Agammaglobulinemia, Neutropenia, Cutaneo...	OMIM:209920
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Hepatic steatosis, Decreased proportion of...	OMIM:619573
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Increased circulating IgM level, Failure to thrive, Reduced natural killer cel...	OMIM:242860
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide...	OMIM:615980
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Hepatitis, Rectal abscess, Hypoplasia of the thymus, Type I diabetes...	ORPHA:436252
Vitreoretinopathy, Neovascular Inflammatory	Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Po...	OMIM:193235
Autosomal Agammaglobulinemia	Agammaglobulinemia, Failure to thrive, Hepatitis, Neutropenia	ORPHA:33110
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Ataxia, Elevated circul...	ORPHA:50918
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Tremor, Congestive heart failur...	ORPHA:525731
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Weight loss, Decreased circulating antibody...	ORPHA:90362
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p...	ORPHA:760
Smith-Magenis Syndrome	Retinal detachment, Hypertriglyceridemia, Failure to thrive in infancy, Abnormality of the ureter...	ORPHA:819
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight...	OMIM:616222
Immunodeficiency 23	Hemolytic anemia, Failure to thrive, Eosinophilia, Abscess, Increased circulating IgE level, Incr...	OMIM:615816
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Crypto...	OMIM:227650
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cho...	ORPHA:293173
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb...	OMIM:124900
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Dystonia, Splenomegaly, Ocular albinism, Neutropenia	OMIM:617050
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Ne...	ORPHA:391487
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr...	OMIM:277460
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulo...	OMIM:600901
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage, Gait disturbance	ORPHA:88619
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus	OMIM:617022
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Chronic pa...	OMIM:232240
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Diabetes mellitus, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia	OMIM:613845
Vici Syndrome	Lymphopenia, Failure to thrive, Elevated circulating creatine kinase concentration, Macular atrop...	OMIM:242840
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Prostatitis, Absent...	OMIM:307200
Smith-Magenis Syndrome	Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight	OMIM:182290
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Neutropenia, Renal hypoplasia, Horseshoe kidney, Bone marrow hypocellular...	OMIM:609053
Poikiloderma With Neutropenia	Elevated circulating creatine kinase concentration, Splenomegaly, Telangiectasia, Leukopenia, Neu...	OMIM:604173
Neonatal Alloimmune Neutropenia	Jaundice, Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes	ORPHA:464370
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Decreased adipose t...	OMIM:606721
Werner Syndrome	Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentr...	OMIM:277700
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulo...	OMIM:227645
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C...	ORPHA:54251
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Angina pectoris, Acu...	ORPHA:412
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi...	ORPHA:829
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:611783
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Aspergillosis	Eosinophilia, Vitritis, Hepatitis, Intracranial hemorrhage, Neutropenia	ORPHA:1163
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Steatorrhea, Prolonged prothrombin time...	OMIM:617941
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ...	OMIM:269200
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hepatomegaly, Ataxia, Portal h...	OMIM:615688
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:617907
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomer...	OMIM:603278
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, ...	ORPHA:845
Zygomycosis	Fasciitis, Neutropenia, Nephritis, Brain abscess, Mediastinal lymphadenopathy, Hepatitis, Hematoc...	ORPHA:73263
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Ataxia, Myocarditis, Splenomegaly, ...	ORPHA:549
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Broad-based gait, Inguinal hernia, Ataxia, Diabetes mellitus, Unilateral renal agene...	OMIM:616541
Cockayne Syndrome Type 3	Progressive neurologic deterioration, Flexion contracture, Retinal degeneration, Intention tremor...	ORPHA:90324
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Premature ovarian insufficienc...	OMIM:240300
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Irritability, Gly...	ORPHA:2089
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Lymphopenia, Tricuspid regurgitation, Renal hypoplasia, Renal cyst, Corneal...	OMIM:618460
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Cockayne Syndrome	Urinary incontinence, Progressive gait ataxia, Retinal arteriolar constriction, Congenital contra...	ORPHA:191
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A...	ORPHA:209902
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Sudden cardiac death, Renal tubular ac...	ORPHA:156
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity	OMIM:617885
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M...	OMIM:256040
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma...	OMIM:127550
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati...	OMIM:615415
Sneddon Syndrome	Cerebral hemorrhage, Tremor, Hypertension, Atrophic scars, Ischemic stroke, Mental deterioration,...	OMIM:182410
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Retinal c...	ORPHA:790
Abcd Syndrome	Neonatal death, Polycythemia, Large for gestational age	OMIM:600501
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Urinary incontinence...	OMIM:268800
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pan...	ORPHA:98908
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Ectopic kidney, Thrombocytopenia, Annular pancreas, Reti...	OMIM:227646
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi...	OMIM:187900
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis	OMIM:247800
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Hand tremor, Gait disturbance, Hyperglycemia, Mildly elevated creatine kinase	OMIM:604484
Digeorge Syndrome	Hepatic steatosis, Parathyroid agenesis, Impaired T cell function, Decreased circulating parathyr...	OMIM:188400
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Chole...	OMIM:300972
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Abnormal T cell subset distribution, Decreased circulating antibody level, Decreased circulating ...	ORPHA:221139
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Hypoth...	OMIM:607944
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Premature ovarian insufficiency, Dysgammaglobulinemia, T lymphocytop...	OMIM:251260
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Elevated hepatic transam...	ORPHA:537
Thrombocytopenia 1	Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility...	OMIM:313900
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia	OMIM:613177
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Tremor, Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal...	ORPHA:25
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Hepatomegaly, Heart block, Abnormality of the pancreas, Card...	ORPHA:175
Storage Pool Platelet Disease	Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Elevated circulating creatine kinase concentration, Supraventricular arrhyth...	OMIM:611773
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Eosinophilia,...	ORPHA:98849
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden...	OMIM:619381
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility	ORPHA:244
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Decreased circulating antibody level, Neutropenia,...	ORPHA:51636
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat...	OMIM:301074
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal bleeding, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma	ORPHA:1116
Treacher-Collins Syndrome	Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia of the thymus, Failure to thrive, T...	ORPHA:861
Trichothiodystrophy	Multiple joint contractures, Absence of subcutaneous fat, Increased mean corpuscular hemoglobin c...	ORPHA:33364
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Erythrocytosis, Familial, 2	Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Failure to thrive, Ele...	OMIM:263400
Alagille Syndrome 1	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Multiple small med...	OMIM:118450
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia, Nephrocalcinosis, Neutropenia, Joint contracture, Failure to thrive	OMIM:618005
Hermansky-Pudlak Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Abnormality of th...	ORPHA:79430
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy...	ORPHA:31150
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hyperthyroidism, Impaired T cell function, Abnormality of the tonsils, Crypto...	ORPHA:567
Glycogen Storage Disease Ia	Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Proteinuria, Hypoglycemia, Hyperl...	OMIM:232200
Fraser Syndrome 2	Hypoplasia of the thymus	OMIM:617666
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia	ORPHA:329249
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion...	ORPHA:189427
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Hyphema, Retinal nonattachment, Retinal fold, Iris coloboma	OMIM:221900
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Diabetes ...	ORPHA:125
Methanol Poisoning	Confusion, Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atria...	ORPHA:31825
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr...	ORPHA:91500
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec...	OMIM:618935
Staphylococcal Necrotizing Pneumonia	Shock, Neutrophilia, Diabetes mellitus, Confusion, Elevated circulating C-reactive protein concen...	ORPHA:36238
Uveal Melanoma	Retinal detachment, Vitreous hemorrhage, Abnormal fundus morphology	ORPHA:39044
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	OMIM:615952
Ciliary Dyskinesia, Primary, 1	Asplenia, Male infertility	OMIM:244400
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Hypospadias, Pure red cell aplasia, Thrombocyt...	ORPHA:124
Rift Valley Fever	Abnormal bleeding, Elevated hepatic transaminase, Retinitis, Hematemesis, Thrombocytopenia, Jaund...	ORPHA:319251
Thrombocytopenia 3	Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume	OMIM:273900
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Immunodeficiency 44	Lymphopenia, Elevated circulating alanine aminotransferase concentration	OMIM:616636
Macrocephaly/Autism Syndrome	Hepatomegaly, Short attention span, Penile freckling, Large for gestational age, Splenomegaly, Ob...	OMIM:605309
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Optic...	ORPHA:193
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, D...	ORPHA:83617
Cardiofacioneurodevelopmental Syndrome	Asplenia, Cryptorchidism, Abdominal situs inversus	OMIM:619123
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Eec Syndrome	Anterior hypopituitarism, Hypoplasia of the thymus, Decreased response to growth hormone stimulat...	ORPHA:1896
3-Methylglutaconic Aciduria, Type Viii	Tremor, Jaundice, Neutropenia, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Bradycardi...	OMIM:617248
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Heart block, Red-brown urine, Tubulointerstit...	ORPHA:228308
Proteus-Like Syndrome	Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries	ORPHA:2969
Alg12-Cdg	Decreased serum insulin-like growth factor 1, Partial absence of specific antibody response to Ha...	ORPHA:79324
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Proteinuria, Elevated hemog...	OMIM:619127
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris	OMIM:614025
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat...	ORPHA:565612
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Intellectual Developmental Disorder, Autosomal Dominant 54	Small for gestational age, Ataxia, Inability to walk, Irritability, Urinary retention, Neutropenia	OMIM:617799
Bacterial Toxic-Shock Syndrome	Fasciitis, Elevated circulating creatine kinase concentration, Increased circulating myelocyte co...	ORPHA:36234
Monosomy 22	Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly	ORPHA:96123
Stiff-Person Syndrome	Tachycardia, Exaggerated startle response, Diabetes mellitus, Opisthotonus, Depression, Hypertens...	OMIM:184850
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Ebola Hemorrhagic Fever	Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia...	ORPHA:319218
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Congestive heart failure, Intracranial hemorrhage, Hypertensio...	ORPHA:363618
Avian Influenza	Elevated hepatic transaminase, Lymphopenia, Elevated circulating creatine kinase concentration, E...	ORPHA:454836
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Juvenile Xanthogranuloma	Hyphema, Myeloproliferative disorder	ORPHA:158000
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal bleeding, Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Sandhoff Disease, Infantile Form	Cherry red spot of the macula, Mitral regurgitation, Exaggerated startle response, Hepatosplenome...	ORPHA:309155
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Failure to thrive, Hypertriglyceridemia, Telangiectasia of t...	ORPHA:79474
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Choroidal neovascularization, Congestive heart fail...	OMIM:264800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Phacoanaphylactic Uveitis	Hyphema, Abnormal vitreous humor morphology, Vitritis, Retinal arteritis, Macular edema, Vitreore...	ORPHA:209959
Glycerol Kinase Deficiency	Increased urinary glycerol, Small for gestational age, Hypertriglyceridemia, Hyperglycerolemia, C...	OMIM:307030
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris	ORPHA:140905
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil...	ORPHA:3260
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Incontinentia Pigmenti	Retinal detachment, Telangiectasia of the skin, Abnormal chorioretinal morphology, Eosinophilia, ...	ORPHA:464
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Ataxia, Optic atrophy, Irritability, Joint contracture, Failure to ...	OMIM:616881
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Elevated circulating creatine kinase concentration, Flexion contractur...	OMIM:615368
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A...	ORPHA:758
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Rayna...	OMIM:615934
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux, Webbed penis, Micrope...	ORPHA:261552
Microsporidiosis	Brain abscess, Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid g...	ORPHA:2552
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Ir...	OMIM:617864
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Stiff Person Spectrum Disorder	Exaggerated startle response, Diabetes mellitus, Falls, Difficulty walking, Emotional lability	ORPHA:3198
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Hyper...	ORPHA:35909
Rothmund-Thomson Syndrome Type 1	Calcinosis, Aplastic anemia, Small for gestational age, Abnormal dental enamel morphology, Telang...	ORPHA:221008
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactiv...	OMIM:612852
Griscelli Syndrome Type 1	Hyperlipidemia, Retinopathy, Ataxia	ORPHA:79476
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Emotional lability, Ch...	OMIM:608643
Sweeney-Cox Syndrome	Asplenia, Bilateral cryptorchidism	OMIM:617746
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Inability to walk, Flexion contracture, Optic at...	OMIM:609541
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Tremor, Wide penis, Vesicoureteral reflux, Dilatation of renal calices, He...	ORPHA:3455
Diamond-Blackfan Anemia 1	Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R...	OMIM:105650
Rothmund-Thomson Syndrome	Small for gestational age, Aplastic anemia, Infertility, Neutropenia, Leukemia, Anemia	ORPHA:2909
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Micropenis, Hepati...	ORPHA:64
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo...	ORPHA:1572
Reynolds Syndrome	Calcinosis, Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Raynaud phe...	OMIM:613471
Thauvin-Robinet-Faivre Syndrome	Inguinal hernia, Transient neutropenia, Large for gestational age, Renal cyst, Coloboma, Retinal ...	OMIM:617107
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Hematochezia, Coloboma, Hypoalbuminemia, Hypocalcem...	OMIM:618183
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Raynaud phenomenon, Lymphadenopathy, Hematuria, Nep...	ORPHA:93552
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip...	OMIM:248370
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia, Cognitive impairment	ORPHA:364
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, L...	OMIM:260920
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Yellow Fever	Anuria, Elevated circulating creatine kinase concentration, Internal hemorrhage, Abnormal bleedin...	ORPHA:99829
Xp21 Deletion Syndrome	Hypertriglyceridemia, Confusion, Elevated circulating creatine kinase concentration	ORPHA:261476
Cushing Disease	Myocardial infarction, Increased body weight, Ecchymosis, Leukocytosis, Depression, Increased cir...	ORPHA:96253
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Hypospadias, Micropenis, Neutropenia, Vesicoureteral reflu...	ORPHA:163956
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Diff...	ORPHA:320406
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Transient neutropenia, Inguinal hernia, Chronic neutropenia, Large ...	ORPHA:500095
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Hepatosplenomegaly, Cardiomyopathy, Urinary glycosaminoglycan excre...	ORPHA:79255
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Mosaic Trisomy 9	Asplenia, Cryptorchidism, Abnormal liver lobulation	ORPHA:99776
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Diabetes mellitus, ...	ORPHA:536532
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosis, Conge...	ORPHA:369837
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration	OMIM:614204
Wiedemann-Rautenstrauch Syndrome	Small for gestational age, Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone...	OMIM:264090
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Thrombocytopenia, Thyroiditis, Biliary cirrhosis, Ly...	ORPHA:289390
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ...	ORPHA:439232
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi...	OMIM:608612
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Thrombocytopenia, Type I diabetes mellitus, Lymphopenia, Anemia	OMIM:620365
Rothmund-Thomson Syndrome Type 2	Calcinosis, Aplastic anemia, Small for gestational age, Abnormal dental enamel morphology, Neutro...	ORPHA:221016
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Psychomotor deterioration, Inguinal hernia, Lipodystrophy, Subretinal pigment epithelium hemorrha...	ORPHA:357074
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Hypospadias, Hyperlipidemia, Obesity, Mitral regurgitation, Arthrogryposis ...	ORPHA:254346
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Eosinophilia, Scarring, Retinal vascular proliferati...	OMIM:308300
Retinoblastoma	Vitritis, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia	OMIM:180200
Truncus Arteriosus	Adrenocortical abnormality, Hypoplasia of the thymus	ORPHA:3384
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Exaggerated startle response, Elevated circulating creatine kinase concentrat...	OMIM:253800
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia	OMIM:619657
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Congenital hypothyroidism, Decreased circulating IgG level, Neutropenia	OMIM:271510
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Proteinuria, Remnants of the hyaloid vascular sy...	OMIM:609049
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Familial Multiple Lipomatosis	Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Chorioretinitis, Col...	ORPHA:199276
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Small for gestational age, Ataxia, Scarring, Microcytic anemia, Leuko...	ORPHA:99843
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Depression...	ORPHA:324
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Cognitive impairment, Dystonia, Che...	ORPHA:309246
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss, Gra...	OMIM:608710
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Angioid st...	OMIM:177850
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma...	OMIM:256300
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Depression	OMIM:620114
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Head titubation, Optic atrophy, Dysmetria, Knee flexion contracture, Dystonia, Lymphopeni...	OMIM:619708
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Feingold Syndrome 1	Asplenia, Annular pancreas, Polysplenia, Accessory spleen	OMIM:164280
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Cryptorchidism, Pancreatic cysts, Congenital hep...	ORPHA:564
Acute Radiation Syndrome	Abnormal bleeding, Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia	ORPHA:454831
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Dystonia	ORPHA:438216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir...	OMIM:614643
Secondary Intestinal Lymphangiectasia	Lymphopenia, Right ventricular failure, Reduced circulating transferrin concentration, Intestinal...	ORPHA:90363
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Vacuolated lymphocytes, Mitral regurgitation, Hernia, Neutr...	OMIM:208400
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula...	OMIM:144250
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Retinal Arteries, Tortuosity Of	Retinal arteriolar tortuosity, Retinal hemorrhage	OMIM:180000
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Paraganglioma, ...	OMIM:193300
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Trichinellosis	Confusion, Retinal hemorrhage, Central retinal artery occlusion, Memory impairment, Irritability,...	ORPHA:863
Cushing Syndrome Due To Ectopic Acth Secretion	Myocardial infarction, Pancreatoblastoma, Neoplasm of the thymus, Increased body weight, Ecchymos...	ORPHA:99889
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Hypospadias	OMIM:610644
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia, Failure to thrive	OMIM:306955
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c...	OMIM:619767
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Elevated hepatic transaminase, Dysuria, Renal tubular epithelial necro...	ORPHA:95455
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia	OMIM:618056
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Meckel Syndrome, Type 1	Accessory spleen, Adrenal hypoplasia, Malformation of the hepatic ductal plate, Asplenia, Cryptor...	OMIM:249000
Pseudoaminopterin Syndrome	Asplenia, Cryptorchidism	ORPHA:221120
Tetraamelia Syndrome 1	Asplenia, Adrenal gland agenesis	OMIM:273395
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni...	OMIM:620186
Tay-Sachs Disease	Psychomotor deterioration, Cherry red spot of the macula, Exaggerated startle response, Dementia	OMIM:272800
Asparagine Synthetase Deficiency	Exaggerated startle response, Optic nerve hypoplasia, Tremor, Irritability, Failure to thrive, Hy...	OMIM:615574
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Perianal abscess, Leukocytosis, Recurrent tonsillitis, Peritonitis, Vagin...	ORPHA:2968
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Inguinal hernia, Abnormality of the pancreas, Cognitive impairment, Lymphopenia, Anemia	ORPHA:935
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Flexion contracture, Optic atrophy, Elbow flexion ...	OMIM:617301
Hennekam Syndrome	Camptodactyly of finger, Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidn...	ORPHA:2136
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Transient ischemic attack, Choroidal neovascularization, Failure to thrive in ...	ORPHA:51608
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Optic atrophy, Contractures of the large joints, Cognitive impairme...	OMIM:617527
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Failure to thrive, Flexion contracture	OMIM:618201
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Limb joint contracture, Hydronephrosis	OMIM:620327
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Hyperekplexia 3	Exaggerated startle response, Syncope, Hiatus hernia	OMIM:614618
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Partial development of the penile shaft, Bradycardia	OMIM:608800
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Annular pancreas, Pulmonary lymphangiectasia, Neonatal death	OMIM:265380
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Dystonia, Elevated circulating creatine kinase concentration, Cerebral hemorrha...	OMIM:175780
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Unsteady gait, A...	ORPHA:637
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Exaggerated startle response, Broad-based gait, Uterine prolapse, Decreased se...	ORPHA:438213
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Optic atrophy, Contractures of the large joints, Dystonia, Failure ...	ORPHA:521426
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia	OMIM:614653
Heterotaxy, Visceral, 5, Autosomal	Asplenia, Abdominal situs ambiguus, Abdominal situs inversus	OMIM:270100
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic nerve hypoplasi...	OMIM:603671
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dementia, Dystonia	OMIM:272750
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Neo...	ORPHA:744
Hyperekplexia 2	Exaggerated startle response, Hiatus hernia	OMIM:614619
Sponastrime Dysplasia	Small for gestational age, Precocious puberty, Decreased circulating antibody level, Neutropenia,...	ORPHA:93357
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response, Optic atrophy	OMIM:617281
Hyperekplexia 1	Umbilical hernia, Exaggerated startle response, Inguinal hernia	OMIM:149400
Aromatase Deficiency	Eunuchoid habitus, Hyperlipidemia, Insulin resistance, Obesity, Type II diabetes mellitus, Hepati...	ORPHA:91
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St...	ORPHA:567546
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ...	ORPHA:79098
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Flexion contracture, Co...	OMIM:300166
Woodhouse-Sakati Syndrome	Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Choreoathetosis, Dystonia,...	ORPHA:3464
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy	ORPHA:90154
Norrie Disease	Retinal detachment, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of the hyaloid...	ORPHA:649
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Optic neuropathy, Hyperlipidemia, H...	ORPHA:391665
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Woodhouse-Sakati Syndrome	Diabetes mellitus, Hyperlipidemia, Choreoathetosis, Dystonia, Abnormal T-wave, Micropenis	OMIM:241080
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Hyperlipidemia, Hyperkalemia, Obesity, Depression, E...	ORPHA:293987
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Cryptorchidism, Decreased circulating antibody level, Hydrocele testis, Chordee, Failur...	ORPHA:261537
Mowat-Wilson Syndrome	Asplenia, Cryptorchidism, Decreased circulating antibody level, Hydrocele testis, Chordee, Oligom...	ORPHA:2152
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Lens coloboma, Attention defici...	OMIM:619539
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Exaggerated startle response, Hypospadias, Urinary incontinence, Grade III ve...	OMIM:619522
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response	OMIM:618367
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170

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
Spleen - MPATH pathological process term atrophy	Msi2^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 Msi2.

No publications found that use IMPC mice or data for Msi2.

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MGI Allele	Allele Type	Produced
Msi2^em1(IMPC)Mbp	Exon Deletion	Mice
Msi2^{tm353468(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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: Msi2 MGI:1923876

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Msi2 mutations

Histopathology

IMPC related publications

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