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Gene: Snrnp40 MGI:1913835

Gene Summary

Name:

small nuclear ribonucleoprotein 40 (U5)

Synonyms:

Wdr57, 0610009C03Rik

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	System	Allele	Zyg	Sex	Life Stage	P Value
preweaning lethality, complete penetrance		Snrnp40^em1(IMPC)Bay	HOM		Early adult	0.00

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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.

Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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Human diseases caused by Snrnp40 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 Snrnp40 (0 diseases)
Human diseases predicted to be associated with Snrnp40 (533 diseases)

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

The table below shows human diseases predicted to be associated to Snrnp40 by phenotypic similarity.

Disease	Matching phenotypes	Source
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Immunodeficiency 18	Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo...	OMIM:615206
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Immunodeficiency 15B	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Fai...	OMIM:615592
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	OMIM:619802
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure...	OMIM:617514
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections...	OMIM:301082
Agammaglobulinemia 7, Autosomal Recessive	Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin...	OMIM:615214
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Reduced natural killer c...	OMIM:300400
Immunodeficiency 32B	Hypoalbuminemia, Recurrent infections, Failure to thrive, BCGitis, Impaired oxidative burst, Abno...	OMIM:226990
Immunodeficiency 20	Reduced natural killer cell count, BCGitis, Recurrent otitis media, Reduced natural killer cell a...	OMIM:615707
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Combined Immunodeficiency, X-Linked	Pneumocystis carinii pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased...	OMIM:312863
Immunodeficiency 69	Hemophagocytosis, BCGitis, Increased circulating ferritin concentration, Failure to thrive, Hepat...	OMIM:618963
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell activity, Decre...	OMIM:619281
Immunodeficiency 48	Pneumocystis carinii pneumonia, Failure to thrive, Recurrent candida infections, Panhypogammaglob...	OMIM:269840
Reticular Dysgenesis	Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag...	OMIM:267500
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Adult Idiopathic Neutropenia	Lymphopenia, Helicobacter pylori infection, Recurrent fungal infections, Monocytopenia, Neutropen...	ORPHA:2688
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr...	OMIM:616050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec...	ORPHA:169154
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy...	OMIM:617241
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Immunodeficiency 8 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent otitis media, Lymphopenia, Complete or ne...	OMIM:615401
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal...	ORPHA:276
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Anemia of...	OMIM:617780
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Immunodeficiency 27A	Hypoalbuminemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, ...	OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Increased circulating ferritin co...	OMIM:613101
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Abnormal natural killer cell count, Increased circulati...	OMIM:212050
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Immunodeficiency 21	Reduced natural killer cell count, Recurrent viral infections, Recurrent mycobacterium avium comp...	OMIM:614172
Immunodeficiency 15A	Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Rec...	OMIM:618204
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Anemia, Hypertriglyceridemia, Reduced natural killer cell a...	OMIM:608898
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ...	OMIM:613495
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Chronic infection, Abnormal erythroc...	ORPHA:86841
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo...	OMIM:300853
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, T lymphocytopenia, Anemia, Thrombocytopenia, B lymphocyt...	ORPHA:169079
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, In...	OMIM:619313
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis	ORPHA:169095
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Elevated haptoglobi...	OMIM:620632
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Recurrent respiratory infections, Lymphopenia, Leukopenia, Follicular hyperpla...	OMIM:615934
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Splenomegaly, Follicular hyperp...	OMIM:614470
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Immunodeficiency 50	Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D...	OMIM:300988
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent upper respiratory tract infections, Recurrent pneumonia, Absence of lymph node germinal...	ORPHA:277
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Agammaglobulinemia 3, Autosomal Recessive	Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circu...	OMIM:613501
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos...	ORPHA:158057
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Decreased lymph...	ORPHA:35078
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Immunodeficiency 92	Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res...	OMIM:619652
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer cells, Fail...	OMIM:600802
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent pneumonia, Recurrent viral infections, Sepsis, Severe viral infection, Cutaneous absces...	OMIM:243700
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt...	OMIM:233650
Omenn Syndrome	Severe B lymphocytopenia, Recurrent viral infections, Alopecia, Failure to thrive, Splenomegaly, ...	OMIM:603554
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:619752
Immunodeficiency 62	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased proporti...	OMIM:618459
Immunodeficiency 54	Reduced natural killer cell count, Recurrent viral infections, Failure to thrive, Adrenal insuffi...	OMIM:609981
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Lymphopenia, Hepatos...	ORPHA:331206
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o...	ORPHA:911
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ...	OMIM:616941
Pgm3-Cdg	Recurrent viral infections, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia,...	ORPHA:443811
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, BCGitis, Lymphopenia, Decreased circulating I...	OMIM:612782
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Reduced delayed hypersensitivit...	OMIM:607624
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Vitiligo, Follicular hyperplas...	OMIM:619846
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r...	OMIM:619773
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-pos...	ORPHA:572
Hermansky-Pudlak Syndrome 2	Albinism, Recurrent pneumonia, Reduced natural killer cell count, Enlarged platelet dense granule...	OMIM:608233
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Immunodeficiency 104	Chronic mucocutaneous candidiasis, Failure to thrive secondary to recurrent infections, Recurrent...	OMIM:608971
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial...	OMIM:613500
Caspase 8 Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Decreased CD...	OMIM:607271
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Elevated ci...	OMIM:604416
Immunodeficiency 17	Abnormal B cell morphology, Failure to thrive, Chronic decreased circulating IgG2, Recurrent otit...	OMIM:615607
Immunodeficiency 19	Abnormal B cell morphology, Severe viral infection, Abnormal natural killer cell morphology, Fail...	OMIM:615617
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia,...	OMIM:601457
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Recurrent infections, Decreased circulating antib...	OMIM:616911
Immunodeficiency 116	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs...	OMIM:608957
Selective Igm Deficiency	Lymphadenitis, Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess,...	ORPHA:331235
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Intestinal lymphangiectasia, Iron deficiency anemia, Hypothyroidism, Thrombocyto...	OMIM:226300
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func...	OMIM:607594
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Agammaglobulinemia, Hypoplasia of the thy...	OMIM:243150
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Increased...	OMIM:606367
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level, T lymphocy...	OMIM:242860
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Meningitis, Decreased lymphocyte proliferation in response to mitogen, Opp...	ORPHA:83471
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func...	OMIM:240500
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans...	OMIM:619707
Immunodeficiency, Common Variable, 13	Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio...	OMIM:616873
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency 44	Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A...	OMIM:616636
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Decreased ...	ORPHA:221139
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection...	OMIM:602450
Heme Oxygenase 1 Deficiency	Sepsis, Increased circulating interleukin 6 concentration, Increased circulating ferritin concent...	OMIM:614034
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections, Monocytopenia, Neutropenia	ORPHA:86788
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Ataxia-Telangiectasia	Decreased circulating IgG level, Female hypogonadism, Defective B cell differentiation, Failure t...	OMIM:208900
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgE level, Recurr...	ORPHA:217390
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Ridged nail, Nail dystrophy, Decreased helper T cell proportion, T lymphocytopenia, Nai...	OMIM:601705
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Recurrent viral infections, Failure to thrive, Abnormal c...	OMIM:618048
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti...	ORPHA:79124
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Decreased T...	OMIM:618213
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased total bilirubin, Increased circul...	OMIM:603553
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Syndromic Diarrhea	Panhypogammaglobulinemia, Trichorrhexis nodosa, Lymphopenia, Brittle hair, Splenomegaly, Hypoplas...	ORPHA:84064
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulating antibody ...	ORPHA:397596
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent sinusitis,...	OMIM:613494
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection...	OMIM:618806
Immunodeficiency 25	Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n...	OMIM:610163
Anemia, Congenital Dyserythropoietic, Type Ib	Small nail, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, R...	OMIM:615631
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Molluscum contagiosum, Recurrent ot...	OMIM:618982
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Abnormal hair morphology, Lymphopen...	OMIM:152800
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect...	OMIM:242700
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin...	OMIM:613673
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Hemophagocytosis, Abnormality of tumor necrosis factor secretion, Increased circ...	ORPHA:540
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Weight loss, Lymphaden...	ORPHA:100024
Ataxia-Telangiectasia	Failure to thrive, Aplasia/Hypoplasia of the thymus, Premature graying of hair, Lymphopenia, Type...	ORPHA:100
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Waardenburg Syndrome, Type 2B	Heterochromia iridis, White forelock, Premature graying of hair	OMIM:600193
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Immunodeficiency 67	Recurrent staphylococcal infections, Abnormal T cell count, Abnormal natural killer cell count, I...	OMIM:607676
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ...	OMIM:616860
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph...	OMIM:619164
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte ...	ORPHA:169160
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Melanocytic nevus, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Wiskott-Aldrich Syndrome	Increased circulating IgE level, Recurrent otitis media, Abnormal delayed hypersensitivity skin t...	OMIM:301000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Type I diabetes mellitus, Recurrent otitis media, Lymphopenia, Pancy...	OMIM:615688
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Failure to thrive, Increased circulating ...	OMIM:615767
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis...	ORPHA:67044
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Aplasia of the thymus, ...	OMIM:102700
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level, Hypoproteinemia, Abnormal hair quantity	ORPHA:1116
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Hemophagocytic Syndrome Associated With An Infection	Histoplasmosis, Invasive fungal infection, Severe viral infection, Increased circulating ferritin...	ORPHA:158048
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Increased circulating ...	OMIM:301074
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tr...	OMIM:614069
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating ferritin concentration, Increased circulat...	OMIM:620603
Poems Syndrome	Polycythemia, Increased circulating prolactin concentration, Hypertrichosis, Hypogonadism, Leukon...	ORPHA:2905
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Recurrent upper respiratory tract infections, Recurrent viral infections, Decreased...	OMIM:613179
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane...	OMIM:601859
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, ...	ORPHA:444463
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Cutaneous abscess,...	OMIM:618944
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Bone marrow hypocellularity, T...	OMIM:301078
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased circulating IgE level, Recurrent otitis media, Hypopituitarism, Abnormal immunoglobulin...	ORPHA:98813
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Albinism-Deafness Syndrome	Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism	OMIM:300700
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Failure to thrive, Recurrent urinary tract infections, Recurrent otitis m...	OMIM:618495
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl...	OMIM:620210
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Nail dystrophy, B l...	OMIM:620133
Immunodeficiency 84	Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV...	OMIM:619437
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Severe viral infection, Hemophagocytosis, Failure to thrive, Hepatosplenomeg...	OMIM:619644
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Decreased lymphocyte proliferation in response to mitogen, Reduced natural kille...	OMIM:619381
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Celiac Disease, Susceptibility To, 1	Alopecia, Type I diabetes mellitus, Failure to thrive, Decreased circulating IgA level, Hypocalce...	OMIM:212750
Reticular Dysgenesis	Sepsis, Abnormality of neutrophils, Failure to thrive, Aplasia/Hypoplasia of the thymus, Leukopen...	ORPHA:33355
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho...	OMIM:615518
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent viral infections, Recurrent otitis media, Alopecia totalis, Recurrent bronchitis, Recur...	ORPHA:293978
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Failure to thrive, Recurrent respiratory infections, Hepatosplen...	OMIM:618278
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231226
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio...	OMIM:222470
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent otitis media, Pancytopenia, Autoimmune thrombocytopenia, Chronic neutropenia, Vitiligo,...	OMIM:614700
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Bone spicule ...	OMIM:616959
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Immunodeficiency 46	Sepsis, Failure to thrive, Intermittent thrombocytopenia, Recurrent sinopulmonary infections, Neu...	OMIM:616740
Immunodeficiency 42	Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, BCGosis, Chronic o...	OMIM:616622
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Neutropenia, Recurrent lower respiratory tract i...	OMIM:612541
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low...	OMIM:308230
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Premature gray...	OMIM:619767
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia, Recurrent ba...	OMIM:619693
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac...	OMIM:300835
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, ...	OMIM:603909
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Neutropenia,...	OMIM:300755
Macrophage Activation Syndrome	Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki...	ORPHA:158061
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Failure to thrive, Impaired T cell function, Anisocytos...	OMIM:258900
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Immunodeficiency 40	Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Reduced antigen-specific T c...	OMIM:616433
Hemochromatosis, Type 3	Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen...	OMIM:604250
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia,...	OMIM:150550
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Recurrent respiratory infectio...	OMIM:618116
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ...	ORPHA:275
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron...	ORPHA:98870
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Opportunistic infection, Hypomagnesemia, Crypto...	ORPHA:90362
Candidiasis, Familial, 1	Cutaneous anergy, Alopecia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Abnorm...	OMIM:114580
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema...	OMIM:617006
Obesity And Hypopigmentation	Red hair, Obesity	OMIM:620195
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Lymphopeni...	OMIM:616100
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Brucellosis	Granuloma, Failure to thrive, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Infectious e...	ORPHA:1304
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Recurrent viral infections, Intraalveolar phospholipid accumulation, Increased circulating IgE le...	OMIM:620565
Immunodeficiency 22	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Failure to thrive,...	OMIM:615758
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De...	OMIM:616098
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve...	ORPHA:71275
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi...	OMIM:301310
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Rectal abscess, Panhypo...	OMIM:601495
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Autosomal Dominant Severe Congenital Neutropenia	Recurrent viral infections, Aplastic anemia, Leukemia, Lymphopenia, Recurrent infection of the ga...	ORPHA:486
Macrocephaly/Autism Syndrome	Coarse hair, Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Splenomegal...	OMIM:605309
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet...	ORPHA:66628
Immunodeficiency 68	Sepsis, Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, Recurrent ...	OMIM:612260
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Beta-Ketothiolase Deficiency	Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis	ORPHA:134
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet...	ORPHA:179494
Vici Syndrome	Recurrent viral infections, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Neu...	OMIM:242840
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis, Anemia	ORPHA:20
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Hypopigmentation of the skin, Leukopenia, Erythroid hyperplasia, Abnormal ...	ORPHA:79277
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Decreased circulating IgG level, Failure to thrive, Hypocholesterolemia, Decreas...	OMIM:212065
Systemic Lupus Erythematosus 17	Alopecia, Lymphopenia, Leukopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Bilateral cryptorchidism, Trichorrhexis nodosa, Lymphopenia, Tiger tail bandin...	OMIM:616395
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Meningitis, Abnormal proportion of CD4-positive T c...	ORPHA:217260
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Failure to thrive, Anisocytosis	OMIM:604273
Griscelli Syndrome	Silver-gray hair, Bone marrow hypocellularity, Iris hypopigmentation, Hypopigmented skin patches,...	ORPHA:381
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil anti...	ORPHA:231154
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Elevated circulating creatinine concentration, Recurrent infection of the gastrointe...	OMIM:301110
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Splenomegaly, Increased circulating antibody level, Lymphadenopat...	OMIM:617591
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Congenital Disorder Of Glycosylation, Type Iir	Recurrent infections, Decreased circulating antibody level, Decreased proportion of CD4-positive ...	OMIM:301045
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec...	OMIM:308220
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Fine hair, White hair, Lymphopenia, Agammaglobulinemia, Anemia, Recurrent respiratory infections	ORPHA:935
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia, Recurrent infections	OMIM:617827
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Re...	OMIM:307200
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis	ORPHA:729
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo...	ORPHA:508533
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Immunodeficiency 23	Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf...	OMIM:615816
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni...	ORPHA:79477
Icf Syndrome	Abnormality of neutrophils, Lymphopenia, Anemia, Recurrent respiratory infections, Decreased circ...	ORPHA:2268
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig...	OMIM:618394
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo...	ORPHA:324636
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Neuroleptic Malignant Syndrome	Sepsis, Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated ci...	ORPHA:94093
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia, Persistent human papillomavirus infection, Cryptococcal meningitis	OMIM:618309
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ...	ORPHA:1830
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Recurrent infections, Neutrop...	OMIM:620443
Schimke Immunoosseous Dysplasia	Coarse hair, Elevated circulating thyroid-stimulating hormone concentration, Hypermelanotic macul...	OMIM:242900
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent pneumonia, Alopecia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurrent sinopu...	OMIM:616576
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemi...	OMIM:616084
Interstitial Lung And Liver Disease	Intraalveolar phospholipid accumulation, Failure to thrive, Hyperammonemia, Hypothyroidism, Throm...	OMIM:615486
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sepsis, Acute leukemia, Microcytic anemia, Lymphopenia, Hemolytic...	ORPHA:906
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Beta-Thalassemia	Cholelithiasis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadi...	ORPHA:848
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Recurrent respiratory infections, Lymphopenia, Autoimmune hemolytic anemia, Abnorma...	ORPHA:760
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, Ocular a...	OMIM:214500
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Recurrent lower respiratory tract infections, T lymphocytopenia, Abnormal natural killer cell mor...	OMIM:615966
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Type I diabetes mellitus, Failure to thrive, Increased circulating IgE level, Decreased...	OMIM:304790
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenome...	OMIM:618935
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Common Variable Immunodeficiency	Failure to thrive in infancy, Lymphopenia, Decreased circulating antibody level, Recurrent bronch...	ORPHA:1572
Ectodermal Dysplasia And Immunodeficiency 1	Sparse hair, Molluscum contagiosum, Reduced natural killer cell activity, Abnormal circulating Ig...	OMIM:300291
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti...	OMIM:620501
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia	OMIM:207731
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Sepsis, Recurrent tonsillitis,...	ORPHA:2968
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Decreased pr...	ORPHA:543
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Hirsutism, Eosinophilia, Impai...	OMIM:617237
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Nijmegen Breakage Syndrome	Recurrent pneumonia, Progressive vitiligo, Retinal pigment epithelial mottling, Recurrent urinary...	OMIM:251260
Ebola Hemorrhagic Fever	Sepsis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia	ORPHA:319218
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Peroxisome Biogenesis Disorder 2A (Zellweger)	Pigmentary retinopathy, Failure to thrive, Cryptorchidism, Hypoplasia of the thymus, Elevated cir...	OMIM:214110
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas...	OMIM:620005
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Chédiak-Higashi Syndrome	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Recurrent streptococcal infectio...	ORPHA:167
Kawasaki Disease	Hypoalbuminemia, Abnormality of nail color, Cervical lymphadenopathy, Thrombocytosis, Leukocytosi...	ORPHA:2331
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Failure to thrive, Obesity, Childhood-onset truncal obesity, Red hair	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Failure to thrive, Obesity, Childhood-onset truncal obesity, Red hair	ORPHA:71526
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Failure to thrive, Impaired T cell functio...	OMIM:614576
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Generalized hypopigmentation of hair, Failure to thrive, Premature g...	ORPHA:3322
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocytopenia	OMIM:618624
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Immunodeficiency 31C	Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Decreased lymphocyte prolife...	OMIM:614162
Mirage Syndrome	Sepsis, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Decreased testicular size, A...	OMIM:617053
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:277580
Idiopathic Hypereosinophilic Syndrome	Failure to thrive, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Sp...	ORPHA:3260
Hermansky-Pudlak Syndrome 3	Hypopigmentation of the skin, Abnormal number of dense granules, Impaired platelet aggregation, A...	OMIM:614072
Cyclic Neutropenia	Recurrent tonsillitis, Sepsis, Opportunistic infection, Cervical lymphadenopathy, Lymphopenia, Cy...	ORPHA:2686
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c...	OMIM:105650
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid gland, Abnormal lymphoc...	ORPHA:99867
Progeria-Short Stature-Pigmented Nevi Syndrome	Decreased serum estradiol, Alopecia, Recurrent viral infections, Small for gestational age, Insul...	ORPHA:2959
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Increas...	OMIM:617099
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Impaired T cell function, Recurrent candida infections, Hypogonadism, Decrease...	OMIM:201100
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Obesity	ORPHA:177910
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, B lymphocytopenia	OMIM:619851
Trichothiodystrophy 6, Nonphotosensitive	Tiger tail banding, Slow-growing hair, Brittle hair, Increased HbA2 hemoglobin, Decreased mean co...	OMIM:616943
Bloom Syndrome	Severe toxoplasmosis, Abscess, Sparse eyelashes, Abnormal proportion of CD8-positive T cells, Acu...	ORPHA:125
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Pancreatic steatosis, Aplastic anemia, Increased mean corpuscular vo...	OMIM:617052
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Alopecia, Aplastic anemia, Increased mean corpuscular volume, Premat...	OMIM:127550
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Lymphopenia, Leukopeni...	ORPHA:508542
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased pro...	OMIM:614878
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Alopecia of scalp, Autoimmune hemolytic anemia, Nai...	ORPHA:436252
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ...	ORPHA:33445
Cogan Syndrome	Anemia, Leukocytosis, Thrombocytosis	ORPHA:1467
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi...	ORPHA:897
Cartilage-Hair Hypoplasia	Sparse eyebrow, Fair hair, Fine hair, Lymphopenia, Susceptibility to chickenpox, Macrocytic anemi...	OMIM:250250
Generalized Pustular Psoriasis	Hypoalbuminemia, Sepsis, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Elevated...	ORPHA:247353
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Type I diabetes mellitus, Premature graying of hair, Lymphopenia, Cryptorchidism, Nail dystrophy,...	OMIM:620365
Alg12-Cdg	Hypoalbuminemia, Recurrent pneumonia, Sepsis, Failure to thrive, Small nail, Abnormal circulating...	ORPHA:79324
Whim Syndrome	Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Lymphadenitis, Parotit...	ORPHA:51636
Hereditary Methemoglobinemia	Methemoglobinemia, Abnormality of the nail, Small for gestational age	ORPHA:621
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Abnormal leukocyte...	ORPHA:169105
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Recurrent infections, Decreased circulating antibody level, Eosinophilia	OMIM:617425
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:300946
Digeorge Syndrome	Recurrent pneumonia, Cholelithiasis, Parathyroid hypoplasia, Impaired T cell function, Recurrent ...	OMIM:188400
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosp...	ORPHA:231222
Acquired Hypertrichosis Lanuginosa	Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of hair	ORPHA:2221
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Neutropenia, Thrombocytopenia, Anemia...	OMIM:620481
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Increased circulating IgE level, Cachexia, Neutropenia, Meningitis, Abnormal blood ion concentrat...	ORPHA:37042
Avian Influenza	Hypoalbuminemia, Sepsis, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentrat...	ORPHA:454836
Lead Poisoning	Imbalanced hemoglobin synthesis, Increased circulating IgE level, Decreased circulating osteocalc...	ORPHA:330015
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Reni Syndrome	Hypoalbuminemia, Hypogonadism, Lymphopenia, Adrenal insufficiency, Cryptorchidism, Hyperpigmentat...	OMIM:617575
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr...	OMIM:611783
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Immunodeficiency 87 And Autoimmunity	Recurrent viral infections, Sepsis, Small for gestational age, Cervical lymphadenopathy, Lymphope...	OMIM:619573
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn...	ORPHA:3437
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent infections, Recurrent upper respiratory tract infections, Type I diabetes mellitus, Chr...	ORPHA:391487
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Hereditary Orotic Aciduria	Impaired T cell function, Splenomegaly, Abnormal toenail morphology, Anemia, Recurrent respirator...	ORPHA:30
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr...	OMIM:617907
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Premature graying of hair, Pancy...	OMIM:613989
Spondyloenchondrodysplasia With Immune Dysregulation	Hypermelanotic macule, Recurrent otitis media, Lymphopenia, Vitiligo, Recurrent sinusitis, T lymp...	OMIM:607944
Erythrocytosis, Familial, 2	Elevated circulating erythropoietin concentration, Failure to thrive, Increased hematocrit, Incre...	OMIM:263400
Legionnaires Disease	Bone marrow hypocellularity, Sepsis, Lymphopenia, Splenomegaly, Infectious encephalitis, Hyponatr...	ORPHA:549
Cowden Syndrome 1	Thyroid adenoma, Goiter, Lymphopenia, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyperthyro...	OMIM:158350
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Barth Syndrome	Recurrent infections in infancy and early childhood, Elevated monolysocardiolipin/cardiolipin rat...	OMIM:302060
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Failure to thrive, HbH hemoglobin, Microcytic anemia, Cryptorchidism, Aplasia/Hypoplasia of the e...	ORPHA:98791
Shwachman-Diamond Syndrome 1	Failure to thrive, Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia...	OMIM:260400
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Immunodeficiency 59 And Hypoglycemia	Recurrent upper respiratory tract infections, Sepsis, High anterior hairline, Herpes simplex ence...	OMIM:233600
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Obesity	ORPHA:411515
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration,...	ORPHA:90363
22Q11.2 Deletion Syndrome	Cholelithiasis, Abnormality of thrombocytes, Failure to thrive, Impaired T cell function, Hypopig...	ORPHA:567
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia, Synophrys	ORPHA:391307
Abcd Syndrome	Polycythemia, Large for gestational age, White eyebrow, White eyelashes, Albinism	OMIM:600501
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Acute Radiation Syndrome	Hypopigmentation of the skin, Lymphopenia, Hyperpigmentation of the skin, Thrombocytopenia, Granu...	ORPHA:454831
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent upper respiratory tract infections, Recurrent pneumonia, Persistence of hemoglobin F, O...	OMIM:619769
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Low anterior h...	OMIM:618223
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Eec Syndrome	Sparse eyebrow, Coarse hair, Fine hair, Decreased response to growth hormone stimulation test, Th...	ORPHA:1896
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus	OMIM:617022
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Lymphopenia, Cryptorchidism, Hypothyroidism, Truncal ob...	OMIM:616541
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Pediatric Systemic Lupus Erythematosus	Alopecia, Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocyt...	ORPHA:93552
Treacher-Collins Syndrome	Failure to thrive, Abnormal hair morphology, Cryptorchidism, Low anterior hairline, Absent eyelas...	ORPHA:861
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Cholelithiasis, Coarse hair, Pancreatic hypoplasia, Failure to thrive, ...	ORPHA:83617
Livedoid Vasculopathy	Hyperpigmented streaks, Graves disease, Polycythemia, Abnormal circulating lipid concentration, P...	ORPHA:542643
Autoinflammatory Disease, Systemic, With Vasculitis	Increased circulating interleukin 6 concentration, Failure to thrive, Parotitis, Decreased circul...	OMIM:620376
Hennekam Syndrome	Lymphopenia, Hypocalcemia, Splenomegaly, Lymphangioma, Sparse axillary hair, Lymphadenopathy, Pul...	ORPHA:2136
Immunodeficiency 58	Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic mucocutaneous candidia...	OMIM:618131
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Hypoplasia of the thymus, Recurrent pneumonia, Adrenal hypoplasia	OMIM:613177
Primary Sjögren Syndrome	Normocytic anemia, Thyroiditis, Parotitis, Lymphopenia, Leukopenia, Vitiligo, Decreased proportio...	ORPHA:289390
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Fusariosis	Unusual CNS infection, Invasive fungal infection, Brain abscess, Granuloma, Abnormality of the sp...	ORPHA:228119
Doors Syndrome	Toenail dysplasia, Abnormal fingernail morphology, Congenital hypothyroidism, Adrenal hyperplasia...	ORPHA:79500
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Obesity, Blue irides	OMIM:614613
Wiedemann-Rautenstrauch Syndrome	Sparse eyebrow, Alopecia, Failure to thrive, Small nail, Alopecia of scalp, Cryptorchidism, Spars...	OMIM:264090
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Fraser Syndrome 2	Hypoplasia of the thymus, Low anterior hairline	OMIM:617666
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Marburg Hemorrhagic Fever	Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra...	ORPHA:99826
Lujo Hemorrhagic Fever	Severe viral infection, Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Elevated circula...	ORPHA:319213
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Sparse eyebrow, Recurrent otitis media, Lymphopenia, Pancytopenia, Leukopenia, Obesity, Thrombocy...	OMIM:620654
Isolated Anencephaly	Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes	ORPHA:563609
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Hypermanganesemia With Dystonia 1	Unconjugated hyperbilirubinemia, Hypermanganesemia, Polycythemia, Increased total iron binding ca...	OMIM:613280
Monosomy 22	Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia, Sparse hair, Synophrys	ORPHA:96123
Noonan Syndrome 14	Sparse eyebrow, Lymphopenia, Cryptorchidism, Low posterior hairline, Curly hair, Sparse hair	OMIM:619745
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Failure to thrive	ORPHA:70472
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot, Splenomegaly	OMIM:618541
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased...	OMIM:181000
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Elevated circulating luteinizing hormone level, Decreased circulating dehydroe...	OMIM:250790
Proteus-Like Syndrome	Irregular hyperpigmentation, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomega...	ORPHA:2969
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Obesity	OMIM:609734
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613266
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Abnormal hemoglobin, Cryptorchidism, Infectious encephalitis,...	ORPHA:847
Squalene Synthase Deficiency	Bilateral cryptorchidism, Failure to thrive in infancy, Hypocholesterolemia, Abnormality of hair ...	OMIM:618156
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Khan-Khan-Katsanis Syndrome	Highly arched eyebrow, Pigmentary retinopathy, Trichiasis, Failure to thrive, Lymphopenia, Neutro...	OMIM:618460
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Abnormality of thrombocytes, Ocular albinism...	ORPHA:79430
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Increased ci...	ORPHA:96253
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ...	OMIM:203300
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a...	ORPHA:3214
Degcags Syndrome	Premature graying of hair, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Cryptorchidism, ...	OMIM:619488
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches	ORPHA:53271
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Sparse hair, Sparse eyebrow, Absent nipple, Small nail, Congenital hypothyroidism, Nail dystrophy...	OMIM:620186
Reynolds Syndrome	Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis	OMIM:613471
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Obesity	ORPHA:411511
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Ocular albinism, Cryptorchidism, Anemia, Hypopigmentation of hair	ORPHA:2719
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ...	ORPHA:99889
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98795
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, Cryptorchidism, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Microsporidiosis	Sepsis, Brain abscess, Bronchiolitis, Lymphadenitis, Abnormality of the parathyroid gland, Abnorm...	ORPHA:2552
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Premature adrenarche, Precocious puberty, Hypopigmentation of the skin, Ce...	ORPHA:398079
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp...	ORPHA:98754
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia	OMIM:619708
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp...	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp...	ORPHA:177901
Velocardiofacial Syndrome	Impaired T cell function, Cryptorchidism, Hypocalcemia, Hypoparathyroidism, Recurrent infections	OMIM:192430
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Cystinosis, Nephropathic	Pigmentary retinopathy, Decreased circulating carnitine concentration, Hypopigmentation of the sk...	OMIM:219800
Truncus Arteriosus	Hypoplasia of the thymus, Adrenocortical abnormality	ORPHA:3384
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Obesity	ORPHA:98794
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Precocious puberty, Hypopigmentation of the skin, Central hypothyroidism, ...	ORPHA:398069
Prader-Willi Syndrome	Small pituitary gland, Premature adrenarche, Precocious puberty, Hypopigmentation of the skin, De...	ORPHA:739
Alkaptonuria	Irregular hyperpigmentation, Black pigment gallstones, Methemoglobinemia, Hypothyroidism, Abnorma...	ORPHA:56
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Premature graying of hair, Hypogonadism, Abnormal eyebrow morphology,...	ORPHA:163746
Proteus Syndrome	Irregular hyperpigmentation, Thymus hyperplasia, Central heterochromia, Diabetes insipidus, Neopl...	ORPHA:744
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Abnormality of T cell physiology, Hypocalcemia, Hypoparathyroidism, Hypoc...	ORPHA:2237
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Hypopigmentation of the skin, Decreased response to growth hormone stimula...	ORPHA:177907
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Progeroid Short Stature With Pigmented Nevi	Recurrent viral infections, Impaired T cell function, Delayed puberty, Diabetes mellitus, Small f...	OMIM:176690
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair	ORPHA:1974
Charge Syndrome	Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st...	OMIM:214800

Histopathology

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

There is no histopathology data for Snrnp40

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 Snrnp40.

No publications found that use IMPC mice or data for Snrnp40.

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MGI Allele	Allele Type	Produced
Snrnp40^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Snrnp40^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Snrnp40^em1(IMPC)Bay	Exon Deletion	Mice

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: Snrnp40 MGI:1913835

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

Eye Morphology

Eye Morphology

Human diseases caused by Snrnp40 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data