Gene: Plcg2 MGI:97616

Gene Summary

Name:

phospholipase C, gamma 2

Synonyms:

PLCgamma2, Plcg-2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased IgG1 level	Plcg2^Ali14	HET	Early adult	3.25×10^-15
decreased hematocrit	Plcg2^Ali14	HET	Early adult	1.04×10^-05
decreased hemoglobin content	Plcg2^Ali14	HET	Early adult	1.40×10^-06
decreased bone mineral density	Plcg2^Ali14	HET	Early adult	1.06×10^-09
hyperactivity	Plcg2^Ali14	HET	Early adult	8.63×10^-05
decreased circulating free fatty acids level	Plcg2^Ali14	HET	Early adult	7.50×10^-07
decreased circulating cholesterol level	Plcg2^Ali14	HET	Early adult	2.82×10^-11
increased T cell number	Plcg2^Ali14	HET	Early adult	1.35×10^-08
thrombocytosis	Plcg2^Ali14	HET	Early adult	3.12×10^-06
increased IgG2b level	Plcg2^Ali14	HET	Early adult	2.48×10^-06
decreased IgG3 level	Plcg2^Ali14	HET	Early adult	3.13×10^-05
abnormal glucose homeostasis	Plcg2^Ali14	HET	Early adult	5.94×10^-05
decreased erythrocyte cell number	Plcg2^Ali14	HET	Early adult	4.30×10^-05
decreased circulating triglyceride level	Plcg2^Ali14	HET	Early adult	5.97×10^-05
increased IgM level	Plcg2^Ali14	HET	Early adult	8.87×10^-06
decreased mature B cell number	Plcg2^Ali14	HET	Early adult	7.70×10^-08

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Plcg2 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 Plcg2 (2 diseases)
Human diseases predicted to be associated with Plcg2 (1275 diseases)

The table below shows human diseases associated to Plcg2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Autoinflammation, Antibody Deficiency, And Immune Dysregulation		Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Familial Cold Autoinflammatory Syndrome 3		Allergic rhinitis, Recurrent otitis media, Pruritus, Hashimoto thyroiditis	OMIM:614468

The table below shows human diseases predicted to be associated to Plcg2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Osteoarthritis Susceptibility 3	Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ...	OMIM:607850
Acne Inversa, Familial, 3	Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation	OMIM:613737
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Podocyte foot ...	OMIM:617006
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia	OMIM:608898
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy	OMIM:118600
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Abnormal T cell count, Abnormal B cell count, Chronic decreased ...	OMIM:613495
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Increased circulating IgA level, Glomerulonephritis	OMIM:314000
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Mesangial Immune complex d...	OMIM:613496
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	OMIM:618987
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Osteoarthritis Susceptibility 2	Heberden's node, Osteoarthritis	OMIM:140600
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Chondrocalcinosis 1	Chondrocalcinosis, Osteoarthritis	OMIM:600668
Kienbock Disease	Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis	ORPHA:97332
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega...	OMIM:619924
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Histiocytosis, Skin rash	ORPHA:157997
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Angel-Shaped Phalangoepiphyseal Dysplasia	Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib...	OMIM:105835
Immunodeficiency 20	Reduced natural killer cell count, Severe varicella zoster infection, BCGitis, Recurrent otitis m...	OMIM:615707
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c...	OMIM:614493
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant...	OMIM:617609
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Secretory Component Deficiency	Chronic intestinal candidiasis, Secretory IgA deficiency	OMIM:269650
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Immunodeficiency 27A	Hypoalbuminemia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Salmonella osteomyelit...	OMIM:209950
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M...	OMIM:619281
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
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia	OMIM:616941
Brachydactylous Dwarfism, Mseleni Type	Hip osteoarthritis, Osteopenia, Abnormality of the ankle, Osteoarthritis of the elbow, Limitation...	ORPHA:2619
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell activity, Decre...	OMIM:300400
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia	OMIM:300988
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Acne Inversa, Familial, 1	Acne inversa	OMIM:142690
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno...	OMIM:607271
Chilblain Lupus 2	Chilblains	OMIM:614415
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level	OMIM:300310
Histiocytosis, Familial Lipochrome	Histiocytosis, Polyarticular arthritis, Increased circulating antibody level	OMIM:235900
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt...	OMIM:612692
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti...	OMIM:618982
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Lymp...	OMIM:613101
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Ascites, Chylous	Chylous ascites	OMIM:208300
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Glanzmann Thrombasthenia 1	Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet...	OMIM:273800
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Immunodeficiency 25	Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif...	OMIM:610163
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl...	ORPHA:567544
Immunodeficiency 15A	Decreased proportion of memory B cells, Acne inversa, Chronic mucocutaneous candidiasis, Cutaneou...	OMIM:618204
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:601859
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr...	OMIM:619693
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide...	ORPHA:70593
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T c...	OMIM:613501
Nephrotic Syndrome, Type 24	Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic...	OMIM:619263
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Glanzmann Thrombasthenia 2	Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet...	OMIM:619267
Osteoarthritis With Mild Chondrodysplasia	Knee osteoarthritis, Hip osteoarthritis, Joint stiffness, Heberden's node	OMIM:604864
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Osteoarthriti...	ORPHA:1416
Immunodeficiency 53	Recurrent pneumonia, Recurrent otitis media, Skin rash, Impaired lymphocyte transformation with p...	OMIM:617585
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Cernunnos-Xlf Deficiency	Lymphopenia, Decreased circulating antibody level, Autoimmunity, Thrombocytopenia, B lymphocytope...	ORPHA:169079
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Prolonged bleeding time, Impaired ADP-induced platel...	OMIM:155100
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal ...	ORPHA:98813
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph...	OMIM:613779
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Pruritus, Erythroderma	ORPHA:280785
Bleeding Disorder, Platelet-Type, 11	Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu...	OMIM:614201
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo...	OMIM:614009
C1Q Deficiency 1	Membranoproliferative glomerulonephritis	OMIM:613652
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl...	OMIM:615214
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints	ORPHA:50809
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density, Increased circulat...	ORPHA:37748
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati...	ORPHA:169160
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Limited hip movement	ORPHA:86820
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Nonimmu...	OMIM:265300
Cranio-Osteoarthropathy	Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Arthritis, Abnormality of...	ORPHA:1525
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni...	OMIM:601457
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat...	OMIM:617514
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections	ORPHA:345
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Actinic Prurigo	Pyoderma, Cheilitis, Glomerulonephritis	OMIM:174770
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis	ORPHA:2206
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia	OMIM:610539
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Limitation of joint mobility, Joint stiffness, Genu valgum, Abno...	ORPHA:93308
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form...	ORPHA:499
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti...	ORPHA:563991
Congenital Atransferrinemia	Anemia, Arthritis	ORPHA:1195
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Bleeding Disorder, Platelet-Type, 21	Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:617443
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy...	OMIM:617241
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Lack of T cell function, Increased cir...	ORPHA:277
Athrombia, Essential	Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation	OMIM:209050
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega...	OMIM:603909
Beukes Hip Dysplasia	Shallow acetabular fossae, Osteoarthritis	OMIM:142669
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont...	OMIM:604416
Epiphyseal Dysplasia, Multiple, 3	Delayed epiphyseal ossification, Abnormal hip joint morphology, Limited elbow extension, Limited ...	OMIM:600969
Dracunculiasis	Limitation of joint mobility, Skin rash, Arthritis, Flexion contracture, Pruritus, Recurrent cuta...	ORPHA:231
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Phaeohyphomycosis, Abn...	OMIM:212050
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Abnormalit...	ORPHA:2114
Hermansky-Pudlak Syndrome 9	Leukopenia, Recurrent skin infections, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effusion, Splenomegaly, Pulmo...	ORPHA:2414
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ...	OMIM:615401
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Neutropenia, Chronic Familial	Periodontitis, Neutropenia, Increased circulating antibody level	OMIM:162700
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Familial Reactive Perforating Collagenosis	Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting erythematous dermatitis, ...	ORPHA:79147
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph...	ORPHA:169154
Platelet Disorder, Undefined	Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Systemic Lupus Erythematosus	Nephritis, Leukopenia, Malar rash, Lupus nephritis, Arthritis, Thrombocytopenia, Hemolytic anemia...	OMIM:152700
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot...	ORPHA:329918
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Fetal Parvovirus Syndrome	Ascites, Increased nuchal translucency, Hydrops fetalis, Hypertrophic cardiomyopathy	ORPHA:295
Systemic Lupus Erythematosus 16	Lupus nephritis	OMIM:614420
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis	ORPHA:93283
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Osteoporosis, ...	ORPHA:100024
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Pruritus, Erythroderma	OMIM:270300
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ...	OMIM:618394
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Bone marrow hypocellularity, Mandibular osteomyelitis, Fractures of the long ...	OMIM:166600
Spondylosis, Cervical	Osteoarthritis	OMIM:184300
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
Ige Responsiveness, Atopic	Allergic rhinitis, Increased circulating IgE level, Eczematoid dermatitis	OMIM:147050
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl...	ORPHA:209004
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Mueller-Weiss Syndrome	Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Limitation of movement at...	ORPHA:566943
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis	OMIM:619248
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis	ORPHA:2582
Chronic Actinic Dermatitis	Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Pruritus	ORPHA:330064
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility	OMIM:130020
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Osteochondritis dissecans, Premature osteoarthritis	OMIM:165800
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Ascites, Tricuspid regurgitation, Hepatomegaly, Pulmonary insufficien...	OMIM:619433
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge...	OMIM:130060
Bleeding Disorder, Platelet-Type, 18	Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ...	OMIM:615888
Papa Syndrome	Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Pustule, Myositis...	ORPHA:69126
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA...	OMIM:618048
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Bullous Impetigo	Pustule, Septic arthritis, Recurrent bacterial skin infections	ORPHA:36237
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Lymphopenia, Decrease...	OMIM:616100
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Progressive Osseous Heteroplasia	Ectopic ossification in muscle tissue, Limitation of joint mobility, Osteoarthritis	ORPHA:2762
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Activated Pi3K-Delta Syndrome	Decreased circulating antibody level, Splenomegaly, Arthritis, B lymphocytopenia, Increased circu...	ORPHA:397596
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification	ORPHA:3319
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Congenital Pseudoarthrosis Of The Clavicle	Osteoarthritis	ORPHA:66630
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Multicentric Reticulohistiocytosis	Histiocytosis, Arthritis	ORPHA:139436
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Immunodeficiency 96	Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp...	OMIM:619774
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Incr...	OMIM:615767
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
Paget Disease Of Bone 6	Recurrent fractures, Osteoarthritis	OMIM:616833
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes...	OMIM:208250
Intellectual Developmental Disorder, Fra12A Type	Erythroderma	OMIM:136630
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Joint stiffness, Increased circulating IgA level, Elevated circulating C...	OMIM:615934
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac...	OMIM:300835
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve...	OMIM:308230
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c...	OMIM:304790
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Osteoarthritis	OMIM:614135
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Immunodeficiency 68	Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ...	OMIM:612260
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hypermobility	ORPHA:63442
Hermansky-Pudlak Syndrome 3	Abnormal number of dense granules, Impaired platelet aggregation	OMIM:614072
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the ankle, Genu valgum, Abnormality of the epiphyses of the elbow, Osteoarthritis,...	ORPHA:166002
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Von Willebrand Disease, Type 3	Joint hemorrhage, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Lymphoproliferative Syndrome 3	Decreased circulating antibody level, Reduced natural killer cell count, Hepatosplenomegaly, Part...	OMIM:618261
Pseudoachondroplasia	Delayed epiphyseal ossification, Irregular acetabular roof, Joint stiffness, Genu valgum, Increas...	ORPHA:750
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Complement Component 4A Deficiency	Glomerulonephritis	OMIM:614380
Hydrops Fetalis	Generalized edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetalis, Abnormality ...	ORPHA:1041
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Abnormally low T cell receptor excision circle level, T lymphocytop...	OMIM:618806
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Pityriasis Rubra Pilaris	Pustule, Pruritus, Erythroderma, Eczematoid dermatitis	ORPHA:2897
Autoinflammatory-Pancytopenia Syndrome	Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Chilblains, Intestinal inflammatio...	OMIM:619858
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fetalis	OMIM:619462
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level, Recurrent o...	OMIM:616910
Ovarian Hyperstimulation Syndrome	Ascites	OMIM:608115
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Dysplasia Epiphysealis Hemimelica	Joint stiffness, Genu valgum, Recurrent fractures, Osteoarthritis, Tarsal synostosis, Genu varum	ORPHA:1822
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Quebec Platelet Disorder	Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation	OMIM:613736
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Progressive joint destruction, Joint stiffness, Chondritis, Osteochondros...	ORPHA:564003
Epiphyseal Dysplasia, Multiple, 1	Delayed epiphyseal ossification, Hip osteoarthritis, Limited hip movement, Joint stiffness, Genu ...	OMIM:132400
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Arthritis	OMIM:177900
Albers-Schönberg Osteopetrosis	Mandibular osteomyelitis, Joint dislocation, Osteomyelitis, Genu valgum, Abnormal leukocyte morph...	ORPHA:53
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Cutaneous abscess	OMIM:619986
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Decreased circulating antibody l...	OMIM:226300
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Decrease...	OMIM:619802
Dysspondyloenchondromatosis	Joint dislocation, Genu valgum, Generalized joint hypermobility, Osteoarthritis, Enlarged joints	ORPHA:85198
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Increased circula...	ORPHA:411593
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Lipodystrophy, Partial, Acquired, Susceptibility To	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:608709
Verrucous Hemangioma	Inflammatory abnormality of the skin	ORPHA:464318
Melioidosis	Pneumonia, Unusual skin infection, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatiti...	ORPHA:31202
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac...	OMIM:601399
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Rickets, Decreased circulating IgA level, Hypocalcemia, Macrocytic anem...	OMIM:212750
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ...	OMIM:618986
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Boutonneuse Fever	Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia	ORPHA:83313
Primary Myelofibrosis	Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg...	ORPHA:824
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma...	OMIM:106300
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Epiphyseal Dysplasia, Multiple, 5	Premature osteoarthritis, Genu valgum, Delayed tarsal ossification, Delayed ossification of carpa...	OMIM:607078
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop...	ORPHA:217390
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Splenomega...	OMIM:616050
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Erythroderma, Blepharitis	OMIM:614328
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Membranous nephropathy...	OMIM:618999
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger	ORPHA:1937
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia	OMIM:618495
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Joint stiffness, Osteoarthritis	ORPHA:1345
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis	OMIM:260910
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o...	ORPHA:85408
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Elevated haptoglobin level, Abnormal circulatin...	OMIM:620632
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Coombs-positive hemolytic anemia, Elevated circulat...	OMIM:614034
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit...	OMIM:608971
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot...	OMIM:620210
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Premature osteoarthritis	OMIM:184840
Immunodeficiency 10	Decreased circulating IgG level, Hypoglycemia, Decreased circulating IgA level, Autoimmune hemoly...	OMIM:612783
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Ascites, Hepatomegaly, Gastrointestinal hemorrhage	ORPHA:2198
Hypochondroplasia	Abnormality of the elbow, Genu varum, Osteoarthritis, Joint hypermobility	ORPHA:429
Alpha-Heavy Chain Disease	Ascites, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:100025
Bernard-Soulier Syndrome	Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo...	OMIM:231200
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ...	OMIM:256500
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Antineutrophil antibody positivity,...	OMIM:301078
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating ferritin concentration, Increased circulat...	OMIM:620603
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Epiphyseal Dysplasia, Multiple, 2	Knee osteoarthritis, Osteochondritis dissecans, Genu varum, Flattened knee epiphyses	OMIM:600204
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Ascites, Portal hypertension, Splenomegaly, Petechiae, Ecchymosis, Hepatomegaly	OMIM:619463
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomonocytic leukemia, Malar ...	ORPHA:90280
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Crescentic glomerulonephritis, Mesangial hypercellularity, Arthritis	OMIM:616414
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Osteoarthritis	ORPHA:166100
Nephrosialidosis	Ascites, Pericardial effusion	OMIM:256150
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip osteoarthritis, Limited hip movement, Hip contracture, Abnormality of the knee, Hip subluxati...	ORPHA:99642
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Agammaglobulinemia, Hypoplasia of the thy...	OMIM:243150
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Arthritis, Erythema nodosum	OMIM:611762
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,...	ORPHA:85435
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Poems Syndrome	Polycythemia, Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Splenomega...	ORPHA:2905
Progressive Pseudorheumatoid Dysplasia	Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Enlarged interphalangeal...	OMIM:208230
Bleeding Disorder, Platelet-Type, 8	Impaired ADP-induced platelet aggregation	OMIM:609821
Immunodeficiency 13	Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop...	OMIM:615518
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	ORPHA:276
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut...	OMIM:617099
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:616730
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,...	ORPHA:93351
Candidiasis, Familial, 8	Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis	OMIM:615527
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Abnormalit...	ORPHA:69735
Hemochromatosis, Type 4	Anemia, Osteoarthritis	OMIM:606069
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased circulating interf...	ORPHA:540
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome...	OMIM:618594
Immunodeficiency 23	Increased circulating IgE level, Lymphopenia, Abscess, Joint hypermobility, Eosinophilia, Neutrop...	OMIM:615816
Focal Segmental Glomerulosclerosis 1	Ascites, Pleural effusion, Edema, Hypertension	OMIM:603278
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev...	OMIM:242860
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, B lymphocytopenia, Colitis, T lymphocytopenia	OMIM:619164
Isolated Agammaglobulinemia	Pneumonia, Abnormal lymphocyte morphology, Otitis media, Skin rash, Anemia, Arthritis, Sinusitis,...	ORPHA:229717
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Bronchiectasis, Osteoarthritis, Joint hypermobility	OMIM:620080
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Arthritis	OMIM:617772
Neuropathy, Hereditary Sensory And Autonomic, Type V	Painless fractures due to injury, Osteomyelitis, Arthropathy, Osteoarthritis, Septic arthritis, R...	OMIM:608654
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage...	ORPHA:567548
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Chylous Ascites	Ascites, Lymphedema	ORPHA:1160
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:615573
Splenoportal Vascular Anomalies	Ascites, Splenomegaly	OMIM:271500
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Ne...	ORPHA:33110
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Decreased circulating IgG level, Osteopenia, Hypocholesterolemia, Decreased circ...	OMIM:212065
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Agamm...	OMIM:601495
Spondyloepimetaphyseal Dysplasia, Irapa Type	Genu valgum, Limited elbow extension, Osteoarthritis, Capitate-hamate fusion	OMIM:271650
Erythema Nodosum, Familial	Erythema nodosum	OMIM:132990
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Anemia, Bronchiect...	OMIM:620321
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport...	OMIM:300853
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut...	OMIM:618282
Zika Virus Disease	Increased circulating IgM level, Arthritis, Thrombocytopenia	ORPHA:448237
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Type I diabetes mellitus, Lymphopenia, Hepatosplenomegaly, Pancytope...	OMIM:615688
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos...	OMIM:615758
Hypobetalipoproteinemia, Familial, 1	Hypocholesterolemia, Acanthocytosis, Hypertriglyceridemia, Decreased LDL cholesterol concentratio...	OMIM:615558
Subacute Inflammatory Demyelinating Polyneuropathy	Limited elbow flexion, Limited hip movement, Limitation of movement at ankles, Leukocytosis, Incr...	ORPHA:206594
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increase...	ORPHA:507
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Immunodeficiency 46	Sepsis, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Anemia, Mening...	OMIM:616740
Immunodeficiency 17	Abnormal B cell morphology, Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, ...	OMIM:615607
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Pruritus	ORPHA:3162
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in r...	OMIM:600802
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,...	OMIM:618131
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Recurrent aphthou...	ORPHA:275
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Joint contracture of the hand, Hip dislocation, Keratitis, Eczematoid dermatitis, Recurrent otiti...	OMIM:618523
Stickler Syndrome Type 1	Osteoarthritis, Joint hypermobility	ORPHA:90653
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Beta-Ketothiolase Deficiency	Hypoglycemia, Anorexia, Hyperglycemia, Leukocytosis, Hyperammonemia, Oral aversion, Hyperuricemia...	ORPHA:134
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level, Inflammatory abnormality of the skin	ORPHA:90159
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Monocytosis, Memb...	OMIM:619644
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl...	OMIM:300291
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E...	OMIM:620532
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia	OMIM:300299
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytos...	OMIM:616871
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Osteo...	ORPHA:79329
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Oligohydramnios, Polyhydramnios, Splenomegaly	ORPHA:1046
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinoph...	OMIM:226990
Autoerythrocyte Sensitization Syndrome	Self-injurious behavior, Impaired platelet adhesion, Abnormal erythrocyte morphology, Obsessive-c...	ORPHA:324636
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Multiple Epiphyseal Dysplasia Type 5	Premature osteoarthritis, Limited hip movement, Genu valgum, Joint stiffness, Intervertebral disk...	ORPHA:93311
Dengue Fever	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hypotension, Bruising susceptibility, ...	ORPHA:99828
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi...	OMIM:102700
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Joint stiffness, Genu valgum, Abnormal acetabulum morphology, Abnor...	ORPHA:166011
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L...	ORPHA:139402
Omenn Syndrome	Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, Thrombocyt...	OMIM:603554
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Mucopolysaccharidosis, Type Ix	Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Wrist hypermobility, Periarti...	OMIM:601492
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Erythroderma	OMIM:620150
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ...	OMIM:610984
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Myositis, Abnormal lympho...	ORPHA:99867
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the

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