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

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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 (1253 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 IgA level, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:614878
Familial Cold Autoinflammatory Syndrome 3		Allergic rhinitis, Hashimoto thyroiditis, Pruritus, Recurrent otitis media	OMIM:614468

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

Disease	Matching phenotypes	Source
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I...	OMIM:247630
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level, Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, ...	OMIM:247800
Immunoglobulin M, Level Of	Decreased circulating total IgM	OMIM:308250
Nephrotic Syndrome, Type 10	Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-...	OMIM:615861
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Nephrotic Syndrome, Type 23	Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero...	OMIM:619201
Acne Inversa, Familial, 3	Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation	OMIM:613737
Osteoarthritis Susceptibility 3	Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthritis, Osteoarthrit...	OMIM:607850
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits	ORPHA:69063
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Nephrotic syndrome, Decreased specific pneumococcal antibody level, Podocyte foot proces...	OMIM:617006
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ...	OMIM:615897
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise...	OMIM:256020
C3 Glomerulopathy 3	Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease	OMIM:614809
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating total IgM, Decreased ...	OMIM:618987
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia	OMIM:608898
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio...	OMIM:619374
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Increased circulating IgA level, Hematuria	OMIM:314000
Chondrocalcinosis 2	Osteoarthritis, Arthropathy, Polyarticular chondrocalcinosis	OMIM:118600
Thrombocytopenia 7	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619130
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Arthritis, Sacroiliac	Pruritus, Sacroiliac arthritis	OMIM:108100
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia	OMIM:233650
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM...	OMIM:153600
Immunodeficiency 51	Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio...	OMIM:613953
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,...	OMIM:613493
Nephrotic Syndrome, Type 7	Nephrotic syndrome, Hemolytic anemia, Thickened glomerular basement membrane, Proteinuria, Acute ...	OMIM:615008
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga...	OMIM:613500
Immunodeficiency 11	Decreased circulating antibody level	OMIM:615206
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level	OMIM:146830
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Immunodeficiency 105	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly...	OMIM:619924
Kienbock Disease	Abnormality of the wrist, Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans	ORPHA:97332
Benign Cephalic Histiocytosis	Histiocytosis, Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Hyperextensibility of the finger joints, Delayed ossification of carpal bones...	OMIM:105835
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R...	OMIM:614493
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen...	OMIM:202700
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:613502
Immunodeficiency 20	Recurrent oral herpes, Severe varicella zoster infection, Recurrent sinusitis, BCGitis, Recurrent...	OMIM:615707
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia, Recurrent otitis media	OMIM:616941
Transcobalamin Deficiency	Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre...	ORPHA:859
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Chondrocalcinosis 1	Chondrocalcinosis, Osteoarthritis	OMIM:600668
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Nephrotic Syndrome, Type 15	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis	OMIM:617609
Secretory Component Deficiency	Secretory IgA deficiency, Chronic intestinal candidiasis	OMIM:269650
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism	OMIM:183350
Brachydactylous Dwarfism, Mseleni Type	Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Abnormality of the ankles, Protrusio ...	ORPHA:2619
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec...	OMIM:619281
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Decrease...	OMIM:613496
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati...	OMIM:616636
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir...	OMIM:618944
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Platelet Signal Processing Defect	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb...	OMIM:173590
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor...	OMIM:615513
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Bleeding Disorder, Platelet-Type, 24	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619271
Acne Inversa, Familial, 1	Acne inversa	OMIM:142690
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Recurrent fungal infections, Chronic oral candidiasis, Decreased...	OMIM:300400
Immunodeficiency 50	Eczema, Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Immunodeficiency 27A	Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T...	OMIM:209950
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Thrombocythemia 1	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187950
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomegaly, Decr...	OMIM:613101
Immunodeficiency 40	Lymphopenia	OMIM:616433
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgE, Decrease...	OMIM:619510
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level, Polyarticular arthritis	OMIM:235900
Cernunnos-Xlf Deficiency	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Autoimmu...	ORPHA:169079
Immunodeficiency 72 With Autoinflammation	Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgE level, Increased circu...	OMIM:618982
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre...	OMIM:618534
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos...	OMIM:619824
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Caspase 8 Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte...	OMIM:607271
Ascites, Chylous	Chylous ascites	OMIM:208300
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Glanzmann Thrombasthenia 1	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:273800
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Neutropenia	OMIM:615214
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Immunodeficiency 25	Increased circulating IgA level, Eosinophilia, Increased circulating IgE level, Increased circula...	OMIM:610163
Immunodeficiency 15A	Acne inversa, Recurrent sinusitis, Decreased proportion of CD8-positive T cells, Decreased propor...	OMIM:618204
Tubulointerstitial Nephritis With Uveitis	Panuveitis, Anterior uveitis, Non-caseating epithelioid cell granulomatosis, Reversible renal fai...	OMIM:607665
Idiopathic Non-Lupus Full-House Nephropathy	Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Serositis, Abnormal glomerula...	ORPHA:567544
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Sinusitis, Otitis media, Decreased specifi...	ORPHA:70593
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia	OMIM:124900
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Absent circulating B cells, Seborrheic dermatitis, Agammaglobulinemia, Thr...	OMIM:619693
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:601859
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci...	OMIM:618969
Osteoarthritis With Mild Chondrodysplasia	Hip osteoarthritis, Joint stiffness, Heberden's node, Knee osteoarthritis	OMIM:604864
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Otitis media, Purulent rhinitis, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia, ...	OMIM:601457
Nephrotic Syndrome, Type 24	Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen...	OMIM:619263
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Glanzmann Thrombasthenia 2	Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,...	OMIM:619267
Immunodeficiency 92	Decreased circulating IgA level, Osteomyelitis, Abnormal B cell proliferation, Lymphocytosis, Leu...	OMIM:619652
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Familial Calcium Pyrophosphate Deposition	Joint swelling, Joint dislocation, Chondrocalcinosis, Osteoarthritis, Arthritis, Limitation of jo...	ORPHA:1416
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ...	OMIM:615559
Peripheral Dysostosis	Joint stiffness, Osteoarthritis	ORPHA:1795
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno...	ORPHA:2585
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ...	ORPHA:169160
Complement Component 3 Deficiency, Autosomal Recessive	Membranoproliferative glomerulonephritis, Nephrotic syndrome, Recurrent pneumonia, Renal insuffic...	OMIM:613779
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc...	ORPHA:75564
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi...	OMIM:155100
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy...	ORPHA:86841
Bleeding Disorder, Platelet-Type, 16	Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane...	OMIM:187800
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla...	OMIM:308240
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia	ORPHA:231393
Chondrocalcinosis Due To Apatite Crystal Deposition	Costal cartilage calcification, Chondrocalcinosis, Arthropathy, Osteoarthritis of the small joint...	OMIM:118610
C1Q Deficiency	Membranoproliferative glomerulonephritis	OMIM:613652
Bullous Diffuse Cutaneous Mastocytosis	Erythroderma, Cutaneous mastocytosis, Pruritus	ORPHA:280785
Talo-Patello-Scaphoid Osteolysis	Enlarged joints, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis	ORPHA:50809
Schnitzler Syndrome	Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Increased circulating IgM ...	ORPHA:37748
Ehlers-Danlos Syndrome, Hypermobility Type	Osteoarthritis, Joint dislocation, Joint laxity, Joint hypermobility	OMIM:130020
Cranio-Osteoarthropathy	Joint stiffness, Joint swelling, Osteoarthritis, Eczema, Arthritis, Abnormality of the knee	ORPHA:1525
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i...	OMIM:301082
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Limited hip movement	ORPHA:86820
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, B lymphocy...	ORPHA:277
Immunodeficiency 69	Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr...	OMIM:618963
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:608106
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections	ORPHA:345
Multiple Epiphyseal Dysplasia Type 1	Joint stiffness, Delayed epiphyseal ossification, Finger joint hypermobility, Osteoarthritis, Kne...	ORPHA:93308
Sickle Cell Anemia	Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o...	ORPHA:232
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Recurrent skin infec...	ORPHA:499
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis	ORPHA:2206
Immunodeficiency 15B	Agammaglobulinemia, Decreased circulating antibody level	OMIM:615592
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:611926
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Splenomegaly, Osteopenia, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism	OMIM:610539
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Osteochondrosis Of The Tarsal Bone	Chondritis, Arthritis, Tarsal sclerosis, Osteochondritis dissecans, Tarsal stippling, Abnormal ta...	ORPHA:563991
Actinic Prurigo	Glomerulonephritis, Cheilitis, Pyoderma	OMIM:174770
Beukes Hip Dysplasia	Osteoarthritis, Shallow acetabular fossae	OMIM:142669
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr...	OMIM:619705
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia	OMIM:616873
Congenital Atransferrinemia	Anemia, Arthritis	ORPHA:1195
Epiphyseal Dysplasia, Multiple, 3	Delayed epiphyseal ossification, Osteoarthritis, Limited elbow extension, Limited knee extension,...	OMIM:600969
Hyperlysinemia, Type I	Anemia, Hyperlysinemia, Hyperactivity	OMIM:238700
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun...	OMIM:265300
Immunodeficiency 8	Hyperactivity, Lymphopenia	OMIM:615401
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i...	OMIM:619433
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	OMIM:609655
Athrombia, Essential	Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time	OMIM:209050
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Sterile abscess, Arthr...	OMIM:604416
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L...	OMIM:615285
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Abnormal lymphocyte morphology	OMIM:609529
Dracunculiasis	Flexion contracture, Skin rash, Arthritis, Pruritus, Limitation of joint mobility, Recurrent cuta...	ORPHA:231
Immunodeficiency 61	Recurrent sinusitis, Agammaglobulinemia, Recurrent otitis media, Arthritis	OMIM:300310
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C...	OMIM:617241
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:603909
Hermansky-Pudlak Syndrome 9	Abnormal platelet aggregation, Leukopenia, Thrombocytopenia, Recurrent skin infections	OMIM:614171
Immunodeficiency 103, Susceptibility To Fungal Infections	Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat...	OMIM:212050
Hip Dysplasia, Beukes Type	Osteoarthritis, Abnormal bone ossification, Abnormality of bone mineral density, Abnormal ossific...	ORPHA:2114
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os...	OMIM:166600
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
+173470 integrin, beta-3	Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ...	OMIM:173470
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Familial Reactive Perforating Collagenosis	Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem...	ORPHA:79147
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
Systemic Lupus Erythematosus	Nephritis, Leukopenia, Arthritis, Hemolytic anemia, Lupus nephritis, Malar rash, Pericarditis, Th...	OMIM:152700
Mueller-Weiss Syndrome	Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Joint subluxation, Cho...	ORPHA:566943
Immunodeficiency 57 With Autoinflammation	Gastritis, Skin rash, B lymphocytopenia, T lymphocytopenia, Inflammation of the large intestine, ...	OMIM:618108
Bleeding Disorder, Platelet-Type, 21	Eczema, Thrombocytopenia, Impaired platelet aggregation, Psoriasiform dermatitis	OMIM:617443
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis	OMIM:619248
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion...	OMIM:619375
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time	OMIM:173420
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ...	OMIM:263300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ...	ORPHA:169154
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:616220
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
C3 Glomerulopathy	Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo...	ORPHA:329918
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis	ORPHA:93283
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent bronchitis, Neutropenia, Agamma...	OMIM:613501
Fetal Parvovirus Syndrome	Hydrops fetalis, Increased nuchal translucency, Ascites, Hypertrophic cardiomyopathy	ORPHA:295
Immunodeficiency 36	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, B ly...	OMIM:616005
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Mu-Heavy Chain Disease	Increased circulating antibody level, Splenomegaly, Abnormal B cell count, Osteoporosis, Osteolys...	ORPHA:100024
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi...	OMIM:618394
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria	OMIM:613913
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p...	ORPHA:209004
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Ige Responsiveness, Atopic	Allergic rhinitis, Eczema, Increased circulating IgE level	OMIM:147050
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Osteoarthritis, Osteochondritis dissecans	OMIM:165800
Spondylosis, Cervical	Osteoarthritis	OMIM:184300
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia, Limitation of joint mobility, Arthritis	ORPHA:2582
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion...	OMIM:619846
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo...	OMIM:300835
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Chronic Actinic Dermatitis	Eczema, Allergic rhinitis, Late onset atopic dermatitis, Pruritus, Erythroderma	ORPHA:330064
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal...	OMIM:601399
Combined Immunodeficiency, X-Linked	Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ...	OMIM:312863
Peeling Skin Syndrome 1	Erythroderma, Eosinophilia, Increased circulating IgE level, Pruritus	OMIM:270300
Proteasome-Associated Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Abnormal ...	OMIM:618048
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, S...	OMIM:616100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly	ORPHA:46532
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in...	ORPHA:69126
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Progressive Osseous Heteroplasia	Ectopic ossification in muscle tissue, Osteoarthritis, Limitation of joint mobility	ORPHA:2762
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res...	ORPHA:331206
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt...	OMIM:301081
Bullous Impetigo	Recurrent bacterial skin infections, Pustule, Septic arthritis	ORPHA:36237
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification	ORPHA:3319
Reticular Dysgenesis	Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy...	OMIM:267500
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro...	OMIM:618178
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation	OMIM:618462
Congenital Pulmonary Lymphangiectasia	Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Hydrops...	ORPHA:2414
Multicentric Reticulohistiocytosis	Histiocytosis, Arthritis	ORPHA:139436
Pseudoachondroplasia	Limited hip extension, Joint stiffness, Delayed epiphyseal ossification, Irregular carpal bones, ...	ORPHA:750
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Constrictive pericarditis, Wrist flexion contracture, Congenital finger flexion contractures, Art...	OMIM:208250
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Intellectual Developmental Disorder, Fra12A Type	Erythroderma	OMIM:136630
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Joint subluxation, Osteopenia, Congenital bilateral hip dislocation, Joint laxity, Increased susc...	OMIM:130060
Sting-Associated Vasculopathy, Infantile-Onset	Joint stiffness, Lymphopenia, Elevated circulating C-reactive protein concentration, Increased ci...	OMIM:615934
Adult Idiopathic Neutropenia	Lymphopenia, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia	ORPHA:2688
Asplenia, Isolated Congenital	Thrombocytosis, Asplenia, Howell-Jolly bodies	OMIM:271400
Congenital Pseudoarthrosis Of The Clavicle	Osteoarthritis	ORPHA:66630
Immunodeficiency 96	Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev...	OMIM:619774
Immunodeficiency, Common Variable, 11	Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Decreased ...	OMIM:615767
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig...	OMIM:605258
Immunodeficiency 66	Defective T cell proliferation, Pustule, Recurrent skin infections	OMIM:618847
Platelet Aggregation, Spontaneous	Abnormal platelet function, Spontaneous platelet aggregation	OMIM:173400
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
Ras-Associated Autoimmune Leukoproliferative Disorder	Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb...	OMIM:614470
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Osteoarthritis	OMIM:614135
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hyperflexibility	ORPHA:63442
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Immunodeficiency 68	Recurrent skin infections, Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal...	OMIM:612260
Paget Disease Of Bone 6	Recurrent fractures, Osteoarthritis	OMIM:616833
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Atopic dermatitis, Pneumonia, T lymphocytop...	OMIM:618806
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria	OMIM:608709
Von Willebrand Disease, Type 3	Joint hemorrhage, Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time	OMIM:277480
Hermansky-Pudlak Syndrome 3	Impaired platelet aggregation, Abnormal number of dense granules	OMIM:614072
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Osteoarthritis, Abnormality of the ankles, Genu varum, Abnormality of the epiphyses of the elbow,...	ORPHA:166002
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 27 concentration, Elevated circulating C-reactive protein concent...	OMIM:619632
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level...	OMIM:308230
Bleeding Disorder, Platelet-Type, 18	Impaired platelet aggregation, Prolonged bleeding time	OMIM:615888
Complement Component 4A Deficiency	Glomerulonephritis	OMIM:614380
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Lymphoproliferative Syndrome 3	Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c...	OMIM:618261
Ovarian Hyperstimulation Syndrome	Ascites	OMIM:608115
Autoinflammatory-Pancytopenia Syndrome	Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membranoproliferative glomerulonep...	OMIM:619858
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation	OMIM:613736
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Cutaneous abscess, Chronic furunculosis	OMIM:619986
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Coombs-positive hemolytic anemia, Eczema, Eosinophilia, Glomerulonephritis, Autoimmune thrombocyt...	OMIM:304790
Focal Segmental Glomerulosclerosis 7	Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Pityriasis Rubra Pilaris	Erythroderma, Eczema, Pustule, Pruritus	ORPHA:2897
Dysplasia Epiphysealis Hemimelica	Recurrent fractures, Joint stiffness, Osteoarthritis, Genu varum, Genu valgum, Tarsal synostosis	ORPHA:1822
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Spondyloarthropathy, Susceptibility To, 1	Oligoarthritis, Inflammation of the large intestine, Anterior uveitis, Hip osteoarthritis, Sacroi...	OMIM:106300
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased cir...	OMIM:606367
Quebec Platelet Disorder	Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic...	OMIM:603902
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Join...	ORPHA:53
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Epiphyseal Dysplasia, Multiple, 1	Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity, Hip osteoarthritis, G...	OMIM:132400
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Progressive joint destruction, Sclerosis of foot bone, Chondritis, Arthritis, Os...	ORPHA:564003
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Atopic dermatitis, Chronic otitis media, B lymphocytopenia, ...	ORPHA:217390
Dysspondyloenchondromatosis	Enlarged joints, Joint dislocation, Generalized joint laxity, Osteoarthritis, Genu valgum	ORPHA:85198
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Insulin Autoimmune Syndrome	Increased circulating antibody level, Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive...	ORPHA:411593
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest...	OMIM:620058
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Glomerulonephritis, Chronic kidney disease	ORPHA:2172
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Arthritis	OMIM:177900
Melioidosis	Unusual skin infection, Splenic abscess, Prostatitis, Osteoarthritis, Brain abscess, Abnormality ...	ORPHA:31202
Immunodeficiency 104	Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candidiasis, Pneumon...	OMIM:608971
Verrucous Hemangioma	Inflammatory abnormality of the skin	ORPHA:464318
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Lymphopeni...	OMIM:619802
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Atopic dermatitis, Pneumonia	OMIM:617638
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Gray Platelet Syndrome	Impaired collagen-induced platelet aggregation, Splenomegaly, Abnormal number of alpha granules, ...	OMIM:139090
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis	OMIM:260910
Marfanoid Habitus With Microcephaly And Glomerulonephritis	Glomerulonephritis, Renal insufficiency	OMIM:248760
Immunodeficiency 48	Eczematoid dermatitis, Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Absence of CD8-positive...	OMIM:269840
Epiphyseal Dysplasia, Multiple, 5	Genu valgum, Delayed ossification of carpal bones, Premature osteoarthritis, Delayed tarsal ossif...	OMIM:607078
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ...	OMIM:614034
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Neutropenia, ...	OMIM:618986
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid...	OMIM:133180
Widow'S Peak Syndrome	Hip osteoarthritis, Arthralgia/arthritis, Recurrent patellar dislocation	OMIM:314570
Hydrops Fetalis	Nonimmune hydrops fetalis, Abnormality of the lymphatic system, Arrhythmia, Polyhydramnios, Lymph...	ORPHA:1041
Immune Deficiency Disease	Decreased circulating total IgM	OMIM:242850
X-Linked Lymphoproliferative Disease	Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, B lymphocytopeni...	ORPHA:2442
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Joint stiffness, Osteoarthritis	ORPHA:1345
Genetic Steroid-Resistant Nephrotic Syndrome	Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero...	ORPHA:656
Eng-Strom Syndrome	Camptodactyly of finger, Arthritis	ORPHA:1937
Inflammatory Skin And Bowel Disease, Neonatal, 1	Erythroderma, Blepharitis, Increased circulating IgE level, Pustule	OMIM:614328
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Joint swelling, Iridocyclitis, Oligoarthritis, Joint stiffness, Flexion contracture, Hepatospleno...	ORPHA:85408
Nephrotic Syndrome, Type 4	Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros...	OMIM:256370
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Hy...	OMIM:226300
Celiac Disease, Susceptibility To, 1	Decreased circulating IgA level, Hypocalcemia, Steatorrhea, Osteoporosis, Iron deficiency anemia,...	OMIM:212750
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619752
Autoinflammation With Infantile Enterocolitis	Splenomegaly, Reduced natural killer cell activity, Pancytopenia, Anemia, Thrombocytopenia, Reduc...	OMIM:616050
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis	OMIM:618618
Pgm3-Cdg	Abnormal proportion of CD8-positive T cells, Eczema, Chronic sinusitis, Bone marrow hypocellulari...	ORPHA:443811
Boutonneuse Fever	Increased circulating IgM level, Leukopenia, Thrombocytopenia, Increased circulating IgG level	ORPHA:83313
Omenn Syndrome	Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia...	OMIM:603554
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Increased circulating IgG level, Splenomegaly	OMIM:618495
Immunodeficiency 98 With Autoinflammation, X-Linked	Recurrent otitis media, Decreased circulating IgG level, Chronic oral candidiasis, Hemophagocytos...	OMIM:301078
Autoinflammation, Immune Dysregulation, And Eosinophilia	Nephrotic syndrome, Eosinophilia, Hepatosplenomegaly, Atopic dermatitis, Membranous nephropathy, ...	OMIM:618999
Lymphoproliferative Syndrome, X-Linked, 2	Colitis, Folliculitis, Hemophagocytosis, Recurrent skin infections, Splenomegaly, Aplastic anemia...	OMIM:300635
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Hermansky-Pudlak Syndrome 2	Enlarged platelet dense granules, Periodontitis, Chronic oral candidiasis, Recurrent otitis media...	OMIM:608233
Hemophilia A	Joint hemorrhage, Osteoarthritis	OMIM:306700
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo...	OMIM:616892
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Protrusio acetabuli, Hip osteoarthritis, Hip subluxation, Limited hip movement, ...	ORPHA:99642
Hypochondroplasia	Abnormality of the elbow, Osteoarthritis, Joint hyperflexibility, Genu varum	ORPHA:429
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Ascites, Hepatomegaly	ORPHA:2198
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Impaired...	OMIM:608184
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo...	OMIM:231200
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu...	OMIM:616098
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Premature osteoarthritis	OMIM:184840
Poems Syndrome	Increased circulating antibody level, Sclerosis of skull base, Sclerosis of foot bone, Polycythem...	ORPHA:2905
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	OMIM:251190
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities	Hepatosplenomegaly, Ascites	OMIM:600461
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Osteoarthritis	ORPHA:166100
Chilblain Lupus	Pruritis on hand, Discoid lupus rash, Inflammatory abnormality of the skin, Increased circulating...	ORPHA:90280
Immunodeficiency 13	Lymphopenia, B lymphocytopenia, T lymphocytopenia, Recurrent sinusitis, Decreased proportion of C...	OMIM:615518
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:614878
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Joint hypermobility, Recurrent skin infections, Eczema, Atopic dermatitis, Eosinophilia, Chronic ...	OMIM:618282
Epiphyseal Dysplasia, Multiple, 2	Genu varum, Osteochondritis dissecans, Flattened knee epiphyses, Knee osteoarthritis	OMIM:600204
Nephrotic Syndrome, Type 17	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi...	OMIM:618176
Portal Hypertension, Noncirrhotic, 2	Petechiae, Hepatomegaly, Splenomegaly, Ecchymosis, Portal hypertension, Ascites, Epistaxis	OMIM:619463
Sitosterolemia 1	Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Arthritis, Impaired platelet aggregatio...	OMIM:210250
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Hemophilia B	Joint hemorrhage, Osteoarthritis	OMIM:306900
Progressive Pseudorheumatoid Dysplasia	Joint swelling, Joint stiffness, Joint contracture of the hand, Osteoarthritis, Camptodactyly of ...	OMIM:208230
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor...	OMIM:243150
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Bleeding Disorder, Platelet-Type, 17	Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation...	OMIM:187900
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Tempi Syndrome	Polycythemia, Increased circulating IgG level, Increased hematocrit	ORPHA:284227
Alpha-Heavy Chain Disease	Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly	ORPHA:100025
Focal Segmental Glomerulosclerosis 2	Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag...	OMIM:603965
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Neutrophi...	OMIM:617099
Bleeding Disorder, Platelet-Type, 8	Impaired ADP-induced platelet aggregation	OMIM:609821
Primary Myelofibrosis	Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi...	ORPHA:824
Immunodeficiency 76	Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia	OMIM:619164
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Nephrosialidosis	Ascites, Pericardial effusion	OMIM:256150
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation	OMIM:614009
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid...	OMIM:237800
Nephrotic Syndrome, Type 11	Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo...	OMIM:616730
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis, Erythema nodosum	OMIM:611762
Epidermolytic Hyperkeratosis	Erythroderma	OMIM:113800
Transcobalamin Ii Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:275350
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Hyperlipidemia, Gout, Osteoporosis, Impaired glucose tolerance, Hypertriglyc...	OMIM:610947
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol...	ORPHA:276
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level...	OMIM:618213
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Synostosis of carpal bones, Osteoporosis, Genu valgum, Abnormal joint morphology,...	ORPHA:93351
Hemochromatosis, Type 4	Anemia, Osteoarthritis	OMIM:606069
Chylous Ascites	Lymphedema, Ascites	ORPHA:1160
Nephrotic Syndrome, Type 21	Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St...	OMIM:618594
Hypobetalipoproteinemia, Familial, 1	Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc...	OMIM:615558
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Lymphopenia, ...	OMIM:600802
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ...	ORPHA:35078
Hemophilia A With Vascular Abnormality	Joint hemorrhage, Osteoarthritis	OMIM:306800
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Hyperglycemia, Abnor...	ORPHA:2298
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h...	ORPHA:444463
Autoimmune Lymphoproliferative Syndrome	Abnormal proportion of CD8-positive T cells, Gastritis, Uveitis, Bone marrow hypocellularity, Ret...	ORPHA:3261
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev...	OMIM:242860
Isolated Agammaglobulinemia	Sinusitis, Skin rash, Otitis media, Abnormal lymphocyte morphology, Arthritis, Abnormality of neu...	ORPHA:229717
Galloway-Mowat Syndrome 2, X-Linked	Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch...	OMIM:301006
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal urine output, Diffuse mesangial sclerosis, Peritonitis, Abnormal glomerular visceral epi...	ORPHA:567548
Subacute Inflammatory Demyelinating Polyneuropathy	Leukocytosis, Limitation of movement at ankles, Increased circulating IgG level, Limited elbow fl...	ORPHA:206594
Erythema Nodosum, Familial	Erythema nodosum	OMIM:132990
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, B lymphocytopenia, Panhypogammaglobulinemia, Recurrent sinusitis, Decreas...	OMIM:601495
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Genu valgum, Limited elbow extension, Capitate-hamate fusion	OMIM:271650
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Arthritis	OMIM:617772
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral edema, Hydrops fetalis, Abn...	ORPHA:69735
Ectodermal Dysplasia And Immunodeficiency 1	Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ...	OMIM:300291
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Keratitis, Joint contracture of the hand, Craniosynostosis, Eczema, Eosinophilia, Arthropathy, Re...	OMIM:618523
Zika Virus Disease	Thrombocytopenia, Increased circulating IgM level, Arthritis	ORPHA:448237
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Skin ...	ORPHA:275
Alport Syndrome 3, Autosomal Dominant	Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici...	OMIM:104200
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport...	OMIM:243700
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:540
Multiple Epiphyseal Dysplasia Type 5	Joint stiffness, Decreased hip abduction, Osteoarthritis of the small joints of the hand, Delayed...	ORPHA:93311
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgA level, Decreased circulating IgG level, Flexion contracture, Steatorrhe...	OMIM:212065
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,...	OMIM:300853
Netherton Syndrome	Decreased circulating IgG level, Allergic rhinitis, Hypereosinophilia, Erythroderma, Increased ci...	OMIM:256500
Immunodeficiency 23	Neutropenia, Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Hemolytic anemi...	OMIM:615816
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
Splenoportal Vascular Anomalies	Ascites, Splenomegaly	OMIM:271500
Multiple Epiphyseal Dysplasia, Beighton Type	Joint stiffness, Osteoarthritis, Abnormal hip joint morphology, Abnormal acetabulum morphology, G...	ORPHA:166011
Sézary Syndrome	Splenomegaly, Abnormal immunoglobulin level, Pruritus, Erythroderma, Abnormal lymphocyte morphology	ORPHA:3162
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Crescentic glomerulonephritis, Arthritis	OMIM:616414
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ...	ORPHA:33110
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Recurrent fractures, Eczematoid dermatitis, Skin rash, Craniosynostosis, Osteopenia, Eosinophilia...	OMIM:147060
Dengue Fever	Petechiae, Hepatomegaly, Cerebral hemorrhage, Bruising susceptibility, Hypotension, Gingival blee...	ORPHA:99828
Mgat2-Cdg	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Osteo...	ORPHA:79329
Immunodeficiency 46	Chronic oral candidiasis, Sepsis, Meningitis, Intermittent thrombocytopenia, Decreased circulatin...	OMIM:616740
Mucopolysaccharidosis, Type Ix	Periarticular soft-tissue mass, Finger joint hypermobility, Chondrocalcinosis, Popliteal synovial...	OMIM:601492
Immunodeficiency, Common Variable, 8, With Autoimmunity	B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Pancy...	OMIM:614700
Immunodeficiency 58	Colitis, Eczema, Chronic otitis media, Decreased specific antibody response to vaccination, Aller...	OMIM:618131
Immunodeficiency 91 And Hyperinflammation	Nephrotic syndrome, Neutrophilia, Hemophagocytosis, Maculopapular exanthema, Hepatosplenomegaly, ...	OMIM:619644
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Ulnar Hemimelia	Abnormality of the humeroulnar joint, Carpal synostosis, Dislocated radial head, Contracture of t...	ORPHA:93320
Klippel-Trénaunay Syndrome	Hepatomegaly, Hydrops fetalis, Pulmonary embolism, Edema, Internal hemorrhage, Gastrointestinal h...	ORPHA:90308
Neutropenia, Severe Congenital, X-Linked	Eczema, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, H...	OMIM:615688
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Polyhydramnios, Oligohydramnios, Ascites, Splenomegaly	ORPHA:1046
Simple Cryoglobulinemia	Nephrotic syndrome, Viral hepatitis, Nephritis, Mesangial hypercellularity, Abnormality of the ki...	ORPHA:91139
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia	OMIM:193670
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Osteopetrosis, De...	OMIM:612301
Lymphoproliferative Syndrome 1	Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati...	OMIM:613011
Stickler Syndrome Type 1	Osteoarthritis, Joint hyperflexibility	ORPHA:90653
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Decreased circulating IgA level, Inflammatory abnormality of the skin, Lymphopenia, Sinusitis, Sk...	OMIM:102700
Glycogen Storage Disease Iv	Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Edema, Portal hypertension, Ascites, Cardiom...	OMIM:232500
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Joint swelling, Progressive joint destruction, Limitation of joint mobility, Reduced bone mineral...	ORPHA:85435
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Hermansky-Pudlak Syndrome 5	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Absent platelet dense granules, Prol...	OMIM:614074
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei...	OMIM:310468
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency	OMIM:607832
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Wiskott-Aldrich Syndrome	Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci...	OMIM:301000
Candidiasis, Familial, 8	Blepharitis, Seborrheic dermatitis	OMIM:615527
Complement Factor I Deficiency	Recurrent skin infections, Recurrent urinary tract infections, Recurrent sinusitis, Renal insuffi...	OMIM:610984
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis...	ORPHA:324964
Immunodeficiency 17	Recurrent otitis media, Chronic oral candidiasis, Eczema, T lymphocytopenia, Decreased proportion...	OMIM:615607
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Skin rash, Arthritis, Uveitis, Conjunctivitis	OMIM:120100
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly	ORPHA:228312
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Thymoma	Rheumatoid arthritis, Abnormal lymphocyte physiology, Aplastic anemia, Myositis, Imbalanced hemog...	ORPHA:99867
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Autoimmune Hepatitis	Increased circulating antibody level, Viral hepatitis, Splenomegaly, Fulminant hepatitis, Scleros...	ORPHA:2137
Angiostrongyliasis	Increased circulating IgA level, Increased circulating IgG level, Increased circulating specific ...	ORPHA:74
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Eczema, Monocytosis, Leukopenia, Refractory anemia, Bone marrow hypocellularity, Acute myeloid le...	OMIM:616871
Proteasome-Associated Autoinflammatory Syndrome 5	Skin rash, Splenomegaly	OMIM:619175
Dermatoosteolysis, Kirghizian Type	Keratitis, Osteoarthritis, Abnormality of the wrist, Osteolysis, Tarsal synostosis	ORPHA:1657
Bone Marrow Failure Syndrome 5	Anemia, Decreased circulating antibody level, Pure red cell aplasia	OMIM:618165

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