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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
decreased circulating free fatty acids level	Plcg2^Ali14	HET	Early adult	7.50×10^-07
decreased mature B cell number	Plcg2^Ali14	HET	Early adult	7.70×10^-08
increased IgG1 level	Plcg2^Ali14	HET	Early adult	3.25×10^-15
decreased circulating cholesterol level	Plcg2^Ali14	HET	Early adult	2.82×10^-11
decreased hematocrit	Plcg2^Ali14	HET	Early adult	1.04×10^-05
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
increased IgM level	Plcg2^Ali14	HET	Early adult	8.87×10^-06
decreased IgG3 level	Plcg2^Ali14	HET	Early adult	3.13×10^-05
increased IgG2b level	Plcg2^Ali14	HET	Early adult	2.48×10^-06
thrombocytosis	Plcg2^Ali14	HET	Early adult	3.12×10^-06
hyperactivity	Plcg2^Ali14	HET	Early adult	8.63×10^-05
decreased circulating triglyceride level	Plcg2^Ali14	HET	Early adult	5.97×10^-05
abnormal glucose homeostasis	Plcg2^Ali14	HET	Early adult	5.94×10^-05
increased T cell number	Plcg2^Ali14	HET	Early adult	1.35×10^-08
decreased hemoglobin content	Plcg2^Ali14	HET	Early adult	1.40×10^-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 (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 ...	OMIM:612782
Angiostrongyliasis	Stiff neck, Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating...	ORPHA:74
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Autoimmune Hepatitis	Inflammation of the large intestine, Splenomegaly, Sclerosing cholangitis, Increased circulating ...	ORPHA:2137
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Prolonged bleeding tim...	OMIM:614074
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Wiskott-Aldrich Syndrome	Decreased proportion of CD8-positive T cells, Lymphopenia, Increased circulating IgE level, Abnor...	OMIM:301000
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Internal hemo...	ORPHA:90308
Secondary Intestinal Lymphangiectasia	Intestinal bleeding, Right ventricular failure, Anasarca, Lymphedema, Pleural effusion, Constrict...	ORPHA:90363
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Decreased circulating IgG level, Lymphopenia	OMIM:152800
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Viral hepatitis, Paraproteinemia, Monoclonal ...	ORPHA:91139
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Morgagni-Stewart-Morel Syndrome	Osteoporosis, Acne, Osteoarthritis	ORPHA:77296
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt...	OMIM:616576
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr...	OMIM:614131
Dermatoosteolysis, Kirghizian Type	Keratitis, Abnormality of the wrist, Osteoarthritis, Tarsal synostosis, Osteolysis	ORPHA:1657
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Skin rash	OMIM:619175
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der...	ORPHA:324964
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Decreased circulating IgG level, Recurrent pneumonia, Decrea...	OMIM:612301
Ulnar Hemimelia	Abnormality of the humeroulnar joint, Limited elbow flexion, Carpal synostosis, Elbow flexion con...	ORPHA:93320
Generalized Pustular Psoriasis	Lymphopenia, Leukocytosis, Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, ...	ORPHA:247353
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Pruritus, Erythroderma	OMIM:608649
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl...	OMIM:618849
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Inflammatory Bowel Disease 28, Autosomal Recessive	Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis	OMIM:613148
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis	OMIM:120100
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Epidermodysplasia Verruciformis	Pustule, Seborrheic dermatitis, Recurrent skin infections	ORPHA:302
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Skin rash, Joint swelling, Splenomegaly, Arthritis, Juvenile rheumatoid arthrit...	ORPHA:85414
Sialidosis Type 2	Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis, Pedal edema	ORPHA:87876
Systemic Lupus Erythematosus, Susceptibility To, 6	Malar rash, Arthritis, Pericarditis	OMIM:609939
Congenital Ichthyosiform Erythroderma	Pruritus, Keratitis, Erythroderma	ORPHA:79394
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Cirrhotic Cardiomyopathy	Abnormal bleeding, Congestive heart failure, Ascites, Fourth heart sound, Ventricular arrhythmia,...	ORPHA:57777
Glycogen Storage Disease Iv	Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension, Bradycardia, Polyhydramnios, Hy...	OMIM:232500
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Bone marrow h...	ORPHA:1830
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy	ORPHA:26790
Infantile Sialic Acid Storage Disease	Congestive heart failure, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis	OMIM:269920
Cinca Syndrome	Patellar overgrowth, Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Arthritis, Anemia...	OMIM:607115
Bleeding Disorder, Platelet-Type, 12	Joint hemorrhage, Impaired platelet aggregation	OMIM:605735
Brucellosis	Hip osteoarthritis, Septic arthritis, Granuloma, Anorexia, Sacroiliac arthritis, Hypersplenism, L...	ORPHA:1304
Familial Atrial Myxoma	Congestive heart failure, Ascites, Tricuspid regurgitation, Heart murmur, Pedal edema	ORPHA:615
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating IgA level, El...	OMIM:617388
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Cardiomyopathy, Familial Hypertrophic, 4	Atrioventricular block, Congestive heart failure, Ascites, Hypertrophic cardiomyopathy, Transient...	OMIM:115197
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a...	ORPHA:231154
Quinquaud Folliculitis Decalvans	Pustule, Recurrent skin infections	ORPHA:346
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma	ORPHA:1954
Hepatic Veno-Occlusive Disease	Ascites, Hepatomegaly	ORPHA:890
Omenn Syndrome	Pneumonia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Erythroderma...	ORPHA:39041
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Copper Deficiency, Familial Benign	Anemia, Seborrheic dermatitis	OMIM:121270
Lymphatic Malformation 3	Recurrent skin infections	OMIM:613480
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Decreas...	OMIM:618116
Netherton Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Skin rash, Erythroderma, Decreased circul...	ORPHA:634
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Neutropenia, Thrombocytop...	OMIM:617303
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Joint swelling, Splenomegaly, Lipogranulomatosis, Osteoly...	OMIM:228000
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia...	OMIM:275350
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Wolfram Syndrome 2	Decreased circulating antibody level, Impaired collagen-induced platelet aggregation	OMIM:604928
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Panhypogammaglobulinemia, Increa...	OMIM:602450
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne...	OMIM:245480
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Combined Oxidative Phosphorylation Deficiency 10	Ascites, Hypertrophic cardiomyopathy, Oligohydramnios, Pleural effusion, Bradycardia, Pericardial...	OMIM:614702
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Increased circulating IgE le...	OMIM:620565
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Reduced natural killer cell activity, Leukopenia, Hepatosplenomegaly, Pancytope...	OMIM:603553
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Chronic infection, Abnormal bo...	ORPHA:83451
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Anemia, Arthritis, ...	ORPHA:47
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Ascites	OMIM:174050
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Multiple Myeloma	Osteopenia, Pathologic fracture, Elevated circulating creatinine concentration, Splenomegaly, Inc...	ORPHA:29073
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Agammaglobulinemia, X-Linked	Recurrent otitis media, Prostatitis, Neutropenia, Epididymitis, Pyoderma, Recurrent sinusitis, An...	OMIM:300755
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Alopecia-Intellectual Disability Syndrome 4	Erythroderma	OMIM:618840
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	ORPHA:436159
Majeed Syndrome	Inflammatory abnormality of the skin, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Eryth...	OMIM:609628
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Skin rash, Splenomegaly, Increased circulating antibody level, Myositis, Arthritis, ...	OMIM:617591
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Inf...	OMIM:307200
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Alg12-Cdg	Hypoalbuminemia, Recurrent hypoglycemia, Abnormal circulating IgM level, Hypocholesterolemia, Com...	ORPHA:79324
Laron Syndrome	Osteoarthritis, Abnormality of the elbow	ORPHA:633
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis	ORPHA:79099
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
3-Hydroxy-3-Methylglutaric Aciduria	Recurrent hypoglycemia, Anorexia, Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Nonket...	ORPHA:20
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Reduced proportion...	ORPHA:90362
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Congenital Toxoplasmosis	Hepatomegaly, Lymphadenopathy, Ascites	ORPHA:858
Diffuse Neonatal Hemangiomatosis	Ascites, Hepatomegaly, Hydrops fetalis, Polyhydramnios	ORPHA:2123
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Psoriasis 14, Pustular	Polyarticular arthritis, Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutroph...	OMIM:614204
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Limitation of joint mobility, Abnormal joint mo...	ORPHA:47612
Hermansky-Pudlak Syndrome 11	Reduced platelet dense granules, Impaired collagen-induced platelet aggregation	OMIM:619172
Enthesitis-Related Juvenile Idiopathic Arthritis	Hip osteoarthritis, Abnormality of the ankle, Sacroiliac arthritis, Abnormal hip joint morphology...	ORPHA:85438
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Arthritis	ORPHA:3165
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma	ORPHA:312
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Osteomyeli...	OMIM:243700
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo...	ORPHA:93284
Bacterial Toxic-Shock Syndrome	Pneumonia, Hepatitis, Recurrent urinary tract infections, Fasciitis, Osteomyelitis, Renal insuffi...	ORPHA:36234
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Scleri...	ORPHA:93126
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, In...	OMIM:619313
Dermatitis, Atopic	Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Conjunctivitis, Recurrent ...	OMIM:603165
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Recurrent sinusitis, Joint hypermobility, Osteoarthritis, Hyperextensibility o...	OMIM:130000
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Polyarticular arthropathy, ...	ORPHA:2848
Pemphigus Foliaceus	Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Erythroderma, Pruritus	ORPHA:79481
Sydenham Chorea	Septic arthritis, Endocarditis	ORPHA:306731
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Ascites, Pleural effusion, Splenomegaly, Telangiectasia...	OMIM:235200
Gaucher Disease Type 1	Splenic infarction, Osteopenia, Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplen...	ORPHA:77259
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia, Arthritis	OMIM:604250
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Eczematoid dermatitis, Arthropathy, Wormian bones, Oste...	OMIM:259100
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Multiple joint dislocation, Hip subluxation, Elbow flexion contr...	ORPHA:93360
Oligoarticular Juvenile Idiopathic Arthritis	Rheumatoid arthritis, Abnormality of the ankle, Joint hypermobility, Knee osteoarthritis, Oligoar...	ORPHA:85410
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Recurrent...	ORPHA:79124
Potocki-Lupski Syndrome	Hypocholesterolemia, Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia	OMIM:610883
Pseudoachondroplasia	Delayed epiphyseal ossification, Genu recurvatum, Ulnar deviation of the wrist, Genu valgum, Limi...	OMIM:177170
Beta-Thalassemia	Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir...	ORPHA:848
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Anemia, Oligoarthri...	ORPHA:31205
Eiken Syndrome	Delayed epiphyseal ossification, Thin bony cortex, Abnormal bone ossification, Abnormal trabecula...	ORPHA:79106
Mal De Meleda	Flexion contracture, Inflammatory abnormality of the skin, Superficial dermal perivascular inflam...	ORPHA:87503
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Keratolytic Winter Erythema	Pustule	ORPHA:50943
Ichthyosis, Congenital, Autosomal Recessive 5	Erythroderma, Acanthocytosis	OMIM:604777
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Subcorneal Pustular Dermatosis	Pustule, Pruritus, Rheumatoid arthritis, Increased circulating antibody level	ORPHA:48377
Von Willebrand Disease, Type 1	Joint hemorrhage, Prolonged bleeding time, Impaired platelet aggregation	OMIM:193400
Vexas Syndrome	Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti...	OMIM:301054
Lesch-Nyhan Syndrome	Anemia, Gout	ORPHA:510
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo...	OMIM:614376
Tick-Borne Encephalitis	Stiff neck, Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopen...	ORPHA:297
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Increased susceptibility to fr...	ORPHA:77297
Desbuquois Dysplasia 1	Joint dislocation, Advanced tarsal ossification, Joint hypermobility, Phalangeal dislocation, Ost...	OMIM:251450
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Impaired platelet aggregation	OMIM:614076
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Maculopapular exanthema, Splen...	ORPHA:98848
Sapho Syndrome	Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der...	ORPHA:793
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Knee dislocation, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, J...	OMIM:618000
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio...	OMIM:246700
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod...	ORPHA:1310
Glanzmann Thrombasthenia	Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time	ORPHA:849
Rift Valley Fever	Thrombocytopenia, Anorexia, Anemia, Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p...	ORPHA:331235
Vertical Talus, Congenital	Arthritis	OMIM:192950
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia...	OMIM:610725
Congenital Disorder Of Glycosylation, Type Iir	Ascites, Hepatomegaly	OMIM:301045
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Polyarticular arthritis, Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Ant...	OMIM:616744
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen...	OMIM:600785
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Hypocholesterolemia, Splenomegaly, Steatorrhea, Conjugated hyperbilirubinemia	OMIM:607765
Letterer-Siwe Disease	Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Stomatitis	OMIM:246400
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Steatorrhea, Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Reticular Dysgenesis	Leukopenia, Skin rash, Anemia, Abnormality of neutrophils, Decreased circulating antibody level, ...	ORPHA:33355
Neuraminidase Deficiency	Facial edema, Cardiomyopathy, Ascites, Splenomegaly, Hepatomegaly, Hydrops fetalis	OMIM:256550
Maternal Uniparental Disomy Of Chromosome 4	Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, A...	ORPHA:96180
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltration of the esopha...	OMIM:615508
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Erythroderma, Dislocated radial head, Decreased circulating antibody l...	OMIM:617425
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin	ORPHA:90160
Ichthyosis, Hystrix-Like, With Deafness	Punctate keratitis, Erythroderma	OMIM:602540
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis, Myelofibrosis	ORPHA:729
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Ichthyosis With Erythrokeratoderma	Pruritus, Erythroderma	OMIM:620507
Lymphoproliferative Syndrome 2	Ascites, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:615122
Acquired Partial Lipodystrophy	Insulin resistance, Decreased circulating complement C3 concentration, Lymphocytosis	ORPHA:79087
Ichthyosis With Confetti	Pruritus, Erythroderma	OMIM:609165
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Splenomegaly, Thro...	OMIM:222470
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, ...	OMIM:617321
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Primary Biliary Cholangitis	Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Increased c...	ORPHA:186
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Tularemia	Brain abscess, Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Thrombocyto...	ORPHA:3392
Gaucher Disease	Pancytopenia, Increased circulating antibody level, Polyclonal elevation of IgM, Elevated circula...	ORPHA:355
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Epididy...	ORPHA:183675
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane...	OMIM:603552
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Chylomicron Retention Disease	Steatorrhea, Hypocholesterolemia, Acanthocytosis	ORPHA:71
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Immunodeficiency By Defective Expression Of Mhc Class Ii	Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Chronic mucocu...	ORPHA:572
Otospondylomegaepiphyseal Dysplasia	Limitation of joint mobility, Abnormal joint morphology, Abnormally ossified vertebrae, Osteoarth...	ORPHA:1427
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Congestive heart failure, Ascites, Hepatosplenomegaly, Polyhydramnios, Po...	ORPHA:367
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Free Sialic Acid Storage Disease	Hepatomegaly, Hydrops fetalis, Splenomegaly, Ascites	ORPHA:834
Stickler Syndrome, Type I	Joint stiffness, Joint hypermobility, Arthropathy, Osteoarthritis, Arthritis	OMIM:108300
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Decreased circulating IgG level, Bone marrow hypocellularity, Hepatosplenomegaly...	ORPHA:505248
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia	ORPHA:158014
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Lymphatic Malformation 6	Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Intestinal lymphangiectasia, P...	OMIM:616843
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Melorheostosis	Increased bone mineral density, Joint stiffness, Ectopic ossification in muscle tissue, Arthritis	ORPHA:2485
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Lymphocytosis, Erythroderma, Myeloproliferative disorder, Pruritus	ORPHA:79456
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin...	ORPHA:94093
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Gout, Renal insufficiency, Renal tu...	OMIM:162000
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Ichthyosis, Congenital, Autosomal Recessive 1	Flexion contracture, Erythroderma	OMIM:242300
Syndromic Diarrhea	Panhypogammaglobulinemia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Ab...	ORPHA:84064
Elastoderma	Eczematoid dermatitis, Erysipelas	ORPHA:228240
Phoar2-Enteropathy Syndrome	Seborrheic dermatitis, Acne	OMIM:614441
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, L...	ORPHA:289390
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dec...	ORPHA:221139
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple...	OMIM:615468
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Genu varum, Osteoarthritis	OMIM:602111
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia	OMIM:603585
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Limitation of joint mobility, Polyarticular arthritis, Sacroiliac arthritis, Abnormality...	ORPHA:85436
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof...	OMIM:231095
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Pfapa Syndrome	Splenomegaly, Arthritis, Infectious encephalitis	ORPHA:42642
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Generalized bone demineralization, Abnormal T cell morphology	OMIM:215250
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H...	OMIM:616860
Tafro Syndrome	Anasarca, Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:457077
Ovarian Hyperstimulation Syndrome	Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Capillary leak, ...	ORPHA:64739
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Anasarca, Cardiomyopathy, Congestive heart failure, Ascites, Hypertrophic cardiomyop...	OMIM:261740
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Skin rash, ...	OMIM:260920
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Ascites, Hypertro...	ORPHA:464321
Hypocomplementemic Urticarial Vasculitis	Angioedema, Ascites, Pleural effusion, Splenomegaly, Lymphadenopathy, Hepatomegaly, Pericardial e...	ORPHA:36412
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr...	ORPHA:231222
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Acute kidney injury, Rheumatoid arthritis, Psoriasiform dermatitis, Renal insu...	ORPHA:49041
Lamellar Ichthyosis	Pruritus, Erythroderma, Chronic otitis media	ORPHA:313
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Ascites, Portal hypertension, Splenomegaly, Hepatomegaly	ORPHA:131
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Abnormal bleeding, Ascites, Hypersplenism, Portal hypertension, Sple...	ORPHA:64743
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Hypocholesterolemia, Osteoporosis, Elevated circulating phytanic acid concentration	OMIM:266510
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level, Colitis	OMIM:615190
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Ascites, Hepatosplenomegaly, Hypersplenism, Portal hype...	ORPHA:98850
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati...	OMIM:300972
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Pachydermoperiostosis	Limitation of joint mobility, Eczematoid dermatitis, Osteolysis, Osteomyelitis, Joint swelling, S...	ORPHA:2796
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, B lymphocytopenia	OMIM:619851
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Iron deficiency anemia, Glomerulonephritis	ORPHA:99931
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra...	OMIM:616834
Von Willebrand Disease	Abnormality of thrombocytes, Microcytic anemia, Thrombocytopenia, Joint hemorrhage, Abnormal plat...	ORPHA:903
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Osteomalacia, Hepatosplenomegaly, Genu valgum, Hypophosphatemic rickets, Osteoarthritis	OMIM:307800
Cystic Echinococcosis	Peritoneal abscess, Splenic cyst, Abscess, Increased circulating antibody level, Renal cyst, Eosi...	ORPHA:400
Harlequin Ichthyosis	Limitation of joint mobility, Erythroderma	ORPHA:457
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Periodic Fever, Familial, Autosomal Dominant	Erysipelas, Polyarticular arthritis, Skin rash, Myositis, Oligoarthritis, Conjunctivitis, Maculop...	OMIM:142680
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a...	ORPHA:906
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis	OMIM:618985
Carney Triad	Gastrointestinal hemorrhage, Ascites, Hypertension, Arrhythmia, Lymphadenopathy, Tachycardia, Med...	ORPHA:139411
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He...	ORPHA:39812
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Pseudo-Torch Syndrome 2	Ascites, Pleural effusion, Bradycardia, Petechiae, Cerebral hemorrhage, Hepatomegaly	OMIM:617397
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody positivity, Lupus anticoagul...	OMIM:620376
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Mulibrey Nanism	Hepatomegaly, Hydrops fetalis, Ascites, Congestive heart failure	OMIM:253250
Ichthyosis, Congenital, Autosomal Recessive 9	Erythroderma	OMIM:615023
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Hepatitis, Interstitial pneumonitis, Skin rash, Joint ...	ORPHA:829
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas...	ORPHA:274
Hemophilia A	Joint hemorrhage, Osteoarthritis	OMIM:306700
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Wolman Disease	Ascites, Hepatomegaly, Splenomegaly	ORPHA:75233
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Adult-Onset Nemaline Myopathy	Paraproteinemia, Flexion contracture, Neuromuscular dysphagia, Mildly elevated creatine kinase	ORPHA:171442
Bathing Suit Ichthyosis	Erythroderma, Multiple joint contractures	ORPHA:100976
Hermansky-Pudlak Syndrome 6	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:614075
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Genu varum	ORPHA:93356
Muckle-Wells Syndrome	Camptodactyly of finger, Recurrent aphthous stomatitis, Episcleritis, Skin rash, Splenomegaly, Ar...	ORPHA:575
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, L...	OMIM:613179
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Familial Mediterranean Fever	Erysipelas, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, Arthritis...	ORPHA:342
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Splenomegaly	OMIM:608776
Lassa Fever	Increased circulating IgM level, Dysphagia	ORPHA:99824
Familial Cold Urticaria	Conjunctivitis, Pruritus, Arthritis	ORPHA:47045
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Orchitis, Hematuria, Knee osteoarthritis,...	ORPHA:2035
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol conce...	ORPHA:330015
Combined Oxidative Phosphorylation Deficiency 5	Ascites, Hypertrophic cardiomyopathy, Edema	OMIM:611719
Japanese Encephalitis	Anorexia, Stiff neck, Elbow flexion contracture, Increased circulating antibody level, Hyponatrem...	ORPHA:79139
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level	OMIM:615872
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Squalene Synthase Deficiency	Elbow flexion contracture, Hypocholesterolemia, Knee flexion contracture, Decreased LDL cholester...	OMIM:618156
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Malignant Peritoneal Mesothelioma	Ascites, Pedal edema	ORPHA:168811
Lysinuric Protein Intolerance	Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Hemophagocytosis, Oroticaciduria, Decreased gl...	ORPHA:470
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis	OMIM:254400
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Second degree atrioventricular block, Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Pulmon...	OMIM:617021
Dubowitz Syndrome	Decreased circulating IgG level, Aplastic anemia, Hypocholesterolemia, Decreased circulating IgA ...	OMIM:223370
Idiopathic Camptocormia	Myositis, Myelitis, Osteoarthritis, Abnormal inflammatory response	ORPHA:1320
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Immunodeficiency 110 With Lymphoproliferation	Recurrent pneumonia, Chronic mucocutaneous candidiasis, Molluscum contagiosum, Lymphopenia, Disse...	OMIM:614868
Dyskeratosis Congenita, Digenic	Anemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating t...	OMIM:620040
Blau Syndrome	Flexion contracture of toe, Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodacty...	OMIM:186580
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco...	ORPHA:911
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, Thro...	ORPHA:3260
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Griscelli Syndrome	Ascites, Splenomegaly, Lymphadenopathy, Hepatomegaly, Pedal edema	ORPHA:381
Ovarian Fibroma	Ascites, Pleural effusion	ORPHA:314473
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, Recurrent aphthous stomatitis, B lymphocytopenia, Pachyg...	OMIM:615966
Niemann-Pick Disease, Type A	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites	OMIM:257200
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Folliculitis, Enterocolitis, Pancolitis	OMIM:612567
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Interstitial Lung And Liver Disease	Anemia, Hyperammonemia, Thrombocytosis	OMIM:615486
Abetalipoproteinemia	Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apoli...	ORPHA:14
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pneumonia, Recurrent otitis media, Abnormal lymphocyte morphology, Decreased circulatin...	ORPHA:293978
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Decreased serum creatinine,...	OMIM:617744
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227982
Ebola Hemorrhagic Fever	Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Dysphagia	ORPHA:319218
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr...	OMIM:614377
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Osteomalacia, Recurrent otitis media, Recurrent s...	OMIM:619381
Hemophilia B	Joint hemorrhage, Osteoarthritis	OMIM:306900
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp...	ORPHA:3202
Cholestasis, Progressive Familial Intrahepatic, 5	Ascites, Pleural effusion, Prolonged prothrombin time, Nonimmune hydrops fetalis	OMIM:617049
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
X-Linked Dominant Chondrodysplasia Punctata	Epiphyseal stippling, Anterior rib punctate calcifications, Erythroderma, Neonatal epiphyseal sti...	ORPHA:35173
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo...	ORPHA:100026
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Hematuria, Inc...	ORPHA:48435
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Eosinophilic Gastroenteritis	Ascites, Hematochezia, Edema	ORPHA:2070
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Limitation of joint mobility	OMIM:313400
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Premature osteoarthritis, Recurrent pneumonia, Flexion contracture, Enlarged joints	OMIM:215150
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem...	ORPHA:251004
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia	ORPHA:31150
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:70578
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Hemochromatosis, Type 2A	Splenomegaly, Arthritis	OMIM:602390
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Gout, Neutropenia	OMIM:617056
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent...	OMIM:256040
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Seborrheic dermatitis, Acne	OMIM:167100
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Elevated circulating C-reactive...	ORPHA:2902
Multiple Epiphyseal Dysplasia Type 4	Limitation of joint mobility, Stiff ankle, Elbow flexion contracture, Premature osteoarthritis, D...	ORPHA:93307
Prolidase Deficiency	Anemia, Splenomegaly, Thrombocytopenia, Increased circulating antibody level	OMIM:170100
Cholestasis, Progressive Familial Intrahepatic, 3	Ascites, Hepatomegaly, Splenomegaly	OMIM:602347
Cogan Syndrome	Anemia, Leukocytosis, Thrombocytosis	ORPHA:1467
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Premature osteoarthritis, Hepatosplenomegaly, Joint hypermobilit...	ORPHA:93352
Mogs-Cdg	Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Thrombocyto...	ORPHA:79330
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Retinal hemorrhage, Hepatomegaly, Tachycardia, Purpura, Diffuse alveolar hemor...	ORPHA:99827
Congenital Fibrinogen Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Subcutaneous hemorrhage, Abnormal ...	ORPHA:335
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal enchondral ossification, Premature osteoarthritis, Abno...	ORPHA:93314
Sweet Syndrome	Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ...	ORPHA:3243
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Facial edema, Pulmonary embolism, Anasarca, Ascites, Pleural effusion, Palpebral edema, Hypertens...	ORPHA:567546
Anti-Glomerular Basement Membrane Disease	Anemia, Arthritis	ORPHA:375
Aicardi-Goutieres Syndrome 6	Increased circulating Interferon-alpha concentration, Hemolytic anemia, Splenomegaly, Thrombocyto...	OMIM:615010
Fusariosis	Pneumonia, Keratitis, Granuloma, Brain abscess, Fasciitis, Osteomyelitis, Abnormality of the sple...	ORPHA:228119
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Splenomegaly, Anorexia, Leukemia, Abn...	ORPHA:33226
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Ichthyosis, Congenital, Autosomal Recessive 6	Erythroderma	OMIM:612281
Congenital Sialidosis Type 2	Abnormal EKG, Ascites, Hepatosplenomegaly, Petechiae, Telangiectasia, Hepatomegaly, Edema	ORPHA:93400
Combined Oxidative Phosphorylation Deficiency 53	Septic arthritis, Osteomyelitis, Hypochromic microcytic anemia, Arthritis	OMIM:619423
Congenital Disorder Of Glycosylation, Type If	Flexion contracture, Erythroderma	OMIM:609180
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Leukocytosis, Splenome...	OMIM:615895
Protoporphyria, Erythropoietic, 1	Pruritus, Hemolytic anemia, Eczematoid dermatitis	OMIM:177000
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ascites, Hypertrophic cardiomyopathy, Pleural effusion, Polyhydramnios, Hydrops fetalis	OMIM:616897
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Oligohydramnios, Edema, Ascites	OMIM:608104
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:508533
Acute Lung Injury	Increased circulating interleukin 6 concentration, Abnormal circulating cytokine concentration, A...	ORPHA:178320
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Primary Hepatic Neuroendocrine Carcinoma	Right ventricular failure, Ascites, Palpitations, Chronic noninfectious lymphadenopathy, Facial t...	ORPHA:100085
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdome...	ORPHA:64745
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Conjunctivitis, Erythroderma	OMIM:242150
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Anuria, Decreased glomerular fi...	ORPHA:340
Scedosporiosis	Pneumonia, Unusual skin infection, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthrit...	ORPHA:449280
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Biotinidase Deficiency	Skin rash, Splenomegaly, Seborrheic dermatitis, Conjunctivitis, Recurrent skin infections	OMIM:253260
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Lymphedema, Pancreatic lymphangiectasis, Ascites, Polyhydramnios, Splenomegaly, Thyroid lymphangi...	OMIM:235255
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Coronal craniosynostosis, Decreased mean corpuscular volume, Increased...	OMIM:616943
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Malar ...	ORPHA:93552
Mixed Connective Tissue Disease	Joint stiffness, Leukopenia, Skin rash, Joint swelling, Splenomegaly, Myositis, Gastritis, Kerato...	ORPHA:809
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif...	OMIM:137940
Wilson Disease	Hepatitis, Pathologic fracture, Joint swelling, Splenomegaly, Anemia, Arthritis, Thrombocytopenia...	ORPHA:905
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Systemic Lupus Erythematosus	Discoid lupus rash, Leukopenia, Malar rash, Hematuria, Proteinuria, Lupus nephritis, Arthritis, T...	ORPHA:536
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Coccidioidomycosis	Granuloma, Abnormality of the spleen, Osteomyelitis, Abscess, Eosinophilia, Arthritis, Increased ...	ORPHA:228123
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h...	OMIM:615234
Idiopathic Localized Lipodystrophy	Pruritus, Inflammatory abnormality of the skin	ORPHA:90158
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Increased hepatitis B virus antibody level	ORPHA:90003
Wild Type Abeta2M Amyloidosis	Arthritis, Arthropathy	ORPHA:85446
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand	OMIM:190350
Hyperimmunoglobulinemia D With Periodic Fever	Limitation of joint mobility, Recurrent aphthous stomatitis, Peritonitis, Increased circulating I...	ORPHA:343
Antisynthetase Syndrome	Joint dislocation, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis, Pruritus	ORPHA:81
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Thin bony cortex, Rickets, Sparse bone trabeculae	OMIM:600081
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia, Increased circulating IgG level, Increased circulating IgM level, Granuloma	ORPHA:562639
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:263400
Hermansky-Pudlak Syndrome 8	Impaired platelet aggregation	OMIM:614077
Gracile Bone Dysplasia	Ascites, Asplenia, Hypoplastic spleen	OMIM:602361
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Osteomyelitis, Renal insufficiency, Proteinuria, Glo...	ORPHA:90291
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymphopenia, Hepatosplenome...	OMIM:618935
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Flexion contracture, Keratoconjunctivitis sicca, Erythroderma	OMIM:601675
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Periodontitis, Hemophagocytosis, Abnormal natural killer ce...	ORPHA:167
Igg4-Related Submandibular Gland Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449432
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Thrombocytopenia, Increased ci...	ORPHA:79078
Marshall Syndrome	Genu valgum, Osteoarthritis	ORPHA:560
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Yellow Fever	Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula...	ORPHA:99829
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, Abnormal T cell morphology...	ORPHA:760
Behcet Syndrome	Iridocyclitis, Erythema nodosum, Arthritis, Epididymitis, Iritis	OMIM:109650
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Osteopenia, Decreased circulating IgA level, Hyperinsulinemia, Splenomegaly, ...	OMIM:613327
Takayasu Arteritis	Inflammatory abnormality of the eye, Increased inflammatory response, Anemia, Arthritis	ORPHA:3287
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Pulmonary lymphangiomyomatosis, Ab...	ORPHA:538
Alpha-Mannosidosis	Synostosis of joints, Splenomegaly, Chronic otitis media, Arthritis	ORPHA:61
Cirrhosis, Familial	Ascites, Pulmonary arterial hypertension, Hypertension	OMIM:215600
Reynolds Syndrome	Xerostomia, Ascites, Telangiectasia of the skin, Hepatomegaly, Mucosal telangiectasiae	ORPHA:779
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Lambert Syndrome	Decreased circulating antibody level	ORPHA:1296
Classic Galactosemia	Hepatomegaly, Ascites	ORPHA:79239
Alg8-Cdg	Ascites, Oligohydramnios, Hydrops fetalis, Edema	ORPHA:79325
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Ovarian Fibrothecoma	Ascites, Pleural effusion	ORPHA:314478
Mucopolysaccharidosis Type 7	Ascites, Hydrops fetalis, Splenomegaly, Lymphedema	ORPHA:584
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra...	OMIM:300554
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Systemic lupus erythematosus, Autoimmunity, Splenomegaly, Increased ...	ORPHA:158061
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Gaucher Disease, Perinatal Lethal	Ascites, Hepatosplenomegaly, Polyhydramnios, Splenomegaly, Petechiae, Nonimmune hydrops fetalis, ...	OMIM:608013
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma	ORPHA:542592
Microscopic Polyangiitis	Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art...	ORPHA:727
Bloom Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	ORPHA:125
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Thin ...	OMIM:241530
Alkaptonuria	Joint dislocation, Joint stiffness, Hemolytic anemia, Increased susceptibility to fractures, Join...	ORPHA:56
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Increased circulating IgE level, Osteomyelitis, Joint hypermobility, Eosinophilia, Cr...	ORPHA:2314
Aicardi-Goutieres Syndrome 9	Ascites, Hepatosplenomegaly, Portal hypertension, Hypertension, Hepatomegaly, Pericardial effusio...	OMIM:619487
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas...	OMIM:620005
Loeys-Dietz Syndrome 5	Joint hypermobility, Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finge...	OMIM:615582
Primary Sclerosing Cholangitis	Hypoalbuminemia, Osteopenia, Type I diabetes mellitus, Hepatosplenomegaly, Splenomegaly, Polyclon...	ORPHA:171
Diarrhea 10, Protein-Losing Enteropathy Type	Hematochezia, Anasarca, Ascites, Pleural effusion, Polyhydramnios, Pericardial effusion	OMIM:618183
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Reduced circulating complement concentration, Eosinophilia, Ele...	ORPHA:449427
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated circulating creatine kinase ...	OMIM:610377
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Self-injurious behavior, Recurrent hand flapping, Joint hypermobility, Persistence of hemoglobin F	OMIM:617101
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hypermobil...	OMIM:619656
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Osteomalacia, Leukocytosis, Splenom...	ORPHA:289157
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Splenomegaly, Ascites	OMIM:617394
Eisenmenger Syndrome	Elevated jugular venous pressure, Hepatomegaly, Pedal edema, Right ventricular failure, Ascites, ...	ORPHA:97214
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased susceptibility to fractures, Increased circulating antibody...	ORPHA:77261
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Increased circulating antibody level, Hypercholesterolemia, Hypo...	ORPHA:86816
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Lyme Disease	Infectious encephalitis, Joint swelling, Arthritis, Uveitis	ORPHA:91546
Trichothiodystrophy	Osteopenia, Joint dislocation, Eczematoid dermatitis, Increased mean corpuscular hemoglobin conce...	ORPHA:33364
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Eczematoid dermatitis, Lymphopenia, Leukopenia, Reticulocytopenia, B...	ORPHA:508542
Zinc Deficiency, Transient Neonatal	Eczematoid dermatitis	OMIM:608118
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:270150
Dowling-Degos Disease	Pruritus, Acne inversa, Arthritis	ORPHA:79145
Necrotizing Enterocolitis	Hypotension, Ascites, Shock, Bradycardia, Edema	ORPHA:391673
Bloom Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM...	OMIM:210900
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Chondrodysplasia Punctata 2, X-Linked Dominant	Stippled calcification in carpal bones, Epiphyseal stippling, Tarsal stippling, Erythroderma, Pat...	OMIM:302960
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231226
Nail-Patella Syndrome	Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome	OMIM:161200
Kid Syndrome	Folliculitis, Posterior blepharitis, Acne inversa, Keratitis, Patellar hypoplasia, Psoriasiform d...	ORPHA:477
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Myositis, Perito...	ORPHA:32960
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Increased circulating IgE level, Osteoporosis, Recurrent fractures, Flex...	ORPHA:3409
Bone Marrow Failure Syndrome 5	Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level	OMIM:618165
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Polyhydramnios, Splenomegaly, Pulmonary...	ORPHA:1655
Hereditary Spherocytosis	Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary...	ORPHA:822
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Irregular ossification at anterior rib ends, Acute mye...	OMIM:260400
Pneumocystosis	Abnormal neutrophil count, Increased circulating antibody level	ORPHA:723
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia	OMIM:618810
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosi...	OMIM:618278
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Pterygium, Osteolysis involving tarsal bones, Increased susceptibi...	ORPHA:371428
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Kawasaki Disease	Hypoalbuminemia, Leukocytosis, Arthritis, Thrombocytosis, Elevated circulating C-reactive protein...	ORPHA:2331
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ...	ORPHA:289176
Rhabdoid Tumor	Internal hemorrhage, Hypertension, Lymphadenopathy	ORPHA:69077
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231214
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Neutropenia	OMIM:616395
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Patellar aplasia, Patellar disloc...	ORPHA:2614
Overlap Myositis	Rheumatoid arthritis, Systemic lupus erythematosus, Leukopenia, Subluxation of the small joints o...	ORPHA:206572
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Tracheomalacia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Thin bony cortex, Rickets, Sparse bone trabeculae	OMIM:264700
Ataxia-Telangiectasia	Lymphopenia, Decreased circulating antibody level	ORPHA:100
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Thin bony cortex, Rickets, Sparse bone trabeculae	OMIM:277440
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulating antibod...	ORPHA:90045
Eosinophilic Granulomatosis With Polyangiitis	Skin rash, Increased inflammatory response, Myositis, Myocarditis, Eosinophilia, Arthritis, Sinus...	ORPHA:183
Adiposis Dolorosa	Recurrent skin infections, Arthritis	ORPHA:36397
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Recu...	ORPHA:391487
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anorexia, Anemia	ORPHA:514
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Severe B lymphocytopenia, Eczematoid dermatitis, Contracture of the dis...	ORPHA:83617
Adams-Oliver Syndrome	Ascites, Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Portal hypertension	ORPHA:974
Maternal Uniparental Disomy Of Chromosome 1	Pancytopenia, Panhypogammaglobulinemia	ORPHA:251009
Achalasia, Familial Esophageal	Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:200400
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233710
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Joint stiffnes...	ORPHA:29207
Severe Hemophilia A	Limitation of joint mobility, Progressive joint destruction, Joint swelling, Synovitis, Anemia, L...	ORPHA:169802
Acute Generalized Exanthematous Pustulosis	Pruritus, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic derma...	ORPHA:293173
Roifman-Chitayat Syndrome	Pneumonia, Osteopenia, Arthritis	OMIM:613328
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Chikungunya	Osteolysis, Joint stiffness, Skin rash, Joint swelling, Infectious encephalitis, Crusting erythem...	ORPHA:324625
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Gout	OMIM:618061
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Cervical subluxation, Arthritis	OMIM:184100
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex	OMIM:300009
Good Syndrome	Recurrent skin infections, Abnormal leukocyte morphology, Thrombocytopenia, Sinusitis, Anemia, De...	ORPHA:169105
Acquired Purpura Fulminans	Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage	ORPHA:49566
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t...	ORPHA:79408
Aortic Aneurysm, Familial Thoracic 12	Arthritis	OMIM:619825
Transketolase Deficiency	Conjunctivitis, Seborrheic dermatitis, Uveitis	ORPHA:488618
Aspergillosis	Increased circulating IgE level, Osteomyelitis, Eosinophilia, Neutropenia	ORPHA:1163
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Flexion contracture, HbH hemoglobin	ORPHA:98791
Wilson Disease	Chondrocalcinosis, Osteomalacia, Splenomegaly, Joint hypermobility, Atypical or prolonged hepatit...	OMIM:277900
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hepatosplenomegaly, Decreased circulating antibody level, Autoimmune hemolytic anemia, Eosinophil...	OMIM:615952
Familial Mediterranean Fever	Erysipelas, Leukocytosis, Splenomegaly, Crohn's disease, Orchitis, Peritonitis, Arthritis, Neutro...	OMIM:249100
Glycogen Storage Disease Vii	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Gout, Reticulocytosis	OMIM:232800
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233690
Hennekam Syndrome	Chylothorax, Lymphedema, Ascites, Splenomegaly, Lymphadenopathy, Hydrops fetalis, Pulmonary lymph...	ORPHA:2136
Farber Disease	Ascites, Hepatosplenomegaly, Joint swelling, Lymphadenopathy, Hydrops fetalis	ORPHA:333
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni...	OMIM:607944
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Mhc Class Ii Deficiency 1	Agammaglobulinemia, Cutaneous anergy, Neutropenia, Panhypogammaglobulinemia	OMIM:209920
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis	ORPHA:397744
Aapoaiv Amyloidosis	Paraproteinemia, Elevated circulating creatinine concentration, Hyperlipidemia, Diabetes mellitus	ORPHA:439232
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Anemia, Neutropenia, Leukemia, ...	ORPHA:2909
Q Fever	Granuloma, Osteomyelitis, Hepatosplenomegaly, Splenomegaly, Increased circulating antibody level,...	ORPHA:781
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Increased circulating antibody level, Increased circulating...	ORPHA:85443
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Decreased circulating antibody level	ORPHA:353298
Spondyloenchondrodysplasia	Pneumonia, Granuloma, Hepatitis, Pancytopenia, Skin rash, Autoimmune hemolytic anemia, Arthritis,...	ORPHA:1855
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent otitis media, Autoimmune hemolytic anemia, Dysgammaglobulinemia, S...	OMIM:251260
Listeriosis	Arteritis, Abscess, Pustule, Endocarditis, Unusual skin infection, Osteomyelitis, Peritonitis, He...	ORPHA:533
Osteogenesis Imperfecta	Osteopenia, Fractures of the long bones, Genu valgum, Reduced bone mineral density, Increased sus...	ORPHA:666
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Osteoarthritis	OMIM:619714
Rheumatic Fever	Arthritis, Sinusitis, Myocarditis, Endocarditis, Pericarditis	ORPHA:3099
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Splenomegaly, Ascites	OMIM:251880
Riddle Syndrome	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:420741
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Pleural effusion, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:306400
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Hypertrophic cardiomyopathy, Ascites, Splenomegaly, Prolonged prothr...	OMIM:276700
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Gout, Arthritis	ORPHA:411543
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hyper...	ORPHA:284984
Monosomy 22	Contractures of the large joints, Hepatosplenomegaly, Joint swelling, Aplasia of the thymus, Sebo...	ORPHA:96123
Cocaine Intoxication	Acute kidney injury, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerstitial nephritis, Co...	ORPHA:90068
Peripheral Primitive Neuroectodermal Tumor	Ascites, Abnormal bleeding, Pelvic mass	ORPHA:370348
Whipple Disease	Splenomegaly, Infectious encephalitis, Myositis, Anemia, Arthritis, Myocarditis, Pericarditis, Uv...	ORPHA:3452
Alveolar Echinococcosis	Cutaneous abscess, Increased circulating antibody level, Eosinophilia, Abnormal spleen morphology...	ORPHA:284
Cryoglobulinemic Vasculitis	Keratoconjunctivitis sicca, Splenomegaly, Arthritis, Viral hepatitis	ORPHA:91138
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis	ORPHA:411536
Hunter-Macdonald Syndrome	Joint contracture of the hand, Delayed cranial suture closure, Premature osteoarthritis, Cubitus ...	OMIM:611962
Thrombocytopenia-Absent Radius Syndrome	Carpal synostosis, Hepatosplenomegaly, Leukocytosis, Patellar aplasia, Carpal bone hypoplasia, Eo...	OMIM:274000
Gallbladder Neuroendocrine Tumor	Ascites, Chronic noninfectious lymphadenopathy	ORPHA:100086
Lymphatic Malformation 13	Lymphedema, Ascites, Mitral regurgitation, Nonimmune hydrops fetalis, Pulmonary arterial hyperten...	OMIM:620244
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Decreased circulating antibody level	OMIM:619750
Wolcott-Rallison Syndrome	Hepatomegaly, Dehydration, Ascites	ORPHA:1667
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Hypoalbuminemia, Hypoglycemia, Lymphopenia, Abnormal lymph...	ORPHA:99826
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating creatinine concentration, Reduced hematocrit, Increased c...	ORPHA:91500
Shigellosis	Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Leukocytosis, Abscess, Peritoni...	ORPHA:810
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Pancytopenia, Chilblains, Skin rash,...	OMIM:615846
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Anasarca, Third degree atrioventricular block, Cervical lymphadenopathy, ...	OMIM:619573
Congenital Syphilis	Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Anemia, Osteoc...	ORPHA:499009
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Ascites, Hydrops fetalis	OMIM:614091
Immunodeficiency 55	Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Neutropenia, Recurrent skin infe...	OMIM:617827
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Anemia, Neutropenia, Leukemia	ORPHA:221008
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ...	ORPHA:589
Moderate Hemophilia A	Limitation of joint mobility, Joint swelling, Hip contracture, Arthropathy, Synovitis, Joint hemo...	ORPHA:169805
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Aspiration pneumonia, Splenomegaly, Seborrheic dermatitis, Thrombocytopenia, Limb joint contractu...	OMIM:301072
Caroli Disease	Hepatomegaly, Portal hypertension, Splenomegaly, Ascites	ORPHA:53035
Lymphatic Malformation 12	Polyhydramnios, Fetal ascites, Nonimmune hydrops fetalis, Lymphedema	OMIM:620014
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Ascites, Polysplenia	OMIM:200995
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Lysosomal Acid Lipase Deficiency	Hypotension, Ascites, Hepatosplenomegaly, Hypersplenism, Pulmonary arterial hypertension, Dehydra...	ORPHA:275761
Congenital Myopathy 22B, Severe Fetal	Ascites, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Hepatomegaly	OMIM:620369
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Lymphadenitis	ORPHA:90156
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout	OMIM:603860
Atresia Of Urethra	Ascites, Pulmonary insufficiency, Oligohydramnios	ORPHA:105
Alkaptonuria	Limited hip movement, Intervertebral disk degeneration, Arthropathy, Limited shoulder movement, A...	OMIM:203500
Rheumatoid Arthritis	Joint stiffness, Rheumatoid arthritis, Joint swelling, Polyarticular arthritis	OMIM:180300
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Igg4-Related Thyroid Disease	Increased circulating IgG4 level, Dysphagia, Hypocalcemia	ORPHA:64744
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Limitation of joint mobility, Recurrent aphthous stomatitis, Chond...	ORPHA:728
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint stiffness, Joint swelling, Splenomegaly, Arthropathy, Arthritis, Osteoporosis, Stiff interp...	ORPHA:465508
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Seborrheic dermatitis	OMIM:210210
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein...	OMIM:233450
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Anemia, Neutropenia, Leukemia	ORPHA:221016
Vici Syndrome	Decreased circulating IgG level, Cutaneous anergy, Lymphopenia, Leukopenia, Decreased proportion ...	OMIM:242840
Stickler Syndrome	Joint dislocation, Genu valgum, Joint hypermobility, Osteoarthritis, Chronic otitis media, Reduce...	ORPHA:828
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Thrombocyto...	OMIM:242900
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Chondrocalcinosis, Impaired platelet aggregation	OMIM:241200
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Ascites	OMIM:259720
Refractory Celiac Disease	Normocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, Abnormal spleen physi...	ORPHA:398063
Xfe Progeroid Syndrome	Ascites, Hypertension	OMIM:610965
Macrocephaly/Autism Syndrome	Lymphopenia, Decreased circulating antibody level, Splenomegaly	OMIM:605309
Catastrophic Antiphospholipid Syndrome	Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Thrombocytopenia, Arthritis,...	ORPHA:464343
Grfoma	Gastrointestinal hemorrhage, Abnormal abdomen morphology, Neoplasm of the thymus, Ascites, Hepato...	ORPHA:97261
Classical Ehlers-Danlos Syndrome	Osteopenia, Shoulder dislocation, Joint swelling, Generalized joint hypermobility, Phalangeal dis...	ORPHA:287
Short-Rib Thoracic Dysplasia 12	Ascites, Polyhydramnios, Splenomegaly, Hepatomegaly, Edema	OMIM:269860
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr...	ORPHA:454831
Congenital Enterovirus Infection	Fetal ascites, Hypotension, Abnormal bleeding, Cardiomyopathy, Pleural effusion, Myocarditis, Pol...	ORPHA:292
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Limitation of joint mobility, Contractures of the large joints, Flexion contr...	ORPHA:580
Marfan Syndrome	Genu recurvatum, Premature osteoarthritis, Limited elbow extension, Joint hypermobility, Camptoda...	OMIM:154700
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Hypocholesterolemia, Epiphyseal stippling, Splenomegaly, Elevated circulating 7-...	OMIM:270400
Functioning Gonadotropic Adenoma	Ascites	ORPHA:91348
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia	OMIM:244450
Acromegaly	Acne, Joint swelling, Osteoarthritis	ORPHA:963
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Limited wrist movement, Limited hip movement, Joint stiffness, Limi...	ORPHA:740
Localized Scleroderma	Fasciitis, Sclerosis of finger phalanx, Esophagitis, Hashimoto thyroiditis, Arthritis, Flexion co...	ORPHA:90289
Intrahepatic Cholestasis Of Pregnancy	Ascites	ORPHA:69665
Loeys-Dietz Syndrome 3	Hip osteoarthritis, Osteopenia, Osteochondritis dissecans, Intervertebral disk degeneration, Join...	OMIM:613795
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Recurrent otitis media, Microcytic anemia, Splenomegaly, Membranoproliferat...	OMIM:619525
Senior-Boichis Syndrome	Ascites, Hepatosplenomegaly, Portal hypertension, Hypertension	ORPHA:84081
Diffuse Cutaneous Systemic Sclerosis	Flexion contracture, Osteolysis, Arthritis	ORPHA:220393
Hereditary Xanthinuria	Rheumatoid arthritis, Gout, Arthropathy	ORPHA:3467
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Contracture of the proximal interphalangeal joint of the 3rd finger, ...	OMIM:618223
Fraser Syndrome 3	Ascites, Oligohydramnios, Nonimmune hydrops fetalis	OMIM:617667
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Doors Syndrome	Sagittal craniosynostosis, Thrombocytosis	ORPHA:79500
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis	ORPHA:761
Vici Syndrome	Decreased circulating IgG level, Joint stiffness, Decreased circulating IgG2 level	ORPHA:1493
Noonan Syndrome	Osteopenia, Juvenile myelomonocytic leukemia, Abnormality of the spleen, Joint hypermobility, Rad...	ORPHA:648
Polymyositis	Chondrocalcinosis, Arthritis, Pericarditis	ORPHA:732
Dent Disease	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex	ORPHA:1652
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Ascites, Polyhydramnios, Congestive heart failure	OMIM:617156
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Cutis Marmorata Telangiectatica Congenita	Ascites, Telangiectasia of the skin, Subcutaneous hemorrhage, Purpura	ORPHA:1556
Hypermobile Ehlers-Danlos Syndrome	Limitation of joint mobility, Elbow dislocation, Joint dislocation, Osteolysis, Abnormality of th...	ORPHA:285
22Q11.2 Deletion Syndrome	Multiple suture craniosynostosis, Impaired T cell function, Splenomegaly, Joint hypermobility, Hy...	ORPHA:567
Ppoma	Hepatomegaly, Gastrointestinal hemorrhage, Abnormal abdomen morphology, Ascites	ORPHA:97278
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Joint stiffness, Abnormal hemoglobin, Anemia, Flexion contracture	ORPHA:847
Perlman Syndrome	Ascites, Visceromegaly, Polyhydramnios, Edema	OMIM:267000
Juvenile Dermatomyositis	Limitation of joint mobility, Skin rash, Myositis, Arthritis, Pruritus, Pericarditis	ORPHA:93672
Blau Syndrome	Posterior uveitis, Keratitis, Limitation of joint mobility, Polyarticular arthritis, Camptodactyl...	ORPHA:90340
Hellp Syndrome	Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Prolonged...	ORPHA:244242
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Elbow flexion contracture, Transient hypogammaglobulinemia of in...	ORPHA:3132
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Hyperbilirubinemia	OMIM:613070
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Eosinophilia, Elevated circulating C-reactive protein concentrat...	ORPHA:449563
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Ascites, Hepatosplenomegaly, Oligohydramnios, Hypersplenism, Splenom...	ORPHA:731
Behçet Disease	Recurrent aphthous stomatitis, Splenomegaly, Infectious encephalitis, Increased inflammatory resp...	ORPHA:117
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Osteopenia, Limited elbow extension, Neutropenia, Laryngotracheo...	OMIM:271510
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Hypoplasia of the thymus, Periorbital edema, Ascites	OMIM:613177
Secondary Non-Traumatic Avascular Necrosis	Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus	ORPHA:399180
Hyperuricemia, Hprt-Related	Podagra	OMIM:300323
Congenital Tufting Enteropathy	Punctate keratitis, Arthritis	ORPHA:92050
X-Linked Hypophosphatemia	Limitation of joint mobility, Rickets, Sacroiliac joint synovitis, Genu valgum, Generalized osteo...	ORPHA:89936
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Seborrheic dermatitis, Eczematoid dermatitis	ORPHA:369950
Fumarase Deficiency	Ascites, Polyhydramnios	OMIM:606812
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
Mitchell-Riley Syndrome	Ascites	OMIM:615710
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, Agammaglobulinemia	ORPHA:935
Somatostatinoma	Hepatomegaly, Gastrointestinal hemorrhage, Abnormal abdomen morphology, Ascites	ORPHA:97283
Scleromyxedema	Paraproteinemia, Dysphagia, Elevated circulating creatine kinase concentration	ORPHA:167635
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elbow flexion contracture, Knee flexion contracture, Hip contracture, Seborrheic dermatitis, Meto...	OMIM:300868
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Abnormality of T cell physiology, Splenomegaly...	OMIM:181000
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Mosaic Variegated Aneuploidy Syndrome	Ascites, Aortic regurgitation, Increased nuchal translucency, Polyhydramnios	ORPHA:1052
Somatomammotropinoma	Joint swelling, Osteoarthritis	ORPHA:314769
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Frequent temper tantrums, Recur...	OMIM:617062
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis	ORPHA:276280
Plague	Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Splenomegaly, Enteroc...	ORPHA:707
Argininemia	Hyperammonemia, Hyperargininemia, Hyperactivity, Anorexia, Reduced erythrocyte arginase activity	OMIM:207800
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Pancytopenia, Sp...	OMIM:614576
Digeorge Syndrome	Recurrent pneumonia, Impaired T cell function, Recurrent otitis media, Intervertebral disk degene...	OMIM:188400
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis	ORPHA:2483
Common Variable Immunodeficiency	Lymphopenia, Decreased circulating antibody level, Splenomegaly, Autoimmune thrombocytopenia, Hem...	ORPHA:1572
Glucagonoma	Hepatomegaly, Gastrointestinal hemorrhage, Abnormal abdomen morphology, Ascites	ORPHA:97280
Uremic Pruritus	Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections	ORPHA:94059
Glycogen Storage Disease Ib	Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Neutropenia, Osteoporosis	OMIM:232220
Immunodeficiency 56	Panhypogammaglobulinemia	OMIM:615207
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Gout	ORPHA:79233
Glycogen Storage Disease Ic	Inflammation of the large intestine, Cyclic neutropenia, Gout, Chronic pancreatitis, Stomatitis	OMIM:232240
Encephalitis Lethargica	Stiff neck, Increased circulating antibody level	ORPHA:83600
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatine kinase concen...	OMIM:606002
Interstitial Cystitis	Abnormality of tumor necrosis factor secretion	ORPHA:37202
Giant Cell Arteritis	Joint stiffness, Arthritis, Pericarditis	ORPHA:397
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatomegaly, Ascites	OMIM:256810
Infection-Related Hemolytic Uremic Syndrome	Abnormal circulating chemokine concentration, Brain abscess, Severe viral infection, Leukocytosis...	ORPHA:544482
Marshall Syndrome	Recurrent otitis media, Knee osteoarthritis	OMIM:154780
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, Motor stereotypy, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Pseudohypoparathyroidism Type 1A	Ectopic ossification, Conjunctivitis, Abnormal platelet function, Reduced bone mineral density, I...	ORPHA:79443
Vipoma	Hepatomegaly, Abnormal abdomen morphology, Dehydration, Ascites	ORPHA:97282
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatomegaly, Anasarca, Ascites	OMIM:203700
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Osteopenia, Inflammation of the large intestine, Periodont...	ORPHA:79259
Niemann-Pick Disease Type C	Fetal ascites, Ascites, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Hydrops fetalis	ORPHA:646
Rajab Interstitial Lung Disease With Brain Calcifications 1	Ascites, Oligohydramnios, Portal hypertension, Anasarca	OMIM:613658
Mannosidosis, Alpha B, Lysosomal	Vacuolated lymphocytes, Decreased circulating antibody level, Splenomegaly	OMIM:248500
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Pancytopenia, Splenomegaly, Decreased circulating IgA level, Hypersplenism	OMIM:613385
Cowden Syndrome 1	Lymphopenia, Decreased circulating antibody level	OMIM:158350
Viss Syndrome	Increased circulating IgE level, Decreased circulating IgA level, Hypereosinophilia, Generalized ...	OMIM:619472
Generalized Arterial Calcification Of Infancy	Ascites, Left ventricular systolic dysfunction, Transient ischemic attack, Polyhydramnios, Retina...	ORPHA:51608
Dysbetalipoproteinemia	Acute pancreatitis, Gout	ORPHA:412
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chilblains, Multiple joint contractures...	ORPHA:51
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Cutaneous abscess, Increased circulating IgE level, Recurrent fractures, Joint hyperm...	OMIM:147060
Glycogen Storage Disease Ia	Osteoporosis, Pancreatitis, Gout	OMIM:232200
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Dermatomyositis	Abnormal eosinophil morphology, Chondrocalcinosis, Heliotrope rash, Skin rash, Myositis, Arthriti...	ORPHA:221
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aortic regurgitation, Generalized edema, Bidirectional shunt, Ascites, Tricuspid regurgitation, P...	OMIM:619534
Whim Syndrome	Abnormal neutrophil morphology, Lymphopenia, Decreased circulating antibody level, Neutropenia	ORPHA:51636
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Arthritis	OMIM:161700
Oculocerebrorenal Syndrome Of Lowe	Periodontitis, Osteomalacia, Joint stiffness, Genu valgum, Recurrent fractures, Joint swelling, J...	ORPHA:534
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Periodontitis, Joint dislocation, Joint hypermobility, Osteoarthritis...	ORPHA:286
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Eczematoid dermatitis, Erythroderma, Recurrent skin infections, Hip dislocation	OMIM:308205
Liver Disease, Severe Congenital	Ascites, Splenomegaly, Pulmonary edema, Hepatomegaly, Abnormal left ventricular function, Systoli...	OMIM:619991
Multiple Osteochondromas	Limitation of joint mobility, Talipes valgus, Limited hip movement, Genu valgum, Femoroacetabular...	ORPHA:321
Cysticercosis	Stiff neck, Increased anti-parasite IgE antibody level, Increased circulating antibody level	ORPHA:1560
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconjunctivitis sicca,...	ORPHA:79128
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Trichinellosis	Increased circulating IgE level, Dysphagia	ORPHA:863
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Arthritis, Joint hypermobility	ORPHA:93111
Hereditary Sensory And Autonomic Neuropathy Type 4	Abnormality of the ankle, Painless fractures due to injury, Fasciitis, Osteomyelitis, Abnormality...	ORPHA:642
Cartilage-Hair Hypoplasia	Anemia, Decreased circulating antibody level, Neutropenia	ORPHA:175
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Chronic Graft Versus Host Disease	Ascites, Xerostomia, Pleural effusion	ORPHA:99921
Mucopolysaccharidosis Type 2, Severe Form	Limitation of joint mobility, Camptodactyly of finger, Hepatosplenomegaly, Splenomegaly, Arthriti...	ORPHA:217085
Simpson-Golabi-Behmel Syndrome	Hypoglycemia, Polysplenia, Increased circulating IgE level, Camptodactyly of finger, Splenomegaly...	ORPHA:373
Fabry Disease	Anemia, Reduced bone mineral density, Arthritis	ORPHA:324
Alström Syndrome	Chronic kidney disease, Detrusor sphincter dyssynergia, Recurrent pneumonia, Functional abnormali...	ORPHA:64
Mucopolysaccharidosis Type 2, Attenuated Form	Limitation of joint mobility, Camptodactyly of finger, Hepatosplenomegaly, Splenomegaly, Arthriti...	ORPHA:217093
Phosphoribosylpyrophosphate Synthetase Superactivity	Gout	OMIM:300661
Superficial Siderosis	Subarachnoid hemorrhage, Persistent bleeding after trauma, Abnormal bleeding, Internal hemorrhage	ORPHA:247245
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Decreased circulating antibody level	ORPHA:79396
Johanson-Blizzard Syndrome	Generalized edema, Dilated cardiomyopathy, Anasarca, Ascites, Portal hypertension, Splenomegaly, ...	OMIM:243800
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Sarcoidosis	Leukopenia, Hypercalcemia, Bone cyst, Increased T cell count, Eosinophilia, Thrombocytopenia, Ane...	ORPHA:797
Gitelman Syndrome	Chondrocalcinosis, Gout, Hashimoto thyroiditis, Iron deficiency anemia, Tubulointerstitial nephritis	ORPHA:358
Tetrasomy 9P	Joint dislocation, Glue ear, Myositis, Arthritis, Pericarditis	ORPHA:3310
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Anemia, Hepatosplenomegaly, Decreased circulating antibody level	ORPHA:247598
Aspartylglucosaminuria	Splenomegaly, Joint stiffness, Chronic otitis media, Arthritis	ORPHA:93
Choreoacanthocytosis	Abnormal erythrocyte enzyme concentration or activity, Acanthocytosis, Splenomegaly, Arthritis	ORPHA:2388
Lacrimoauriculodentodigital Syndrome	Keratoconjunctivitis, Keratoconjunctivitis sicca, Arthritis	ORPHA:2363
Renal Cysts And Diabetes Syndrome	Gout	OMIM:137920
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Hyperextensibility at elbow, Secretory IgA deficiency, Joint hyp...	ORPHA:500150
Tuberous Sclerosis Complex	Hypertension, Pulmonary lymphangiomyomatosis, Internal hemorrhage	ORPHA:805
Noonan Syndrome 1	Synovitis, Cubitus valgus, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia	OMIM:163950
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Camptodactyly of finger, Recurrent otitis media, Joint hypermobility, Synovitis, Wide...	ORPHA:3455
Sponastrime Dysplasia	Decreased circulating antibody level, Neutropenia	ORPHA:93357
Familial Cold Autoinflammatory Syndrome 3	Allergic rhinitis, Recurrent otitis media, Pruritus, Hashimoto thyroiditis	OMIM:614468
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Asplenia, Decreased circulating antibody level	ORPHA:261537
Mowat-Wilson Syndrome	Asplenia, Decreased circulating antibody level	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Decreased circulating antibody level	ORPHA:261552

Histopathology

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

There is no histopathology data for Plcg2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Plcg2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Plcg2^{em1(IMPC)Wtsi}	PMC7263671

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Plcg2^{em1(IMPC)Wtsi}	Deletion	Mice
Plcg2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Plcg2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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