Gene Summary

Name:
phospholipase C, gamma 2
Synonyms:
PLCgamma2,  Plcg-2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased T cell number Plcg2Ali14 HET Early adult 1.35×10-08
increased IgM level Plcg2Ali14 HET   Early adult 8.87×10-06
decreased bone mineral density Plcg2Ali14 HET Early adult 1.06×10-09
decreased erythrocyte cell number Plcg2Ali14 HET Early adult 4.30×10-05
thrombocytosis Plcg2Ali14 HET Early adult 3.12×10-06
decreased circulating cholesterol level Plcg2Ali14 HET Early adult 2.82×10-11
increased IgG1 level Plcg2Ali14 HET Early adult 3.25×10-15
decreased hematocrit Plcg2Ali14 HET Early adult 1.04×10-05
decreased circulating free fatty acids level Plcg2Ali14 HET Early adult 7.50×10-07
decreased hemoglobin content Plcg2Ali14 HET Early adult 1.40×10-06
abnormal glucose homeostasis Plcg2Ali14 HET Early adult 5.94×10-05
decreased mature B cell number Plcg2Ali14 HET Early adult 7.70×10-08
decreased IgG3 level Plcg2Ali14 HET   Early adult 3.13×10-05
decreased circulating triglyceride level Plcg2Ali14 HET Early adult 5.97×10-05
hyperactivity Plcg2Ali14 HET Early adult 8.63×10-05
increased IgG2b level Plcg2Ali14 HET Early adult 2.48×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

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

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

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

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