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 |
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Premature osteoarthritis |
OMIM:184840 |
Poems Syndrome |
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Increased circulating antibody level, Sclerosis of skull base, Sclerosis of foot bone, Polycythem... |
ORPHA:2905 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
OMIM:251190 |
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities |
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Hepatosplenomegaly, Ascites |
OMIM:600461 |
Chronic Myeloid Leukemia |
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Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
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Osteoarthritis |
ORPHA:166100 |
Chilblain Lupus |
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Pruritis on hand, Discoid lupus rash, Inflammatory abnormality of the skin, Increased circulating... |
ORPHA:90280 |
Immunodeficiency 13 |
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Lymphopenia, B lymphocytopenia, T lymphocytopenia, Recurrent sinusitis, Decreased proportion of C... |
OMIM:615518 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Decreased circulating IgA level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:614878 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
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Joint hypermobility, Recurrent skin infections, Eczema, Atopic dermatitis, Eosinophilia, Chronic ... |
OMIM:618282 |
Epiphyseal Dysplasia, Multiple, 2 |
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Genu varum, Osteochondritis dissecans, Flattened knee epiphyses, Knee osteoarthritis |
OMIM:600204 |
Nephrotic Syndrome, Type 17 |
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Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... |
OMIM:618176 |
Portal Hypertension, Noncirrhotic, 2 |
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Petechiae, Hepatomegaly, Splenomegaly, Ecchymosis, Portal hypertension, Ascites, Epistaxis |
OMIM:619463 |
Sitosterolemia 1 |
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Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Arthritis, Impaired platelet aggregatio... |
OMIM:210250 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
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Decreased circulating total IgM |
OMIM:615139 |
Hemophilia B |
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Joint hemorrhage, Osteoarthritis |
OMIM:306900 |
Progressive Pseudorheumatoid Dysplasia |
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Joint swelling, Joint stiffness, Joint contracture of the hand, Osteoarthritis, Camptodactyly of ... |
OMIM:208230 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... |
OMIM:243150 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
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Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Bleeding Disorder, Platelet-Type, 17 |
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Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
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Erythroderma |
OMIM:133200 |
Tempi Syndrome |
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Polycythemia, Increased circulating IgG level, Increased hematocrit |
ORPHA:284227 |
Alpha-Heavy Chain Disease |
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Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:100025 |
Focal Segmental Glomerulosclerosis 2 |
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Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... |
OMIM:603965 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Neutrophi... |
OMIM:617099 |
Bleeding Disorder, Platelet-Type, 8 |
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Impaired ADP-induced platelet aggregation |
OMIM:609821 |
Primary Myelofibrosis |
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Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytosis, Poi... |
ORPHA:824 |
Immunodeficiency 76 |
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Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia |
OMIM:619164 |
Thalassemia, Beta+, Silent Allele |
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Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Nephrosialidosis |
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Ascites, Pericardial effusion |
OMIM:256150 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
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Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
Hyperbilirubinemia, Shunt, Primary |
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Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Nephrotic Syndrome, Type 11 |
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Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
Familial Cold Autoinflammatory Syndrome 2 |
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Skin rash, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis, Erythema nodosum |
OMIM:611762 |
Epidermolytic Hyperkeratosis |
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Erythroderma |
OMIM:113800 |
Transcobalamin Ii Deficiency |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:275350 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Glucose intolerance, Hyperlipidemia, Gout, Osteoporosis, Impaired glucose tolerance, Hypertriglyc... |
OMIM:610947 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased proportion of naive T cells, Decreased circulating IgA level, Decreased lymphocyte prol... |
ORPHA:276 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Defective T cell proliferation, Leukocytosis, Hypochromic anemia, Increased circulating IgG level... |
OMIM:618213 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
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Persistence of hemoglobin F |
OMIM:141749 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
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Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Erythroderma Desquamativum |
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Seborrheic dermatitis |
ORPHA:314 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Osteoarthritis, Synostosis of carpal bones, Osteoporosis, Genu valgum, Abnormal joint morphology,... |
ORPHA:93351 |
Hemochromatosis, Type 4 |
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Anemia, Osteoarthritis |
OMIM:606069 |
Chylous Ascites |
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Lymphedema, Ascites |
ORPHA:1160 |
Nephrotic Syndrome, Type 21 |
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Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... |
OMIM:618594 |
Hypobetalipoproteinemia, Familial, 1 |
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Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc... |
OMIM:615558 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Lymphopenia, ... |
OMIM:600802 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... |
ORPHA:35078 |
Hemophilia A With Vascular Abnormality |
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Joint hemorrhage, Osteoarthritis |
OMIM:306800 |
Insulin-Resistance Syndrome Type B |
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Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Hyperglycemia, Abnor... |
ORPHA:2298 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Autoimmune Lymphoproliferative Syndrome |
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Abnormal proportion of CD8-positive T cells, Gastritis, Uveitis, Bone marrow hypocellularity, Ret... |
ORPHA:3261 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev... |
OMIM:242860 |
Isolated Agammaglobulinemia |
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Sinusitis, Skin rash, Otitis media, Abnormal lymphocyte morphology, Arthritis, Abnormality of neu... |
ORPHA:229717 |
Galloway-Mowat Syndrome 2, X-Linked |
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Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... |
OMIM:301006 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Abnormal urine output, Diffuse mesangial sclerosis, Peritonitis, Abnormal glomerular visceral epi... |
ORPHA:567548 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Leukocytosis, Limitation of movement at ankles, Increased circulating IgG level, Limited elbow fl... |
ORPHA:206594 |
Erythema Nodosum, Familial |
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Erythema nodosum |
OMIM:132990 |
Agammaglobulinemia 1, Autosomal Recessive |
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Recurrent otitis media, B lymphocytopenia, Panhypogammaglobulinemia, Recurrent sinusitis, Decreas... |
OMIM:601495 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Osteoarthritis, Genu valgum, Limited elbow extension, Capitate-hamate fusion |
OMIM:271650 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
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Conjunctivitis, Arthritis |
OMIM:617772 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
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Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral edema, Hydrops fetalis, Abn... |
ORPHA:69735 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... |
OMIM:300291 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
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Keratitis, Joint contracture of the hand, Craniosynostosis, Eczema, Eosinophilia, Arthropathy, Re... |
OMIM:618523 |
Zika Virus Disease |
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Thrombocytopenia, Increased circulating IgM level, Arthritis |
ORPHA:448237 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Skin ... |
ORPHA:275 |
Alport Syndrome 3, Autosomal Dominant |
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Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... |
OMIM:104200 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
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Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... |
OMIM:243700 |
Familial Hemophagocytic Lymphohistiocytosis |
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Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Multiple Epiphyseal Dysplasia Type 5 |
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Joint stiffness, Decreased hip abduction, Osteoarthritis of the small joints of the hand, Delayed... |
ORPHA:93311 |
Congenital Disorder Of Glycosylation, Type Ia |
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Decreased circulating IgA level, Decreased circulating IgG level, Flexion contracture, Steatorrhe... |
OMIM:212065 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
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Decreased circulating antibody level |
ORPHA:2572 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased specific anti-polysaccharide antibody level, Splenomegaly, Mediastinal lymphadenopathy,... |
OMIM:300853 |
Netherton Syndrome |
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Decreased circulating IgG level, Allergic rhinitis, Hypereosinophilia, Erythroderma, Increased ci... |
OMIM:256500 |
Immunodeficiency 23 |
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Neutropenia, Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Hemolytic anemi... |
OMIM:615816 |
Panniculitis-Induced Localized Lipodystrophy |
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Inflammatory abnormality of the skin, Abnormal immunoglobulin level |
ORPHA:90159 |
Splenoportal Vascular Anomalies |
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Ascites, Splenomegaly |
OMIM:271500 |
Multiple Epiphyseal Dysplasia, Beighton Type |
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Joint stiffness, Osteoarthritis, Abnormal hip joint morphology, Abnormal acetabulum morphology, G... |
ORPHA:166011 |
Sézary Syndrome |
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Splenomegaly, Abnormal immunoglobulin level, Pruritus, Erythroderma, Abnormal lymphocyte morphology |
ORPHA:3162 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
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Mesangial hypercellularity, Crescentic glomerulonephritis, Arthritis |
OMIM:616414 |
Hemoglobin E Disease |
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Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Autosomal Agammaglobulinemia |
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Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Chronic otitis media, Arthritis, ... |
ORPHA:33110 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
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Recurrent fractures, Eczematoid dermatitis, Skin rash, Craniosynostosis, Osteopenia, Eosinophilia... |
OMIM:147060 |
Dengue Fever |
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Petechiae, Hepatomegaly, Cerebral hemorrhage, Bruising susceptibility, Hypotension, Gingival blee... |
ORPHA:99828 |
Mgat2-Cdg |
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Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Osteo... |
ORPHA:79329 |
Immunodeficiency 46 |
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Chronic oral candidiasis, Sepsis, Meningitis, Intermittent thrombocytopenia, Decreased circulatin... |
OMIM:616740 |
Mucopolysaccharidosis, Type Ix |
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Periarticular soft-tissue mass, Finger joint hypermobility, Chondrocalcinosis, Popliteal synovial... |
OMIM:601492 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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B lymphocytopenia, Decreased specific antibody response to vaccination, Uveitis, Pneumonia, Pancy... |
OMIM:614700 |
Immunodeficiency 58 |
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Colitis, Eczema, Chronic otitis media, Decreased specific antibody response to vaccination, Aller... |
OMIM:618131 |
Immunodeficiency 91 And Hyperinflammation |
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Nephrotic syndrome, Neutrophilia, Hemophagocytosis, Maculopapular exanthema, Hepatosplenomegaly, ... |
OMIM:619644 |
Focal Segmental Glomerulosclerosis 5 |
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Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Ulnar Hemimelia |
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Abnormality of the humeroulnar joint, Carpal synostosis, Dislocated radial head, Contracture of t... |
ORPHA:93320 |
Klippel-Trénaunay Syndrome |
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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 |
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Lymphopenia, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, H... |
OMIM:615688 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
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Polyhydramnios, Oligohydramnios, Ascites, Splenomegaly |
ORPHA:1046 |
Simple Cryoglobulinemia |
|
Nephrotic syndrome, Viral hepatitis, Nephritis, Mesangial hypercellularity, Abnormality of the ki... |
ORPHA:91139 |
Whim Syndrome 1 |
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Decreased circulating antibody level, Decreased circulating IgG level, Neutropenia |
OMIM:193670 |
Osteopetrosis, Autosomal Recessive 7 |
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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 |
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Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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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 |
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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 |