Gene: Pdcd1 MGI:104879

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

programmed cell death 1

Synonyms:

Pdc1, PD-1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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 Pdcd1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Pdcd1 (2 diseases)
Human diseases predicted to be associated with Pdcd1 (1502 diseases)

The table below shows human diseases associated to Pdcd1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Systemic Lupus Erythematosus		Discoid lupus rash, Malar rash, Hematuria, Proteinuria, Lupus nephritis, Arthritis, Cheilitis, Py...	ORPHA:536
Multiple Sclerosis, Susceptibility To		Urinary incontinence, Urinary hesitancy	OMIM:126200

The table below shows human diseases predicted to be associated to Pdcd1 by phenotypic similarity.

Disease	Matching phenotypes	Source
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem...	OMIM:618982
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c...	OMIM:615615
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic ane...	OMIM:601859
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph...	ORPHA:169154
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm...	OMIM:617514
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Osteoarthritis Susceptibility 3	Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ...	OMIM:607850
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl...	ORPHA:567544
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Reduced delayed hypersensitivity, Hepatomegaly, Chronic noninfectious lym...	OMIM:603909
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno...	OMIM:607271
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Glycoprotein Storage Disease	Gout	OMIM:232900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy	OMIM:118600
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant...	OMIM:617609
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom...	OMIM:614470
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA...	OMIM:618048
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent...	OMIM:619846
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep...	OMIM:615285
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp...	OMIM:612783
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Immunodeficiency With Hyper-Igm, Type 1	Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r...	OMIM:308230
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints	ORPHA:50809
Chondrocalcinosis 1	Chondrocalcinosis, Osteoarthritis	OMIM:600668
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade...	ORPHA:100024
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga...	OMIM:612692
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ...	OMIM:300400
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M...	OMIM:619281
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level, Recurrent respiratory infections	OMIM:137050
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Hypopla...	OMIM:617241
Immunodeficiency 27A	Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, ...	OMIM:209950
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Immunodeficiency 48	Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation...	OMIM:269840
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly...	OMIM:618495
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Nephro...	OMIM:617006
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level...	ORPHA:98813
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph...	OMIM:613779
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Kimura Disease	Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Ethanolaminosis	Cardiomegaly	OMIM:227150
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Kienbock Disease	Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis	ORPHA:97332
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti...	ORPHA:563991
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease...	OMIM:615767
C1Q Deficiency 1	Membranoproliferative glomerulonephritis	OMIM:613652
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i...	OMIM:613501
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat...	OMIM:300310
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly, Chronic si...	ORPHA:397596
Angel-Shaped Phalangoepiphyseal Dysplasia	Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib...	OMIM:105835
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Actinic Prurigo	Pyoderma, Cheilitis, Glomerulonephritis	OMIM:174770
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating IgA level, He...	OMIM:617388
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Interstitial Lung Disease 2	Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Cirr...	OMIM:178500
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp...	OMIM:617099
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Cernunnos-Xlf Deficiency	Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin...	ORPHA:169079
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig...	OMIM:618394
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:331206
Tetralogy Of Fallot	Tetralogy of Fallot, Proptosis	OMIM:187500
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Pulmonary arter...	ORPHA:422
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Gout, Renal insufficiency, Renal tu...	OMIM:162000
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Crescentic glomerulonephritis, Arthritis	OMIM:616414
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Absence of lymph node germinal center, Lack of T cell function, ...	ORPHA:277
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	ORPHA:276
Systemic Lupus Erythematosus 16	Lupus nephritis	OMIM:614420
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the elbow, Limitation...	ORPHA:2619
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:209004
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Iga Pemphigus	Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous...	ORPHA:555905
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes...	OMIM:208250
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport...	OMIM:300853
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Nephrotic Syndrome, Type 24	Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic...	OMIM:619263
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Recurrent respiratory infections	OMIM:137100
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis, Joint hypermobility	ORPHA:2172
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Bullous Impetigo	Pustule, Glomerulopathy, Septic arthritis, Recurrent bacterial skin infections	ORPHA:36237
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko...	OMIM:267500
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl...	ORPHA:2585
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Schnitzler Syndrome	Splenomegaly, Skin rash, Arthritis, Hepatomegaly, Increased circulating IgM level	ORPHA:37748
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hepat...	ORPHA:169160
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Mueller-Weiss Syndrome	Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Limitation of movement at...	ORPHA:566943
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Anemia, Reduced natural killer cell activity, Granulocytopenia	OMIM:608898
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt...	OMIM:616100
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombocytosis,...	OMIM:615934
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os...	ORPHA:1416
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Lymp...	OMIM:613101
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hepatitis, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anemia, Splenomega...	OMIM:620565
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil...	OMIM:617638
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc...	OMIM:618920
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Complement Component 4A Deficiency	Glomerulonephritis	OMIM:614380
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Progressive joint destruction, Joint stiffness, Chondritis, Osteochondros...	ORPHA:564003
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA level, L...	OMIM:260920
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp...	OMIM:620632
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Systemic Lupus Erythematosus	Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis	OMIM:152700
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger	ORPHA:1937
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni...	OMIM:618986
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Abdominal adhesions, Neutropenia	OMIM:616395
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ...	OMIM:610984
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo...	OMIM:231100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula...	OMIM:602450
Lipodystrophy, Partial, Acquired, Susceptibility To	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:608709
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepatomegaly, Eosinophili...	OMIM:226990
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig...	ORPHA:83313
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Immunodeficiency 35	Increased circulating IgE level, Recurrent respiratory infections	OMIM:611521
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Tetralogy Of Fallot	Tetralogy of Fallot, Proptosis	ORPHA:3303
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,...	ORPHA:85435
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ...	ORPHA:329918
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Congenital Disorder Of Glycosylation, Type Iir	Micronodular cirrhosis, Ascites, Hepatic steatosis, Decreased proportion of CD4-positive T cells,...	OMIM:301045
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c...	OMIM:620210
Medullary cystic kidney disease 2	Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corti...	OMIM:603860
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Cholestasis, Ascites, Tr...	ORPHA:615
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology...	ORPHA:3092
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Left bundle branch block, Hepatomegaly, Ventricular f...	OMIM:115197
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pneumon...	ORPHA:436159
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody...	OMIM:618116
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, T lymphocytopenia, Panhypogammaglobulinemia	OMIM:601457
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
Multiple Myeloma	Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG...	ORPHA:29073
Osteoarthritis With Mild Chondrodysplasia	Knee osteoarthritis, Hip osteoarthritis, Joint stiffness, Heberden's node	OMIM:604864
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemi...	ORPHA:444463
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Peritonitis, Increased circulating IgA level, Arthritis, Hepatomegaly	ORPHA:343
Tempi Syndrome	Ascites, Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly	ORPHA:33402
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Arthritis	OMIM:617772
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Hepatic artery hyperplasia, Ascites, Tricuspid regurgitation, Portal ...	OMIM:619433
Leishmaniasis	Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant...	ORPHA:507
Dracunculiasis	Limitation of joint mobility, Skin rash, Arthritis, Flexion contracture, Recurrent cutaneous absc...	ORPHA:231
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Absen...	ORPHA:35078
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega...	OMIM:620603
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ...	OMIM:301000
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly, Decreased...	OMIM:300635
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly	OMIM:607685
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Cirrhotic Cardiomyopathy	Congestive heart failure, Ascites, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary...	ORPHA:57777
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Decreased circulating IgA level, Chronic bronchitis, Sinusitis, Increased circulating ...	OMIM:242860
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616910
Idiopathic Pulmonary Hemosiderosis	Antineutrophil antibody positivity, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly...	ORPHA:99931
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:616730
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Viral hepatitis, Paraproteinemia, Reduced cir...	ORPHA:91139
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Increas...	ORPHA:90003
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Proptosis, Abnormal cardiac septum morphology	ORPHA:2370
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Arthri...	ORPHA:411536
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ...	OMIM:612782
Immunodeficiency 22	Decreased circulating IgG level, Ascites, Decreased circulating IgA level, Decreased proportion o...	OMIM:615758
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:620532
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Asc...	OMIM:615122
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Limitation of joint mobility, Joint stiffness, Genu valgum, Abno...	ORPHA:93308
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat...	OMIM:617744
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Multicentric Reticulohistiocytosis	Arthritis	ORPHA:139436
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Arthritis	OMIM:177900
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut...	OMIM:618282
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage...	ORPHA:567548
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils, Decreased circu...	ORPHA:33355
Acquired Partial Lipodystrophy	Decreased circulating complement C3 concentration, Hepatic steatosis, Lymphocytosis	ORPHA:79087
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Inflammation of the large intestine, Elevated circulating hepatic tran...	ORPHA:562639
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Left bundle branch block, Ventricular tachycardia, First degree atrioventricular block, Right ven...	OMIM:615616
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Limited hip movement	ORPHA:86820
Mucopolysaccharidosis, Type Ix	Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Wrist hypermobility, Periarti...	OMIM:601492
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Deeply set eye, Cardiomegaly, Pulmonary ...	OMIM:619064
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Cranio-Osteoarthropathy	Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Arthritis, Abnormality of...	ORPHA:1525
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis	ORPHA:2206
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Cardiomegaly, Ve...	OMIM:600649
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA...	OMIM:102700
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Systemic Lupus Erythematosus, Susceptibility To, 6	Malar rash, Abnormality of the kidney, Arthritis, Pericarditis, Abnormal renal physiology	OMIM:609939
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Congestive...	OMIM:614096
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elbow flexion contracture, Knee flexion contracture, Arthritis, Colitis, Sterile arthritis, Cysti...	OMIM:604416
Autoinflammatory-Pancytopenia Syndrome	Chilblains, Intestinal inflammation, Arthropathy, Proteinuria, Membranoproliferative glomerulonep...	OMIM:619858
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Neph...	OMIM:104200
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Lesch-Nyhan Syndrome	Hematuria, Gout, Renal insufficiency	ORPHA:510
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Epiphyseal Dysplasia, Multiple, 3	Delayed epiphyseal ossification, Abnormal hip joint morphology, Limited elbow extension, Limited ...	OMIM:600969
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Gout, Renal insufficiency, ...	OMIM:618061
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased response ...	OMIM:615577
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymph...	ORPHA:90362
Paget Disease Of Bone 6	Nephrocalcinosis, Recurrent fractures, Osteoarthritis	OMIM:616833
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Portal hypertension, Splenomegal...	ORPHA:186
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ...	OMIM:600802
Zika Virus Disease	Myelitis, Skin rash, Infectious encephalitis, Arthritis, Conjunctivitis, Maculopapular exanthema,...	ORPHA:448237
Beukes Hip Dysplasia	Shallow acetabular fossae, Osteoarthritis	OMIM:142669
Eosinophilopenia	Decreased eosinophil count, Autoimmunity	OMIM:131430
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Non-Syndromic Bicoronal Craniosynostosis	Proptosis, Hypertelorism	ORPHA:35099
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Tularemia	Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph...	ORPHA:3392
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ...	OMIM:243700
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Abnormalit...	ORPHA:2114
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Eosinophilia	OMIM:618523
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges...	OMIM:613313
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia...	OMIM:275350
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Decreased specifi...	OMIM:614700
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
Chilblain Lupus	Chronic myelomonocytic leukemia, Increased circulating antibody level	ORPHA:90280
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Immunodeficiency With Hyper-Igm, Type 4	Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Absence of lymph node germin...	OMIM:608184
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Limitation of joint mobility, Arthritis	ORPHA:2582
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Congestive heart failure, Elevated circulating aspartate aminotransferas...	OMIM:619048
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Frontoocular Syndrome	Hypotelorism, Proptosis, Atrial septal defect, Pulmonic stenosis	OMIM:605321
Glycogen Storage Disease Iii	Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio...	OMIM:232400
Papa Syndrome	Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,...	ORPHA:69126
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Cirrh...	OMIM:602390
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Joint hypermobility, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, H...	OMIM:619428
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Ventricula...	OMIM:614876
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD3-pos...	ORPHA:275
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Autoimmune Hepatitis	Viral hepatitis, Ascites, Splenomegaly, Sclerosing cholangitis, Increased circulating antibody le...	ORPHA:2137
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Immunodeficiency 23	Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu...	OMIM:615816
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio...	OMIM:620135
Developmental And Epileptic Encephalopathy 75	Proptosis, Cardiomyopathy, Decreased liver function, Hypertelorism, Prolonged neonatal jaundice	OMIM:618437
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Gout, Renal cyst	OMIM:617056
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level	OMIM:615190
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Recurrent pneumonia, Bronchiectasis, Septic arthritis, Recurrent...	OMIM:300755
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Cardiomyopathy, Hypertelorism	OMIM:608540
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep...	ORPHA:3162
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Colonic eosinophilia	OMIM:618999
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:615573
Vertical Talus, Congenital	Arthritis	OMIM:192950
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Atrioventricular block, Complete heart block with narrow ...	ORPHA:1677
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis...	OMIM:209920
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Elevated circulating aspar...	OMIM:212140
Familial Isolated Restrictive Cardiomyopathy	Abnormal left ventricular function, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral ...	ORPHA:75249
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys...	ORPHA:99103
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis	ORPHA:93283
Spondylosis, Cervical	Osteoarthritis	OMIM:184300
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure...	OMIM:235200
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis	OMIM:615872
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Elevated circula...	OMIM:620609
Propionic Acidemia	Hepatomegaly, Arrhythmia, Cardiomyopathy	ORPHA:35
Immunoglobulin Kappa Light Chain Deficiency	Absent circulating immunoglobulin kappa chain	OMIM:614102
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Acetabular spurs, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephrit...	OMIM:614376
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge...	OMIM:130060
Igg4-Related Submandibular Gland Disease	Abnormal pancreas morphology, Increased circulating IgE level, Reduced circulating complement con...	ORPHA:449432
Combined Immunodeficiency Due To Zap70 Deficiency	Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Abnormal lymph node mor...	ORPHA:911
Autism Spectrum Disorder Due To Auts2 Deficiency	Abnormal heart morphology, Proptosis, Atrial septal defect, Hypertelorism	ORPHA:352490
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,...	OMIM:619424
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level	ORPHA:411593
Infantile Sialic Acid Storage Disease	Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly	OMIM:269920
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Increased circulating interleukin 6 concentration, Cholestasis, Decreased circu...	OMIM:620376
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Scleri...	ORPHA:93126
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Recurrent pneumonia, Pustule, Recurrent bronchiolitis	OMIM:616069
Mulibrey Nanism	Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction, Hypertelorism, Hepatom...	OMIM:253250
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t...	ORPHA:48435
Atrial Septal Defect, Coronary Sinus Type	Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio...	ORPHA:99104
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se...	OMIM:618652
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Antineutrophil antibody positivity, Proptosis, Hepatitis, Acute hepatic failure, Hepatosplenomega...	ORPHA:228426
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis	OMIM:619248
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Ascites, Tricuspid regurgitation, Splenomegaly, Pulmonary arterial hype...	ORPHA:2414
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome...	ORPHA:1304
Anti-Glomerular Basement Membrane Disease	Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis	ORPHA:375
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Hereditary Xanthinuria	Decreased urinary urate, Rheumatoid arthritis, Acute kidney injury, Recurrent urinary tract infec...	ORPHA:3467
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Immunodeficiency, Common Variable, 12, With Autoimmunity	Decreased circulating antibody level, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis	OMIM:231530
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia...	OMIM:304790
Immunodeficiency 56	Recurrent pneumonia, Hepatic failure, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent...	OMIM:615207
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly	OMIM:607624
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility	OMIM:130020
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Elevated circulating hepatic trans...	ORPHA:400
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Prolidase Deficiency	Proptosis, Systemic lupus erythematosus, Elevated circulating aspartate aminotransferase concentr...	OMIM:170100
Cherubism	Proptosis	ORPHA:184
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Aicardi-Goutieres Syndrome 6	Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia, Hepatomegal...	OMIM:615010
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:270150
Congenital Pseudoarthrosis Of The Clavicle	Osteoarthritis	ORPHA:66630
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Biliary cirrhosis, Leukopenia, Enlarged ...	ORPHA:2298
Sydenham Chorea	Septic arthritis, Endocarditis	ORPHA:306731
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, B lymphocytopenia, Dec...	OMIM:601495
Pseudoachondroplasia	Delayed epiphyseal ossification, Irregular acetabular roof, Joint stiffness, Genu valgum, Increas...	ORPHA:750
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Osteochondritis dissecans, Premature osteoarthritis	OMIM:165800
Progressive Osseous Heteroplasia	Ectopic ossification in muscle tissue, Limitation of joint mobility, Osteoarthritis	ORPHA:2762
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Juvenile Nasopharyngeal Angiofibroma	Epistaxis, Proptosis	ORPHA:289596
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Uric acid nephrolithi...	ORPHA:411543
Epidermodysplasia Verruciformis, Susceptibility To, 5	Squamous cell carcinoma of the skin, Lymphopenia, T lymphocytopenia, Verrucae	OMIM:618309
Immunodeficiency 17	Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit...	OMIM:615607
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu...	OMIM:300972
Lassa Fever	Conjunctivitis, Jaundice, Increased circulating IgM level	ORPHA:99824
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Increased circulating IgG4 level, A...	ORPHA:79078
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hepatomega...	OMIM:618234
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o...	ORPHA:85408
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Hyperuricemia, Hprt-Related	Hyperuricosuria, Renal insufficiency, Podagra, Nephrolithiasis	OMIM:300323
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Hepatic necrosis, Interstitial pneumonitis, Cirrhosis, Pulmonary fib...	OMIM:127550
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis	OMIM:618985
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Proptosis, Sinus tachycardia, Congestive...	ORPHA:525731
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent pneumonia, Eczematoid dermatitis, Reduced delayed hypersensitivity, Pyoderma, Hepatospl...	OMIM:242700
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced ...	OMIM:616050
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Autosomal Dominant Spastic Paraplegia Type 36	Urinary incontinence, Urinary urgency, Arthritis	ORPHA:320365
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Oligoarticular Juvenile Idiopathic Arthritis	Rheumatoid arthritis, Abnormality of the ankle, Joint hypermobility, Knee osteoarthritis, Oligoar...	ORPHA:85410
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphadenopathy, T...	OMIM:617591
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381

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