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Gene: Zap70 MGI:99613

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

zeta-chain (TCR) associated protein kinase

Synonyms:

TZK, ZAP-70, Srk

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 Zap70 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 Zap70 (3 diseases)
Human diseases predicted to be associated with Zap70 (1287 diseases)

The table below shows human diseases associated to Zap70 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco...	ORPHA:911
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Autoimmunity, ...	OMIM:617006

The table below shows human diseases predicted to be associated to Zap70 by phenotypic similarity.

Disease	Matching phenotypes	Source
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy	OMIM:118600
Chondrocalcinosis 1	Chondrocalcinosis, Osteoarthritis	OMIM:600668
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Glycoprotein Storage Disease	Gout	OMIM:232900
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Osteoarthritis Susceptibility 3	Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ...	OMIM:607850
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c...	OMIM:614493
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
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p...	ORPHA:331235
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul...	OMIM:619924
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent aphthous stomatitis, Autoimmunity, Decreased circulati...	ORPHA:275
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Macrophage Activation Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:158061
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease...	OMIM:615767
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Abnormal circulating interleukin concentration, Limitation of joint mobility, Polyart...	ORPHA:85435
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
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints	ORPHA:50809
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Skin rash, Autoimmune hemolyt...	ORPHA:100026
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy...	OMIM:617241
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Hypopituitarism, Recurrent otitis media, Increased circulati...	ORPHA:98813
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos...	OMIM:618534
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Joint swelling, Splenomegaly, Lipogranulomatosis, Osteoly...	OMIM:228000
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Systemic-Onset Juvenile Idiopathic Arthritis	Autoimmunity, Pleural effusion, Skin rash, Joint swelling, Splenomegaly, Hepatomegaly, Lymphadeno...	ORPHA:85414
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:603909
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Abnormality of humoral immunity, Absen...	ORPHA:277
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Autoimmunity, Decreased circulating ant...	ORPHA:397596
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni...	OMIM:607944
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ...	OMIM:300400
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Autoimmune Polyendocrinopathy Type 4	Rheumatoid arthritis, Xerostomia, Antiphospholipid antibody positivity, Iridocyclitis, Tubulointe...	ORPHA:227990
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade...	ORPHA:100024
Thymoma	Rheumatoid arthritis, Aplastic anemia, Anti-acetylcholine receptor antibody positivity, Systemic ...	ORPHA:99867
Angel-Shaped Phalangoepiphyseal Dysplasia	Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib...	OMIM:105835
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat...	OMIM:617514
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Recurrent upper respiratory tract infe...	ORPHA:169154
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps...	ORPHA:183675
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Kienbock Disease	Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis	ORPHA:97332
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Joint swelling, Skin rash, Increased proportion of CD4-positive T cells, Increased ...	OMIM:617099
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Antiphospholipid antibody positi...	ORPHA:227982
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	OMIM:619802
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent...	OMIM:619846
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Majeed Syndrome	Inflammatory abnormality of the skin, Delayed skeletal maturation, Microcytic anemia, Osteomyelit...	OMIM:609628
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve...	OMIM:607271
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ...	OMIM:607594
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ...	OMIM:618987
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni...	OMIM:601457
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Mixed Connective Tissue Disease	Xerostomia, Hepatomegaly, Myositis, Lymphadenopathy, Arthritis, Mediastinal lymphadenopathy, Hemo...	ORPHA:809
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid arthritis, Abnormality of the ankle, I...	ORPHA:85410
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Autoimmune Lymphoproliferative Syndrome	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:601859
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Hepatitis, Interstitial pneumonitis, Skin rash, Joint ...	ORPHA:829
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Overlap Myositis	Rheumatoid arthritis, Systemic lupus erythematosus, Subluxation of the small joints of the hand, ...	ORPHA:206572
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o...	ORPHA:85408
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func...	OMIM:240500
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti...	ORPHA:563991
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit...	OMIM:608971
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Autoimmune Lymphoproliferative Syndrome	Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea...	ORPHA:3261
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re...	OMIM:619220
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ...	ORPHA:48377
Secondary Non-Traumatic Avascular Necrosis	Rheumatoid arthritis, Limitation of joint mobility, Systemic lupus erythematosus, Autoimmunity, A...	ORPHA:399180
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Osteomalacia, Recurrent otitis media, Follicular ...	OMIM:619381
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Cernunnos-Xlf Deficiency	Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin...	ORPHA:169079
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ...	ORPHA:589
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity, Autoimmune hemolytic anemia, Splen...	OMIM:618495
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr...	OMIM:301082
Schnitzler Syndrome	Leukocytosis, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increase...	ORPHA:37748
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco...	ORPHA:911
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Osteomyelitis, Skin rash, Joint swelling, Abscess, Pustule, Splenomegaly...	OMIM:612852
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Immunodeficiency 27A	Pneumonia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Sple...	OMIM:209950
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes...	OMIM:208250
Osteochondritis Dissecans	Limitation of joint mobility, Limited elbow flexion, Abnormal joint morphology, Joint stiffness, ...	ORPHA:2764
Panner Disease	Limited elbow extension, Joint swelling, Abnormality of upper limb joint, Limited elbow movement,...	ORPHA:97336
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Wilson Disease	Hepatitis, Pathologic fracture, Joint swelling, Splenomegaly, Hepatic steatosis, Hepatomegaly, An...	ORPHA:905
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Autoi...	ORPHA:444463
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Pachydermoperiostosis	Neoplasm of the lung, Limitation of joint mobility, Eczematoid dermatitis, Osteolysis, Osteomyeli...	ORPHA:2796
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco...	OMIM:618048
Congenital Atransferrinemia	Arthritis	ORPHA:1195
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the elbow, Limitation...	ORPHA:2619
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre...	OMIM:616005
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Autoimmunity, Splenomegaly, Follicular hyperplasia, Increased circulating antibody ...	OMIM:614470
Rheumatoid Arthritis	Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo...	OMIM:180300
Spondyloenchondrodysplasia	Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Decreased response to growth hormo...	ORPHA:1855
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Isolated Agammaglobulinemia	Pneumonia, Recurrent respiratory infections, Abnormal lymphocyte morphology, Autoimmunity, Otitis...	ORPHA:229717
Tenosynovial Giant Cell Tumor	Chondrocalcinosis, Limitation of joint mobility, Abnormality of the ankle, Lymphedema, Localized ...	ORPHA:66627
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os...	ORPHA:1416
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Joint dislocation, Lymphopenia, Joint stiffness, Leukopenia, Spl...	OMIM:620210
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Felty Syndrome	Limitation of joint mobility, Abnormal joint morphology, Synovitis, Neutropenia, Recurrent pharyn...	ORPHA:47612
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Cranio-Osteoarthropathy	Eczematoid dermatitis, Joint stiffness, Abnormal cortical bone morphology, Joint swelling, Osteoa...	ORPHA:1525
Lymphoid Interstitial Pneumonia	Mediastinal lymphadenopathy, Rheumatoid arthritis, Eczematoid dermatitis, Subpleural interstitial...	ORPHA:79128
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Limitation of joint mobility, Lymphopenia, Abnormal pleura morphology, Eosinophilia, Arthritis	ORPHA:2582
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Farber Disease	Hepatic fibrosis, Recurrent upper respiratory tract infections, Atelectasis, Ascites, Abnormality...	ORPHA:333
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Osteoarthritis	ORPHA:435804
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Partial absence ...	OMIM:620430
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega...	OMIM:620603
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Delayed skeletal maturation, Recurren...	OMIM:615468
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E...	OMIM:620532
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Joint contracture of the hand, Bronchiectasis, Keratitis, Eczematoid dermatitis, Recurrent otitis...	OMIM:618523
Immunodeficiency 17	Abnormal B cell morphology, Eczematoid dermatitis, Recurrent otitis media, Chronic decreased circ...	OMIM:615607
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Progressive Pseudorheumatoid Dysplasia	Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Enlarged interphalangeal...	OMIM:208230
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga...	OMIM:612692
Symptomatic Form Of Hfe-Related Hemochromatosis	Joint stiffness, Portal hypertension, Joint swelling, Splenomegaly, Arthropathy, Cirrhosis, Hypot...	ORPHA:465508
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Severe Hemophilia A	Limitation of joint mobility, Progressive joint destruction, Joint swelling, Synovitis, Anemia, L...	ORPHA:169802
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ...	OMIM:617780
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal...	ORPHA:276
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Extractable nuclear antigen ...	OMIM:620321
Intermittent Hydrarthrosis	Abnormality of the knee, Chondrocalcinosis, Joint swelling, Knee joint hypermobility	ORPHA:329967
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, Hy...	OMIM:619313
Mueller-Weiss Syndrome	Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Limitation of movement at...	ORPHA:566943
Sinding-Larsen-Johansson Disease	Painless fractures due to injury, Joint swelling, Osteochondrosis, Limitation of knee mobility, K...	ORPHA:97337
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati...	ORPHA:169160
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Autoimmunity, ...	OMIM:617006
Hemophilia A	Joint hemorrhage, Splenic rupture, Joint swelling, Abnormality of the elbow	ORPHA:98878
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Lymphadenopathy,...	ORPHA:98848
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Polyar...	OMIM:619281
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody positivity, Lup...	OMIM:620376
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu...	OMIM:613501
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive	ORPHA:79099
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide...	ORPHA:70593
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp...	OMIM:620632
Gaucher Disease Type 1	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Cirrhosis,...	ORPHA:77259
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor...	ORPHA:331206
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti...	OMIM:608184
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c...	OMIM:304790
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Forsythe-Wakeling Syndrome	Osteoporosis, Delayed skeletal maturation, Thrombocytopenia	OMIM:613606
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Progressive joint destruction, Joint stiffness, Chondritis, Osteochondros...	ORPHA:564003
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Fibrodysplasia Ossificans Progressiva	Synostosis of joints, Limitation of joint mobility, Ectopic ossification in ligament tissue, Ecto...	ORPHA:337
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Antineutrophil antibody positivity, Rheumatoid arthritis, Systemic lupus eryth...	ORPHA:49041
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig...	OMIM:618394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ...	OMIM:600802
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger	ORPHA:1937
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Lower limb pain, Leukocytosis, Skin rash, Splenomegaly, Lymphadeno...	OMIM:611762
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Autoimmunity, Decreased circulat...	OMIM:613011
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Progressive Pseudorheumatoid Arthropathy Of Childhood	Joint contracture of the hand, Limitation of joint mobility, Wrist swelling, Irregular acetabular...	ORPHA:1159
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas...	OMIM:614069
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Chronic hepatitis, Erythrod...	ORPHA:3260
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Arthritis	OMIM:177900
Aggressive Systemic Mastocytosis	Pathologic fracture, Ascites, Increased proportion of CD25+ mast cells, Hepatosplenomegaly, Pancy...	ORPHA:98850
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Lymphopenia, Joint stiffness, Malar rash, Leukopenia, Skin rash, Thrombocytosis, C...	OMIM:615934
Sjogren Syndrome	Rheumatoid arthritis, Xerostomia, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ne...	OMIM:270150
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo...	ORPHA:93284
Immunodeficiency 42	Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi...	ORPHA:436159
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Osteoarthritis With Mild Chondrodysplasia	Knee osteoarthritis, Hip osteoarthritis, Joint stiffness, Heberden's node	OMIM:604864
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent otitis media, Increased circulating IgE level, Decreased proportion ...	OMIM:243700
Immunodeficiency 32B	Pneumonia, Neutrophilia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, ...	OMIM:226990
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Abnormal pulmonary interstitial m...	OMIM:613101
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Polyarticular arthritis, Exo...	OMIM:615952
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Arthritis	OMIM:617772
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ...	OMIM:308230
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Delayed skeletal maturation, Panhypogammaglobulinemia, Recurren...	OMIM:307200
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Recurrent lower respirat...	OMIM:300755
Immunodeficiency 68	Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ...	OMIM:612260
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD...	ORPHA:572
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Pleuritis, Antiphospholipid anti...	OMIM:152700
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level	OMIM:300310
Bullous Impetigo	Pustule, Septic arthritis, Recurrent bacterial skin infections	ORPHA:36237
X-Linked Agammaglobulinemia	Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Osteomyelitis, Autoimmunity, Skin rash,...	ORPHA:47
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612783
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Multicentric Reticulohistiocytosis	Histiocytosis, Arthritis	ORPHA:139436
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Skin rash, Splenomegaly, Increased circulating antibody level, Myositis, Hepatomegal...	OMIM:617591
Immunodeficiency 98 With Autoinflammation, X-Linked	Antineutrophil antibody positivity, Bone marrow hypocellularity, Decreased circulating IgG level,...	OMIM:301078
Ankylosing Vertebral Hyperostosis With Tylosis	Osteoarthritis	ORPHA:2206
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elbow flexion contracture, Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Knee flexion cont...	OMIM:604416
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Recurrent otitis media, Abnormal delayed hypersensitivity sk...	OMIM:301000
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Cinca Syndrome	Patellar overgrowth, Lymphedema, Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymph...	OMIM:607115
Dracunculiasis	Limitation of joint mobility, Skin rash, Arthritis, Flexion contracture, Recurrent cutaneous absc...	ORPHA:231
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia	OMIM:152800
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut...	OMIM:618282
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
Alpha-Heavy Chain Disease	Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Recurrent respiratory infections, Leukopenia, Skin rash, Anemia...	ORPHA:33355
Achalasia, Familial Esophageal	Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca	OMIM:200400
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Ne...	ORPHA:33110
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
Erdheim-Chester Disease	Abnormal pulmonary interstitial morphology, Osteomyelitis, Bone pain, Pleural effusion, Skin rash...	ORPHA:35687
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos...	OMIM:615758
Winchester Syndrome	Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy	OMIM:277950
Sialidosis Type 2	Ascites, Splenomegaly, Hepatomegaly, Osteoporosis, Flexion contracture, Hydrops fetalis, Pedal edema	ORPHA:87876
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Lyme Disease	Infectious encephalitis, Joint swelling, Arthritis, Uveitis	ORPHA:91546
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ...	OMIM:300635
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m...	ORPHA:90280
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Pulmonary hemorrhage, A...	ORPHA:79124
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Limitation of joint mobility, Joint stiffness, Genu valgum, Abno...	ORPHA:93308
Autoimmune Hepatitis	Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone...	ORPHA:2137
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
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Extensor Tendons Of Finger Anomalies	Osteoporosis, Limitation of joint mobility, Camptodactyly of finger	ORPHA:3294
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Osteoporosis, Thrombocytopenia, Joint hypermobility	OMIM:614727
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ...	OMIM:612782
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Ascites, Microcytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, ...	OMIM:257200
Hereditary Xanthinuria	Rheumatoid arthritis, Gout, Arthropathy	ORPHA:3467
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, ...	OMIM:615122
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Jaundice, Cirrhosis,...	ORPHA:79301
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Omenn Syndrome	Pneumonia, Thyroiditis, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly,...	ORPHA:39041
Chikungunya	Facial edema, Periostitis, Cervical lymphadenopathy, Joint stiffness, Skin rash, Maculopapular ex...	ORPHA:324625
Vertical Talus, Congenital	Arthritis	OMIM:192950
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Auto...	ORPHA:83471
Refractory Celiac Disease	Normocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, Abnormal spleen physi...	ORPHA:398063
Popliteal Cyst	Abnormality of the knee, Joint swelling	OMIM:175750
Autoinflammation With Arthritis And Dyskeratosis	Polyarticular arthritis, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Antinuclea...	OMIM:617388
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Lupus anticoagulant...	ORPHA:93552
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymp...	OMIM:618935
Blau Syndrome	Posterior uveitis, Limitation of joint mobility, Keratitis, Polyarticular arthritis, Camptodactyl...	ORPHA:90340
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, T lymphocytopenia,...	OMIM:242860
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Osteopenia, Antineutrophil antibody positivity, Periodontitis, Aplastic anemia, Lympho...	ORPHA:486
Sarcoidosis	Abnormal lymph node morphology, Abnormal pleura morphology, Erythema nodosum, Hepatomegaly, Tubul...	ORPHA:797
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis	ORPHA:2902
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Beukes Hip Dysplasia	Shallow acetabular fossae, Osteoarthritis	OMIM:142669
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Monosomy 22	Contractures of the large joints, Hepatosplenomegaly, Joint swelling, Aplasia of the thymus, Sebo...	ORPHA:96123
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Increased susceptibility to fr...	ORPHA:77297
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Common Variable Immunodeficiency	Pneumonia, Recurrent respiratory infections, Emphysema, Lymphopenia, Abnormality of the liver, De...	ORPHA:1572
Epiphyseal Dysplasia, Multiple, 3	Delayed epiphyseal ossification, Abnormal hip joint morphology, Limited elbow extension, Limited ...	OMIM:600969
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Recurrent pharyngitis, Hepatom...	ORPHA:42642
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo...	ORPHA:35078
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Recurrent upper respiratory...	OMIM:613179
Immunodeficiency 23	Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu...	OMIM:615816
Autosomal Dominant Dopa-Responsive Dystonia	Hypothyroidism, Rheumatoid arthritis, Progressive flexion contractures	ORPHA:98808
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Wormian bones, Joint hypermobility	ORPHA:2787
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo...	ORPHA:508533
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level	OMIM:616069
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Osteosarcoma	Pathologic fracture, Joint swelling, Osteolysis	ORPHA:668
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Delayed skeletal maturation, Splenomegaly, Arthr...	ORPHA:61
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis	OMIM:608805
Moderate Hemophilia A	Limitation of joint mobility, Joint swelling, Hip contracture, Arthropathy, Synovitis, Joint hemo...	ORPHA:169805
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Recurre...	OMIM:618116
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Skin rash, Splenomegaly, Hepatomegaly, Jaundice, Lymphadenopathy, Neutropenia, ...	OMIM:603552
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Decreased proportion of CD4-positive T cells, Bronchiectasis, Metopic synostosis	ORPHA:477814
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Lupus anticoagulant, Antiphospholipid a...	ORPHA:781
Systemic Sclerosis	Anti-centromere antibody positivity, Pulmonary fibrosis, Osteomyelitis, Joint swelling, Antinucle...	ORPHA:90291
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Abnormalit...	ORPHA:2114
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decrease...	OMIM:614878
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Spondylosis, Cervical	Osteoarthritis	OMIM:184300
Hemochromatosis, Type 3	Lymphopenia, Cirrhosis, Neutropenia, Arthritis, Anemia	OMIM:604250
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula...	OMIM:301081
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circulating inter...	ORPHA:391487
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level	OMIM:618985
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Fasciitis, Myositis, Muscular edema, Eosinophilia, Arthritis, Edema	ORPHA:3165
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Insulin Autoimmune Syndrome	Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth...	ORPHA:411593
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615269
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt...	OMIM:616576
Zika Virus Disease	Myelitis, Ankle swelling, Wrist swelling, Skin rash, Infectious encephalitis, Arthritis, Thromboc...	ORPHA:448237
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Skin rash, Lymphadenopathy, Thrombocytopenia, Increased cir...	ORPHA:83313
Sézary Syndrome	Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegaly, Abnormal immunoglobulin...	ORPHA:3162
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Abno...	ORPHA:2585
Albers-Schönberg Osteopetrosis	Mandibular osteomyelitis, Joint dislocation, Osteomyelitis, Genu valgum, Abnormal leukocyte morph...	ORPHA:53
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters...	OMIM:616433
Alkaptonuria	Joint dislocation, Joint stiffness, Hemolytic anemia, Black pigment gallstones, Increased suscept...	ORPHA:56
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome...	ORPHA:1304
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ...	OMIM:603554
Chromosome 15Q11.2 Deletion Syndrome	Juvenile rheumatoid arthritis, Joint contracture, Elbow contracture	OMIM:615656
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Hip contr...	ORPHA:353298
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Polyhydramnios, Osteoporosis, Recurrent aspiration pneumonia	OMIM:619971
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Skin rash, Splenomegaly, Serositis, Increased ci...	OMIM:260920
Immunodeficiency 46	Intermittent thrombocytopenia, Recurrent sinopulmonary infections, Neutropenia, Anemia, Conjuncti...	OMIM:616740
Papa Syndrome	Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Myositis, Pustule...	ORPHA:69126
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis	ORPHA:93283
Leishmaniasis	Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant...	ORPHA:507
Congenital Disorder Of Glycosylation, Type Iir	Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hepatome...	OMIM:301045
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat...	OMIM:620514
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia	OMIM:256500
Immunodeficiency 7	Recurrent otitis media, Hypereosinophilia, Autoimmunity, Autoimmune hemolytic anemia, Splenomegal...	OMIM:615387
Neonatal Alloimmune Neutropenia	Pneumonia, Antineutrophil antibody positivity, Jaundice, Neutropenia in presence of anti-neutropi...	ORPHA:464370
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion...	ORPHA:1163
Fusariosis	Pneumonia, Keratitis, Granuloma, Brain abscess, Fasciitis, Osteomyelitis, Abnormality of the sple...	ORPHA:228119
Subacute Inflammatory Demyelinating Polyneuropathy	Limited elbow flexion, Limited hip movement, Leukocytosis, Limitation of movement at ankles, Incr...	ORPHA:206594
Prieto Syndrome	Osteoporosis, Patellar subluxation, Cryptorchidism, Patellar dislocation	OMIM:309610
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology, Recurrent otitis media, Cryptorchidism, Agammaglobulinemia, Decreased...	OMIM:616910
Congenital Pseudoarthrosis Of The Clavicle	Osteoarthritis	ORPHA:66630
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Bone pain, Leukocytosis, Increased susceptibi...	ORPHA:98849
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Hip osteoarthritis	OMIM:619248
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Osteoporosis, Patellar subluxation, Cryptorchidism	ORPHA:2958
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Familial Cold Autoinflammatory Syndrome 1	Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis	OMIM:120100
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Familial Afibrinogenemia	Joint swelling	ORPHA:98880
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Anti-GAD65 antibody, Osteoporosis, Joint hypermobility	OMIM:616033
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Fractures of the long bones, Delayed skeletal maturation, Otitis media, Hyperhidrosis...	ORPHA:319195
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Synovitis, Glomerulonephritis, Arthritis, Serositis	ORPHA:567544
Classic Mycosis Fungoides	Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Lymphadenopathy, ...	ORPHA:2584
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Melioidosis	Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit...	ORPHA:31202
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu...	OMIM:127550
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Cinca Syndrome	Joint dislocation, Abnormality of neutrophils, Abnormal joint morphology, Leukocytosis, Splenomeg...	ORPHA:1451
Hemochromatosis, Type 1	Ascites, Pleural effusion, Splenomegaly, Arthropathy, Cirrhosis, Hepatomegaly, Osteoporosis, Test...	OMIM:235200
Blau Syndrome	Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Joint swelling...	OMIM:186580
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Cubitus valgus, Hypothyroidism, Lymph...	OMIM:619750
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
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Joint stiffness, Recurrent aphthous stomatiti...	ORPHA:29207
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge...	OMIM:130060
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Angioedema, Ascites, Reduced circulating complement concentration, Emphysema, ...	ORPHA:36412
Propionic Acidemia	Eczematoid dermatitis, Pancytopenia, Hepatomegaly, Pancreatitis, Neutropenia, Thrombocytopenia, A...	OMIM:606054
Paget Disease Of Bone 6	Recurrent fractures, Osteoarthritis	OMIM:616833
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Inflammation of the large intestine, Reduced natural kill...	OMIM:301074
Flynn-Aird Syndrome	Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral...	OMIM:136300
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,...	ORPHA:93351
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pancytopenia, Leukopenia, Neutrop...	OMIM:613989
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He...	ORPHA:39812
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ...	ORPHA:2686
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Eczematoid dermatitis, Atelectasis, Recurrent respiratory infections, Increased circu...	ORPHA:2314
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cel...	ORPHA:221139
Ehlers-Danlos Syndrome, Hypermobility Type	Joint dislocation, Osteoarthritis, Joint hypermobility	OMIM:130020
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Ascites, Polyarticular arth...	ORPHA:2848
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231226
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Periodontitis, Recurrent respiratory infections, Osteomalacia, Hyperaldoster...	ORPHA:534
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Immunodeficiency 66	Defective T cell proliferation	OMIM:618847
Acquired Partial Lipodystrophy	Decreased circulating complement C3 concentration, Autoimmunity, Hepatic steatosis, Lymphocytosis	ORPHA:79087
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocyt...	OMIM:620565
Osteoporosis	Osteoporosis	OMIM:166710
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Increased circulating interleukin 6 concentration, Hemophagocytosis, I...	ORPHA:540
Whim Syndrome	Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Atel...	ORPHA:51636
Isolated Glycerol Kinase Deficiency	Osteoporosis, Cryptorchidism	ORPHA:408
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Congenital pulmonary airway malformation, Lymphopenia, Psoriasiform dermatitis, Interface hepatit...	OMIM:243150
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Delayed skeletal maturation, Increased circulating gonadotro...	ORPHA:2410
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent ...	OMIM:601495
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Lupus anticoagulant, Eryth...	OMIM:615688
Progressive Osseous Heteroplasia	Ectopic ossification in muscle tissue, Limitation of joint mobility, Osteoarthritis	ORPHA:2762
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Lymphedema, Leukocytosis, Splenomegaly, Lymphadenopa...	ORPHA:3226
Immunodeficiency 54	Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo...	OMIM:609981
Catastrophic Antiphospholipid Syndrome	Anticardiolipin IgG antibody positivity, Microangiopathic hemolytic anemia, Systemic lupus erythe...	ORPHA:464343
Dyskeratosis Congenita, Autosomal Dominant 3	Osteopenia, Bone marrow hypocellularity, Aplastic anemia, Abnormal pulmonary interstitial morphol...	OMIM:613990
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Osteochondritis dissecans, Premature osteoarthritis	OMIM:165800
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Recurrent respiratory infect...	OMIM:618042
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu...	OMIM:616871
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe...	ORPHA:289390
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Anti-Glomerular Basement Membrane Disease	Anemia, Autoimmunity, Arthritis	ORPHA:375
Pseudoachondroplasia	Delayed epiphyseal ossification, Irregular acetabular roof, Joint stiffness, Genu valgum, Increas...	ORPHA:750
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Ascites, Autoimmunity, Portal hypertension, Splen...	ORPHA:186
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level, Lymphedema	ORPHA:1116
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Generalized edema, Peritoneal effusion, Intestinal lymphangiecta...	ORPHA:90362
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Osteoporosis, Hypothyroidism, Delayed skeletal maturation	OMIM:618625
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count, Autoimmunity	OMIM:131430
Sydenham Chorea	Septic arthritis, Endocarditis	ORPHA:306731
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma...	OMIM:106300
Immunodeficiency 31C	Osteopenia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Decreased lymphocyte prolif...	OMIM:614162
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Osteoporosis, Flexion contracture, Osteolysis	OMIM:228600
Systemic Lupus Erythematosus, Susceptibility To, 6	Malar rash, Arthritis, Pericarditis	OMIM:609939
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615271
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl...	OMIM:618849
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Increased circulating IgE level, Cryptorchidism, Osteoporosis, Recurrent...	ORPHA:3409
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Hemophagocytosis, Abnormal pulmonary interstitial morphology, Hepatosplenome...	OMIM:619644
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Recurrent pneumonia, Elbow flexion contracture, Cryptorchidism, Kn...	OMIM:214150
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Lymphedema, Intestinal lymphangiectasia, Pulmonary lymphangiectasia, Camptodactyly, Osteoporosis,...	OMIM:616006
Igg4-Related Submandibular Gland Disease	Facial edema, Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circu...	ORPHA:449432
Dysplasia Epiphysealis Hemimelica	Joint stiffness, Genu valgum, Recurrent fractures, Osteoarthritis, Tarsal synostosis, Genu varum	ORPHA:1822
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal proportio...	ORPHA:133
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Osteopenia, Reticular pattern on pulmonary HRCT, Aplastic anemia, Us...	OMIM:614742
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent skin infections, Abnormal leukocyte morpholo...	ORPHA:169105
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der...	ORPHA:324964
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler...	OMIM:166600
Melorheostosis	Increased bone mineral density, Joint stiffness, Ectopic ossification in muscle tissue, Arthritis	ORPHA:2485
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Hemochromatosis, Type 2A	Hepatomegaly, Cirrhosis, Splenomegaly, Arthritis	OMIM:602390
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the ankle, Genu valgum, Abnormality of the epiphyses of the elbow, Osteoarthritis,...	ORPHA:166002
Hjv Or Hamp-Related Hemochromatosis	Osteoporosis, Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Arthropathy	ORPHA:79230
Immunodeficiency 110 With Lymphoproliferation	Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia...	OMIM:614868
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Bone marrow hypocellularity, Autoimmunity, Leukocytosis	ORPHA:98827
Classic Galactosemia	Ascites, Cryptorchidism, Jaundice, Abnormal erythrocyte enzyme concentration or activity, Hepatom...	ORPHA:79239
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Skin rash, Splenomegaly, Lymphadenopathy, Hyperhidrosis, Hepatomegal...	ORPHA:391
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pterygium, Pancytopenia, Thromboc...	OMIM:224230
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Recurrent pneumonia, Decreased circulating IgA level, Splenomegaly, Hepatic steatosis...	OMIM:613327
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,...	ORPHA:54251
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Rigid Spine Syndrome	Pneumonia, Hamstring contractures, Elbow flexion contracture, Hip contracture	ORPHA:97244
Pneumocystosis	Interstitial pneumonitis, Pleural effusion, Increased circulating antibody level, Multiple pulmon...	ORPHA:723
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Joint hypermobility	ORPHA:63442
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level...	ORPHA:330015
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Rheumatoid factor positive, Viral hepatitis, ...	ORPHA:91139
Atelis Syndrome 1	Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Gl...	OMIM:620184
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos...	ORPHA:158057
Warburg-Cinotti Syndrome	Ankle flexion contracture, Elbow flexion contracture, Joint swelling, Wrist flexion contracture, ...	OMIM:618175
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Tafro Syndrome	Increased circulating interleukin 6 concentration, Anasarca, Ascites, Hepatosplenomegaly, Pleural...	ORPHA:457077
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Osteoarthritis	OMIM:614135
Sweet Syndrome	Inflammation of the large intestine, Abnormal circulating interleukin concentration, Increased ci...	ORPHA:3243
Mycetoma	Painless fractures due to injury, Pathologic fracture, Osteomyelitis, Abnormality of the lymphati...	ORPHA:2583
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Nephritis, Recurrent pneumonia, Recurrent respiratory infections, Le...	OMIM:617303
Acute Monoblastic/Monocytic Leukemia	Ankle swelling, Hypochromic anemia, Acute monocytic leukemia, Central hypothyroidism, Cervical ly...	ORPHA:514
Ataxia-Telangiectasia	Aplasia/Hypoplasia of the thymus, Lymphopenia, Polycystic ovaries, Abnormal testis morphology, Re...	ORPHA:100
Celiac Disease, Susceptibility To, 1	Rickets, Eczematoid dermatitis, Recurrent aphthous stomatitis, Decreased circulating IgA level, M...	OMIM:212750
Pseudoleprechaunism Syndrome, Patterson Type	Delayed skeletal maturation, Genu valgum, Delayed pubic bone ossification, Joint swelling, Flat a...	ORPHA:2976
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Muckle-Wells Syndrome	Camptodactyly of finger, Recurrent aphthous stomatitis, Episcleritis, Skin rash, Splenomegaly, He...	ORPHA:575
Glycogen Storage Disease Ib	Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Neutropenia, Pancreatic fi...	OMIM:232220
Diamond-Blackfan Anemia 7	Osteopenia, Increased mean corpuscular volume, Recurrent otitis media, Esophagitis, Macrocytic an...	OMIM:612562
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Antinuclear antibody positivity...	OMIM:616414
Epiphyseal Dysplasia, Multiple, 1	Delayed epiphyseal ossification, Hip osteoarthritis, Limited hip movement, Joint stiffness, Genu ...	OMIM:132400
Familial Hyperprolactinemia	Osteoporosis, Osteopenia, Hemorrhagic ovarian cyst	ORPHA:397685
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatic fibrosis, Portal fibrosis, Increased hepatic glycogen content, Cirrhosis, Hep...	ORPHA:369
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Osteopenia, He...	OMIM:617341
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Pterygium, Osteolysis involving tarsal bones, Increased susceptibi...	ORPHA:371428
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Inflammation of the large intestine, Granuloma, Cholestasis, Interface...	ORPHA:562639
Primary Sclerosing Cholangitis	Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Polyclonal elevati...	ORPHA:171
Dysspondyloenchondromatosis	Joint dislocation, Genu valgum, Generalized joint hypermobility, Osteoarthritis, Enlarged joints	ORPHA:85198
Warburg Micro Syndrome 1	Osteoporosis, Cryptorchidism, Joint hypermobility	OMIM:600118
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Osteoporosis	OMIM:233300
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Hip contracture...	OMIM:616651
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Splenomegaly, Joint hypermobility, Hepatomegaly, Decreased c...	OMIM:605309
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Systemic lupus erythematosus, Splenomegaly, Increased...	OMIM:170100
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Decreased circulating complement factor B concentration, Biliary cirrhosis,...	ORPHA:2298
Hemochromatosis, Type 4	Hepatic steatosis, Hepatomegaly, Cirrhosis, Osteoarthritis, Anemia	OMIM:606069
Vexas Syndrome	Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti...	OMIM:301054
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Increased circulating antibody level, Iridocyc...	OMIM:181000
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Hepatosplenomegaly, Increased circulating anti...	ORPHA:470
Lesch-Nyhan Syndrome	Anemia, Gout	ORPHA:510
Microlissencephaly	Pneumonia	ORPHA:1083
Psoriasis 14, Pustular	Polyarticular arthritis, Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutroph...	OMIM:614204
Congenital Syphilis	Pneumonia, Periostitis, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, P...	ORPHA:499009
Progressive Familial Intrahepatic Cholestasis	Delayed skeletal maturation, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Reduced bone mine...	ORPHA:172
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Increased circulating interleukin 6 concentration, Cervic...	OMIM:614034
Analbuminemia	Osteoporosis, Recurrent lower respiratory tract infections, Oligohydramnios, Edema	OMIM:616000
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anhidrosis, Hepatomegal...	ORPHA:169090
Morgagni-Stewart-Morel Syndrome	Hypothyroidism, Osteoarthritis, Osteoporosis, Acne, Hyperostosis frontalis interna	ORPHA:77296
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Pancytopenia, Abnormality of the liver, Macrocytic anemia, Neu...	ORPHA:2169
Coccidioidomycosis	Morbilliform rash, Abnormality of the spleen, Abscess, Erythema nodosum, Pleural empyema, Follicu...	ORPHA:228123
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Bruck Syndrome 1	Ankle flexion contracture, Pterygium, Elbow flexion contracture, Increased susceptibility to frac...	OMIM:259450
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Knee dislocation, Cryptorchidism, Generalized joint hypermobility, Cervical C2/C3 ver...	OMIM:618000
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Abnormal immunoglobulin level, Inflammatory abnormality of the skin	ORPHA:90159
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eos...	ORPHA:139402
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Hyperimmunoglobulinemia D With Periodic Fever	Limitation of joint mobility, Recurrent aphthous stomatitis, Peritonitis, Increased circulating I...	ORPHA:343
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Gout	OMIM:162000
Aicardi-Goutieres Syndrome 7	Pancytopenia, Chilblains, Hepatic steatosis, Increased circulating antibody level, Hepatomegaly, ...	OMIM:615846
Staphylococcal Necrotizing Pneumonia	Pneumonia, Leukopenia, Pleural effusion, Leukocytosis, Pneumothorax, Acute infectious pneumonia, ...	ORPHA:36238
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Wormian bones, Osteoporosis	ORPHA:2788
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, Recurrent aphthous stomatitis, B lymphocytopenia, Recurr...	OMIM:615966
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Ascites, Hepatosplenomegaly, Hemolytic anemia, Portal hypertension, Chilblains,...	OMIM:619487
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis	ORPHA:2786
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Patellar aplasia, Patellar disloc...	ORPHA:2614
Multiple Myeloma	Osteopenia, Pathologic fracture, Pleural effusion, Splenomegaly, Increased circulating IgA level,...	ORPHA:29073
Igg4-Related Kidney Disease	Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Increased circulating IgE level, ...	ORPHA:449395
Netherton Syndrome	Increased circulating IgE level, Decreased circulating antibody level	ORPHA:634
Epiphyseal Dysplasia, Multiple, 5	Premature osteoarthritis, Genu valgum, Delayed tarsal ossification, Delayed ossification of carpa...	OMIM:607078
Second Metatarsal-Metacarpal Syndrome	Synostosis of carpals/tarsals	OMIM:269630
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Osteoporosis, Finger joint contracture, Flexion contracture of toe	ORPHA:48431
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Eczematoid dermatitis, Arthropathy, Wormian bones, Oste...	OMIM:259100
Obesity Due To Congenital Leptin Deficiency	Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Decreased T cell ...	ORPHA:66628
Cryoglobulinemic Vasculitis	Abnormality of the liver, Splenomegaly, Cryoglobulinemia, Keratoconjunctivitis sicca, Circulating...	ORPHA:91138
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Osteoporosis, Macrovesicular hepatic steatosis	OMIM:618234
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Gout, Neutropenia	OMIM:617056
Slc35A1-Cdg	Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, N...	ORPHA:238459
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Myositis, Lymphadenopathy, Hepatomegaly, Flexion contr...	OMIM:619183
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Hypermobility of interphalangeal joints, Wormian bones, Osteoporosis, R...	OMIM:613849
Bloom Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent tonsillitis, Bronchitis, Decreased circulat...	ORPHA:125
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Joint stiffness, Osteoarthritis	ORPHA:1345
Odontochondrodysplasia 1	Genu recurvatum, Recurrent respiratory infections, Joint hypermobility, Osteoporosis, Flat acetab...	OMIM:184260
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia, Microcytic a...	ORPHA:906
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Recurrent otitis media, Hepatosplenomegaly, Hepatic steatosis, Hip contracture, Cryp...	OMIM:619503
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Myositis, Perito...	ORPHA:32960
Diffuse Alveolar Hemorrhage	Antineutrophil antibody positivity, Pulmonary fibrosis, Autoimmunity, Leukocytosis, Antiphospholi...	ORPHA:90060
Shwachman-Diamond Syndrome	Aplastic anemia, Abnormal joint morphology, Hypopituitarism, Pancytopenia, Impaired neutrophil ch...	ORPHA:811
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent upper respiratory tract infections, Decreased circulating total IgM, Recurrent lower re...	OMIM:615139
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Erythroderma, Lymphadenopathy...	ORPHA:79456
Systemic Lupus Erythematosus	Discoid lupus rash, Antineutrophil antibody positivity, Decreased circulating complement C3 conce...	ORPHA:536
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Gaucher Disease	Pancytopenia, Increased circulating antibody level, Cirrhosis, Polyclonal elevation of IgM, Hepat...	ORPHA:355
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pneumonia, Recurrent upper respiratory tract infections, Adrenocorticotropin deficient ...	ORPHA:293978
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Hypochondroplasia	Abnormality of the elbow, Genu varum, Osteoarthritis, Joint hypermobility	ORPHA:429
Desbuquois Dysplasia 1	Joint dislocation, Advanced tarsal ossification, Joint hypermobility, Phalangeal dislocation, Ost...	OMIM:251450
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Obesity Due To Leptin Receptor Gene Deficiency	Decreased testicular size, Decreased proportion of CD4-positive helper T cells, Decreased T cell ...	ORPHA:179494
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis...	OMIM:209920
Generalized Pustular Psoriasis	Lymphopenia, Leukocytosis, Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, ...	ORPHA:247353
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Abnormality of the testis size, Sp...	ORPHA:400
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Osteopenia, Decreased testicular size, Genu valgum, Cryptorchidism, Osteop...	OMIM:614880
Legionnaires Disease	Bone marrow hypocellularity, Abnormal lung morphology, Hepatitis, Lymphopenia, Abnormal pleura mo...	ORPHA:549
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Agammaglobulinemia, Anemia, Recurrent respiratory infections, Reduced bone mineral d...	ORPHA:935
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bone marrow hypocellularity, Pathologic fracture, Genu valgum, Increased susceptibili...	OMIM:612199
Bacterial Toxic-Shock Syndrome	Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Abscess, Infectious encephalitis, Myos...	ORPHA:36234
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Increased skull ossification	ORPHA:85179
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Colitis, Leukopenia, Decreased circulating antibody level	OMIM:615190
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Ankle flexion contracture, Carpal osteolysis, Interphalangeal joint contracture of fi...	OMIM:259600
Cranioectodermal Dysplasia	Osteoporosis, Craniosynostosis, Joint hypermobility	ORPHA:1515
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Rickets, Osteomalacia, Abnormal joint morphology, Joint stiffness,...	ORPHA:1901
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Delayed skeletal maturation, Leukopeni...	OMIM:222700
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Microcytic anemia, Multiple joint contractures, Hepatic steatosis, Generalized osteop...	ORPHA:2959
Shigellosis	Pneumonia, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, Leukocytosis, Absc...	ORPHA:810
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Arthri...	OMIM:210250
Lymphatic Filariasis	Predominantly lower limb lymphedema, Ankle swelling, Lymphadenitis, Lymphedema, Hypereosinophilia...	ORPHA:2035
Immunodeficiency 59 And Hypoglycemia	Recurrent upper respiratory tract infections, Arteritis, Acne inversa, Herpes simplex encephaliti...	OMIM:233600
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Osteopenia, Delayed skeletal maturation, Exocrine pancreatic insufficiency, Sk...	OMIM:612714
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Chronic bronchitis, Cirrhosis, Panacinar emphysema, Bronchiectasis, Hepatocellular ...	OMIM:613490
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Perrault Syndrome 1	Increased circulating gonadotropin level, Osteoporosis	OMIM:233400
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip osteoarthritis, Limited hip movement, Hip contracture, Abnormality of the knee, Hip subluxati...	ORPHA:99642
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Cervica...	OMIM:617718
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Poems Syndrome	Polycythemia, Increased circulating prolactin concentration, Sclerosis of foot bone, Ascites, Scl...	ORPHA:2905
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Bronchitis, Decreased circulatin...	ORPHA:420741
Neuropathy, Hereditary Sensory And Autonomic, Type V	Painless fractures due to injury, Osteomyelitis, Arthropathy, Osteoarthritis, Septic arthritis, R...	OMIM:608654
Hemophagocytic Lymphohistiocytosis, Familial, 2	Generalized edema, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Skin rash, Spl...	OMIM:603553
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233710
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Osteopenia, Inflammation of the large intestine, Periodont...	ORPHA:79259
Congenital Toxoplasmosis	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice	ORPHA:858
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Increased circulating IgA level, Tubulointerstitial nephritis, Increased circulating ...	ORPHA:79078
Multiple Epiphyseal Dysplasia Type 5	Premature osteoarthritis, Limited hip movement, Genu valgum, Joint stiffness, Intervertebral disk...	ORPHA:93311
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Cryptococcosis	Pneumonia, Systemic lupus erythematosus, Osteomyelitis, Autoimmunity, Pleural effusion, Nodular p...	ORPHA:1546
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Premature osteoarthritis	OMIM:184840
Purine Nucleoside Phosphorylase Deficiency	Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Autoimmune hemolytic anemia, Abnormal T ...	ORPHA:760
Cholestasis-Lymphedema Syndrome	Lymphedema, Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Abnormality of...	ORPHA:1414
Infantile Systemic Hyalinosis	Osteopenia, Aplasia/Hypoplasia of the thymus, Camptodactyly of finger, Osteomalacia, Lymphedema, ...	ORPHA:2176
Somatomammotropinoma	Pituitary adenoma, Increased circulating prolactin concentration, Pituitary prolactin cell adenom...	ORPHA:314769
Mevalonic Aciduria	Fluctuating splenomegaly, Morbilliform rash, Hepatosplenomegaly, Leukocytosis, Skin rash, Fluctua...	OMIM:610377
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Generalized edema, Abnormal circulating chemokine concentration, Brain abscess, Edema,...	ORPHA:544482
Dyskeratosis Congenita	Bone marrow hypocellularity, Blepharitis, Periodontitis, Coarse metaphyseal trabecularization, Re...	ORPHA:1775
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Atelect...	OMIM:306400
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Polysplenia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, ...	OMIM:615482
Takayasu Arteritis	Increased inflammatory response, Anemia, Hyperhidrosis, Arthritis, Inflammatory abnormality of th...	ORPHA:3287
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Hepatic cysts, Eosinophilia, Erythroderma, Dislocated radial head, Decreased circula...	OMIM:617425
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Avian Influenza	Pneumonia, Myelitis, Hepatitis, Lymphopenia, Leukopenia, Pleural effusion, Infectious encephaliti...	ORPHA:454836
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233690
Whipple Disease	Pedal edema, Pleuritis, Splenomegaly, Infectious encephalitis, Myositis, Hepatomegaly, Anemia, Hy...	ORPHA:3452
Periodic Fever, Familial, Autosomal Dominant	Erysipelas, Polyarticular arthritis, Hepatic amyloidosis, Cervical lymphadenopathy, Skin rash, My...	OMIM:142680
Acromegaly	Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma, Joint swelling, Elevated...	ORPHA:963
Combined Oxidative Phosphorylation Deficiency 53	Osteomyelitis, Hepatomegaly, Hypochromic microcytic anemia, Arthritis, Septic arthritis	OMIM:619423
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Facial edema, Hemophagocytosis, Pancytopenia, Autoimmunity, Splenomegaly, Anemia, Panniculitis	OMIM:618398
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, ...	OMIM:617321
Familial Mediterranean Fever	Erysipelas, Pleural effusion, Leukocytosis, Splenomegaly, Crohn's disease, Orchitis, Peritonitis,...	OMIM:249100
Wilson Disease	Chondrocalcinosis, Portal fibrosis, Edema, Osteomalacia, Ascites, Splenomegaly, Hepatic steatosis...	OMIM:277900
Bruck Syndrome	Pterygium, Joint stiffness, Wormian bones, Osteoporosis, Arthrogryposis multiplex congenita, Recu...	ORPHA:2771
Sarcoidosis, Susceptibility To, 2	Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Splenomegaly, Pneumothor...	OMIM:612387
Classical Ehlers-Danlos Syndrome	Osteopenia, Shoulder dislocation, Limb pain, Blepharochalasis, Joint swelling, Generalized joint ...	ORPHA:287
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Anemia, Oligoarthri...	ORPHA:31205
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Osteoarthritis	ORPHA:166100
Igg4-Related Ophthalmic Disease	Neoplasm of the lung, Keratitis, Increased circulating IgE level, Increased circulating IgG4 leve...	ORPHA:449563
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Cholelithiasis, Abnormal pulmonary interstitial morphology, Delayed skeletal maturati...	ORPHA:77293
Free Sialic Acid Storage Disease	Ascites, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Hydrops fetalis, Reduced b...	ORPHA:834
Sapho Syndrome	Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der...	ORPHA:793
Schimke Immunoosseous Dysplasia	Osteopenia, Shallow acetabular fossae, Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnor...	OMIM:242900
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia...	OMIM:275350
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Abnormality of tumor necrosis factor secretion, Abnormal ...	ORPHA:178320
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Th...	ORPHA:848
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Cholestasis, Splenomegaly, Hepatic steatosis, Polycystic ovari...	ORPHA:264580
Scedosporiosis	Pneumonia, Bronchitis, Osteomyelitis, Sinusitis, Arthralgia/arthritis, Septic arthritis, Pulmonar...	ORPHA:449280
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Erythroid hypoplasia, ...	OMIM:612541
Nasu-Hakola Disease	Acute leukemia, Limitation of joint mobility, Bone cyst, Reduced bone mineral density, Bone pain	ORPHA:2770
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Generalized edema, Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Hy...	OMIM:226300
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Joint contracture of the hand, Shoulder flexion contracture, Delayed ...	OMIM:255800
Mucopolysaccharidosis, Type Iva	Recurrent pneumonia, Recurrent upper respiratory tract infections, Ulnar deviation of the wrist, ...	OMIM:253000
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia	ORPHA:141152
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Increased circulating IgA level, Neutropenia, Bilateral cryptorchidism	OMIM:616395
American Trypanosomiasis	Periorbital edema, Skin rash, Splenomegaly, Infectious encephalitis, Hepatomegaly, Lymphadenopath...	ORPHA:3386
Gaucher Disease Type 3	Abnormal pulmonary interstitial morphology, Delayed skeletal maturation, Pancytopenia, Increased ...	ORPHA:77261
Alpha-Mannosidosis, Adult Form	Pneumonia, Osteopenia, Hepatosplenomegaly, Pancytopenia	ORPHA:309288
Secondary Intestinal Lymphangiectasia	Anasarca, Decreased circulating IgG1 level, Lymphedema, Secondary hyperaldosteronism, Lymphopenia...	ORPHA:90363
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Osteopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenome...	ORPHA:79277
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Recurrent pneumonia, Joint subluxation, Joint dislocation, Hip subluxation, Elbow fle...	ORPHA:1900
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Joint hypermobility, Wormian bones, Limitation of knee mobility, ...	OMIM:614856
Hall-Riggs Syndrome	Osteoporosis, Delayed skeletal maturation	OMIM:234250
Enthesitis-Related Juvenile Idiopathic Arthritis	Hip osteoarthritis, Abnormality of the ankle, Anterior uveitis, Sacroiliac arthritis, Abnormal hi...	ORPHA:85438
Hennekam Syndrome	Chylothorax, Erysipelas, Lymphedema, Camptodactyly of finger, Ascites, Lymphopenia, Splenomegaly,...	ORPHA:2136
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Splenomegaly, Polycystic ovaries, Hepatomegaly, Cirrhosis, Hepatocellular adeno...	ORPHA:79240
Kikuchi-Fujimoto Disease	Abnormal pulmonary interstitial morphology, Abnormal lymph node morphology, Cervical lymphadenopa...	ORPHA:50918
Hereditary Folate Malabsorption	Pancytopenia, Decreased circulating antibody level, Eosinophilia, Megaloblastic anemia, Thrombocy...	ORPHA:90045
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Bronchiectasis, Osteoarthritis, Joint hypermobility	OMIM:620080
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Decreased circu...	OMIM:300972
Functioning Gonadotropic Adenoma	Osteopenia, Pituitary gonadotropic cell adenoma, Delayed skeletal maturation, Decreased response ...	ORPHA:91348
Antisynthetase Syndrome	Joint dislocation, Xerostomia, Autoimmunity, Skin rash, Myositis, Keratoconjunctivitis sicca, Art...	ORPHA:81
Ramon Syndrome	Juvenile rheumatoid arthritis	OMIM:266270
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Anemia, Mediastinal lymphadenopath...	ORPHA:83469
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Allergic Bronchopulmonary Aspergillosis	Emphysema, Abnormal eosinophil morphology, Bronchiectasis	ORPHA:1164
Mesomelia-Synostoses Syndrome	Synostosis of joints, Abnormality of the ankle, Synostosis of carpal bones, Joint stiffness, Genu...	ORPHA:2496
Glycogen Storage Disease Vii	Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Reticulocytosis, ...	OMIM:232800
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h...	ORPHA:79126
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Icf Syndrome	Recurrent respiratory infections, Lymphopenia, Anemia, Abnormality of neutrophils, Decreased circ...	ORPHA:2268
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Macul...	ORPHA:319218
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Emphysema, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia...	OMIM:620365
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po...	OMIM:258900
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Recurrent otitis media, Microcytic anemia, Inc...	OMIM:256040
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Familial Mediterranean Fever	Erysipelas, Ascites, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, ...	ORPHA:342
Idiopathic Achalasia	Recurrent aspiration pneumonia, Bronchitis	ORPHA:930
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Recurrent upper respiratory tract infecti...	OMIM:618131
Eosinophilic Granulomatosis With Polyangiitis	Abnormal pleura morphology, Autoimmunity, Skin rash, Increased inflammatory response, Myositis, M...	ORPHA:183
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Limitation of joint mobility, Polyarticular arthritis, Abnormality of tumor necrosis fac...	ORPHA:85436
Listeriosis	Arteritis, Abscess, Pustule, Jaundice, Endocarditis, Osteomyelitis, Peritonitis, Hepatic granulom...	ORPHA:533
Spondyloepimetaphyseal Dysplasia, Irapa Type	Genu valgum, Limited elbow extension, Osteoarthritis, Capitate-hamate fusion	OMIM:271650
Familial Cold Urticaria	Conjunctivitis, Arthritis	ORPHA:47045
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Mirage Syndrome	Aspiration pneumonia, Radial club hand, Lymphopenia, Leukopenia, Adrenal insufficiency, Decreased...	OMIM:617053
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Contracture of...	OMIM:618223
Pseudopseudohypoparathyroidism	Osteoporosis, Pseudohypoparathyroidism	OMIM:612463
19P13.3 Microduplication Syndrome	Unilateral cryptorchidism, Osteoporosis, Hip subluxation, Hip dislocation	ORPHA:447980
Wild Type Abeta2M Amyloidosis	Arthritis, Arthropathy	ORPHA:85446
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Osteopenia, Erythroid hyperplasia, Splenomegaly, Nonimmune hydrops fetal...	ORPHA:95159
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Colitis, Keratoconjunctivitis sicca, Ir...	ORPHA:309031
Isolated Anencephaly	Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes	ORPHA:563609
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, ...	OMIM:615830
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Impaired T cell function, Cholestasis, Pan...	OMIM:614576
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent bronchitis, D...	OMIM:251260
Mitochondrial Complex I Deficiency, Nuclear Type 33	Oligohydramnios, Bronchiectasis, Neutropenia, Aspiration pneumonia	OMIM:618253
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Pterygium, Decreased testicular size, Pancytopenia, Leukopenia, Cryp...	OMIM:305000
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t...	ORPHA:48435
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Generalized osteoporosis, Osteopenia, Multiple joint dislocation, Delayed skeletal maturation, Kn...	OMIM:245600
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615267
Ulnar Hemimelia	Abnormality of the humeroulnar joint, Carpal synostosis, Limited elbow flexion, Elbow flexion con...	ORPHA:93320
Proximal Symphalangism	Synostosis of carpal bones, Elbow dislocation, Camptodactyly of finger, Abnormality of the wrist,...	ORPHA:3250
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Brain abscess, Intraalveolar phospholipid accumulation, Anti-granulocyte-macrophage co...	OMIM:610910
Bronchiolitis Obliterans	Pneumonia, Autoimmunity, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis	ORPHA:1303
Idiopathic Hypercalciuria	Osteoporosis, Osteopenia	ORPHA:2197
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Polysplenia, Otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent ...	OMIM:613807
Acute Generalized Exanthematous Pustulosis	Facial edema, Cholestasis, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, E...	ORPHA:293173
Pseudomyxoma Peritonei	Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Acute Promyelocytic Leukemia	Diffuse alveolar hemorrhage, Pancytopenia, Leukopenia, Leukocytosis, Lymphadenopathy, Neutropenia...	ORPHA:520
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal...	OMIM:620296
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteoporosis, Osteopenia	ORPHA:529665
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Joint stiffness, Genu valgum, Abnormal acetabulum morphology, Abnor...	ORPHA:166011
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Abnormal proportion of naive CD4 T cells, Impaired T cell function, ...	ORPHA:1830
Cantu Syndrome	Pericardial effusion, Osteoporosis, Delayed skeletal maturation, Lymphedema	OMIM:239850
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Osteoporosis	ORPHA:71267
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Le...	OMIM:603467
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615270
Multiple Synostoses Syndrome 2	Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr...	OMIM:610017
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Limitation of joint mobility, Hepatic steatosis, Pancreatitis, Osteoporosis, Generalized osteopor...	OMIM:236200
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
Rhabdoid Tumor	Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia	ORPHA:69077
Mucopolysaccharidosis, Type Ivb	Recurrent upper respiratory tract infections, Joint stiffness, Genu valgum, Joint hypermobility, ...	OMIM:253010
Adult Acute Respiratory Distress Syndrome	Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s...	ORPHA:70578
Familial Isolated Hyperparathyroidism	Osteopenia, Chondrocalcinosis, Parathyroid adenoma, Generalized osteoporosis, Primary hyperparath...	ORPHA:99879
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Osteoporosis, Rickets, Dehydration	OMIM:560000
Alveolar Echinococcosis	Pulmonary cyst, Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hyper...	ORPHA:284
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Eczematoid dermatitis, Patellar hypoplasia, Elbow flexion contra...	ORPHA:3132
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Decreased circulating IgG level, Recurrent pneumonia, Decrea...	OMIM:612301
Juvenile Paget Disease	Osteoporosis, Coarse metaphyseal trabecularization, Recurrent fractures, Cranial hyperostosis	ORPHA:2801
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Menkes Disease	Osteoporosis, Wormian bones, Joint hypermobility	OMIM:309400
Stickler Syndrome Type 1	Osteoarthritis, Joint hypermobility	ORPHA:90653
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus	ORPHA:40366
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple...	ORPHA:449427
Congenital Myopathy 22A, Classic	Knee contracture, Hip contracture, Achilles tendon contracture, Polyhydramnios, Osteoporosis, Con...	OMIM:620351
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Cryptorchidism, Hepatic steatosis, Joint contracture, Hepatomegaly, Osteoporosis	OMIM:615381
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Ovarian cyst, Pancrea...	OMIM:610475
Castleman Disease	Myelofibrosis, Increased circulating interleukin 6 concentration, Anasarca, Follicular hyperplasi...	ORPHA:160
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Asplenia, Chro...	OMIM:244400
Rhyns Syndrome	Osteopenia, Delayed skeletal maturation, Decreased response to growth hormone stimulation test, P...	OMIM:602152
Dermatoosteolysis, Kirghizian Type	Keratitis, Abnormality of the wrist, Osteoarthritis, Tarsal synostosis, Osteolysis	ORPHA:1657
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Genu valgum, Irregular tarsal ossification, Irregul...	OMIM:226980
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level	OMIM:615508
Werner Syndrome	Chondrocalcinosis, Joint stiffness, Pulmonary artery stenosis, Aplasia/Hypoplasia of the testes, ...	ORPHA:902
Bone Marrow Failure Syndrome 5	Delayed skeletal maturation, Erythroid hypoplasia, Pulmonary fibrosis, Anemia, Pure red cell apla...	OMIM:618165
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Chronic mucocutaneous candidiasis, Lymphopenia...	OMIM:242840
Geroderma Osteodysplasticum	Osteopenia, Periodontitis, Increased susceptibility to fractures, Wormian bones, Recurrent lower ...	OMIM:231070
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Gout	OMIM:618061
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis	OMIM:615872
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ...	ORPHA:158048
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Recurrent ...	OMIM:620233
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Lowry-Maclean Syndrome	Osteopenia, Widely patent coronal suture, Abnormality of the abdominal organs, Bilateral cryptorc...	ORPHA:2409
Igg4-Related Thyroid Disease	Graves disease, Anti-thyroglobulin antibody positivity, Euthyroid goiter, Goiter, Increased circu...	ORPHA:64744
Immunodeficiency 55	Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Lymphadenopathy, Neutropenia, Re...	OMIM:617827
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent pneumonia, Pulmonary cyst, Recurrent upper respiratory tract infections, Ec...	OMIM:147060
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Primary hyper...	OMIM:219080
Hajdu-Cheney Syndrome	Osteopenia, Periodontitis, Coarse metaphyseal trabecularization, Recurrent fractures, Splenomegal...	ORPHA:955
Estrogen Resistance Syndrome	Delayed epiphyseal ossification, Osteopenia, Breast hypoplasia, Enlarged polycystic ovaries, Mark...	ORPHA:785
Cushing Disease	Increased circulating cortisol level, Lymphopenia, Leukocytosis, Adrenal hyperplasia, Recurrent c...	ORPHA:96253
Spondylo-Ocular Syndrome	Osteoporosis, Joint hypermobility	ORPHA:85194
Perrault Syndrome 4	Increased circulating gonadotropin level, Osteoporosis, Hypoplasia of the ovary, Cubitus valgus	OMIM:615300
H Syndrome	Bronchiectasis, Delayed skeletal maturation, Osteolysis, Microcytic anemia, Decreased testicular ...	ORPHA:168569
Macs Syndrome	Recurrent aphthous stomatitis, Cryptorchidism, Joint hypermobility, Osteoporosis, Palpebral edema...	OMIM:613075
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Delayed skeletal maturation, Anterior hypopituitarism, Breas...	ORPHA:2235
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Decreased circulating IgG level, Recurrent respiratory infections, J...	ORPHA:505248
Hemophagocytic Lymphohistiocytosis, Familial, 1	Generalized edema, Hemophagocytosis, Leukopenia, Splenomegaly, Infectious encephalitis, Hepatomeg...	OMIM:267700
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal...	OMIM:214500
Tick-Borne Encephalitis	Myelitis, Stiff neck, Leukopenia, Limb pain, Leukocytosis, Abnormal circulating cytokine concentr...	ORPHA:297
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Leukemia, Pleural effusion, Splenomeg...	ORPHA:33226
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Osteomalacia, Hepatosplenomegaly, Genu valgum, Hypophosphatemic rickets, Osteoarthritis,...	OMIM:307800
Complement Factor I Deficiency	Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, Glomerulonephritis, Septic arthritis...	OMIM:610984
Werner Syndrome	Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density	OMIM:277700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Osteopenia, Delayed skeletal maturation, Ankle clonus, Metopic synos...	OMIM:615398
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Anticardiolipin IgG antibody positivity, Anasarca, Ascites, Lymphopenia, Decr...	OMIM:619573
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Hypothyroidism, Lymphadenopathy, Hepa...	ORPHA:99812
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis, Cryptorchidism, Decreased testicular size	OMIM:610628
Roifman-Chitayat Syndrome	Pneumonia, Osteopenia, Arthritis	OMIM:613328
Osteogenesis Imperfecta, Type Xxi	Osteoporosis, Wormian bones, Recurrent fractures, Joint hypermobility	OMIM:619131
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr...	ORPHA:454831
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hypoplasia of the thymus, Cryptorchidism	OMIM:214110
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Syndromic Diarrhea	Panhypogammaglobulinemia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Hypothyroidism, Th...	ORPHA:84064
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Central hypothyroidism, Contracture of the proximal interphalangeal joint of the 2nd finger, Bila...	OMIM:300998
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Osteoporosis, Accelerated skeletal maturation	OMIM:617190
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Osteoporosis, Decreased testicular size	OMIM:614838
Immunodeficiency 77	Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess	OMIM:619223
Craniofaciofrontodigital Syndrome	Osteopenia, Lower eyelid edema, Finger joint hypermobility, Joint hypermobility, Polyhydramnios, ...	ORPHA:363705
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint dislocation, Tracheomalacia, Atelectasis, Large joint dislocations, Ol...	ORPHA:536467
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundice, Epididym...	ORPHA:99827
Geroderma Osteodysplastica	Hip dislocation, Joint hypermobility, Abnormal bone ossification, Osteoporosis, Recurrent fractures	ORPHA:2078
Nestor-Guillermo Progeria Syndrome	Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, Wide cranial...	OMIM:614008
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Multiple joint dislocation, Hip subluxation, Elbow flexion contr...	ORPHA:93360
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Elbow flexion contracture, Cryptorchidism, Osteoporosis, Flexion contracture, Hip dis...	OMIM:614438
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Hypothyroidism, Subcutaneous ossification, Pseudohypoparathyroidism	OMIM:103580
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Uveitis, Lymphopenia, Abnormal lymphocyte morphology, Leuk...	ORPHA:99826
Spondyloepiphyseal Dysplasia Congenita	Genu valgum, Reduced bone mineral density, Limited elbow movement, Knee pain, Osteoporosis, Flat ...	ORPHA:94068
Rift Valley Fever	Macular edema, Hepatitis, Skin rash, Infectious encephalitis, Jaundice, Thrombocytopenia, Anemia,...	ORPHA:319251
Stuve-Wiedemann Syndrome 1	Pulmonary hypoplasia, Talipes valgus, Pathologic fracture, Elbow flexion contracture, Oligohydram...	OMIM:601559
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Prader-Willi Syndrome	Small pituitary gland, Osteopenia, Periodontitis, Erysipelas, Xerostomia, Central hypothyroidism,...	ORPHA:739
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Congenital hip dislocation, Aplastic anemia, Eczematoid dermatitis, ...	OMIM:617052
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Pneumonia, Normocytic anemia, Macular edema, Abnormality of the hepatic vasculature, Nodular rege...	ORPHA:247691
Cleidocranial Dysplasia	Recurrent respiratory infections, Genu valgum, Decreased skull ossification, Wormian bones, Sinus...	ORPHA:1452
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Bilobate gallbladder, Anisopoikilocytosis, Osteoporosis	OMIM:607330
Zygomycosis	Pustule, Acute infectious pneumonia, Neutropenia, Periorbital edema, Endocarditis, Pleural effusi...	ORPHA:73263
Calvarial Doughnut Lesions With Bone Fragility	Osteoporosis, Osteopenia, Recurrent fractures	OMIM:126550
Xp21 Deletion Syndrome	Recurrent otitis media, Adrenal insufficiency, Primary adrenal insufficiency, Joint hypermobility...	ORPHA:261476
Mucolipidosis Type Iii Alpha/Beta	Recurrent upper respiratory tract infections, Recurrent otitis media, Joint stiffness, Generalize...	ORPHA:423461
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Chol...	OMIM:615895
Ruijs-Aalfs Syndrome	Elbow flexion contracture, Osteoporosis, Delayed skeletal maturation, Hepatocellular carcinoma	OMIM:616200
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Pleural...	ORPHA:167
Japanese Encephalitis	Genu recurvatum, Stiff neck, Elbow flexion contracture, Increased circulating antibody level, Inf...	ORPHA:79139
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis, Lower limb pain	ORPHA:199354
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Cervical subluxation, Arthritis	OMIM:184100
Adiposis Dolorosa	Xerostomia, Autoimmunity, Hypothyroidism, Arthritis, Recurrent skin infections	ORPHA:36397
Aortic Aneurysm, Familial Thoracic 12	Arthritis	OMIM:619825
Amish Lethal Microcephaly	Hepatomegaly, Osteoporosis, Limitation of joint mobility, Decreased skull ossification	ORPHA:99742
Pseudoachondroplasia	Delayed epiphyseal ossification, Genu recurvatum, Ulnar deviation of the wrist, Genu valgum, Limi...	OMIM:177170
Neu-Laxova Syndrome	Osteopenia, Rickets, Osteomalacia, Pterygium, Polyhydramnios, Osteoporosis, Flexion contracture, ...	ORPHA:2671
Immunodeficiency 56	Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Chron...	OMIM:615207
Cenani-Lenz Syndrome	Synostosis of joints, Synostosis of carpal bones, Elbow dislocation, Radioulnar synostosis, Hypot...	ORPHA:3258
Scrub Typhus	Splenomegaly, Skin rash, Infectious encephalitis, Lymphadenopathy, Hyperhidrosis, Myocarditis, An...	ORPHA:83317
Kawasaki Disease	Hepatitis, Abnormal pulmonary interstitial morphology, Cervical lymphadenopathy, Leukocytosis, Sk...	ORPHA:2331
Glycogen Storage Disease Ia	Gout, Pancreatitis, Hepatomegaly, Osteoporosis, Hepatocellular carcinoma	OMIM:232200
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Osteopenia, Xerostomia, Central hypothyroidism, Decreased testicular size,...	ORPHA:398079
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections, Polyhydramnios	ORPHA:596
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Osteoporosis, Skin rash	OMIM:601979
Stüve-Wiedemann Syndrome	Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Elbow flexion contracture, Gen...	ORPHA:3206
Behcet Syndrome	Iridocyclitis, Erythema nodosum, Arthritis, Epididymitis, Iritis	OMIM:109650
Microscopic Polyangiitis	Uveitis, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pancreatitis, Art...	ORPHA:727
Idiopathic Juvenile Osteoporosis	Osteoporosis, Recurrent fractures, Bone pain	ORPHA:85193
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis, Camptodactyly of finger, Delayed cranial suture closure	ORPHA:2135
Nocardiosis	Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Brain abscess, Osteomyelit...	ORPHA:31204
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Recurrent sinusitis, Joint hypermobility, Osteoarthritis, Hyperextensibility o...	OMIM:130000
Osteogenesis Imperfecta, Type Iii	Bowing of limbs due to multiple fractures, Decreased calvarial ossification, Wormian bones, Sever...	OMIM:259420
Ovarian Dysgenesis 8	Osteoporosis, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu...	OMIM:618187
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Central hypothyroidism, Decreased response to growth hormone stimulation test, Decrea...	ORPHA:98754
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Decreased testicular size, Splenomegaly, Impaired T cell function	OMIM:201100
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Hypothyroidism, Pseudohypoparathyroidism	OMIM:612462
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612287
Hardikar Syndrome	Hepatic fibrosis, Portal inflammation, Intrahepatic bile duct cysts, Cholestasis, Pyelonephritis,...	OMIM:301068
Primary Ciliary Dyskinesia	Polysplenia, Atelectasis, Recurrent otitis media, Pulmonary situs ambiguus, Respiratory tract inf...	ORPHA:244
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Central hypothyroidism, Decreased response to growth hormone stimulation test, Decrea...	ORPHA:98793
Histiocytosis-Lymphadenopathy Plus Syndrome	Retroperitoneal fibrosis, Pancreatic hypoplasia, Camptodactyly of finger, Elbow flexion contractu...	OMIM:602782
Osteogenesis Imperfecta	Osteopenia, Pulmonary hypoplasia, Fractures of the long bones, Genu valgum, Reduced bone mineral ...	ORPHA:666
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Central hypothyroidism, Decreased response to growth hormone stimulation test, Decrea...	ORPHA:177904
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Gout, Arthritis	ORPHA:411543
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Central hypothyroidism, Decreased response to growth hormone stimulation test, Decrea...	ORPHA:177901
Diffuse Cutaneous Systemic Sclerosis	Xerostomia, Autoimmunity, Arthritis, Flexion contracture, Pulmonary fibrosis, Osteolysis	ORPHA:220393
Polymyositis	Chondrocalcinosis, Autoimmunity, Arthritis, Hepatomegaly, Abnormal pulmonary interstitial morphol...	ORPHA:732
Osteogenesis Imperfecta, Type Xviii	Joint hypermobility, Wormian bones, Thin bony cortex, Generalized osteoporosis, Recurrent fractures	OMIM:617952
Dermatomyositis	Abnormal eosinophil morphology, Anti-transcription intermediary factor-1gamma antibody positivity...	ORPHA:221
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Oligohy...	OMIM:176270
Laron Syndrome	Osteoarthritis, Abnormality of the elbow	ORPHA:633
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612286
Alpha-Mannosidosis, Infantile Form	Pneumonia, Osteopenia, Cranial hyperostosis, Talipes valgus, Joint stiffness, Genu valgum, Hepato...	ORPHA:309282
Premature Aging Syndrome, Penttinen Type	Delayed skeletal maturation, Delayed cranial suture closure, Wormian bones, Corneal stromal edema...	OMIM:601812
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Osteoporosis, Delayed skeletal maturation	ORPHA:73272
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Osteopenia, Xerostomia, Central hypothyroidism, Recurrent respiratory infe...	ORPHA:398069
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis	ORPHA:411536
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Hyperaldosteronism, Macronodular adrenal...	ORPHA:189427
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Osteoporosis	OMIM:266510
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem...	ORPHA:329918
Stickler Syndrome, Type I	Joint stiffness, Joint hypermobility, Arthropathy, Osteoarthritis, Arthritis	OMIM:108300
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Increased circulating cortisol level, Abnormal lymph node morphology, ...	ORPHA:99889
Spondyloepiphyseal Dysplasia, Maroteaux Type	Generalized osteoporosis, Genu valgum, Small joint hypermobilty	OMIM:184095
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis	ORPHA:397744
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Delayed skeletal maturation, Breast hypoplasia, Decreased testicular size, Cryptorchi...	ORPHA:432
Gm1 Gangliosidosis	Coarse metaphyseal trabecularization, Camptodactyly of finger, Aspiration pneumonia, Joint stiffn...	ORPHA:354
Tbck-Related Intellectual Disability Syndrome	Eczematoid dermatitis, Delayed skeletal maturation, Decreased response to growth hormone stimulat...	ORPHA:488632
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections, Cryptorchidism, Joint hypermobility, Polyhydramnios,...	ORPHA:98905
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Pulmonary hypoplasia, Joint dislocation, Lymphedema, Elbow flexion contracture, Sublu...	ORPHA:536471
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Autoimmune hemolytic anemia, Hashimoto thyroiditis,...	ORPHA:436252
Trichinellosis	Increased circulating IgE level	ORPHA:863
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus	OMIM:617022
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Ankle clonus, Aspiration pneumonia	ORPHA:52368
Occipital Horn Syndrome	Synostosis of joints, Osteopenia, Rickets, Hepatitis, Osteomalacia, Delayed cranial suture closur...	ORPHA:198
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia	ORPHA:90117
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t...	ORPHA:60033
Pontocerebellar Hypoplasia, Type 2E	Osteoporosis, Flexion contracture	OMIM:615851
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout	OMIM:603860
Hyperuricemia, Hprt-Related	Podagra	OMIM:300323
Acth-Independent Macronodular Adrenal Hyperplasia 2	Osteoporosis, Macronodular adrenal hyperplasia, Increased circulating cortisol level	OMIM:615954
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Premature osteoarthritis, Hepatosplenomegaly, Joint hypermobilit...	ORPHA:93352
Rheumatic Fever	Arthritis, Sinusitis, Myocarditis, Endocarditis, Pericarditis	ORPHA:3099
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph...	OMIM:158310
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia	OMIM:619057
Schwartz-Jampel Syndrome	Shoulder flexion contracture, Elbow dislocation, Delayed skeletal maturation, Decreased testicula...	ORPHA:800
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Knee flexion contractur...	OMIM:619708
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Increased circulating interferon-gamma concentration, Hepat...	ORPHA:51
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Alkaptonuria	Limited hip movement, Intervertebral disk degeneration, Arthropathy, Limited shoulder movement, A...	OMIM:203500
Congenital Disorder Of Glycosylation, Type Iiw	Increased hepatic echogenicity, Recurrent otitis media, Microcytic anemia, Splenomegaly, Hepatic ...	OMIM:619525
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Ankylosis, Osteoporosis, Recurrent fractures	OMIM:239000
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Reynolds Syndrome	Keratoconjunctivitis sicca, Skin rash, Arthritis, Infectious encephalitis	ORPHA:779
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Pulmonary artery hypoplasia, Delayed skeletal maturation, Bilateral cryptorchidism, D...	ORPHA:2326
Dpagt1-Cdg	Anasarca, Hepatomegaly, Anemia, Camptodactyly, Osteoporosis, Flexion contracture, Pulmonary hypop...	ORPHA:86309
Localized Scleroderma	Fasciitis, Sclerosis of finger phalanx, Esophagitis, Autoimmunity, Hashimoto thyroiditis, Arthrit...	ORPHA:90289
X-Linked Hypophosphatemia	Limitation of joint mobility, Rickets, Sacroiliac joint synovitis, Genu valgum, Vertebral hyperos...	ORPHA:89936
Bartsocas-Papas Syndrome	Synostosis of joints, Popliteal pterygium	ORPHA:1234
Thyroid Lymphoma	Goiter, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Lymphadenopathy	ORPHA:97285
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Dehydration, Pyoderma, Pneumothorax, Gastrointestinal inflammation, Anemia, Osteoporos...	ORPHA:79404
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Prolactinoma	Osteopenia, Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficie...	ORPHA:2965
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Behçet Disease	Recurrent aphthous stomatitis, Pleuritis, Pleural effusion, Splenomegaly, Infectious encephalitis...	ORPHA:117
Osteogenesis Imperfecta, Type Xvii	Hip dislocation, Joint hypermobility, Osteoporosis, Reduced bone mineral density, Recurrent fract...	OMIM:616507
Pulmonary Non-Tuberculous Mycobacterial Infection	Pleural effusion, Pneumothorax, Lymphadenopathy, Pericardial effusion, Bronchiectasis	ORPHA:411703
Bloom Syndrome	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Leukemia, Decrease...	OMIM:210900
Kid Syndrome	Posterior blepharitis, Folliculitis, Acne inversa, Keratitis, Patellar hypoplasia, Psoriasiform d...	ORPHA:477
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia	ORPHA:2590
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Recurrent pneumonia, Congenital hip dislocation, Joint dislocation, Joint hypermobili...	OMIM:225400
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Micronodular cirrhosis, Aspiration pneumonia, Ascites, Splenomegaly, Seborrheic dermatitis, Throm...	OMIM:301072
Otospondylomegaepiphyseal Dysplasia	Limitation of joint mobility, Abnormal joint morphology, Enlarged joints, Osteoarthritis, Abnorma...	ORPHA:1427
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteoporosis, Osteopenia, Primary hypercortisolism, Increased circulating cortisol level	OMIM:610489
Mucopolysaccharidosis, Type Vi	Pneumonia, Recurrent upper respiratory tract infections, Hypoplastic acetabulae, Joint stiffness,...	OMIM:253200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Plague	Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Splenomegaly, Hepatom...	ORPHA:707
Aromatase Deficiency	Delayed epiphyseal ossification, Osteopenia, Delayed skeletal maturation, Genu valgum, Hepatic st...	ORPHA:91
Chops Syndrome	Tracheomalacia, Aspiration pneumonia, Splenomegaly, Cryptorchidism, Cervical C2/C3 vertebral fusi...	OMIM:616368
Pituitary Adenoma 4, Acth-Secreting	Osteoporosis, Pituitary adenoma, Edema	OMIM:219090
Autosomal Recessive Malignant Osteopetrosis	Otitis media, Splenomegaly, Chronic rhinitis, Hepatomegaly, Pulmonary artery stenosis, Osteopetro...	ORPHA:667
Premature Aging Syndrome, Okamoto Type	Osteoporosis	OMIM:601811
Glycogen Storage Disease Ic	Inflammation of the large intestine, Recurrent upper respiratory tract infections, Cyclic neutrop...	OMIM:232240
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Increased circulating interleukin 6 concentration, Pleural effusion, Leukocytosis, Pul...	ORPHA:340
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:620040
Hyperparathyroidism-Jaw Tumor Syndrome	Chondrocalcinosis, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Bone pain, Pancrea...	ORPHA:99880
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Autoimmunity, Infectious encephalitis	ORPHA:363558
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Osteopenia, Breast hypoplasia, Streak ovary, Cryptorchidism, Aplasia of th...	ORPHA:2232
Simpson-Golabi-Behmel Syndrome	Increased circulating IgE level, Splenomegaly, Polysplenia	ORPHA:373
Hajdu-Cheney Syndrome	Osteopenia, Foot acroosteolysis, Pathologic fracture, Genu valgum, Cryptorchidism, Joint hypermob...	OMIM:102500
X Small Rings	Osteoporosis, Oligohydramnios, Reduced bone mineral density, Joint hypermobility	ORPHA:96201
Lassa Fever	Facial edema, Conjunctivitis, Jaundice, Increased circulating IgM level	ORPHA:99824
Cockayne Syndrome B	Limitation of joint mobility, Splenomegaly, Cryptorchidism, Anhidrosis, Hepatomegaly, Osteoporosi...	OMIM:133540
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Recurrent otitis media, Genu valgum, Hepatic steatosis, Cirr...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Genu valgum, Hepatic steatosis, Cirr...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Genu valgum, Hepatic steatosis, Cirr...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Recurrent otitis media, Genu valgum, Hepatic steatosis, Cirr...	ORPHA:881
Relapsing Polychondritis	Uveitis, Limitation of joint mobility, Hepatitis, Keratitis, Recurrent aphthous stomatitis, Chond...	ORPHA:728
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Delayed skeletal...	ORPHA:168558
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Cryptorchidism, Joint hypermobility, Osteoporosis	OMIM:619718
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Hepatosplenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Abnorm...	ORPHA:85450
Parathyroid Carcinoma	Chondrocalcinosis, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphol...	ORPHA:143
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Iron deficiency anemia, Glomerulonephritis, Gastrointestinal ...	ORPHA:79408
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Hip subluxation, Carpal synostosis, Pathologic fracture, Genu valgum, Joint hypermobility, Radial...	OMIM:271640
Dowling-Degos Disease	Acne inversa, Arthritis	ORPHA:79145
Complement Factor B Deficiency	Pneumonia, Decreased circulating complement factor B concentration, Peritonitis	OMIM:615561
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Abnormality of the Leydig cells, Delayed skeletal...	ORPHA:289548
Malt Lymphoma	Posterior uveitis, Hyperhidrosis, Lymphadenopathy, Anemia, Recurrent respiratory infections, Medi...	ORPHA:52417
Menkes Disease	Chondrocalcinosis, Osteomyelitis, Joint hypermobility, Wormian bones, Prolonged neonatal jaundice...	ORPHA:565
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Recurrent tonsillitis, Aspiration pneumonia, Joint stiffness, Genu val...	ORPHA:581
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Avascular necrosis of the capital femoral epiphys...	OMIM:619377
Giant Cell Arteritis	Joint stiffness, Abnormal pleura morphology, Hyperhidrosis, Arthritis, Recurrent pharyngitis, Med...	ORPHA:397
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Genu varum, Osteoarthritis	OMIM:602111
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia	OMIM:616638
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat...	ORPHA:542323
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Autoimmune antibody positivity, Acute infectious pneumonia	ORPHA:264675
Autosomal Dominant Progressive External Ophthalmoplegia	Goiter, Abnormality of the liver, Hypothyroidism, Hyperthyroidism, Osteoporosis, Edema	ORPHA:254892
22Q11.2 Deletion Syndrome	Cholelithiasis, Impaired T cell function, Splenomegaly, Cryptorchidism, Hypoplasia of the thymus,...	ORPHA:567
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Cryptorchidism, Thin bony cortex, Osteoporosis, Recurrent fractures, Hyperextensibility of the fi...	OMIM:309583
Cystic Fibrosis	Osteopenia, Exocrine pancreatic insufficiency, Abnormality of the liver, Recurrent lower respirat...	ORPHA:586
Gaucher Disease, Type Ii	Bronchiolitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pneumonia	OMIM:230900
Tsh-Secreting Pituitary Adenoma	Osteopenia, Secondary growth hormone deficiency, Enlarged pituitary gland, Adrenocorticotropin de...	ORPHA:91347
Digeorge Syndrome	Cholelithiasis, Parathyroid hypoplasia, Impaired T cell function, Splenomegaly, Ovarian cyst, Hyp...	OMIM:188400
Cerebrotendinous Xanthomatosis	Osteopenia, Cholelithiasis, Increased susceptibility to fractures, Hypothyroidism, Prolonged neon...	ORPHA:909
Hutchinson-Gilford Progeria Syndrome	Generalized osteoporosis, Osteolysis	OMIM:176670
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p...	ORPHA:2357
Yellow Fever	Pancreatic hyperplasia, Leukocytosis, Skin rash, Thrombocytopenia, Neutrophilia, Increased circul...	ORPHA:99829
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Brittle Cornea Syndrome	Camptodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hypermobility	ORPHA:90354
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Hypoplasia of the thymus, Adrenal hypoplasia	OMIM:613177
Rothmund-Thomson Syndrome Type 2	Facial edema, Osteopenia, Abnormal trabecular bone morphology, Joint dislocation, Aplastic anemia...	ORPHA:221016
Hereditary Sensory And Autonomic Neuropathy Type 4	Abnormality of humoral immunity, Abnormality of the ankle, Painless fractures due to injury, Fasc...	ORPHA:642
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Hydrops fetalis, Acetabular dysplasia, Aspiration pneumonia	ORPHA:79255
Hemophilia A	Joint hemorrhage, Osteoarthritis	OMIM:306700
Bronchial Neuroendocrine Tumor	Pneumonia, Increased circulating cortisol level, Chronic noninfectious lymphadenopathy, Elevated ...	ORPHA:97287
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Cerebrotendinous Xanthomatosis	Osteoporosis, Cholelithiasis, Ankle clonus	OMIM:213700
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Tarsal synostosis, Proximal symphalangism of hands, Proximal radio...	ORPHA:363417
Frank-Ter Haar Syndrome	Osteopenia, Delayed cranial suture closure, Cortical irregularity, Wormian bones, Camptodactyly, ...	OMIM:249420
Marfan Syndrome	Osteopenia, Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema, Limited elbow movem...	ORPHA:558
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Flexion contracture	OMIM:253700
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia	ORPHA:98897
Neuroblastoma	Pathologic fracture, Lymphadenopathy, Thrombocytopenia, Anemia, Bone pain	ORPHA:635
Mogs-Cdg	Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Thrombocyto...	ORPHA:79330
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Hepatic steatosis, Pulmonary edema, Abnormal hepatic...	OMIM:619991
Treacher-Collins Syndrome	Hypoplasia of the thymus, Abnormality of the adrenal glands, Thyroid hypoplasia, Cryptorchidism	ORPHA:861
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Increased circulating prolactin concentration, Aspiration pneumonia, Cryptorchidism, ...	ORPHA:438213
Alpha-1-Antitrypsin Deficiency	Hepatitis, Bronchitis, Cholestasis, Emphysema, Panniculitis, Cirrhosis, Hepatomegaly, Jaundice, P...	ORPHA:60
Cantú Syndrome	Osteoporosis, Accelerated skeletal maturation, Delayed skeletal maturation	ORPHA:1517
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Granuloma, Stiff neck, Respiratory tract infection, In...	ORPHA:68
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Joint stiffness, Genu valgum, Hepatomegaly, Osteoporosis, Recurrent fractures	ORPHA:394
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital hip dislocation, Knee dislocation, Joint hypermobility, Shoulder dislocati...	ORPHA:536545
Alg12-Cdg	Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t...	ORPHA:79324
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Knee flexion contracture, Hip contracture, Generalized lymphadenopathy...	OMIM:620232
Nk-Cell Enteropathy	Increased T cell count, Edema	ORPHA:263665
Cranioectodermal Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic cysts, Joint hypermobility, H...	OMIM:218330
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial nephritis, Anemia, Gout	OMIM:174000
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas...	OMIM:620005
Multiple Epiphyseal Dysplasia Type 4	Limitation of joint mobility, Stiff ankle, Elbow flexion contracture, Premature osteoarthritis, D...	ORPHA:93307
Eec Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit...	ORPHA:1896
Fraser Syndrome 2	Hypoplasia of the thymus	OMIM:617666
Geleophysic Dysplasia 3	Pneumonia, Delayed skeletal maturation, Polyhydramnios, Limited elbow movement, Hepatomegaly, Lim...	OMIM:617809
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Anasarca, Tracheomalacia, Micronodular cirrhosis, Ascites, Microvesicular hepatic steatosis, Jaun...	OMIM:203700
Timothy Syndrome	Pneumonia, Hypothyroidism, Bronchitis	OMIM:601005
Juvenile Neuronal Ceroid Lipofuscinosis	Hyperhidrosis, Aspiration pneumonia	ORPHA:79264
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia, Cerebral edema	OMIM:608033
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Abnormal pineal melatonin secretion, Ascites, Cho...	ORPHA:69665
Congenital Tufting Enteropathy	Punctate keratitis, Arthritis	ORPHA:92050
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Accelerated skeletal maturation, Polyhydramnios, Increased bone mineral den...	ORPHA:50945
Occipital Horn Syndrome	Persistent open anterior fontanelle, Genu valgum, Limited elbow extension, Joint hypermobility, L...	OMIM:304150
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Anasarca, Delayed skeletal maturation, Ascites, Cholestasis, Pancytopenia, O...	OMIM:613658
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia, Flexion contracture	ORPHA:79243
Atypical Werner Syndrome	Neoplasm of the lung, Chondrocalcinosis, Limitation of joint mobility, Sclerosis of hand bone, In...	ORPHA:79474
Cornelia De Lange Syndrome 1	Pneumonia, Delayed skeletal maturation, Elbow flexion contracture, Limited elbow extension, Otiti...	OMIM:122470
Hemophilia B	Joint hemorrhage, Osteoarthritis	OMIM:306900
Degcags Syndrome	Pneumonia, Osteopenia, Tracheomalacia, Delayed skeletal maturation, Cholestasis, Hepatosplenomega...	OMIM:619488
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hyper...	ORPHA:284984
X-Linked Intellectual Disability, Snyder Type	Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism, Cerebral edema, Camptodactyl...	ORPHA:3063
Congenital Disorder Of Deglycosylation 1	Hepatic fibrosis, Hyperhidrosis, Anhidrosis, Hepatomegaly, Osteoporosis, Recurrent respiratory in...	OMIM:615273
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Juvenile Dermatomyositis	Limitation of joint mobility, Autoimmunity, Skin rash, Myositis, Arthritis, Palpebral edema, Pulm...	ORPHA:93672
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Decreased circulating IgA level, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:613385
Glycerol Kinase Deficiency	Pathologic fracture, Adrenal insufficiency, Chronic pancreatitis, Cryptorchidism, Osteoporosis	OMIM:307030
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal enchondral ossification, Premature osteoarthritis, Abno...	ORPHA:93314
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Delayed skeletal maturation, Ivory epiphyses of the distal phalanges of the hand, Ava...	OMIM:190350
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Decreased testicular size, Cryptorchidism	ORPHA:1867
Rothmund-Thomson Syndrome, Type 2	Osteoporosis, Annular pancreas, Congenital hip dislocation, Cryptorchidism	OMIM:268400
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Impai...	ORPHA:79329
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Premature osteoarthritis, Flexion contracture, Recurrent pneumonia, Enlarged joints	OMIM:215150
Wolf-Hirschhorn Syndrome	Abdominal situs inversus, Delayed skeletal maturation, Abnormality of the gallbladder, Cryptorchi...	ORPHA:280
Neuroleptic Malignant Syndrome	Aspiration pneumonia, Leukocytosis, Hyperhidrosis, Thrombocytopenia, Thrombocytosis, Dehydration	ORPHA:94093
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosi...	OMIM:618278
Glass Syndrome	Camptodactyly, Generalized osteoporosis	OMIM:612313
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Limitation of joint mobility	OMIM:313400
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Normocytic anemia, Nongranulomatous uveitis, Panuveitis, Macular edema, Reduce...	ORPHA:91500
Carney Triad	Adrenal overactivity, Pheochromocytoma, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy	ORPHA:139411
Viss Syndrome	Increased circulating IgE level, Increased circulating IgG level, Decreased circulating IgA level...	OMIM:619472
Chronic Graft Versus Host Disease	Xerostomia, Urinary bladder inflammation, Fasciitis, Ascites, Pancytopenia, Pleural effusion, Ker...	ORPHA:99921
Idiopathic Camptocormia	Myositis, Myelitis, Osteoarthritis, Abnormal inflammatory response	ORPHA:1320
Fabry Disease	Lymphedema, Emphysema, Hypohidrosis, Arthritis, Anemia, Reduced bone mineral density	ORPHA:324
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Gout	ORPHA:79233
Loeys-Dietz Syndrome 3	Osteopenia, Hip osteoarthritis, Spontaneous pneumothorax, Osteochondritis dissecans, Intervertebr...	OMIM:613795
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level	ORPHA:1493
Aspartylglucosaminuria	Delayed skeletal maturation, Recurrent respiratory infections, Joint stiffness, Abnormal cortical...	ORPHA:93
Classic Pantothenate Kinase-Associated Neurodegeneration	Increased susceptibility to fractures, Aspiration pneumonia	ORPHA:216866
Mucopolysaccharidosis Type 2, Severe Form	Recurrent upper respiratory tract infections, Limitation of joint mobility, Camptodactyly of fing...	ORPHA:217085
Glycogen Storage Disease Due To Acid Maltase Deficiency	Atelectasis, Respiratory tract infection, Hepatomegaly, Osteoporosis, Flexion contracture	ORPHA:365
Proteus-Like Syndrome	Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries	ORPHA:2969
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Pulmon...	ORPHA:199241
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatic hemangioma, Hyperostosis, Generalized bone demineralization, Abnormal bone ossification, ...	ORPHA:73230
Mucopolysaccharidosis Type 2, Attenuated Form	Recurrent upper respiratory tract infections, Limitation of joint mobility, Camptodactyly of fing...	ORPHA:217093
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Foot acroosteolysis, Metacarpal periosteal thickening, Periosteal thickening of long tubular bone...	OMIM:161700
Proximal Spinal Muscular Atrophy	Elbow flexion contracture, Multiple joint contractures, Knee flexion contracture, Recurrent infec...	ORPHA:70
Infantile Neuroaxonal Dystrophy	Flexion contracture, Aspiration pneumonia	ORPHA:35069
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Williams Syndrome	Synostosis of joints, Osteopenia, Cholelithiasis, Abnormality of the ankle, Peripheral pulmonary ...	ORPHA:904
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis	ORPHA:761
Cystic Fibrosis	Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch...	OMIM:219700
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Microphthalmia With Limb Anomalies	Synostosis of joints, Synostosis of carpal bones, Elbow dislocation, Camptodactyly of 2nd-5th fin...	ORPHA:1106
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Delayed skeletal maturation, Decreased testicular...	ORPHA:90796
17Q11 Microdeletion Syndrome	Osteopenia, Abnormal lung morphology, Pheochromocytoma, Thickened cortex of long bones, Leukemia,...	ORPHA:97685
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Al Amyloidosis	Anemia, Howell-Jolly bodies, Increased circulating antibody level	ORPHA:85443
Pmm2-Cdg	Osteopenia, Hepatic fibrosis, Anasarca, Increased circulating prolactin concentration, Aspiration...	ORPHA:79318
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Prominent metopic ridge, Aspiration pneumonia	ORPHA:314655
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia	ORPHA:204
46,Xy Partial Gonadal Dysgenesis	Elevated circulating luteinizing hormone level, Ovarian gonadoblastoma, Vanishing testis, Delayed...	ORPHA:251510
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
Niemann-Pick Disease Type C	Fetal ascites, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Bone-marrow foam cells, Abnorma...	ORPHA:646
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Joint hypermobility, Oste...	OMIM:259770
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Spontaneous pneumothorax, Autoimmunity, Osteochondritis dissecans, Interverte...	OMIM:619656
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Inflammatory abnormality of the skin, Hepatomegaly, Jaundice, Pericardial effusion	ORPHA:26793
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Decreased testicular size, Polyhydramnios, Cryptorchidism, Pulmonary artery stenosis, Lower-limb ...	ORPHA:459070
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Pulmonary artery aneurysm, Spontaneous pneumothorax, Joint hypermo...	OMIM:610168
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Noonan Syndrome 1	Chylothorax, Juvenile myelomonocytic leukemia, Lymphedema, Cryptorchidism, Synovitis, Cubitus val...	OMIM:163950
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Rickets, Delayed skeletal maturation, Osteomalacia, Cryptorchidism, Osteoporosis, Abn...	ORPHA:2636
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Severe Acute Respiratory Syndrome	Acute infectious pneumonia	ORPHA:140896
Marshall Syndrome	Genu valgum, Osteoarthritis	ORPHA:560
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypoplasia of the pancrea...	ORPHA:93111
Singleton-Merten Syndrome 1	Osteopenia, Joint subluxation, Shallow acetabular fossae, Recurrent respiratory infections, Genu ...	OMIM:182250
Gitelman Syndrome	Chondrocalcinosis, Graves disease, Gout, Hashimoto thyroiditis, Iron deficiency anemia, Hyperhidr...	ORPHA:358
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis	OMIM:212065
46,Xy Sex Reversal 4	Recurrent otitis media, Distal symphalangism	OMIM:154230
Dysbetalipoproteinemia	Gout, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Acute pancreatitis	ORPHA:412
Microcephalic osteodysplastic primordial dwarfism, type III	Delayed cranial suture closure, Dislocation of the femoral head, Knee flexion contracture, Hip co...	OMIM:210730
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Adrenal hyperplasia, Decreased circulating cortisol level, Jaundice, Macroorchidism, A...	ORPHA:90790
Wiedemann-Rautenstrauch Syndrome	Hypoplasia of the thymus, Cryptorchidism, Increased serum testosterone level	OMIM:264090
Loeys-Dietz Syndrome 5	Joint hypermobility, Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finge...	OMIM:615582
Tay-Sachs Disease	Limited knee extension, Limited elbow extension, Ankle clonus, Aspiration pneumonia	ORPHA:845
Multiple Osteochondromas	Limitation of joint mobility, Talipes valgus, Limited hip movement, Genu valgum, Hemothorax, Abno...	ORPHA:321
Orofaciodigital Syndrome Ix	Camptodactyly, Recurrent aspiration pneumonia	OMIM:258865
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Inflammatory abnormality of the skin, Keratitis, Xerostomia, Skin rash, Keratoconjunct...	ORPHA:95455
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Congenital hip dislocation, Recurrent respiratory infections, Aspirati...	ORPHA:2020
Marshall-Smith Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia, Bilateral cryptorchidism, Cry...	OMIM:602535
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Kabuki Syndrome 1	Congenital hip dislocation, Joint dislocation, Recurrent otitis media, Congenital hypothyroidism,...	OMIM:147920
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Keratitis, Aspiration pneumonia, Tracheobronchial leiomyomatosis, Anti-smooth muscle antibody pos...	ORPHA:1018
Scleromyxedema	Paraproteinemia	ORPHA:167635
Lissencephaly Due To Lis1 Mutation	Polyhydramnios, Aspiration pneumonia	ORPHA:95232
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Delayed skeletal maturation, Limited elbow extension, Distal symphalangism	OMIM:210720
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Primrose Syndrome	Bilateral cryptorchidism, Genu valgum, Cryptorchidism, Knee flexion contracture, Hip contracture,...	OMIM:259050
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Tr...	ORPHA:95430
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Leptospirosis	Hepatitis, Pulmonary hemorrhage, Pleural effusion, Skin rash, Optic neuritis, Lymphadenopathy, Th...	ORPHA:509
Dubowitz Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Acute lymphoblastic leukemia, A...	OMIM:223370
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent respiratory infections, Supernumerary nipple, Early ossification of capital femoral epi...	ORPHA:397715
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Lymphedema, Ascites, Emphysema, Pulmonary lymphangiomyomatosis, Abnorma...	ORPHA:538
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Aspiration pneumonia	OMIM:619167
Truncus Arteriosus	Hypoplasia of the thymus, Adrenocortical abnormality	ORPHA:3384
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Polyhydramnios, Cryptorchidism, Camptodactyly, Recurrent aspiratio...	OMIM:247200
Williams-Beuren Syndrome	Osteopenia, Peripheral pulmonary artery stenosis, Recurrent otitis media, Portal hypertension, Jo...	OMIM:194050
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Lymphadenopathy, Edema, Extrahepatic cholestasis	ORPHA:100078
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent aspiration pneumonia, Recurrent pneumonia, Bilateral cryptorchidism	OMIM:300472
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Bickerstaff Brainstem Encephalitis	Pneumonia, Autoimmune antibody positivity, Respiratory tract infection	ORPHA:79138
Velocardiofacial Syndrome	Impaired T cell function	OMIM:192430
Tetrasomy 9P	Pulmonary hypoplasia, Joint dislocation, Systemic lupus erythematosus, Glue ear, Absent gallbladd...	ORPHA:3310
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia	ORPHA:83617
Choreoacanthocytosis	Acanthocytosis, Splenomegaly, Abnormal erythrocyte enzyme concentration or activity, Arthritis, H...	ORPHA:2388
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level	OMIM:601675
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology	ORPHA:2237
Hunter-Macdonald Syndrome	Joint contracture of the hand, Delayed cranial suture closure, Premature osteoarthritis, Cubitus ...	OMIM:611962
Adult-Onset Autosomal Dominant Leukodystrophy	Decreased sweating due to autonomic dysfunction, Flexion contracture, Anhidrosis, Aspiration pneu...	ORPHA:99027
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Tracheomalacia, Aspiration pneumonia, Decreased response to growth hormone stimulation test, Cerv...	ORPHA:444077
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Phosphoribosylpyrophosphate Synthetase Superactivity	Gout	OMIM:300661
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Delayed skeletal maturation, Aspiration pneumonia, ...	ORPHA:1465
Doors Syndrome	Aspiration pneumonia, Congenital hypothyroidism, Adrenal hyperplasia, Sagittal craniosynostosis, ...	ORPHA:79500
Stickler Syndrome	Joint dislocation, Recurrent respiratory infections, Bone pain, Genu valgum, Joint hypermobility,...	ORPHA:828
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Osteoarthritis	OMIM:619714
Cholera	Dehydration, Aspiration pneumonia	ORPHA:173
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Congenital hypothyroidism, Aplasia of the thymus, Hypothyroidism, Hypoplastic nipp...	OMIM:620186
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Cysticercosis	Increased anti-parasite IgE antibody level, Increased circulating antibody level	ORPHA:1560
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Delayed skeletal maturation, Avascular necrosis of the capital femoral epiphysis, Otit...	ORPHA:353281
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function	OMIM:176690
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Abnormal pulmonary interstitial morphology, Interstitial pneumonitis, Spontaneous neonatal pneumo...	ORPHA:217563
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Combined Oxidative Phosphorylation Deficiency 25	Aspiration pneumonia	OMIM:616430
Opitz Gbbb Syndrome	Tracheomalacia, Cryptorchidism, Enlarged ovaries, Craniosynostosis, Recurrent aspiration pneumoni...	ORPHA:2745
Arboleda-Tham Syndrome	Recurrent respiratory infections, Enlarged proximal interphalangeal joints, Recurrent otitis medi...	OMIM:616268
Mercury Poisoning	Interstitial pneumonitis	ORPHA:330021
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Peripheral pulmonary artery stenosis, Increased nuchal translucency, Recurrent aspiration pneumon...	ORPHA:280633
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Increased circulating prolactin concentration, Camptodactyly of finger, Recurrent oti...	ORPHA:3455
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Limited wrist movement, Limited hip movement, Joint stiffness, Limi...	ORPHA:740
Alobar Holoprosencephaly	Central hypothyroidism, Aspiration pneumonia, Decreased response to growth hormone stimulation te...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central hypothyroidism, Aspiration pneumonia, Decreased response to growth hormone stimulation te...	ORPHA:93926
Lobar Holoprosencephaly	Central hypothyroidism, Aspiration pneumonia, Decreased response to growth hormone stimulation te...	ORPHA:93924
Semilobar Holoprosencephaly	Central hypothyroidism, Aspiration pneumonia, Decreased response to growth hormone stimulation te...	ORPHA:220386
Marfan Syndrome	Genu recurvatum, Premature osteoarthritis, Limited elbow extension, Joint hypermobility, Camptoda...	OMIM:154700
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Gout, Biliary tract abnormality, Pancre...	OMIM:137920
Hypermobile Ehlers-Danlos Syndrome	Limitation of joint mobility, Elbow dislocation, Joint dislocation, Osteolysis, Abnormality of th...	ORPHA:285
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Avascular necrosis of the capital femoral epiphysis, Otitis media, Cryptorchidism, Joi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Avascular necrosis of the capital femoral epiphysis, Otitis media, Cryptorchidism, Joi...	ORPHA:353277
African Trypanosomiasis	Myelitis, Keratitis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Optic neuritis, Jaundice, Ly...	ORPHA:3385
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Limitation of joint mobility, Contractures of the large joints, Flexion contr...	ORPHA:580
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Pedal edema	ORPHA:99103
Fontaine Progeroid Syndrome	Coronal craniosynostosis, Absent nipple, Delayed skeletal maturation, Oligohydramnios, Cryptorchi...	OMIM:612289
Lacrimoauriculodentodigital Syndrome	Keratoconjunctivitis, Keratoconjunctivitis sicca, Arthritis	ORPHA:2363
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Anomalous pulmonary venous return	ORPHA:99104
Proteus Syndrome	Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic...	ORPHA:744
Yunis-Varon Syndrome	Congenital hip dislocation, Absent nipple, Aspiration pneumonia, Cryptorchidism, Decreased skull ...	OMIM:216340
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Aspiration pneumonia	OMIM:619482
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Periodontitis, Joint dislocation, Joint hypermobility, Osteoarthritis...	ORPHA:286
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Secretory IgA deficiency	ORPHA:500150
Lafora Disease	Recurrent aspiration pneumonia	ORPHA:501

Histopathology

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

There is no histopathology data for Zap70

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Zap70.

No publications found that use IMPC mice or data for Zap70.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Zap70^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Zap70^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Zap70^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Zap70^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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