Gene: Ciita MGI:108445

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

class II transactivator

Synonyms:

Gm9475, C2ta

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 Ciita 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 Ciita (3 diseases)
Human diseases predicted to be associated with Ciita (929 diseases)

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

Disease	Matching phenotypes	Source
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos...	ORPHA:572
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Rheumatoid Arthritis	Anti-citrullinated protein antibody positivity, Rheumatoid arthritis, Rheumatoid factor positive	OMIM:180300

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

Disease	Matching phenotypes	Source
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Medial Condensing Osteitis Of The Clavicle	Limited shoulder movement, Elevated circulating C-reactive protein concentration, Patchy reductio...	ORPHA:57196
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis	OMIM:608805
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo...	OMIM:300853
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615269
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count	OMIM:613495
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c...	OMIM:615615
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Osteoporosis	Osteoporosis	OMIM:166710
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec...	OMIM:308220
Paget Disease Of Bone 4	Osteolysis	OMIM:606263
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Recurrent infections, Decreased circulating antib...	OMIM:616911
Extensor Tendons Of Finger Anomalies	Osteoporosis, Limitation of joint mobility, Camptodactyly of finger	ORPHA:3294
Reticular Dysgenesis	Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosi...	OMIM:267500
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Candidiasis, Familial, 1	Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis	OMIM:114580
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ...	OMIM:618987
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy...	OMIM:617241
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop...	OMIM:617514
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno...	OMIM:607271
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Osteoporosis, Flexion contracture, Osteolysis	OMIM:228600
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul...	OMIM:619924
Xanthoma Disseminatum	Osteolysis	ORPHA:158003
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Anemia, Osteoporosis, Osteolysis	ORPHA:100024
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615271
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Phaeohyphomycosis, Abn...	OMIM:212050
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func...	OMIM:240500
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent upper respiratory tract infections, Recurrent pneumonia, Absence of lymph node germinal...	ORPHA:277
Winchester Syndrome	Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis	OMIM:277950
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ...	OMIM:619220
Immunodeficiency 8 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent otitis media, Lymphopenia, Complete or ne...	OMIM:615401
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti...	OMIM:618982
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet...	OMIM:618459
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Immunodeficiency 48	Pneumocystis carinii pneumonia, Panhypogammaglobulinemia, Recurrent candida infections, Abnormal ...	OMIM:269840
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func...	OMIM:607594
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Immunodeficiency 15A	Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn...	OMIM:618204
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ...	OMIM:601859
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent...	OMIM:619846
Osteopenia And Sparse Hair	Osteopenia, Joint hypermobility	OMIM:259690
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
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Autosomal Recessive Distal Osteolysis Syndrome	Osteolysis	ORPHA:2776
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis	ORPHA:970
Lupus Erythematosus Tumidus	Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Antinuclear antibody positivity...	ORPHA:90283
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Secretory Component Deficiency	Chronic intestinal candidiasis, Secretory IgA deficiency	OMIM:269650
Lipase Deficiency, Combined	Type II diabetes mellitus, Pancreatitis	OMIM:246650
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g...	OMIM:619290
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec...	ORPHA:169154
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ...	OMIM:616941
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia	OMIM:610947
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Rosaï-Dorfman Disease	Anemia, Osteolysis	ORPHA:158014
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis, Recurrent bacterial infec...	OMIM:607624
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Joint hypermobility	ORPHA:2787
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Isolated Glycerol Kinase Deficiency	Osteoporosis, Elevated circulating creatine kinase concentration	ORPHA:408
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level	OMIM:619773
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Juvenile Hyaline Fibromatosis	Joint stiffness, Progressive flexion contractures, Osteolysis	ORPHA:2028
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia	OMIM:613606
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Agammaglob...	OMIM:300400
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level...	ORPHA:98813
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Systemic Lupus Erythematosus 16	Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib...	OMIM:614420
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis	OMIM:167250
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga...	OMIM:612692
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent infections, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Follicular hy...	OMIM:614470
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu...	OMIM:613501
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615270
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, T lymphocytopenia, Recurrent bacterial infections, Throm...	ORPHA:169079
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega...	OMIM:603909
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Recurrent in...	OMIM:608184
Familial Hyperprolactinemia	Osteoporosis, Osteopenia	ORPHA:397685
Immunodeficiency 20	Reduced natural killer cell count, Severe varicella zoster infection, BCGitis, Recurrent otitis m...	OMIM:615707
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease...	OMIM:615767
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615267
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Gorham-Stout Disease	Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Osteolysis involving bones...	ORPHA:73
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones	ORPHA:53697
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer cells, Decr...	OMIM:600802
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis, ...	OMIM:616126
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M...	OMIM:619281
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG...	OMIM:209950
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Hereditary Chronic Pancreatitis	Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Jaundice, Diabetes mellitus	ORPHA:676
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Autoimmuni...	ORPHA:411593
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Autoi...	ORPHA:444463
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Idiopathic Hypercalciuria	Osteoporosis, Osteopenia	ORPHA:2197
Flynn-Aird Syndrome	Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral...	OMIM:136300
Hypercholanemia, Familial, 2	Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:619256
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia, Decreased proportion of CD4-pos...	ORPHA:572
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4...	OMIM:618495
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Recurrent viral infections, Intestinal lymphangiectasia, Splenom...	OMIM:620632
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Autoimmunity, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Reduced bone mineral density, Recurrent fractures	ORPHA:2410
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Lymphopenia, Hepatos...	ORPHA:331206
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
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De...	OMIM:616098
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect...	OMIM:242700
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis, Hypoglycemia	OMIM:620137
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Chylous Ascites	Pancreatitis	ORPHA:1160
Ollier Disease	Anemia, Joint stiffness, Osteolysis	ORPHA:296
Immunodeficiency, Common Variable, 13	Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio...	OMIM:616873
Schnitzler Syndrome	Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly	ORPHA:37748
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Osteomyelitis, Abscess, Splenomegaly, Neutrophilia, Elevated circulating...	OMIM:612852
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:209004
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Lymphop...	OMIM:618935
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ...	OMIM:615122
Keratoderma Hereditarium Mutilans	Osteolysis	ORPHA:494
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures	OMIM:612287
Congenital Disorder Of Glycosylation, Type Iik	Osteoporosis, Elevated circulating creatine kinase concentration, Thrombocytopenia, Joint hypermo...	OMIM:614727
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low...	OMIM:308230
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hypocalcemia, Hypophosph...	ORPHA:93160
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Meningitis, Decreased lymphocyte proliferation in response to mitogen, Opp...	ORPHA:83471
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Activated Pi3K-Delta Syndrome	B lymphocytopenia, Increased circulating IgM level, Splenomegaly, Decreased circulating antibody ...	ORPHA:397596
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema...	OMIM:617006
Hjv Or Hamp-Related Hemochromatosis	Osteoporosis, Elevated transferrin saturation, Abnormality of iron homeostasis, Increased circula...	ORPHA:79230
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Limitation of joint mobility, Carpal osteolysis, Camptodactyly of finger, Metacarpal osteolysis, ...	ORPHA:2774
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re...	ORPHA:911
Ramon Syndrome	Osteolysis	ORPHA:3019
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Autoimmunity	OMIM:137100
Osteosarcoma	Pathologic fracture, Osteolysis	ORPHA:668
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Abnormal natu...	OMIM:613101
Hutchinson-Gilford Progeria Syndrome	Generalized osteoporosis, Osteolysis	OMIM:176670
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Aggressive Systemic Mastocytosis	Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased pro...	ORPHA:98850
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis	ORPHA:2786
Juvenile Paget Disease	Coarse metaphyseal trabecularization, Cranial hyperostosis, Hyperuricemia, Osteoporosis, Recurren...	ORPHA:2801
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun...	OMIM:601457
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia	ORPHA:27
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 104	Chronic mucocutaneous candidiasis, Failure to thrive secondary to recurrent infections, Recurrent...	OMIM:608971
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi...	ORPHA:79106
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus	OMIM:608600
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Pneum...	OMIM:618806
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Pancreatitis, Hepatic steatosis, Hypoglycemia	OMIM:619386
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Craniofacial osteosclerosis, Osteomyelitis, Hyperostosis, Elevated circulating C-reactive protein...	ORPHA:324964
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent infections, Decreased circulating IgG level, Decreased lymphocyte proliferation in resp...	ORPHA:169160
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia, Hepatomegaly, Pancreatitis, Hepatic steatosis	OMIM:618805
Immunodeficiency 46	Sepsis, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Anemia, Mening...	OMIM:616740
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgE level, Recurr...	ORPHA:217390
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteoporosis, Osteopenia, Hypophosphatemia, Increased susceptibility to fractures	OMIM:612286
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen...	OMIM:600785
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev...	OMIM:242860
Selective Igm Deficiency	Lymphadenitis, Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess,...	ORPHA:331235
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ...	ORPHA:100026
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Idiopathic Juvenile Osteoporosis	Osteoporosis, Recurrent fractures	ORPHA:85193
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis	OMIM:618230
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut...	OMIM:617099
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Osteoporosis, Joint hypermobility	OMIM:616033
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia	OMIM:615266
Hyperzincemia With Functional Zinc Depletion	Osteoporosis, Increased serum zinc	OMIM:601979
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count, Autoimmunity	OMIM:131430
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Osteoporosis	ORPHA:2958
Classic Hodgkin Lymphoma	Splenomegaly, Osteolysis	ORPHA:391
Rothmund-Thomson Syndrome, Type 1	Osteoporosis	OMIM:618625
Desmoid Tumor	Limitation of joint mobility, Osteolysis	ORPHA:873
Tenosynovial Giant Cell Tumor	Limitation of joint mobility, Localized osteoporosis, Joint stiffness, Joint hemorrhage, Osteolysis	ORPHA:66627
Immunodeficiency 17	Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit...	OMIM:615607
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti...	ORPHA:69663
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur...	OMIM:193670
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, H...	OMIM:301078
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Osteoporosis	ORPHA:71267
Infantile Myofibromatosis	Hypercalcemia, Limitation of joint mobility, Osteolysis, Bone cyst	ORPHA:2591
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Autoimmunity, Arthritis	OMIM:216950
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Acholic stools, Jaundice, Hep...	ORPHA:65682
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells...	OMIM:619126
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Osteoporosis, Abnormal mast...	ORPHA:98848
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Congenital Bile Acid Synthesis Defect Type 1	Osteoporosis, Splenomegaly	ORPHA:79301
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Pathologic fracture, Increased susceptibility to fractures, Elevated circulating creatine kinase ...	ORPHA:52430
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Osteolysis involving tarsal bones, Increased susceptibility to fra...	ORPHA:371428
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Purine Nucleoside Phosphorylase Deficiency	Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Recurrent ...	OMIM:613179
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve...	OMIM:618048
Thrombocytopenia 6	Osteoporosis, Myelofibrosis, Thrombocytopenia	OMIM:616937
Immunodeficiency 19	Recurrent otitis media, Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer ce...	OMIM:615617
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sclerosis of skull base, Increased susceptibility to fractures, Oste...	OMIM:602080
Prieto Syndrome	Osteoporosis	OMIM:309610
Propionic Acidemia	Eczematoid dermatitis, Hypoglycemia, Pancytopenia, Hepatomegaly, Pancreatitis, Thrombocytopenia, ...	OMIM:606054
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Gnathodiaphyseal Dysplasia	Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis	OMIM:166260
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Osteoporosis, Eosinophilia	OMIM:620532
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:614880
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Gaucher Disease Type 1	Splenic infarction, Osteopenia, Elevated circulating CCL18 level, Decreased HDL cholesterol conce...	ORPHA:77259
Immunodeficiency 66	Meningitis, Defective T cell proliferation, Sepsis	OMIM:618847
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Lymphopeni...	OMIM:616100
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc...	OMIM:600803
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den...	OMIM:241520
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection...	OMIM:602450
Boutonneuse Fever	Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia	ORPHA:83313
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level	OMIM:300310
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig...	OMIM:618394
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia, Leukopenia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Tubulointers...	OMIM:251000
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Reduced bone mineral density, Delayed ossification of carpal bones	OMIM:617974
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Abno...	ORPHA:2585
Immunoglobulin Kappa Light Chain Deficiency	Recurrent infections, Absent circulating immunoglobulin kappa chain, Recurrent respiratory infect...	OMIM:614102
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent viral infections, Decreased speci...	OMIM:606367
Frank-Ter Haar Syndrome	Joint stiffness, Osteolysis, Camptodactyly of finger	ORPHA:137834
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in...	ORPHA:231154
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology, Recurrent otitis media, Agammaglobulinemia, Recurrent infections, Dec...	OMIM:616910
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Osteolysis, Osteoarthritis	ORPHA:1657
Felty Syndrome	Limitation of joint mobility, Abnormal lymphocyte morphology, Splenomegaly, Synovitis, Neutropeni...	ORPHA:47612
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteoporosis, Osteopenia, Hyperlipidemia	ORPHA:369
Calvarial Doughnut Lesions With Bone Fragility	Osteoporosis, Osteopenia, Recurrent fractures	OMIM:126550
Systemic Lupus Erythematosus 17	Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukop...	OMIM:301080
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu...	OMIM:616871
Maffucci Syndrome	Recurrent fractures, Osteolysis	ORPHA:163634
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan...	OMIM:167800
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis	OMIM:618234
Systemic Capillary Leak Syndrome	Myocarditis, Pancreatitis, Leukocytosis, Pericarditis	ORPHA:188
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Recurrent respiratory infectio...	OMIM:618116
Juvenile Arthritis	Antinuclear antibody positivity, Leukocytosis, Skin rash, Thrombocytosis	OMIM:618795
Short Stature, Dauber-Argente Type	Osteopenia, Reduced bone mineral density, Increased insulin like growth factor binding protein ac...	OMIM:619489
Perrault Syndrome 1	Osteoporosis	OMIM:233400
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Cirrhos...	ORPHA:79083
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Infectious encephalitis, Pancr...	ORPHA:549
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Recurrent...	ORPHA:79124
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph...	OMIM:619164
Bruck Syndrome 1	Ankle flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures, Knee...	OMIM:259450
Chondroectodermal Dysplasia With Night Blindness	Osteoporosis, Osteopenia, Fractures of the long bones	ORPHA:319195
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m...	ORPHA:90280
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Sialidosis Type 2	Osteoporosis, Flexion contracture, Splenomegaly	ORPHA:87876
Bruck Syndrome	Osteoporosis, Joint stiffness, Arthrogryposis multiplex congenita, Recurrent fractures	ORPHA:2771
Tropical Calcific Pancreatitis	Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,...	OMIM:608189
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Abnormal circulating beta-C-terminal telopeptide concentration	OMIM:615923
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot...	OMIM:620210
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,...	OMIM:152700
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
Maple Syrup Urine Disease, Type Ia	Pancreatitis, Hypoglycemia	OMIM:248600
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Limitation of joint mobility, Symmetric polyarthritis, Synovitis, Arthritis, Elevated...	ORPHA:85435
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p...	ORPHA:103918
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis, Insulin-resistant diabetes mellitus	ORPHA:435651
Morgagni-Stewart-Morel Syndrome	Hyperuricemia, Hypercholesterolemia, Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna	ORPHA:77296
Rat-Bite Fever	Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, O...	ORPHA:31205
Osteogenesis Imperfecta, Type Xii	Hypermobility of interphalangeal joints, Osteoporosis, Generalized osteoporosis, Recurrent fractu...	OMIM:613849
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Hepatic steatosis, Splenomegaly, Pancreatitis, Hepatomegaly, Diabetes mellitus	ORPHA:2348
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency 23	Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu...	OMIM:615816
Alpha-Heavy Chain Disease	Anemia, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy	ORPHA:100025
Immunodeficiency 13	Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop...	OMIM:615518
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Neutropenia,...	OMIM:300755
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Osteoporosis	OMIM:614838
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Microscopic Polyangiitis	Uveitis, Autoimmunity, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pan...	ORPHA:727
Immunodeficiency 32B	BCGitis, Recurrent respiratory infections, Impaired oxidative burst, Abnormal circulating IgG lev...	OMIM:226990
Mucolipidosis Type Iii Alpha/Beta	Generalized osteoporosis, Joint stiffness, Flexion contracture, Osteolysis	ORPHA:423461
Familial Isolated Hyperparathyroidism	Generalized osteoporosis, Osteopenia, Hypophosphatemia, Hypercalcemia	ORPHA:99879
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Osteoporosis, Finger joint contracture, Flexion contracture of toe	ORPHA:48431
Progressive Familial Intrahepatic Cholestasis	Reduced bone mineral density, Splenomegaly, Hypocalcemia	ORPHA:172
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Camptodactyly of finger, Camptodactyly of toe, Knee osteoarthritis, ...	ORPHA:2848
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,...	OMIM:600081
Warburg Micro Syndrome 1	Osteoporosis, Joint hypermobility	OMIM:600118
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Delayed ossification of carpal bones	OMIM:618392
Mycetoma	Painless fractures due to injury, Pathologic fracture, Osteomyelitis, Osteoporosis, Bone cyst, Ab...	ORPHA:2583
Osteoporosis-Pseudoglioma Syndrome	Osteoporosis, Osteopenia, Increased susceptibility to fractures, Joint hypermobility	ORPHA:2788
Nestor-Guillermo Progeria Syndrome	Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, Osteolytic d...	OMIM:614008
Ovarian Dysgenesis 8	Osteoporosis	OMIM:618187
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteoporosis, Osteopenia	ORPHA:529665
Schimke Immuno-Osseous Dysplasia	Minimal change glomerulonephritis, Bone marrow hypocellularity, Abnormal proportion of naive CD4 ...	ORPHA:1830
Acquired Partial Lipodystrophy	Insulin resistance, Autoimmunity, Hepatic steatosis, Lymphocytosis	ORPHA:79087
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pancreatitis, Diabetic ketoacidosis	ORPHA:70578
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Thrombocytopenia, Maculopapular exanthema, Acute pancreatitis	ORPHA:319218
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurrent sinopulmonary in...	OMIM:616576
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis	OMIM:610628
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Pseudopseudohypoparathyroidism	Osteoporosis	OMIM:612463
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ...	ORPHA:275
Cach Syndrome	Optic neuritis, Hepatosplenomegaly, Pancreatitis	ORPHA:135
Premature Aging Syndrome, Okamoto Type	Osteoporosis	OMIM:601811
Beta-Thalassemia Intermedia	Osteopenia, Abnormality of iron homeostasis, Extramedullary hematopoiesis, Persistence of hemoglo...	ORPHA:231222
Hall-Riggs Syndrome	Osteoporosis	OMIM:234250
Mandibuloacral Dysplasia With Type A Lipodystrophy	Limitation of joint mobility, Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Osteolyt...	ORPHA:90153
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Osteoporosis	OMIM:616006
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Autoimmunity, Hepatic ...	ORPHA:79086
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos...	OMIM:615758
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra...	OMIM:300554
Wiskott-Aldrich Syndrome	Increased circulating IgE level, Abnormal delayed hypersensitivity skin test, Lymphopenia, Decrea...	OMIM:301000
Seckel Syndrome 10	Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Glucose intoleran...	OMIM:617253
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Chronic oral candidiasis, Neu...	OMIM:150550
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis	OMIM:145001
Cranioectodermal Dysplasia	Osteoporosis, Craniosynostosis, Joint hypermobility	ORPHA:1515
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Osteogenesis Imperfecta, Type Xxii	Abnormal blood phosphate concentration, Thin bony cortex, Multiple prenatal fractures, Abnormal c...	OMIM:619795
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Ankylosis, Osteolysis	ORPHA:659
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Recurrent ...	ORPHA:436159
Fibrous Dysplasia Of Bone	Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Fibrous dysplasia of the bones...	ORPHA:249
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Calcinosis, Osteolytic defects of the ...	ORPHA:90154
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ...	OMIM:601495
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, R...	OMIM:614700
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Hypophosphatemic Bone Disease	Hypophosphatemia, Rickets, Osteomalacia	OMIM:146350
Congenital Syphilis	Pneumonia, Keratitis, Extramedullary hematopoiesis, Hypoglycemia, Hepatosplenomegaly, Synovitis, ...	ORPHA:499009
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoporosis, Synostosis of carpal bones, Limitation of joint mobility, Osteoarthritis	ORPHA:93351
Immunodeficiency 40	Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Reduced antigen-specific T c...	OMIM:616433
Tularemia	Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph...	ORPHA:3392
Pachydermoperiostosis	Limitation of joint mobility, Osteomyelitis, Abnormal cortical bone morphology, Splenomegaly, Art...	ORPHA:2796
Axial Osteomalacia	Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia	OMIM:109130
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Osteoporosis, Bone-marrow foam cells	OMIM:257200
Menkes Disease	Osteoporosis, Decreased circulating ceruloplasmin concentration, Joint hypermobility	OMIM:309400
Isolated Agammaglobulinemia	Pneumonia, Abnormal lymphocyte morphology, Autoimmunity, Otitis media, Skin rash, Inflammatory ab...	ORPHA:229717
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ...	OMIM:617780
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Hypop...	OMIM:241530
Glycogen Storage Disease Ib	Inflammation of the large intestine, Hypoglycemia, Gout, Splenomegaly, Pancreatitis, Neutropenia,...	OMIM:232220
Diffuse Cutaneous Systemic Sclerosis	Flexion contracture, Osteolysis, Arthritis	ORPHA:220393
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Type I diabetes mellitus, Type II diabetes mellitus, Hypothyroidism, Iridocyclitis, Pancreatitis	ORPHA:412057
Progressive Pseudorheumatoid Dysplasia	Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteopor...	OMIM:208230
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac...	OMIM:233710
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Hemochromatosis, Type 1	Osteoporosis, Increased circulating iron concentration, Splenomegaly, Increased circulating ferri...	OMIM:235200
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia, Recurrent bacterial infections	OMIM:619693
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ...	OMIM:612782
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Peroxisome Biogenesis Disorder 3B	Osteoporosis, Hypocholesterolemia, Elevated circulating phytanic acid concentration	OMIM:266510
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Hypomethioninemia, Hyperhomoc...	ORPHA:2169
Mixed Connective Tissue Disease	Leukopenia, Joint stiffness, Splenomegaly, Arthritis, Hemolytic anemia, Osteolysis	ORPHA:809
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE level, Lymphopenia,...	ORPHA:443811
Urban-Rogers-Meyer Syndrome	Osteoporosis, Recurrent fractures, Camptodactyly of finger, Flexion contracture of toe	ORPHA:3409
Porphyria, Congenital Erythropoietic	Osteopenia, Joint contracture of the hand, Pathologic fracture, Elevated circulating uroporphyrin...	OMIM:263700
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Unconjugated hyperbili...	ORPHA:232
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Recurrent Burkholderia cepac...	OMIM:233690
Caroli Syndrome	Intrahepatic cholestasis, Hypersplenism, Leukopenia, Leukocytosis, Portal hypertension, Congenita...	ORPHA:480520
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Reduced bone mineral density, Recurrent fractures	OMIM:620639
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega...	OMIM:620603
Familial Chylomicronemia Syndrome	Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Perianal abscess, Jaundice, Acute ...	ORPHA:444490
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Elbow flexion contracture, Knee flexion contracture, Camptodactyly...	OMIM:214150
Pyle Disease	Reduced bone mineral density, Limited elbow extension, Thin bony cortex	OMIM:265900
Osteogenesis Imperfecta, Type Xxi	Osteoporosis, Recurrent fractures, Joint hypermobility	OMIM:619131
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Type I diabetes mellitus, Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenom...	OMIM:615952
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Sapho Syndrome	Craniofacial osteosclerosis, Osteomyelitis, Recurrent fractures, Hyperostosis, Synovitis, Arthrit...	ORPHA:793
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Mast Cell Sarcoma	Mastocytosis, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy	ORPHA:66661
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Osteomalacia, Rick...	ORPHA:289176
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteoporosis, Osteopenia	OMIM:615830
Chromomycosis	Ankylosis, Osteolysis	ORPHA:182
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Osteogenesis Imperfecta, Type Xviii	Generalized osteoporosis, Recurrent fractures, Thin bony cortex, Joint hypermobility	OMIM:617952
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Hyperphosphatemia, Increased bone mineral density, Hyperuricemia, Hydroxyprolinemia, ...	OMIM:239000
Werner Syndrome	Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density, Hypertriglyceridemia	OMIM:277700
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Splenomegaly, Pancreatitis, Hepatomegaly, Vacuolated lympho...	ORPHA:565612
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia, Hip contracture, Osteolysis involving bones of the upper limbs, Thrombocytope...	ORPHA:464321
Immunodeficiency 12	Osteoporosis, Abnormal lymphocyte count	OMIM:615468
Leishmaniasis	Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant...	ORPHA:507
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Congenital Erythropoietic Porphyria	Osteopenia, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, Abnormal circulat...	ORPHA:79277
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Osteoporosis, Joint contracture, Hypertriglyceridemia	OMIM:615381
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Hereditary Orotic Aciduria	Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function	ORPHA:30
H Syndrome	Osteolysis, Microcytic anemia, Hepatosplenomegaly, Hypertriglyceridemia, Camptodactyly, Histiocyt...	ORPHA:168569
Immunodeficiency 68	Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ...	OMIM:612260
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Increased susceptibility to fractures	OMIM:615066
Bone Marrow Failure Syndrome 6	Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope...	OMIM:618849
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Rickets, Hypocalcemia, Sparse bone trabeculae, Hypophosphatemia,...	OMIM:264700
Classic Galactosemia	Osteoporosis, Abnormal erythrocyte enzyme concentration or activity, Reduced bone mineral density	ORPHA:79239
Pigmented Nodular Adrenocortical Disease, Primary, 2	Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level	OMIM:610475
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Osteomalacia, Leukocytosis, Increas...	ORPHA:289157
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Increased susceptibility to fra...	ORPHA:98849
Xp21 Deletion Syndrome	Elevated circulating creatine kinase concentration, Joint hypermobility, Hypertriglyceridemia, Os...	ORPHA:261476
Pseudohypoparathyroidism, Type Ia	Osteoporosis, Hypocalcemic tetany, Subcutaneous ossification, Hyperphosphatemia	OMIM:103580
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation, Recurrent upper respiratory tract infections, Decreased proportion o...	ORPHA:66628
Osteogenesis Imperfecta, Type Xiii	Recurrent fractures, Joint hypermobility, Limitation of knee mobility, Osteoporosis, Reduced bone...	OMIM:614856
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Type I diabetes mellitus, Hepatitis, Cholestasis, Hepatosplenom...	ORPHA:171
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Limitation of joint mobility, Hyperhomocystinemia, Osteoporosis, Generalized ...	OMIM:236200
Immunodeficiency 32A	Lymphadenitis, Granuloma, BCGitis, Lymphadenopathy, Recurrent infections	OMIM:614893
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Glycogen Storage Disease Ia	Hypoglycemia, Gout, Pancreatitis, Fasting hypoglycemia, Hepatomegaly, Hepatocellular carcinoma	OMIM:232200
3-Hydroxy-3-Methylglutaric Aciduria	Recurrent hypoglycemia, Leukopenia, Leukocytosis, Lipid accumulation in hepatocytes, Hepatomegaly...	ORPHA:20
Pseudohypoparathyroidism, Type Ic	Osteoporosis, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Pancreatitis	OMIM:145980
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Osteolysis, Liver abscess	ORPHA:678
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Abnormal leukocyte...	ORPHA:169105
Kaposiform Lymphangiomatosis	Fractures of the long bones, Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Thromb...	ORPHA:464329
Leukocyte Adhesion Deficiency, Type Iii	Sepsis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocy...	OMIM:612840
Nasu-Hakola Disease	Acute leukemia, Reduced bone mineral density, Limitation of joint mobility, Bone cyst	ORPHA:2770
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Osteopetrosis, Anemia, Hypocal...	OMIM:612301
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Hypophosphatemia,...	OMIM:300009
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hemophagocytosis, Increased circulating interf...	ORPHA:540
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia, Thin bony cor...	OMIM:277440
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteolytic defects of the phalanges of the hand, Arthri...	OMIM:259100
Immunodeficiency 7	Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemi...	OMIM:615387
Acth-Independent Macronodular Adrenal Hyperplasia 2	Osteoporosis	OMIM:615954
Obesity Due To Leptin Receptor Gene Deficiency	Decreased T cell activation, Recurrent upper respiratory tract infections, Decreased proportion o...	ORPHA:179494
Spondylo-Ocular Syndrome	Osteoporosis, Joint hypermobility	ORPHA:85194
Hypocalciuric Hypercalcemia, Familial, Type Ii	Pancreatitis, Primary hyperparathyroidism	OMIM:145981
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Leukopenia, Neutropenia, Thrombocytopenia, Osteoporosis	OMIM:613989
Diamond-Blackfan Anemia 7	Osteopenia, Increased mean corpuscular volume, Macrocytic anemia, Neutropenia, Osteoporosis	OMIM:612562
Amish Lethal Microcephaly	Osteoporosis, Limitation of joint mobility, Decreased skull ossification	ORPHA:99742
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Rickets, Osteomalacia, Joint stiffness, Joint hypermobility, Osteoporosis	ORPHA:1901
Spondyloepiphyseal Dysplasia, Maroteaux Type	Generalized osteoporosis, Small joint hypermobilty	OMIM:184095
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Reduced proportion...	ORPHA:90362
Rhyns Syndrome	Osteoporosis, Osteopenia	OMIM:602152
Gaucher Disease	Splenic infarction, Osteopenia, Osteolysis, Pathologic fracture, Osteomyelitis, Joint stiffness, ...	ORPHA:355
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Inc...	OMIM:617303
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Hypoglycemic seizures, Periodontitis, Hyp

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