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Gene: Nfkb2 MGI:1099800

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100

Synonyms:

p52, NF kappaB2

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 Nfkb2 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 Nfkb2 (3 diseases)
Human diseases predicted to be associated with Nfkb2 (1599 diseases)

The table below shows human diseases associated to Nfkb2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur...	OMIM:615577
Common Variable Immunodeficiency	Pneumonia, Bronchiectasis, Elevated circulating hepatic transaminase concentration, Emphysema, Ly...	ORPHA:1572
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Se...	ORPHA:293978

The table below shows human diseases predicted to be associated to Nfkb2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polyposis of gastric fundus without polyposis coli	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
B-Cell Expansion With Nfkb And T-Cell Anergy	Recurrent infections, Decreased specific antibody response to polysaccharide vaccine, Decreased c...	OMIM:616452
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop...	OMIM:617514
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr...	OMIM:609529
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial...	OMIM:613500
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir...	OMIM:614699
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Respiratory tract infection, Splenomegaly, Autoim...	ORPHA:444463
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno...	OMIM:607271
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func...	OMIM:240500
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Conjuncti...	OMIM:607594
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Lymphoma, Mucosa-Associated Lymphoid Type	Gastric lymphoma	OMIM:137245
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic an...	OMIM:619220
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells...	OMIM:619126
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Immunodeficiency 44	Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A...	OMIM:616636
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Agammaglob...	OMIM:300400
Histiocytosis, Familial Lipochrome	Recurrent infections, 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
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level	OMIM:619549
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacyt...	ORPHA:60026
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Recurrent infections	OMIM:606445
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Immunodeficiency 8 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent otitis media, Lymphopenia, Complete or ne...	OMIM:615401
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid derm...	ORPHA:98813
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Immunodeficiency 50	Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D...	OMIM:300988
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Immunodeficiency 104	Pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Sple...	OMIM:608971
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr...	OMIM:301082
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Thrombocyt...	OMIM:619281
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem...	OMIM:618982
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, Common Variable, 4	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,...	OMIM:613494
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Joint stiffness, Splenomegaly, Joint hy...	OMIM:620210
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent infections, Decreased circulating IgG level, Decreased lymphocyte proliferation in resp...	ORPHA:169160
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ...	OMIM:601859
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
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
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep...	OMIM:615285
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Severe varicella zoster infection, Recurrent otitis media, Decreased circu...	ORPHA:397596
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Pancytop...	OMIM:618394
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Abnormal B cell count, Hepatomegaly, Decreased ly...	ORPHA:331206
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat...	OMIM:618459
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ...	OMIM:616941
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Phaeohyphomycosis, Abn...	OMIM:212050
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo...	OMIM:615206
Immunodeficiency 25	Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n...	OMIM:610163
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph...	OMIM:619164
Immunodeficiency 27A	Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy,...	OMIM:209950
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu...	OMIM:613501
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy...	OMIM:617241
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Absen...	ORPHA:277
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Immunoglobulin A Deficiency 1	Recurrent infections, Decreased circulating IgA level, Recurrent infection of the gastrointestina...	OMIM:137100
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi...	ORPHA:436159
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ...	OMIM:308230
Immunodeficiency 15B	Reduced natural killer cell count, Monocytosis	OMIM:615592
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tr...	OMIM:614069
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ...	OMIM:300635
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe...	ORPHA:2688
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade...	ORPHA:100024
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa...	OMIM:606367
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:603909
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia	OMIM:618108
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increase...	ORPHA:37748
Immune Deficiency, Familial Variable	Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r...	OMIM:619773
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent infections, Leukemia, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Fol...	OMIM:614470
Immunodeficiency 92	Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res...	OMIM:619652
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level, Recurrent respiratory infections	OMIM:137050
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Recurrent upper respiratory tract infections,...	OMIM:618944
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity, Autoimmune hemolytic anemia, Splen...	OMIM:618495
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections	OMIM:610798
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco...	OMIM:618048
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia	OMIM:615085
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec...	ORPHA:169154
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Recurrent lower respirat...	OMIM:300755
Autoimmune Lymphoproliferative Syndrome	Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea...	ORPHA:3261
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p...	ORPHA:331235
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ...	ORPHA:275
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, T lymphocytopenia, Recurrent bacterial infections, Throm...	ORPHA:169079
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti...	OMIM:608184
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Decreased circulating IgG level, Recurrent pneumonia, Decrea...	OMIM:612301
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Abnormal pulmonary interstitial m...	OMIM:613101
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th...	OMIM:102700
Kimura Disease	Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Immunodeficiency, Common Variable, 13	Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio...	OMIM:616873
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Increased b...	OMIM:611490
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Lymphadenopathy, Arthritis	OMIM:617772
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Extramedullary hematopoiesis, Cranial hyperostosis, Osteomyelitis, Hepa...	OMIM:259710
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent upper respiratory t...	OMIM:619752
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level	OMIM:247800
Macrophage Activation Syndrome	Hemophagocytosis, Systemic lupus erythematosus, Elevated circulating alanine aminotransferase con...	ORPHA:158061
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
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 9	Decreased circulating IgG level, BCGitis, Lymphopenia, Decreased circulating IgA level, Hypoplasi...	OMIM:612782
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Abno...	ORPHA:2585
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Decreased proportion of class-switched memory B c...	OMIM:614878
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Anti-glutamic acid decarboxyla...	OMIM:304790
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De...	OMIM:616098
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com...	OMIM:301081
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy, Osteolysis	ORPHA:158014
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ...	OMIM:615122
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopathy, Anemia	ORPHA:100025
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Antineutrophil antibody positivity,...	OMIM:301078
Osteopetrosis, Autosomal Dominant 2	Bone marrow hypocellularity, Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long ...	OMIM:166600
X-Linked Agammaglobulinemia	Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Conjunctivitis, Osteomyelitis, Autoimmu...	ORPHA:47
Immunodeficiency 51	Pneumonia, Folliculitis, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocutaneous candidia...	OMIM:613953
Osteopetrosis, Autosomal Recessive 1	Increased circulating lactate dehydrogenase concentration, Pathologic fracture, Osteomyelitis, Pa...	OMIM:259700
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent pneumonia, Cutaneous abscess, Chronic mucocutaneous candidiasis, Methicillin-resistant ...	OMIM:618282
Immunodeficiency 46	Sepsis, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Anemia, Mening...	OMIM:616740
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig...	ORPHA:83313
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac...	OMIM:602450
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Increased circulating IgE level, Decrease...	OMIM:615767
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp...	ORPHA:824
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Hypersplenism, Pancytopenia, Portal hypertension, Splenomegaly, Limited elbow extensio...	OMIM:613385
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur...	OMIM:193670
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Skin rash, Splenomegaly, Jaundice, Anemia, Lymphadenopathy, Neutropenia, Thromb...	OMIM:603552
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 22	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat...	OMIM:615758
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Recurrent viral infections, Intestinal lymphangiectasia, Splenom...	OMIM:620632
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Lupus anticoagulant, Antiphospholipid a...	ORPHA:781
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymph...	ORPHA:90362
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Recurrent pharyngitis, Hepatom...	ORPHA:42642
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Abnormal circulating I...	OMIM:620376
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Macronodular cirrhosis, Decreased circulating IgA level, Abnormal T cell morphology	OMIM:215250
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp...	OMIM:617099
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Auto...	ORPHA:83471
Burkitt Lymphoma	Increased circulating lactate dehydrogenase concentration, Abnormal lymph node morphology, Abnorm...	ORPHA:543
Immunodeficiency 43	Reduced natural killer cell count, Lung abscess, B lymphocytopenia	OMIM:241600
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,...	OMIM:611762
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil...	OMIM:617638
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria...	OMIM:300310
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Hip contr...	ORPHA:353298
Autoimmune Hepatitis	Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone...	ORPHA:2137
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Neutrophilia, Hereditary	Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia	OMIM:162830
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:209004
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Rheumatoid factor positive, Lymphopenia, Leukopenia, Joint stiffness, Malar rash, ...	OMIM:615934
Autoimmune Polyendocrinopathy Type 4	Rheumatoid arthritis, Xerostomia, Antiphospholipid antibody positivity, Iridocyclitis, Tubulointe...	ORPHA:227990
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ...	ORPHA:507
Reticular Dysgenesis	Sepsis, Aplasia/Hypoplasia of the thymus, Recurrent respiratory infections, Leukopenia, Anemia, A...	ORPHA:33355
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
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
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco...	ORPHA:911
Follicular Lymphoma	Pleural effusion, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymp...	ORPHA:545
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Indolent Systemic Mastocytosis	Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega...	ORPHA:98848
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Osteomalacia, Recurrent otitis media, Follicular ...	OMIM:619381
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Osteopetrosis, Splenomegaly	OMIM:618541
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly	OMIM:609981
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Antiphospholipid antibody positi...	ORPHA:227982
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps...	ORPHA:183675
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema...	OMIM:617006
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Extramedullary hematopoiesis, Cranial hyperostosis, Ascites, Hepatosplenomegaly,...	OMIM:259720
Immunodeficiency 32B	Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Hepatomegaly, ...	OMIM:226990
Reticular Dysgenesis	Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosi...	OMIM:267500
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph...	ORPHA:54251
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Increased circulating IgE level, Recurrent otitis media, Decreased proportion ...	OMIM:243700
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:616050
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Legionnaires Disease	Bone marrow hypocellularity, Abnormal lung morphology, Hepatitis, Lymphopenia, Abnormal pleura mo...	ORPHA:549
Congenital Disorder Of Glycosylation, Type Iir	Micronodular cirrhosis, Hepatic steatosis, Decreased proportion of CD4-positive T cells, Hepatome...	OMIM:301045
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgE level, Recurr...	ORPHA:217390
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia...	ORPHA:572
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Recurrent respiratory infectio...	OMIM:618116
Felty Syndrome	Limitation of joint mobility, Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chroni...	ORPHA:47612
Immunodeficiency 7	Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenop...	OMIM:615387
Adult-Onset Still Disease	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ...	ORPHA:829
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Melioidosis	Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit...	ORPHA:31202
Pleural Mesothelioma	Abnormal pleura morphology, Pleural effusion, Lymphadenopathy, Hepatomegaly, Abnormal lung morpho...	ORPHA:50251
Immunodeficiency 27B	Osteomyelitis, Generalized lymphadenopathy, Salmonella osteomyelitis	OMIM:615978
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
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat...	OMIM:617744
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia	OMIM:620133
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur...	OMIM:615577
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity	OMIM:182410
Isolated Agammaglobulinemia	Pneumonia, Recurrent respiratory infections, Abnormal lymphocyte morphology, Autoimmunity, Otitis...	ORPHA:229717
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Hy...	ORPHA:848
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Congenital pulmonary airway malformation, Lymphopenia, Psoriasiform dermatitis, Leukocytosis, Aut...	OMIM:243150
Sézary Syndrome	Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegaly, Abnormal immunoglobulin...	ORPHA:3162
Common Variable Immunodeficiency	Pneumonia, Bronchiectasis, Elevated circulating hepatic transaminase concentration, Emphysema, Ly...	ORPHA:1572
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Granuloma, Eczemat...	OMIM:618935
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Chronic bronchitis...	OMIM:242860
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:611521
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology, Recurrent otitis media, Agammaglobulinemia, Recurrent infections, Dec...	OMIM:616910
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Pulmonary hemorrhage, A...	ORPHA:79124
Mycosis Fungoides	Eczematoid dermatitis, Psoriasiform dermatitis, Lymphadenopathy	OMIM:254400
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating IgE level, Lymphopenia,...	OMIM:620603
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatit...	OMIM:620565
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Immunodeficiency 23	Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf...	OMIM:615816
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Osteopetrosis, Anemia, Di...	OMIM:259730
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure	ORPHA:46532
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Splenomegaly, Aplasia/Hypoplasia of the lungs, Hepatomegaly, I...	ORPHA:2204
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Antineutrophil antibody positivity, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancyto...	ORPHA:228426
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic...	OMIM:615952
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Recurrent upper respiratory...	OMIM:613179
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Pathologic fracture, Acute he...	ORPHA:905
Aggressive Systemic Mastocytosis	Elevated total serum tryptase, Decreased liver function, Pathologic fracture, Ascites, Hepatosple...	ORPHA:98850
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Decreased circulating IgG level, El...	OMIM:620005
Bloom Syndrome	Abscess, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemia, Oligozoospermia, Pr...	ORPHA:125
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Cirrho...	OMIM:613490
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop...	OMIM:254450
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent ...	OMIM:300636
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocyti...	OMIM:617780
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Skin rash, Lymphadenopathy, Hyperhidrosis, Hepatomegal...	ORPHA:391
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Skin rash, In...	OMIM:617591
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Lympho...	ORPHA:100
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia	OMIM:608898
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Hypothyroidism, Lymphadenopathy, Decr...	OMIM:619750
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratitis, Antinuclear ant...	OMIM:617388
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia...	OMIM:275350
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decreas...	OMIM:613327
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ...	ORPHA:540
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Sinusitis, Arthritis, Ne...	ORPHA:33110
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Elevated circulating alkaline phosp...	OMIM:620366
Diffuse Gastric And Lobular Breast Cancer Syndrome	Atrophic gastritis, Stomach cancer, Cleft palate	OMIM:137215
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurrent sinopulmonary in...	OMIM:616576
Classic Mycosis Fungoides	Eczematoid dermatitis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Lymphadenopathy, ...	ORPHA:2584
Omenn Syndrome	Pneumonia, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly, Hepatomegaly...	ORPHA:39041
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Castleman Disease	Myelofibrosis, Increased circulating interleukin 6 concentration, Follicular hyperplasia, Intesti...	ORPHA:160
Mogs-Cdg	Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Cardiomegal...	ORPHA:79330
Graft Versus Host Disease	Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Elevated circulating ...	ORPHA:39812
Congenital Syphilis	Pneumonia, Periostitis, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged ne...	ORPHA:499009
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Mediastinal lymphadenopathy, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion	OMIM:234810
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Autoimmune hemolytic anemia, ...	ORPHA:100026
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ...	OMIM:601495
Systemic-Onset Juvenile Idiopathic Arthritis	Pleural effusion, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Juvenile rhe...	ORPHA:85414
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Otitis media, Chronic rhinitis, Hepatomegaly, Pulmonary artery stenosis, Osteopetro...	ORPHA:667
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Trimethylaminuria	Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Increased circulating lactate dehydrogenase concentration...	OMIM:614034
Cryoglobulinemic Vasculitis	Abnormality of the liver, Splenomegaly, Cryoglobulinemia, Keratoconjunctivitis sicca, Circulating...	ORPHA:91138
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati...	OMIM:619644
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic tra...	OMIM:607765
Pseudomyxoma Peritonei	Inflammation of the large intestine, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto...	OMIM:615607
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial ...	ORPHA:133
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Increased circulating I...	OMIM:260920
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Anemia, Uv...	OMIM:607115
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Decreased acid sphingomyelinase activity, Thr...	OMIM:607616
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec...	ORPHA:221139
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Omenn Syndrome	Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadeno...	OMIM:603554
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circulating inter...	ORPHA:391487
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:139406
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe...	ORPHA:289390
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, ...	ORPHA:2686
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
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
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion...	ORPHA:1163
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Elevated circulating aspartate aminotransfera...	OMIM:257200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Mirage Syndrome	Gastroesophageal reflux, Radial club hand, Lymphopenia, Leukopenia, Decreased testicular size, Cr...	OMIM:617053
Papa Syndrome	Crohn's disease, Increased inflammatory response, Myositis, Pustule, Lymphadenopathy, Arthritis, ...	ORPHA:69126
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia, Recurrent bacterial infections	OMIM:619693
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Sclerosis of foot bon...	ORPHA:2905
Xq28 (MECP2) duplication	Decreased circulating IgA level, Recurrent respiratory infections	DECIPHER:45
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration...	ORPHA:186
Desmosterolosis	Increased bone mineral density, Osteopetrosis, Splenomegaly, Anomalous pulmonary venous return	ORPHA:35107
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent skin infections, Abnormal leukocyte morpholo...	ORPHA:169105
Complement Component C1S Deficiency	Hashimoto thyroiditis, Abnormality of complement system, Hepatitis, Systemic lupus erythematosus	OMIM:613783
Sarcoidosis, Susceptibility To, 2	Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema no...	OMIM:612387
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho...	ORPHA:402823
Angiostrongyliasis	Unusual CNS infection, Hypereosinophilia, Increased circulating specific IgE antibody, Increased ...	ORPHA:74
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 8 concentration, Increased circulating interleukin 6 concentrat...	OMIM:620514
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Bronchitis, Decreased circulatin...	ORPHA:420741
Ghosal Hematodiaphyseal Dysplasia	Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly	ORPHA:1802
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T...	ORPHA:294
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Tafro Syndrome	Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Leukocytosis, Splenomegaly...	ORPHA:457077
Immunodeficiency 31C	Osteopenia, Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Ch...	OMIM:614162
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Hepatomegaly, Lym...	ORPHA:858
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl...	OMIM:300291
Aicardi-Goutieres Syndrome 6	Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,...	OMIM:615010
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Dysphagia	ORPHA:89844
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Decreased circulating IgA level, Anemia, Decreased circulating t...	OMIM:620040
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Decreased response to growth hormone ...	OMIM:307200
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Splenomegaly, Joint hypermobility, Hepatomegaly, Decreased c...	OMIM:605309
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Lupus anticoagulant...	ORPHA:93552
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Secondary hyperparathyroidism, Abnormal ci...	ORPHA:2785
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia, Recurrent viral infections, Recurrent respiratory ...	OMIM:620532
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, R...	ORPHA:79303
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Skin rash, Thromb...	OMIM:618963
Sandhoff Disease	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:796
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Pancytopenia, Splenomegaly, Hepatic ...	OMIM:615846
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Hip contracture...	OMIM:616651
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Skin rash, Splenomegaly	OMIM:619175
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ...	ORPHA:589
Celiac Disease, Susceptibility To, 1	Elevated circulating hepatic transaminase concentration, Rickets, Eczematoid dermatitis, Infertil...	OMIM:212750
Intermediate Osteopetrosis	Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Recurrent fractures, Increased susceptibil...	ORPHA:210110
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Neutropenia	OMIM:617827
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Extramedullary hematopoie...	ORPHA:313855
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Lupus anticoagulant, Eryth...	OMIM:615688
Zika Virus Disease	Meningitis, Increased circulating IgM level, Thrombocytopenia, Infectious encephalitis	ORPHA:448237
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy, Neoplasm of the lung	ORPHA:654
Pulmonary Non-Tuberculous Mycobacterial Infection	Bronchiectasis, Pleural effusion, Lymphadenopathy, Pneumothorax	ORPHA:411703
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Increased suscep...	ORPHA:77297
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Mucopolysaccharidosis-Plus Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Leuko...	OMIM:617303
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Cystic Echinococcosis	Peritoneal abscess, Elevated gamma-glutamyltransferase level, Pulmonary cyst, Abscess, Ovarian cy...	ORPHA:400
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis	OMIM:614379
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis	OMIM:619183
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Multiple Myeloma	Osteopenia, Pathologic fracture, Pleural effusion, Splenomegaly, Increased circulating IgA level,...	ORPHA:29073
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Polysplenia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis...	OMIM:615482
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Whim Syndrome	Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Atel...	ORPHA:51636
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Inflammatory abnormality of the eye, Lymphadenopathy, A...	ORPHA:1451
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Systemic lupus erythematosus, Elevated circulating as...	OMIM:170100
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
Immunoglobulin Kappa Light Chain Deficiency	Recurrent infections, Absent circulating immunoglobulin kappa chain, Recurrent respiratory infect...	OMIM:614102
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome...	ORPHA:1304
Immunodeficiency 56	Recurrent pneumonia, Pneumocystis jirovecii pneumonia, Recurrent respiratory infections, Panhypog...	OMIM:615207
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Increased circulating lactate dehydrogenase concentration, Acute monocytic le...	ORPHA:514
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:610377
Babesiosis	Hepatic failure, Limitation of joint mobility, Leukopenia, Splenomegaly, Hyperhidrosis, Thrombocy...	ORPHA:108
Mccune-Albright Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia...	ORPHA:562
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Gaucher Disease Type 1	Hepatosplenomegaly, Hypersplenism, Pancytopenia, Increased circulating antibody level, Cirrhosis,...	ORPHA:77259
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level	OMIM:615190
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Thrombocytopenia, Cryptorchidism, Wide anterior fontanel	OMIM:616638
Gaucher Disease	Pancytopenia, Increased circulating antibody level, Cirrhosis, Polyclonal elevation of IgM, Hepat...	ORPHA:355
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Decreased proportion of CD8-positive T cells, Lymphopenia, A...	OMIM:301000
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Alopecia, Dystrophic toenail, Sparse body hair, Furrowed tongue, Apla...	ORPHA:2930
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Reduced bone mineral density	ORPHA:172
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Macul...	ORPHA:319218
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Reduced natural killer...	OMIM:603553
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233690
Immunodeficiency 12	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Complete ...	OMIM:615468
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Recurrent otitis media, Eosinophilia, Recurrent respiratory infe...	OMIM:618523
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Usual interstitial pneumonia, Reticular pattern on pulmonary HRCT, A...	OMIM:614742
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor...	ORPHA:2494
Diffuse Cutaneous Mastocytosis	Elevated total serum tryptase, Abnormality of the spleen, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Congenital Disorder Of Glycosylation, Type Ik	Hypogonadism, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture	OMIM:608540
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
Gracile Bone Dysplasia	Failure to thrive, Ankyloglossia, Decreased skull ossification, Asplenia, Hypoplastic spleen	OMIM:602361
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hepatic fibrosis, Decreased circulating IgG level, Elevated circulating hepatic trans...	OMIM:212065
Immunodeficiency 77	Bronchiectasis, Recurrent tonsillitis, Cutaneous abscess	OMIM:619223
Proteus Syndrome	Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Thin bony cortex, Calvarial hyperosto...	OMIM:176920
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni...	OMIM:607944
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy, Neoplasm of the lung	ORPHA:424019
Gray Platelet Syndrome	Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia	ORPHA:721
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Abnormal circulating lactate dehydrogenase concentration, Autoimmuni...	ORPHA:98827
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	ORPHA:79301
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypogonadism, Splenome...	OMIM:613313
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Desmoplastic Small Round Cell Tumor	Anemia, Lymphadenopathy, Abnormal peritoneum morphology, Hepatomegaly, Mediastinal lymphadenopath...	ORPHA:83469
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Recurrent fractures, Splenomegaly	ORPHA:417
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy...	ORPHA:158029
Tyrosinemia Type 1	Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepatomegaly, Hepatocellular car...	ORPHA:882
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc...	ORPHA:263665
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anhidrosis, Hepatomegal...	ORPHA:169090
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof...	OMIM:231095
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Xerostomia, Leukopenia, Joint stiffness, Autoimmunity, Splenomegaly,...	ORPHA:809
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Splenomegaly, Lipogranulomatosis, Decreased acid ceramida...	OMIM:228000
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Eleva...	ORPHA:562639
Infantile Sialic Acid Storage Disease	Osteopenia, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes	OMIM:269920
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Weight loss, Splenomegaly	ORPHA:79238
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Anemia, Hep...	OMIM:620296
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Recurrent infections, Panhypogammaglobulinemia	ORPHA:251009
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Wolman Disease	Hepatomegaly, Reduced lysosomal acid lipase activity, Splenomegaly, Acute hepatic failure	OMIM:620151
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Decreased circulatin...	OMIM:610199
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Elevated total serum tryptase, Chronic myelomonocytic leukemia, Leukocytosis, ...	ORPHA:98849
Lambert Syndrome	Cholestasis, Jaundice, Intrahepatic biliary atresia, Decreased circulating antibody level	ORPHA:1296
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Secondary hyperaldosteronism, Lymphopenia, Decreased circulatin...	ORPHA:90363
Bloom Syndrome	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat...	OMIM:210900
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate...	OMIM:620010
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Hypocomplementemic Urticarial Vasculitis	Ascites, Reduced circulating complement concentration, Emphysema, Autoimmunity, Episcleritis, Spl...	ORPHA:36412
Neuronal Intestinal Pseudoobstruction	Recurrent infections, Decreased circulating antibody level	ORPHA:99811
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Mucopolysaccharidosis Type 7	Hepatitis, Ascites, Joint stiffness, Epiphyseal stippling, Abnormal pleura morphology, Splenomega...	ORPHA:584
Chilblain Lupus	Chronic myelomonocytic leukemia, Increased circulating antibody level	ORPHA:90280
Refractory Celiac Disease	Normocytic anemia, Protein-losing enteropathy, Jejunitis, Microcytic anemia, Abnormal spleen phys...	ORPHA:398063
Galactosemia Iii	Hepatomegaly, Jaundice, Splenomegaly, Decreased beta-galactosidase activity	OMIM:230350
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:508533
Hereditary Folate Malabsorption	Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocyto...	ORPHA:90045
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev...	ORPHA:449432
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Bronchitis, Hepatitis, Emphysema, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice...	ORPHA:60
Spondylometaphyseal Dysplasia, Axial	Recurrent pneumonia, Splenomegaly, Reduced sperm motility	OMIM:602271
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Icf Syndrome	Recurrent respiratory infections, Lymphopenia, Anemia, Abnormality of neutrophils, Decreased circ...	ORPHA:2268
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Atelect...	OMIM:306400
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu...	OMIM:616871
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro...	ORPHA:3260
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Ascite...	OMIM:617021
Hyperimmunoglobulinemia D With Periodic Fever	Limitation of joint mobility, Recurrent aphthous stomatitis, Peritonitis, Increased circulating I...	ORPHA:343
Lassa Fever	Jaundice, Increased circulating IgM level, Sepsis	ORPHA:99824
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoc...	OMIM:269200
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly dermal neutro...	ORPHA:293173
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Gaucher Disease Type 3	Abnormal pulmonary interstitial morphology, Pancytopenia, Splenomegaly, Increased susceptibility ...	ORPHA:77261
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hyperparathyroidism, Splenomegaly, Hepatomegaly, Anemia, Recurrent fractures	OMIM:618107
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Coccidioidomycosis	Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Pleural empyema, Follicu...	ORPHA:228123
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficiency anemia, Hypothyroidism, Throm...	OMIM:226300
Gaucher Disease Type 2	Hepatomegaly, Flexion contracture, Splenomegaly, Recurrent respiratory infections	ORPHA:77260
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis	ORPHA:2978
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Thyroid Lymphoma	Hashimoto thyroiditis, Lymphadenopathy	ORPHA:97285
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat...	OMIM:278000
Rasmussen Subacute Encephalitis	Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat...	ORPHA:1929
Hepatoportal Sclerosis	Anticardiolipin IgG antibody positivity, Nodular regenerative hyperplasia of liver, Periportal fi...	ORPHA:64743
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Osteopenia, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequ...	OMIM:612714
Fusariosis	Pneumonia, Granuloma, Brain abscess, Keratitis, Fasciitis, Abnormality of the spleen, Lymphopenia...	ORPHA:228119
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody...	OMIM:620321
Systemic Lupus Erythematosus 17	Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Lymphopenia, Leukop...	OMIM:301080
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Cervica...	OMIM:617718
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Skin rash, Generalized lymphadenopathy, Abno...	ORPHA:33276
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Female hypogonadism, Male hypogonadism, Chronic mucocutaneous...	OMIM:240300
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Rhabdoid Tumor	Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia	ORPHA:69077
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat...	OMIM:616433
Interstitial Lung Disease 2	Cirrhosis, Increased circulating antibody level	OMIM:178500
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal...	OMIM:214500
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Recurrent infections, Transient hypogammaglobulinemia of infancy	OMIM:251240
Hemochromatosis, Type 2A	Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Arthritis, Hepat...	OMIM:602390
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr...	ORPHA:91139
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Periodic Fever, Familial, Autosomal Dominant	Erysipelas, Hepatic amyloidosis, Cervical lymphadenopathy, Skin rash, Myositis, Oligoarthritis, H...	OMIM:142680
Cholestasis, Progressive Familial Intrahepatic, 10	Elevated gamma-glutamyltransferase level, Portal fibrosis, Elevated circulating aspartate aminotr...	OMIM:619868
Tempi Syndrome	Increased hematocrit, Polycythemia, Increased circulating IgG level	ORPHA:284227
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Neoplasm of the lung	ORPHA:1332
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis	OMIM:619398
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno...	OMIM:610333
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Zygomycosis	Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Pleural effusion, Peritonitis, En...	ORPHA:73263
Acute Promyelocytic Leukemia	Diffuse alveolar hemorrhage, Leukopenia, Pancytopenia, Leukocytosis, Metrorrhagia, Lymphadenopath...	ORPHA:520
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal mesentery morphology, In...	ORPHA:449395
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:612126
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
X-Linked Sideroblastic Anemia	Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:75563
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h...	ORPHA:79126
Scrub Typhus	Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocarditis, Anterior uveitis	ORPHA:83317
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal...	OMIM:616622
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent ...	OMIM:613807
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Osteopenia, Antineutrophil antibody positivity, Aplastic anemia, Periodontitis, Lympho...	ORPHA:486
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Rickets, Osteomalacia, Leukocytosis, Splenom...	ORPHA:289157
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Splenomegaly, Ascites, Aplasia/Hypoplasia of the lungs	ORPHA:1046
Avian Influenza	Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:454836
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development	Hiatus hernia	OMIM:272000
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Pleural effusion, Splenomegaly, Hepat...	ORPHA:33226
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Hurler-Scheie Syndrome	Limitation of joint mobility, Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Rhinitis	ORPHA:93476
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Pustule, Neutropenia, Hepatomegaly, Increased circulating lactate...	ORPHA:50918
Coproporphyria, Hereditary	Hepatomegaly, Jaundice, Splenomegaly	OMIM:121300
Congenital Enterovirus Infection	Fetal ascites, Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrop...	ORPHA:292
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis	ORPHA:3318
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Se...	ORPHA:293978
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Pituitary adenoma, Hepatitis, Graves disease, Adrenocorticotropin deficient ad...	ORPHA:199299
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Recurrent infections, Increased circulating IgA level, Neutropenia	OMIM:616395
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy	ORPHA:2483
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati...	OMIM:614576
American Trypanosomiasis	Skin rash, Splenomegaly, Infectious encephalitis, Hepatomegaly, Lymphadenopathy, Myocarditis	ORPHA:3386
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast...	OMIM:619079
Vici Syndrome	Decreased circulating IgG level, Cutaneous anergy, Albinism, Abnormal posturing, Failure to thriv...	OMIM:242840
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Inflammatory Pseudotumor Of The Liver	Biliary tract abnormality, Increased hepatitis B virus antibody level, Neoplasm of the liver, Cir...	ORPHA:90003
Wolman Disease	Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-marrow foam cells, Esophageal varix, Steatorrhea	ORPHA:75233
Alveolar Echinococcosis	Pulmonary cyst, Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesenter...	ORPHA:284
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom...	OMIM:613470
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Decreased circulating IgG2 level	ORPHA:2571
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level	OMIM:615872
Immunodeficiency 59 And Hypoglycemia	Recurrent upper respiratory tract infections, Sepsis, Herpes simplex encephalitis, Prolonged neon...	OMIM:233600
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Abnormal salivary gland morphology, Increased circulating I...	ORPHA:79078
Hennekam Syndrome	Chylothorax, Erysipelas, Camptodactyly of finger, Ascites, Lymphopenia, Decreased circulating ant...	ORPHA:2136
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d...	OMIM:214900
Rift Valley Fever	Hepatitis, Severe viral infection, Infectious encephalitis, Jaundice, Thrombocytopenia, Anemia, I...	ORPHA:319251
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Neuraminidase Deficiency	Ascites, Epiphyseal stippling, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, ...	OMIM:256550
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Hypothyroidism, Lymphadenopathy, Hepa...	ORPHA:99812
Thrombocytopenia, Anemia, And Myelofibrosis	Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis	OMIM:617441
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leukocytosis, Splenomegaly, Portal hyp...	ORPHA:729
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Recurrent pneumonia, Splenomegaly	OMIM:615637
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Decreased circulating IgG level, Bone marrow hypocellularity, Sepsis, Hepatosplenomegaly, Leukope...	ORPHA:505248
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced...	OMIM:224100
H Syndrome	Bronchiectasis, Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Recurrent fract...	ORPHA:168569
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection...	OMIM:607143
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Infectious encephalitis, Hepatomegaly, Lymphadenopath...	OMIM:267700
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Inc...	OMIM:256040
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato...	ORPHA:99867
Sialidosis Type 2	Ascites, Splenomegaly, Hepatomegaly, Osteoporosis, Flexion contracture	ORPHA:87876
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Decreased circulating alpha-mannosidase activity, Reduced leukocyte alpha-mannosida...	OMIM:248500
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-...	ORPHA:1876
Spondyloenchondrodysplasia	Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Decreased response to growth hormo...	ORPHA:1855
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Pearson Syndrome	Bone marrow hypocellularity, Exocrine pancreatic insufficiency, Decreased response to growth horm...	ORPHA:699
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros...	OMIM:607634
Ciliary Dyskinesia, Primary, 1	Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis...	OMIM:244400
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	OMIM:615895
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:616278
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm...	ORPHA:2198
Malt Lymphoma	Posterior uveitis, Lymphadenopathy, Anemia, Recurrent respiratory infections, Mediastinal lymphad...	ORPHA:52417
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt...	ORPHA:398124
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Iga Pemphigus	Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous...	ORPHA:555905
Igg4-Related Ophthalmic Disease	Neoplasm of the lung, Keratitis, Increased circulating IgE level, Increased circulating IgG4 leve...	ORPHA:449563
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated ...	OMIM:613489
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Pneumocystosis	Abnormal neutrophil count, Pneumocystis jirovecii pneumonia, Chronic oral candidiasis, Increased ...	ORPHA:723
Chronic Granulomatous Disease	Abnormality of neutrophils, Eczematoid dermatitis, Splenomegaly, Otitis media, Hepatomegaly, Sinu...	ORPHA:379
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Pancytopenia, Autoimmunity, Splenomegaly, Anemia, Panniculitis	OMIM:618398
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Ascites, Azoospermia, Pleural effusion, ...	OMIM:235200
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Gastroesophageal reflux, Abnormal posturing, Failure to thrive, Cryptorchidism, Thrombocytopenia,...	OMIM:614857
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Eosinophilic Gastroenteritis	Protein-losing enteropathy, Hematochezia, Leukocytosis, Eosinophilia, Abnormality of the gastroin...	ORPHA:2070
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Bone Marrow Failure Syndrome 5	Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level	OMIM:618165
Alg12-Cdg	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Abnormal circulatin...	ORPHA:79324
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil antibod...	ORPHA:464370
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo...	OMIM:615234
Atelis Syndrome 1	Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Leukopenia, Gl...	OMIM:620184
Esophageal Ring, Lower	Hiatus hernia, Dysphagia	OMIM:133240
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Free Sialic Acid Storage Disease	Ascites, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Reduced bone mineral density	ORPHA:834
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Abnormal lymph node morphology, Hypogonadism, Hepatosplenomegaly, Hepat...	ORPHA:85450
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Pulmon...	ORPHA:199241
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Thrombocytopenia, Hepatomegaly	OMIM:231000
Lymphatic Filariasis	Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Knee osteoarthritis, Orchi...	ORPHA:2035
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Flexion co...	ORPHA:85212
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Inflammation of the large intestine, Abnormal pulmonary interstitial mo...	OMIM:181000
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Gastrointestin...	OMIM:617341
Idiopathic Achalasia	Gastroesophageal reflux, Dysphagia, Weight loss	ORPHA:930
Tick-Borne Encephalitis	Unusual CNS infection, Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thr...	ORPHA:297
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Recurrent ...	OMIM:620233
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T...	ORPHA:158048
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Psoriasiform dermatitis,...	ORPHA:436252
Kawasaki Disease	Hepatitis, Conjunctivitis, Abnormal pulmonary interstitial morphology, Cervical lymphadenopathy, ...	ORPHA:2331
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Abnormality of the gastrointest...	ORPHA:2902
Sweet Syndrome	Inflammation of the large intestine, Abnormal circulating interleukin concentration, Increased ci...	ORPHA:3243
Systemic Lupus Erythematosus	Discoid lupus rash, Cheilitis, Antineutrophil antibody positivity, Leukopenia, Malar rash, Anti-S...	ORPHA:536
Netherton Syndrome	Decreased circulating IgG level, Sepsis, Increased circulating IgE level, Recurrent infection of ...	OMIM:256500
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Agammaglobulinemia, Anemia, Recurrent respiratory infections, Abnormality of the pan...	ORPHA:935
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Cholelithiasis, Pulmonary hypoplasia, Pancreatic hypoplasia, Eczematoid...	ORPHA:83617
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Hepatitis	ORPHA:363523
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Graves disease, Keratitis, Goiter, Autoi...	ORPHA:525731
Hereditary Orotic Aciduria	Anemia, Recurrent respiratory infections, Splenomegaly, Impaired T cell function	ORPHA:30
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Congenital Rubella Syndrome	Splenomegaly, Skin rash, Abnormality of the pulmonary artery, Hepatomegaly, Thrombocytopenia, Ane...	ORPHA:290
Acquired Hypertrichosis Lanuginosa	Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Lymphadenopathy, Macr...	ORPHA:2221
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Skin rash, Splenomegaly	OMIM:105200
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Annular pancreas, Eczematoid dermatitis, Elbow contracture, Sclerosis of skull...	OMIM:618162
Bronchial Neuroendocrine Tumor	Pneumonia, Hepatic failure, Chronic noninfectious lymphadenopathy, Hepatomegaly, Abnormal pulmona...	ORPHA:97287
Cryptococcosis	Pneumonia, Systemic lupus erythematosus, Osteomyelitis, Autoimmunity, Pleural effusion, Nodular p...	ORPHA:1546
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Increas...	ORPHA:167
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Myositis, Perito...	ORPHA:32960
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Atelectasis, Hepatocellular necrosis, Pulmonary fibrosis, Hepato...	OMIM:618278
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Primary amenorrhea, Hepatomegaly	OMIM:612526
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Neoplasm of the lung	ORPHA:142
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Chronic noninfectious lymphaden...	ORPHA:100086
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Recur...	ORPHA:333
Alpha-Mannosidosis, Adult Form	Pneumonia, Osteopenia, Hepatosplenomegaly, Pancytopenia	ORPHA:309288
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Hepatosplenomegaly, Joint stiffness, Synovitis, Knee osteoarthritis, Antinucl...	ORPHA:85408
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Harderoporphyria	Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia	OMIM:618892
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepa...	OMIM:619573
Glycogen Storage Disease Ixb	Hepatomegaly, Reduced hepatic phosphorylase kinase activity, Splenomegaly, Increased hepatic glyc...	OMIM:261750
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Joint stiffness, Splenomegaly, Cardiomegaly, Reduce...	OMIM:252920
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Hepatosplenomegaly, Increased circulating anti...	ORPHA:470
Microlissencephaly	Pneumonia	ORPHA:1083
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Hepatic cysts, Eosinophilia, Recurrent infections, Decreased circulating antibody level	OMIM:617425
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple...	ORPHA:449427
Bacterial Toxic-Shock Syndrome	Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Abscess, Skin rash, Infectious encephalitis, Incr...	ORPHA:36234
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Neutrophilia, ...	OMIM:612852
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Splenomegaly, Arthritis, Hepatomegaly, Recurrent...	ORPHA:61
Kaposiform Lymphangiomatosis	Fractures of the long bones, Pancreatic cysts, Hepatosplenomegaly, Pleural effusion, Splenomegaly...	ORPHA:464329
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Recurrent infections	OMIM:618985
Muckle-Wells Syndrome	Camptodactyly of finger, Recurrent aphthous stomatitis, Episcleritis, Splenomegaly, Skin rash, He...	ORPHA:575
Histiocytosis-Lymphadenopathy Plus Syndrome	Flexion contracture of toe, Pancreatic hypoplasia, Camptodactyly of finger, Cervical lymphadenopa...	OMIM:602782
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Tracheoesophageal fistula, In...	ORPHA:93941
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Syndromic Diarrhea	Hepatic fibrosis, Peripheral pulmonary artery stenosis, Panhypogammaglobulinemia, Lymphopenia, Ab...	ORPHA:84064
Alopecia Antibody Deficiency	Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:1006
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc...	ORPHA:1333
Dystonia 31	Dysphagia, Abnormal posturing	OMIM:619565
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count, Autoimmunity	OMIM:131430
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Shwachman-Diamond Syndrome	Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu...	ORPHA:811
Osteopathia Striata-Cranial Sclerosis Syndrome	Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Spina bifida occulta, I...	ORPHA:2780
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Recurrent pneumonia, Recurrent bronchiolitis	OMIM:616069
Idiopathic Pulmonary Hemosiderosis	Antineutrophil antibody positivity, Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrh...	ORPHA:99931
Wilson Disease	Osteomalacia, Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine a...	OMIM:277900
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an...	ORPHA:440713
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Splenomegaly, Decreased beta-galactosidase activity	OMIM:230650
Dubowitz Syndrome	Decreased circulating IgG level, Aplastic anemia, Eczematoid dermatitis, Decreased circulating Ig...	OMIM:223370
Mitochondrial Neurogastrointestinal Encephalomyopathy	Gastroesophageal reflux, Gastrointestinal dysmotility, Abnormality of the gastrointestinal tract,...	ORPHA:298
Leptospirosis	Uveitis, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Skin rash, Elevated serum transaminas...	ORPHA:509
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Craniofacial osteosclerosis, Increased skull ossification, Diaphyseal sclerosis	OMIM:618476
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Pulmonary Blastoma	Weight loss	ORPHA:64741
Symptomatic Form Of Hfe-Related Hemochromatosis	Infertility, Joint stiffness, Decreased libido, Portal hypertension, Splenomegaly, Cardiomegaly, ...	ORPHA:465508
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Impaired T cell function, Hypogonadism, Decreased testicular size, Splenomegaly, Low alkaline pho...	OMIM:201100
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Whipple Disease	Uveitis, Pleuritis, Splenomegaly, Infectious encephalitis, Myositis, Hepatomegaly, Hypothyroidism...	ORPHA:3452
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Eczematoid dermatitis,...	ORPHA:508542
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu...	OMIM:127550
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly, Anhidrosis	OMIM:614979
Yellow Nail Syndrome	Biliary tract neoplasm, Recurrent respiratory infections, Hypoplasia of lymphatic vessels, Sinusi...	ORPHA:662
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,...	OMIM:603903
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Bronchiectasis, Decreased proportion of CD4-positive T cells	ORPHA:477814
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Poikiloderma With Neutropenia	Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Recurrent otitis ...	OMIM:604173
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundice, Epididym...	ORPHA:99827
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Japanese Encephalitis	Infectious encephalitis, Increased circulating antibody level, Neutrophilia, Meningitis, Increase...	ORPHA:79139
Mucopolysaccharidosis, Type Iiia	Recurrent upper respiratory tract infections, Reduced leukocyte N-sulfoglucosamine sulfohydrolase...	OMIM:252900
Diffuse Alveolar Hemorrhage	Antineutrophil antibody positivity, Pulmonary fibrosis, Autoimmunity, Leukocytosis, Antiphospholi...	ORPHA:90060
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia, Pleural effusion, Recurrent skin in...	ORPHA:90186
Albers-Schönberg Osteopetrosis	Mandibular osteomyelitis, Osteomyelitis, Abnormal leukocyte morphology, Generalized osteosclerosi...	ORPHA:53
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Weight loss, Cleft palate	ORPHA:141152
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a...	ORPHA:906
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Portal hypertension, Splenomegaly, Int...	ORPHA:131
Shigellosis	Pneumonia, Hepatic failure, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, L...	ORPHA:810
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3...	ORPHA:760
Schimke Immunoosseous Dysplasia	Osteopenia, Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abno...	OMIM:242900
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episo...	OMIM:211600
Amed Syndrome, Digenic	Bone marrow hypocellularity, Failure to thrive, Leukopenia, Attention deficit hyperactivity disor...	OMIM:619151
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Autoimmune Hemolytic Anemia, Warm Type	Systemic lupus erythematosus, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Chronic ly...	ORPHA:90033
Hypoglossia With Situs Inversus	Asplenia, High palate, Microglossia, Polysplenia	OMIM:612776
Familial Mediterranean Fever	Erysipelas, Ascites, Acute hepatic failure, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Peri...	ORPHA:342
Camurati-Engelmann Disease	Bone marrow hypocellularity, Sclerosis of skull base, Cortical thickening of long bone diaphyses,...	OMIM:131300
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the skin, Ab...	ORPHA:79332
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Leukocytosis, Splenomegaly, Joint hyperm...	OMIM:615673
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Glycogen Storage Disease Ixa1	Hepatomegaly, Reduced hepatic phosphorylase kinase activity, Elevated circulating hepatic transam...	OMIM:306000
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Sitosterolemia 1	Stomatocytosis, Giant platelets, Increased circulating lactate dehydrogenase concentration, Impai...	OMIM:210250
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Gaucher Disease, Type I	Pathologic fracture, Hypersplenism, Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, A...	OMIM:230800
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat...	OMIM:208085
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of complement system, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Dysmenorrh...	ORPHA:2348
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Minimal change glomerulonephritis, Abnormal proportion of naive CD4 ...	ORPHA:1830
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Premature graying o...	OMIM:620367
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
12Q14 Microdeletion Syndrome	Abnormality of the spleen, Osteopoikilosis	ORPHA:94063
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Leuko...	ORPHA:53035
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Portal fibrosis, Portal infla...	OMIM:602347
Insulin-Resistance Syndrome Type B	Pneumonia, Decreased circulating complement factor B concentration, Nephritis, Biliary cirrhosis,...	ORPHA:2298
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Sarcoidosis	Abnormal lymph node morphology, Abnormal pleura morphology, Erythema nodosum, Hepatomegaly, Tubul...	ORPHA:797
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Hepatic failure, Intrahepatic cholestasis, Elevated circulating hepatic tra...	OMIM:214950
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy	ORPHA:99868
Isolated Osteopoikilosis	Discoid lupus rash, Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mob...	ORPHA:166119
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Subpleural interstitial thickening, Skin rash, Respi...	ORPHA:79128
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Primary Ciliary Dyskinesia	Abnormal sperm motility, Bronchiectasis, Female infertility, Polysplenia, Atelectasis, Recurrent ...	ORPHA:244
Osteomesopyknosis	Increased bone mineral density, Infertility	OMIM:166450
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Chondritis, Joint stiffness, Thickened cortex of bones, Arthritis	ORPHA:564003
Young Syndrome	Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec...	OMIM:279000
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Carcinoid Syndrome	Hepatic necrosis, Chronic noninfectious lymphadenopathy, Elevated circulating hepatic transaminas...	ORPHA:100093
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Lymphadenitis	ORPHA:90156
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Abnormal stomach morphology, Cryptorchidism, Attention deficit hyperactivity diso...	ORPHA:281090
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,...	OMIM:616726
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Sandifer Syndrome	Gastroesophageal reflux, Abnormal posturing, Esophagitis, Hiatus hernia, Hematemesis, Anemia	ORPHA:71272
Congenital Disorder Of Glycosylation, Type Ie	Ankle flexion contracture, Elevated circulating hepatic transaminase concentration, Splenomegaly,...	OMIM:608799
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormal peritoneum morphology, Anorexia	ORPHA:2023
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t...	ORPHA:48435
Mueller-Weiss Syndrome	Sclerosis of foot bone, Joint stiffness, Chondritis, Limitation of movement at ankles, Knee osteo...	ORPHA:566943
Immunodeficiency 58	Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous abscess, Chronic muc...	OMIM:618131
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transamin...	ORPHA:264580
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Abnormal lung lobation, Decreased circulating IgA level, Hypoparathyroidism, Joint hy...	ORPHA:369837
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Villous atrophy, Portal hypertension, Hepatic steatosis, Spleno...	ORPHA:567983
Typhoid	Skin rash, Splenomegaly, Infectious encephalitis, Hepatomegaly, Abnormal pulmonary interstitial m...	ORPHA:99745
Primary Hepatic Neuroendocrine Carcinoma	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:100085
Immunodeficiency 110 With Lymphoproliferation	Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutaneous candidia...	OMIM:614868
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E...	OMIM:224120
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C3 concentration, Recurrent infections, Decreas...	ORPHA:329918
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Gastrointestinal hemorrhage, Increased RBC distribution width, Absence of alpha gr...	OMIM:187900
Mgat2-Cdg	Osteopenia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG ...	ORPHA:79329
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Pleural effusion, Splenomegaly, Ascites	ORPHA:2414
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology	ORPHA:234
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Increased circulating lactate dehydrogenase con...	ORPHA:3203
Listeriosis	Arteritis, Abscess, Pustule, Jaundice, Endocarditis, Osteomyelitis, Peritonitis, Hepatic granulom...	ORPHA:533
Pachydermoperiostosis	Limitation of joint mobility, Eczematoid dermatitis, Osteomyelitis, Abnormal cortical bone morpho...	ORPHA:2796
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Elevated circulating alkaline phosphatase concentration, ...	OMIM:601847
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent bronchitis, D...	OMIM:251260
Mucopolysaccharidosis, Type Iiic	Recurrent upper respiratory tract infections, Joint stiffness, Splenomegaly, Hepatomegaly, Dense ...	OMIM:252930
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Le...	OMIM:603467
Cowden Syndrome 1	Goiter, Lymphopenia, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyperthyroidism, Decreased ...	OMIM:158350
Yellow Fever	Pancreatic hyperplasia, Opportunistic infection, Leukocytosis, Thrombocytopenia, Neutrophilia, In...	ORPHA:99829
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Premature ovarian insufficiency	ORPHA:75325
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Uveitis, Elevated circulating hepatic transaminase concent...	ORPHA:99826
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Decreased beta-galactosidase activity, Thi...	OMIM:230600
Myotonic Dystrophy 2	Decreased circulating IgG level, Hypogonadism, Elevated circulating follicle stimulating hormone ...	OMIM:602668
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:79240
Staphylococcal Necrotizing Pneumonia	Pneumonia, Leukopenia, Leukocytosis, Pleural effusion, Pneumothorax, Acute infectious pneumonia, ...	ORPHA:36238
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Reynolds Syndrome	Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Anti-centromere antib...	OMIM:613471
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Neuroblastoma	Increased circulating lactate dehydrogenase concentration, Pathologic fracture, Lymphadenopathy, ...	ORPHA:635
Nodular Non-Suppurative Panniculitis	Autoimmunity, Splenomegaly, Inflammatory abnormality of the eye, Hepatomegaly, Panniculitis	ORPHA:33577
Ornithine Transcarbamylase Deficiency	Hepatic failure, Splenomegaly	ORPHA:664
Thymic Neuroendocrine Tumor	Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolac...	ORPHA:97289
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis, Elevated circulating alkaline phosphatase c...	OMIM:615198
Acute Lung Injury	Abnormality of tumor necrosis factor secretion, Abnormal circulating cytokine concentration, Addi...	ORPHA:178320
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Functional abnormality of the gastrointestinal...	ORPHA:90051
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Cirrhosis, Thrombocytosis, Hepatome...	OMIM:222470
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent upper respiratory tract infections, Lymphopenia, Hepatosplenomegaly, Leukopenia, Spleno...	OMIM:612541
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Slc35A1-Cdg	Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, N...	ORPHA:238459
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Eczematoid dermatitis, Elbow flexion contracture, Hypogonadism, ...	ORPHA:3132
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Alopecia, Nail ...	OMIM:175500
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele...	OMIM:616738
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Contracture of...	OMIM:618223
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Low cholesterol esterification...	OMIM:607625
Buschke-Ollendorff Syndrome	Joint stiffness, Osteopoikilosis, Flexion contracture	OMIM:166700
Takayasu Arteritis	Anemia, Gastrointestinal infarctions, Weight loss, Anorexia	ORPHA:3287
Aicardi-Goutieres Syndrome 1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Chilblains, Hepatomegaly, ...	OMIM:225750
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Coronal craniosynostosis, Decreased mean corpuscular volume, Increased...	OMIM:616943
Mcleod Syndrome	Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati...	OMIM:300842
Pycnodysostosis	Coronal craniosynostosis, Decreased response to growth hormone stimulation test, Hepatosplenomega...	ORPHA:763
Gm1-Gangliosidosis, Type I	Joint stiffness, Splenomegaly, Decreased beta-galactosidase activity, Hepatomegaly, Vacuolated ly...	OMIM:230500
Spinocerebellar Ataxia, Autosomal Recessive 20	Hepatomegaly, Camptodactyly, Splenomegaly	OMIM:616354
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Pparg-Related Familial Partial Lipodystrophy	Hepatic steatosis, Splenomegaly, Polycystic ovaries, Dysmenorrhea, Cirrhosis, Pancreatitis, Oligo...	ORPHA:79083
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic spleen, Cryptorchidism	OMIM:601186
Opsismodysplasia	Joint stiffness, Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Abnormally ossifie...	ORPHA:2746
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr...	OMIM:617394
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Hypogonadism, Abnormal c...	ORPHA:2658
Familial Mediterranean Fever	Erysipelas, Leukocytosis, Splenomegaly, Pleural effusion, Orchitis, Crohn's disease, Peritonitis,...	OMIM:249100
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia, Hepatomegaly, Abnormal pulmonary interstitial morphology, Recurrent re...	OMIM:617050
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy, Neoplasm of the lung	ORPHA:424016
Flynn-Aird Syndrome	Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral...	OMIM:136300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	ORPHA:247598
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Weight loss, Hemophagocytosis	ORPHA:86884
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Intestinal Dysmotility Syndrome	High palate, Decreased intestinal transit time, Weight loss, Failure to thrive	OMIM:620045
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis	OMIM:615294
Al Amyloidosis	Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Abnormality of the liver, Increased...	ORPHA:85443
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Hepatomegaly	OMIM:615630
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Splenomegaly, ...	OMIM:251290
Solitary Rectal Ulcer Syndrome	Hematochezia, Stercoral ulcer, Anal fissure, Decreased body weight, Anemia, Rectal prolapse, Comp...	ORPHA:209964
Aredyld Syndrome	Craniofacial hyperostosis, Sparse body hair, Splenomegaly, Cachexia, Aplasia/Hypoplasia of the ey...	ORPHA:1133
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Slender build, Gastrointestinal dysmotility, Cachexia, Weight loss	OMIM:613662
Trichothiodystrophy	Osteopenia, Increased mean corpuscular hemoglobin concentration, Eczematoid dermatitis, Panhypoga...	ORPHA:33364
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Generalized hypopigmentation of hair, Oral leukoplakia, Failure to t...	ORPHA:3322
Monosomy 18Q	Secondary growth hormone deficiency, Bilateral cryptorchidism, Decreased circulating IgA level, J...	ORPHA:1600
Aids Wasting Syndrome	Cachexia, Weight loss, Anorexia	ORPHA:90081
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Acute hepatitis, Hepatomegaly, Decreased liver function	OMIM:238970
Nocardiosis	Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Liver abscess, Emphysema, Osteomyelitis, ...	ORPHA:31204
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Rec...	OMIM:614921
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased intestinal transit t...	OMIM:619377
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Scheie Syndrome	Limitation of joint mobility, Joint stiffness, Splenomegaly, Hepatomegaly, Rhinitis	ORPHA:93474
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Spl...	OMIM:611881
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Abnormally ossified vertebrae, Pulmonary hypoplasia	ORPHA:3035
Cryptogenic Organizing Pneumonia	Anorexia, Weight loss, Leukocytosis, Neutrophilia	ORPHA:1302
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:615451
Neuroendocrine Tumor Of Stomach	Anorexia, Chronic noninfectious lymphadenopathy, Zollinger-Ellison syndrome, Iron deficiency anem...	ORPHA:100075
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:70578
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Increased circulating IgE level, Recurrent respiratory infections, Eosinophilia, Recurrent infect...	ORPHA:2314
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Craniofacial osteosclerosis, Hyperostosis, Weight loss, Anem...	ORPHA:324964
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Cholelithiasis, Hepatic failure, Abnormal pulmonary interstitial morphology, Decrease...	ORPHA:77293
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Netherton Syndrome	Increased circulating IgE level, Recurrent infections, Decreased circulating antibody level, Recu...	ORPHA:634
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Tarp Syndrome	Cryptorchidism, Extramedullary hematopoiesis, Pulmonary hypoplasia	ORPHA:2886
Carney Triad	Adrenal overactivity, Ascites, Pheochromocytoma, Lymphadenopathy, Anemia, Mediastinal lymphadenop...	ORPHA:139411
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Gastrointestinal hemorrhage, Osteopenia, Aplastic anemia, Oral leuko...	OMIM:613990
Mohr-Tranebjaerg Syndrome	Dysphagia, Abnormal posturing	OMIM:304700
Huntington Disease	Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho...	ORPHA:399
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Red...	OMIM:232220
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Malar rash, Increased susceptib...	ORPHA:2909
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,...	OMIM:615504
Bronchiolitis Obliterans	Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection	ORPHA:1303
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Blepharitis, Coarse metaphyseal trabecularization, ...	ORPHA:1775
Gm1 Gangliosidosis	Gastroesophageal reflux, Coarse metaphyseal trabecularization, Failure to thrive, Hepatosplenomeg...	ORPHA:354
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Amoebiasis Due To Entamoeba Histolytica	Leukocytosis, Intestinal obstruction, Gastrointestinal dysmotility, Weight loss, Lung abscess, An...	ORPHA:67
Trichohepatoenteric Syndrome 2	Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis	OMIM:614602
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, Elevated circulati...	OMIM:251880
Gaucher Disease, Type Ii	Bronchiolitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pneumonia	OMIM:230900
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Bronchogenic cyst, Hyperostosis, Spleno...	ORPHA:2969
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t...	ORPHA:60033
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Bone marrow hypocellularity, Failure to thrive, Large for gestational age, Thrombocytopenia, Neut...	OMIM:614520
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Leukopenia, Pulmonary hemorrhage, Sple...	OMIM:222700
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Mucopolysaccharidosis Type 6	Recurrent upper respiratory tract infections, Joint stiffness, Splenomegaly, Sinusitis, Chronic o...	ORPHA:583
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Anorexia, Cirrhosis, Pancreatitis, Weight loss, Acholi...	ORPHA:65682
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro...	ORPHA:209902
Ciliary Dyskinesia, Primary, 46	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:619436
Hurler-Scheie Syndrome	Camptodactyly of finger, Joint stiffness, Contracture of the distal interphalangeal joint of the ...	OMIM:607015
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Craniosynostosis, Increased bone mineral density	ORPHA:178377
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Abnormal gastric mucosa morphology, Cirrhosis, Hepatomegaly,...	ORPHA:779
Tangier Disease	Hepatomegaly, Left ventricular hypertrophy, Splenomegaly	OMIM:205400
Bone Dysplasia, Lethal Holmgren Type	Anemia, Hepatomegaly, Weight loss, Failure to thrive	ORPHA:1842
Oculopharyngodistal Myopathy	High, narrow palate, Oral-pharyngeal dysphagia, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Hepatic fibrosis, Failure to thrive, Hepatosplenomegaly, Portal hypertension,...	OMIM:619487
Prolidase Deficiency	Splenomegaly, Crusting erythematous dermatitis, Hepatomegaly, Recurrent respiratory infections, R...	ORPHA:742
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Alstrom Syndrome	Irregular menstruation, Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase...	OMIM:203800
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Sclerosteosis	Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:3152
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Livedoid Vasculopathy	Abnormality of complement system, Graves disease, Polycythemia, Systemic lupus erythematosus, Pan...	ORPHA:542643
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology, Weight loss	ORPHA:3165
Secondary Short Bowel Syndrome	Volvulus, Failure to thrive, Cholestasis, Villous atrophy, Abnormal small intestine morphology, A...	ORPHA:95427
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu...	ORPHA:2790
Chronic Hiccup	Weight loss, Abnormal eating behavior	ORPHA:396
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Ascites, Splenomegaly, Seborrheic ...	OMIM:301072
Familial Tumoral Calcinosis	Hyperostosis, Skin rash, Splenomegaly, Hyperhidrosis, Hepatomegaly	ORPHA:53715
Classic Pantothenate Kinase-Associated Neurodegeneration	Attention deficit hyperactivity disorder, Weight loss, Dysphagia, Abnormal posturing	ORPHA:216866
Huntington Disease-Like 1	Weight loss, Restlessness, Abnormal posturing	ORPHA:157941
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilic infiltration of the esophagus, High palate, Duodena...	OMIM:147060
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Hypogonadism, Cryptorchidism, A...	ORPHA:221008
Ileal Neuroendocrine Tumor	Intestinal fistula, Gastrointestinal obstruction, Zollinger-Ellison syndrome, Iron deficiency ane...	ORPHA:100078
Blau Syndrome	Posterior uveitis, Limitation of joint mobility, Xerostomia, Keratitis, Camptodactyly of finger, ...	ORPHA:90340
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Failure to thrive, Hepatosplenomegaly, Hypersplenism, Microvesicular hepatic st...	ORPHA:275761
Ectodermal Dysplasia And Immunodeficiency 2	Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective pro...	OMIM:612132
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Hepatitis	ORPHA:199296
Behçet Disease	Recurrent aphthous stomatitis, Pleuritis, Pleural effusion, Splenomegaly, Orchitis, Increased inf...	ORPHA:117
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi...	OMIM:301310
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno...	ORPHA:2869
Lichen Planopilaris	Hepatitis	ORPHA:525
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Thin eyebrow, Eosinophilia	OMIM:618092
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Hyperhidrosis, Thrombocytosis	ORPHA:71493
Holocarboxylase Synthetase Deficiency	Alopecia, Weight loss, Thrombocytopenia, Anorexia	ORPHA:79242
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Right ventricular hypertrophy, Splenomegaly	OMIM:616028
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl...	ORPHA:210122
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Elevated circulating ...	OMIM:122860
Liver Failure, Infantile, Transient	Decreased circulating IgG level, Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Macrov...	OMIM:613070
Mitochondrial Complex I Deficiency, Nuclear Type 33	Bronchiectasis, Neutropenia, Aspiration pneumonia	OMIM:618253
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis	OMIM:300991
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal abdomen morph...	OMIM:216360
Erdheim-Chester Disease	Abnormal pulmonary interstitial morphology, Osteomyelitis, Pleural effusion, Skin rash, Hypogonad...	ORPHA:35687
Vici Syndrome	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgG2 level, Recurren...	ORPHA:1493
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Elevated gamma-glutamyltransferase level, Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, H...	OMIM:608885
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Recurrent otitis media, Hepatosplenomegaly, Tracheobronchomalacia, Splenomeg...	OMIM:309900
Oculoskeletodental Syndrome	Elbow flexion contracture, Splenomegaly, Cryptorchidism, Hypothyroidism, Hepatomegaly	OMIM:618440
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Increased circulating cortisol level, Abnormal lymph node morphology, ...	ORPHA:99889
Erythrokeratodermia Variabilis	Alopecia, Abnormal hair morphology, Generalized hirsutism, Weight loss, Abnormal testis morphology	ORPHA:317
Sweeney-Cox Syndrome	Gastroesophageal reflux, Velopharyngeal insufficiency, Bilateral cryptorchidism, Median cleft pal...	OMIM:617746
Overlap Myositis	Elevated circulating hepatic transaminase concentration, Rheumatoid arthritis, Systemic lupus ery...	ORPHA:206572
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Abnormality of exocrine pancreas physiology, Bronchiectasis, Recurrent bronchiolitis, Chronic bro...	OMIM:613021
Gaucher Disease, Perinatal Lethal	Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocy...	OMIM:608013
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Intes...	OMIM:208540
Fucosidosis	Recurrent respiratory infections, Reduced circulating alpha-L-fucosidase activity, Splenomegaly, ...	OMIM:230000
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Cryptorchidism, Thrombocytopenia	ORPHA:1237
Thrombocytopenia 6	Osteoporosis, Myelofibrosis, Thrombocytopenia	OMIM:616937
Porphyria, Congenital Erythropoietic	Osteopenia, Cholelithiasis, Joint contracture of the hand, Conjunctivitis, Pathologic fracture, S...	OMIM:263700
Scedosporiosis	Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Pulmonar...	ORPHA:449280
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Splenomegaly, Cryptorchidism, Hypogonadotropic hypogonadism, Spherocyt...	ORPHA:251066
Alpha-Mannosidosis, Infantile Form	Pneumonia, Osteopenia, Cranial hyperostosis, Hepatosplenomegaly, Pancytopenia, Joint stiffness, O...	ORPHA:309282
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Hurler Syndrome	Cranial hyperostosis, Recurrent respiratory infections, Recurrent otitis media, Hepatosplenomegal...	OMIM:607014
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Recurrent urinary tract infections, Microcytic anemia, Recurrent otitis medi...	ORPHA:99843
Thrombocytopenia-Absent Radius Syndrome	Carpal synostosis, Hepatosplenomegaly, Decreased circulating antibody level, Leukocytosis, Eosino...	OMIM:274000
Tangier Disease	Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d...	ORPHA:31150
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615505
Sialuria	Hepatomegaly, Hypoplastic nipples, Splenomegaly	OMIM:269921
Multiple Sulfatase Deficiency	Hepatomegaly, Joint stiffness, Splenomegaly	ORPHA:585
Cartilage-Hair Hypoplasia	Anal stenosis, Sparse eyebrow, Fair hair, Fine hair, Lymphopenia, Macrocytic anemia, Sparse eyela...	OMIM:250250
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or activity, Sple...	ORPHA:565612
Hyperparathyroidism, Neonatal Severe	Splenomegaly, Hepatomegaly, Anemia, Recurrent fractures, Primary hyperparathyroidism	OMIM:239200
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Polydipsia, Tracheoesophageal fistula, Pancreatitis, Weight loss, Th...	ORPHA:537
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Failure to thriv...	OMIM:617052
Lujo Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:319213
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver...	ORPHA:157798
Christianson Syndrome	Gastroesophageal reflux, Inappropriate laughter, Thick eyebrow, Cachexia, Dysphagia, Motor stereo...	ORPHA:85278
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic...	ORPHA:538
Zimmermann-Laband Syndrome	Hepatomegaly, Splenomegaly, Joint hypermobility	ORPHA:3473
Kagami-Ogata Syndrome	Hepatomegaly, Flexion contracture, Splenomegaly, Pulmonary hypoplasia	OMIM:608149
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculat...	ORPHA:247691
Addison Disease	Normocytic anemia, Thymoma, Failure to thrive, Thiamine-responsive megaloblastic anemia, Salt cra...	ORPHA:85138
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level...	ORPHA:330015
Chops Syndrome	Tracheomalacia, Aspiration pneumonia, Splenomegaly, Cryptorchidism, Cervical C2/C3 vertebral fusi...	OMIM:616368
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Hepatomegaly, Splenomegaly, Joint hypermobility	OMIM:602557
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Failure to thrive, Intestinal malrotation, Abnormality of ...	ORPHA:2538
Wolfram Syndrome 2	Decreased circulating antibody level, Impaired collagen-induced platelet aggregation	OMIM:604928
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Chronic Mucocutaneous Candidiasis	Skin rash, Recurrent respiratory infections, Cheilitis, Hepatitis	ORPHA:1334
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, Cryptorchidism, Thyroid lymp...	OMIM:235255
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi...	ORPHA:79106
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Abdominal situs ambiguus, Chronic sinusitis, Chronic rhinitis, Chronic otiti...	OMIM:617092
Viss Syndrome	Atopic dermatitis, Pulmonary artery aneurysm, Eczematoid dermatitis, Increased circulating IgE le...	OMIM:619472
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Chronic myelomonocytic leukemia, Myelofibrosis, Acute myeloid leukemia	OMIM:616604
Van Buchem Disease	Thickened cortex of long bones, Elevated circulating alkaline phosphatase concentration, Increase...	OMIM:239100
Beta-Ketothiolase Deficiency	Anorexia, Leukocytosis, Oral aversion, Weight loss, Thrombocytosis, Hepatomegaly, Agitation	ORPHA:134
Mucopolysaccharidosis Type 1	Joint stiffness, Splenomegaly, Abnormality of the tonsils, Sinusitis, Recurrent respiratory infec...	ORPHA:579
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Hepatic steatosis, Pulmonary edema, Abnormal hepatic...	OMIM:619991
Hirschsprung Disease	Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Intestinal po...	ORPHA:388
Preeclampsia	Abnormality of the hepatic vasculature, Elevated circulating hepatic transaminase concentration, ...	ORPHA:275555
Cartilage-Hair Hypoplasia	Limited elbow extension, Joint hypermobility, Abnormality of the pancreas, Hepatomegaly, Abnormal...	ORPHA:175
Mucopolysaccharidosis, Type Vi	Reduced leukocyte arylsulfatase B activity, Pneumonia, Recurrent upper respiratory tract infectio...	OMIM:253200
Camurati-Engelmann Disease	Craniofacial osteosclerosis, Limitation of joint mobility, Hypogonadism, Leukopenia, Hyperostosis...	ORPHA:1328
Refsum Disease	Splenomegaly	ORPHA:773
Malakoplakia	Inflammatory abnormality of the skin, Urinary bladder inflammation, Skin rash, Follicular hyperpl...	ORPHA:556
Igg4-Related Thyroid Disease	Increased circulating IgG4 level, Pancreatic fibrosis, Sclerosing cholangitis, Retroperitoneal fi...	ORPHA:64744
Diastrophic Dysplasia	Camptodactyly of finger, Joint stiffness, Cryptorchidism, Joint hypermobility, Increased bone min...	ORPHA:628
Ciliary Dyskinesia, Primary, 11	Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron...	OMIM:612649
Biotinidase Deficiency	Skin rash, Splenomegaly, Seborrheic dermatitis, Decreased circulating biotinidase concentration, ...	OMIM:253260
Renpenning Syndrome	High, narrow palate, Alopecia, Abnormal hairshaft morphology, Decreased testicular size, Thin eye...	ORPHA:3242
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Mhc Class I Deficiency 1	Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis...	OMIM:604571
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Weight loss, Pancreatitis, Thrombocytopenia, Anemia, Abnormality of ...	ORPHA:36426
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Recurrent tonsillitis, Aspiration pneumonia, Joint stiffness, Adenoidi...	ORPHA:581
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Pathologic fracture, Cryptorchi...	ORPHA:221016
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Splenomegaly, Hepatic steatosis, Polycystic ovaries, Dysmenorrhea, Acroosteolysis of distal phala...	ORPHA:280365
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Somatostatinoma	Intrahepatic cholestasis, Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating p...	ORPHA:97283
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Gastric ulcer, Esophageal ulceration	OMIM:618372
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity, Anal atresia, Radial dysplasia	OMIM:617244
Complement Factor B Deficiency	Pneumonia, Peritonitis	OMIM:615561
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Failure to thrive	OMIM:612075
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr...	ORPHA:454831
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Cardiofacioneurodevelopmental Syndrome	Asplenia, Abdominal situs inversus, Cryptorchidism, Cleft palate	OMIM:619123
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis, Recurrent aspiration pneumonia	OMIM:619971
Melorheostosis	Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m...	ORPHA:2485
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia	OMIM:619057
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615500
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Aspiration pneumonia	ORPHA:90117
Glucagonoma	Intrahepatic cholestasis, Gastrointestinal hemorrhage, Pituitary adenoma, Abnormal gastrointestin...	ORPHA:97280
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis, Camptodactyly of finger	ORPHA:2135
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:614679
D-Bifunctional Protein Deficiency	Osteopenia, Fetal ascites, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:261515
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Decreased fertility, Splenomegaly, Hepat...	OMIM:269700
Tyrosinemia, Type I	Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic ...	OMIM:276700
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Decreased beta-galactosidase activity, Aspiration pneumonia	ORPHA:79255
Joubert Syndrome With Hepatic Defect	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge...	ORPHA:1454
Systemic Capillary Leak Syndrome	Pancreatitis, Leukocytosis, Weight loss	ORPHA:188
3-Hydroxy-3-Methylglutaric Aciduria	Anorexia, Leukopenia, Leukocytosis, Lipid accumulation in hepatocytes, Hepatomegaly, Weight loss,...	ORPHA:20
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Jau...	OMIM:301068
Chikungunya	Periostitis, Cervical lymphadenopathy, Joint stiffness, Skin rash, Maculopapular exanthema, Infec...	ORPHA:324625
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis	OMIM:211400
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Decreased circulating IgG level, Congenital hypothyroidism, Limited elbow extension, ...	OMIM:271510
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Weight loss, Ulcera...	OMIM:266600
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	OMIM:610717
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Splenomegaly, Cryptorc...	ORPHA:1655
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Recurrent infections, Decreased circulating antibody level, Sepsis	ORPHA:79396
Hurler Syndrome	Limitation of joint mobility, Recurrent respiratory infections, Camptodactyly of finger, Splenome...	ORPHA:93473
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Ele...	OMIM:600785
Plague	Inflammation of the large intestine, Lymphadenitis, Chapped lip, Splenomegaly, Skin rash, Inflamm...	ORPHA:707
Grfoma	Increased circulating prolactin concentration, Intestinal obstruction, Weight loss, Elevated circ...	ORPHA:97261
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections	ORPHA:596
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Abnormal circulating enzyme concentration or activity	ORPHA:2590
Giant Cell Arteritis	Alopecia, Gastrointestinal infarctions, Weight loss, Anorexia, Glossitis, Mediastinal lymphadenop...	ORPHA:397
Autosomal Recessive Polycystic Kidney Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni...	ORPHA:731
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Osteopenia, Erythroid hyperplasia, Abnormal circulating enzyme concentra...	ORPHA:95159
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Polycythemia, Micronodular cirrhosis, Ab...	ORPHA:309854
Multiple Sulfatase Deficiency	Hepatomegaly, Splenomegaly	OMIM:272200
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Infection-Related Hemolytic Uremic Syndrome	Abnormal circulating chemokine concentration, Pneumonia, Brain abscess, Increased circulating int...	ORPHA:544482
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni...	OMIM:618699
Glycogen Storage Disease Ii	Reduced muscle alpha-1,4-glucosidase activity, Increased circulating lactate dehydrogenase concen...	OMIM:232300
Alexander Disease Type I	Cachexia, Dysphagia, Failure to thrive	ORPHA:363717
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Osteopenia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenome...	ORPHA:79277
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:608647
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Cranial hyperostosis	OMIM:612918
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatome...	OMIM:263200
Mucopolysaccharidosis, Type Vii	Recurrent upper respiratory tract infections, Limitation of joint mobility, Recurrent otitis medi...	OMIM:253220
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Abnormal temper tantrums, Abnormality of the spleen, Hepatosple...	ORPHA:2072
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:619525
Cystic Fibrosis	Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch...	OMIM:219700
Autoimmune Hypoparathyroidism	Chronic mucocutaneous candidiasis, Autoimmune hypoparathyroidism, Autoimmunity, Conjunctivitis, A...	ORPHA:36913
Shwachman-Diamond Syndrome 1	Failure to thrive, Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, ...	OMIM:260400
Digeorge Syndrome	Cholelithiasis, Recurrent pneumonia, Parathyroid hypoplasia, Impaired T cell function, Atelectasi...	OMIM:188400
Moynahan Syndrome	Alopecia, Cachexia, Sparse hair	ORPHA:2574
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly	OMIM:231005
Heterotaxy, Visceral, 2, Autosomal	Intestinal malrotation, Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Congenital Tufting Enteropathy	Cholestatic liver disease, Failure to thrive, Abnormal large intestinal mucosa morphology, Villou...	ORPHA:92050
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B...	ORPHA:922
Ciliary Dyskinesia, Primary, 32	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:616481
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm...	ORPHA:44890
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Failure to thrive, Large for gestational age, Long eyelashes, Cryptorchidism, ...	OMIM:607721
Acute Disseminated Encephalomyelitis	Myelitis, Herpes simplex encephalitis, Optic neuritis, Anti-myelin oligodendrocyte glycoprotein a...	ORPHA:83597
Eosinophilic Granulomatosis With Polyangiitis	Gastroesophageal reflux, Intestinal obstruction, Eosinophilia, Weight loss, Dysphagia	ORPHA:183
Mosaic Trisomy 9	Intestinal malrotation, Cryptorchidism, Asplenia, High palate, Cleft palate, Abnormal liver lobul...	ORPHA:99776
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Polycys...	OMIM:608594
Graves Disease	Polyphagia, Weight loss, Hyperactivity, Goiter	OMIM:275000
Juvenile Huntington Disease	Weight loss, Hyperactivity	ORPHA:248111
Peripheral Primitive Neuroectodermal Tumor	Weight loss, Pancreatitis, Anorexia, Anemia, Jaundice, Ovarian neoplasm, Neoplasm of the pancreas	ORPHA:370348
Vipoma	Intrahepatic cholestasis, Pituitary adenoma, Abnormal gastrointestinal motility, Increased circul...	ORPHA:97282
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Atelectasis, Recurrent aphthous stomatitis, Chondritis, Episclerit...	ORPHA:728
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p...	ORPHA:2357
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, In...	ORPHA:51
Degcags Syndrome	Pneumonia, Osteopenia, Tracheomalacia, Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia,...	OMIM:619488
Central Diabetes Insipidus	Weight loss, Polydipsia, Failure to thrive, Anorexia	ORPHA:178029
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Niemann-Pick Disease Type C	Fetal ascites, Hepatic failure, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of...	ORPHA:646
Mixed-Type Autoimmune Hemolytic Anemia	Skin rash, Autoimmunity, Autoimmune hemolytic anemia, Systemic lupus erythematosus	ORPHA:90036
Rat-Bite Fever	Lymphadenitis, Parotitis, Weight loss, Pancreatitis, Anemia	ORPHA:31205
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage...	ORPHA:79076
Riboflavin Transporter Deficiency	Aggressive behavior, Cachexia, Dysphagia	ORPHA:97229
Isaacs Syndrome	Weight loss	ORPHA:84142
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir...	OMIM:610910
Choreoacanthocytosis	Self-injurious behavior, Phonic tics, Head-banging, Bruxism, Acanthocytosis, Protruding tongue, S...	ORPHA:2388
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Pearson Marrow-Pancreas Syndrome	Failure to thrive, Exocrine pancreatic insufficiency, Sideroblastic anemia, Pancytopenia, Villous...	OMIM:557000
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Rickets, Secondary hyperparathyroidism, Sparse bone trabeculae, ...	OMIM:277440
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Rickets, Secondary hyperparathyroidism, Sparse bone trabeculae, ...	OMIM:264700
Encephalitis Lethargica	Recurrent viral infections, Increased circulating antibody level	ORPHA:83600
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon,...	ORPHA:440437
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Eosinoph...	OMIM:158310
Neuroblastoma, Susceptibility To, 1	Anemia, Weight loss, Failure to thrive	OMIM:256700
Feingold Syndrome 1	Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop...	OMIM:164280
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Polydipsia, Cholestasis, Hepatospleno...	ORPHA:84081
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated gamma-glutamyltransferase level, Increased circulating lactate dehydrogenase concentrati...	OMIM:614866
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Long eyelashes, Neutr...	OMIM:301110
Ciliary Dyskinesia, Primary, 15	Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent res...	OMIM:613808
Dermatitis Herpetiformis	Microcytic anemia, Eczematoid dermatitis, Recurrent fractures, Autoimmunity	ORPHA:1656
Werner Syndrome	Secondary amenorrhea, Hypogonadism, Joint stiffness, Decreased fertility, Pulmonary artery stenos...	ORPHA:902
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Iron deficiency anemia, Weight loss, Os...	ORPHA:309031
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Alström Syndrome	Testicular fibrosis, Elevated gamma-glutamyltransferase level, Decreased circulating T4 concentra...	ORPHA:64
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Acute Liver Failure	Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa...	ORPHA:90062
Mucolipidosis Type Ii	Limitation of joint mobility, Recurrent respiratory infections, Decreased movement range in inter...	ORPHA:576
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Decreased response to growth hormone stimulation test, I...	ORPHA:94089
Juvenile Polyposis Syndrome	Hematochezia, Intussusception, Failure to thrive, Duodenal adenocarcinoma, Multiple gastric polyp...	OMIM:174900
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Cholelithiasis, Recurrent tonsillitis, Weight loss	ORPHA:171876
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Tarsal sclerosis, Elevated circulating hepatic transam...	ORPHA:404454
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Chylothorax, Juvenile myelomonocytic leukemia, Hepatosplenomegaly, Splenomegaly, Cryptorchidism, ...	OMIM:613563
Wolcott-Rallison Syndrome	Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Acute...	ORPHA:1667
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:614935
Huntington Disease-Like 2	Weight loss	OMIM:606438
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ...	ORPHA:289176
Malignant Peritoneal Mesothelioma	Peritonitis, Ileus, Weight loss	ORPHA:168811
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p...	OMIM:600081
Cap Polyposis	Atrophic gastritis, Hematochezia, Weight loss, Colorectal polyposis	ORPHA:160148
Lymphatic Malformation 6	Chylothorax, Intestinal lymphangiectasia, Ascites, Pleural effusion, Splenomegaly, Hypothyroidism...	OMIM:616843
Axial Osteomalacia	Increased bone mineral density, Polycystic liver disease, Osteomalacia	OMIM:109130
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Intestinal malrotation, Asplenia, High palate	OMIM:619657
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Hypertrichosis, Leukopenia, Reticulocytosis, Abnormal lymphati...	ORPHA:2330
Mcdonough Syndrome	Cachexia, Cryptorchidism, Synophrys	ORPHA:2471
Hereditary Central Diabetes Insipidus	Weight loss, Polydipsia	ORPHA:30925
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Delayed patellar ossification, Wide anterior fontanel, Abnormal b...	ORPHA:163649
Letterer-Siwe Disease	Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice	OMIM:246400
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Eleva...	OMIM:241530
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypogonadism, Splenomegaly, Hypohidrosis, Hepatomegaly, Arthrogryposis multiplex congenita	ORPHA:163746
Nijmegen Breakage Syndrome	Acute leukemia, Anal stenosis, Abnormal hair morphology, Anorectal anomaly, Autoimmune hemolytic ...	ORPHA:647
Congenital Analbuminemia	Recurrent lower respiratory tract infections, Increased circulating antibody level	ORPHA:86816
Chondrodysplasia, Blomstrand Type	Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis, ...	OMIM:215045
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Recurrent lower respiratory tract infections, Splenomegaly	OMIM:617913
African Trypanosomiasis	Myelitis, Keratitis, Conjunctivitis, Abnormality of the menstrual cycle, Infertility, Hepatosplen...	ORPHA:3385
22Q11.2 Deletion Syndrome	Cholelithiasis, Multiple suture craniosynostosis, Impaired T cell function, Atelectasis, Abnormal...	ORPHA:567
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulating interle...	ORPHA:340
Occipital Horn Syndrome	Synostosis of joints, Osteopenia, Rickets, Hepatitis, Osteomalacia, Cholestasis, Esophagitis, Joi...	ORPHA:198
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Kenny-Caffey Syndrome, Type 2	Anemia, Thickened cortex of long bones, Hypoparathyroidism, Increased bone mineral density	OMIM:127000
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Tetrasomy 12P	Sparse eyebrow, Cachexia, Abnormal soft palate morphology, Anal atresia, Sparse hair	ORPHA:884
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Abnormal pineal melatonin secretion, Cholecystiti...	ORPHA:69665
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Long eyelashes, Weight loss, Neutropenia, Anorexia, Hypopigmentation...	ORPHA:79430
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Abnormal hair morphology, Cachexia, Weight loss, Reduced bone mineral ...	ORPHA:1979
Ppoma	Intrahepatic cholestasis, Gastrointestinal hemorrhage, Cholelithiasis, Pituitary adenoma, Increas...	ORPHA:97278
Simpson-Golabi-Behmel Syndrome	Polysplenia, Camptodactyly of finger, Increased circulating IgE level, Supernumerary nipple, Sple...	ORPHA:373
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Multiple Endocrine Neoplasia Type 1	Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma...	ORPHA:652
Arteriosclerosis, Severe Juvenile	Anemia, Gastric ulcer	OMIM:208060
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Weight loss	OMIM:191390
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Abnormal circulating interleukin concentration, Reduced bone mineral density	ORPHA:85435
Fanconi Anemia	Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Leukopenia, Abnormality ...	ORPHA:84
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Portal fibrosis, Biliary cirrhosis, Elevated circulating hepatic transaminas...	OMIM:613610
Sporadic Infantile Bilateral Striatal Necrosis	Dysphagia, Abnormal posturing, Titubation	ORPHA:225147
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Osteopenia, Cachexia	OMIM:616801
Cystinosis, Nephropathic	Polydipsia, Failure to thrive, Rickets, Exocrine pancreatic insufficiency, Failure to thrive in i...	OMIM:219800
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Polymyositis	Gastrointestinal hemorrhage, Gastroesophageal reflux, Weight loss, Anorexia, Hepatomegaly	ORPHA:732
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou...	ORPHA:329971
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100079
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Knee flexion contractur...	OMIM:619708
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Heterotaxy, Visceral, 1, X-Linked	Failure to thrive, Polysplenia, Abdominal situs inversus, Posteriorly placed anus, Biliary atresi...	OMIM:306955
Gaisböck Syndrome	Increased red blood cell count, Increased hematocrit, Increased mean corpuscular hemoglobin conce...	ORPHA:90041
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Weight loss, Hematochezia	ORPHA:103910
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Recurrent respiratory infections	OMIM:615508
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Joint hypermobility, Limitation of knee mobility, Osteoporosis, R...	OMIM:614856
Developmental And Epileptic Encephalopathy 50	Failure to thrive, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia, Dysphagia	OMIM:616457
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Pseudohypoparathyroidism Type 1A	Pituitary resistance to thyroid hormone, Ectopic ossification, Decreased response to growth hormo...	ORPHA:79443
Dystonia 1, Torsion, Autosomal Dominant	Dysphagia, Abnormal posturing	OMIM:128100
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo...	ORPHA:93284
Pseudoaminopterin Syndrome	Highly arched eyebrow, Frontal upsweep of hair, Cryptorchidism, Sagittal craniosynostosis, Patchy...	ORPHA:221120
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Wolfram Syndrome	Gastrointestinal hemorrhage, Polydipsia, Abnormal mesentery morphology, Anemia, Gastric ulcer	ORPHA:3463
Pyomyositis	Testicular teratoma, Weight loss, Leukocytosis, Recurrent cutaneous abscess formation	ORPHA:764
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Gastroesophageal reflux, Failure to thrive, Abnormal gastrointestinal tract morphology, Esophagea...	ORPHA:1018
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Salt craving, Sparse axillary hair, Weight loss, Anorexia	ORPHA:95409
Cockayne Syndrome A	Irregular menstruation, Limitation of joint mobility, Hypogonadism, Splenomegaly, Thymic hormone ...	OMIM:216400
Flynn-Aird Syndrome	Alopecia, Cachexia, Bone cyst	ORPHA:2047
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Aspiration pneumonia	ORPHA:79264
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Pituitary adenoma, Hyperparathyroidism, ...	ORPHA:913
Systemic Sclerosis	Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref...	ORPHA:90291
Sponastrime Dysplasia	Delayed epiphyseal ossification, Recurrent pneumonia, Limited elbow extension, Generalized joint ...	ORPHA:93357
Neuroleptic Malignant Syndrome	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:94093
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Periapical tooth abscess	ORPHA:3352
Acquired Generalized Lipodystrophy	Abnormality of complement system, Autoimmunity, Hepatic steatosis, Polycystic ovaries, Cirrhosis,...	ORPHA:79086
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Jaundice, Fulminant hepatitis	OMIM:215600
Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Autoimmunity, Otitis media, Skin rash, Increased inflammator...	ORPHA:900
Scleromyxedema	Paraproteinemia	ORPHA:167635
Parathyroid Carcinoma	Peptic ulcer, Polydipsia, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid ...	ORPHA:143
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o...	ORPHA:85188
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Recurrent upper respiratory tract infections, Limitation of joint mobility, C...	ORPHA:580
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra...	OMIM:300554
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Timothy Syndrome	Pneumonia, Bronchitis	OMIM:601005
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Alopecia, Oral leukoplakia, Premature graying of hair, Decreased tes...	OMIM:305000
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Sclerosis of skull base, Thickened cortex of long bones, Hepatob...	OMIM:269150
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Gastrointestinal infarctions, Peritonitis, Weigh...	ORPHA:679
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Slender build, Gastrointestinal dysmotility, ...	OMIM:603041
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Recurrent infections	OMIM:601675
Joubert Syndrome 21	Splenomegaly, Chronic sinusitis, Pulmonary hypoplasia	OMIM:615636
Lynch Syndrome	Gastrointestinal hemorrhage, Adenoma sebaceum, Pituitary adenoma, Pancreatic adenocarcinoma, Inte...	ORPHA:144
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Meckel diverticulum, Annular pancreas, Intestinal malrotati...	OMIM:265380
Dermatomyositis	Abnormal eosinophil morphology, Anti-transcription intermediary factor-1gamma antibody positivity...	ORPHA:221
Oromandibular Dystonia	Bruxism, Weight loss, Dysphagia	ORPHA:93958
X-Linked Creatine Transporter Deficiency	Ileus, Self-mutilation, Aganglionic megacolon, Cachexia, Hyperactivity	ORPHA:52503
Mucopolysaccharidosis Type 2, Severe Form	Recurrent upper respiratory tract infections, Limitation of joint mobility, Camptodactyly of fing...	ORPHA:217085
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia	ORPHA:1438
Diarrhea 10, Protein-Losing Enteropathy Type	Recurrent upper respiratory tract infections, Decreased circulating antibody level	OMIM:618183
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Recurrent aspiration pneumonia, Elevated circulating hepatic transaminase concentration, Hyperost...	ORPHA:73230
Neuropathy, Congenital Hypomyelinating, 3	Cachexia, Narrow palate, High palate, Gastroesophageal reflux	OMIM:618186
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Weight loss	ORPHA:767
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Meckel Syndrome	Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Cryptorchidism, Congenital h...	ORPHA:564
Wild Type Attr Amyloidosis	Hepatomegaly, Gastrointestinal dysmotility, Weight loss	ORPHA:330001
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Intestinal malrotation, Splenomegaly,...	OMIM:249000
Williams Syndrome	Osteopenia, Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Cholelithiasis, Increased...	ORPHA:904
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
Solitary Fibrous Tumor	Neoplasm of the liver, Weight loss, Hypophosphatemic rickets, Abnormal peritoneum morphology	ORPHA:2126
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased activity of NADPH oxidase, Pancreatitis, Aspiration pneumonia	ORPHA:431361
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cachexia, Hepatic steatosis	ORPHA:42
Aspartylglucosaminuria	Recurrent respiratory infections, Joint stiffness, Abnormal cortical bone morphology, Splenomegal...	ORPHA:93
Metachromatic Leukodystrophy	Addictive behavior, Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladd...	ORPHA:512
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Increased circulatin...	ORPHA:91500
Chronic Graft Versus Host Disease	Alopecia, Gastroesophageal reflux, Xerostomia, Pancytopenia, Abnormal esophagus physiology, Nail ...	ORPHA:99921
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Granuloma, Stiff neck, Respiratory tract infection, In...	ORPHA:68
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Ascites, Splenomegaly, Cardiomegaly, Eosinophi...	ORPHA:75565
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Cervical lymphadenopathy, Pheochromocytoma, Joint hypermobility, Neop...	ORPHA:653
Hypercalcemia, Infantile, 1	Weight loss, Failure to thrive	OMIM:143880
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Acute infectious pneumonia	ORPHA:264675
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Metacarpal osteolysis, Cachexia, Osteolysis, Carpal osteolysis	ORPHA:2774
X-Linked Intellectual Disability, Cabezas Type	Decreased testicular size, Obesity, Aggressive behavior, Cachexia, Abnormal hair pattern, Hyperac...	ORPHA:85293
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,...	OMIM:300009
Osteosarcoma	Weight loss, Osteolysis	ORPHA:668
Roifman-Chitayat Syndrome	Pneumonia, Arthritis	OMIM:613328
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Tetraamelia Syndrome 1	Asplenia, Anal atresia, Adrenal gland agenesis, Cleft palate	OMIM:273395
Cornelia De Lange Syndrome 1	Pneumonia, Elbow flexion contracture, Limited elbow extension, Cryptorchidism, Otitis media, Hypo...	OMIM:122470
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concen...	ORPHA:26793
Acrodermatitis Enteropathica	Alopecia, Failure to thrive, Furrowed tongue, Abnormal eyebrow morphology, Weight loss, Anorexia,...	ORPHA:37
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia	OMIM:253700
Severe Acute Respiratory Syndrome	Acute infectious pneumonia	ORPHA:140896
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Failure to thrive, Increased circulating interfer...	ORPHA:85410
Heterotaxy, Visceral, 5, Autosomal	Abdominal situs inversus, Intestinal malrotation, Abdominal situs ambiguus, Asplenia, Duodenal at...	OMIM:270100
19Q13.11 Microdeletion Syndrome	Failure to thrive, Sparse lateral eyebrow, Supernumerary nipple, Fine hair, Sparse or absent eyel...	ORPHA:217346
Hereditary Bullous Dystrophy, Macular Type	Pneumonia	ORPHA:1867
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Self-injurious behavior, Severe failure to thrive, Cachexia	ORPHA:371364
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Hydrocele testis, Weight loss, Anorexia	ORPHA:49041
Dysosteosclerosis	Craniofacial hyperostosis, Recurrent fractures, Coarse metaphyseal trabecularization, Increased b...	ORPHA:1782
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections, Cryptorchidism, Joint hypermobility, Flexion contrac...	ORPHA:98905
8P23.1 Microdeletion Syndrome	Obesity, Cryptorchidism, Attention deficit hyperactivity disorder, Weight loss, High palate	ORPHA:251071
Non-Functioning Paraganglioma	Weight loss	ORPHA:94080
Cysticercosis	Increased anti-parasite IgE antibody level, Infectious encephalitis, Increased circulating antibo...	ORPHA:1560
Pseudohypoparathyroidism Type 1C	Pituitary resistance to thyroid hormone, Ectopic ossification, Decreased response to growth hormo...	ORPHA:79444
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Head titubation, Dysphagia	ORPHA:300605
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Elevated circulating alkaline phosphatase concentrati...	OMIM:239000
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Granulomatosis With Polyangiitis	Weight loss, Granulomatosis	OMIM:608710
Perry Syndrome	Weight loss	ORPHA:178509
Fatal Familial Insomnia	Weight loss, Dysphagia	OMIM:600072
Atypical Werner Syndrome	Neoplasm of the lung, Limitation of joint mobility, Secondary amenorrhea, Sclerosis of hand bone,...	ORPHA:79474
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Juvenile Polyposis Syndrome	Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Juvenile colonic...	ORPHA:2929
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia	ORPHA:204
Perry Syndrome	Weight loss, Inappropriate behavior, Disinhibition	OMIM:168605
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ...	ORPHA:97286
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent aspiration pneumonia	ORPHA:79243
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Goiter	OMIM:188580
Interstitial Cystitis	Abnormality of tumor necrosis factor secretion	ORPHA:37202
Focal Myositis	Weight loss	ORPHA:48918
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Thin bony cortex, Increased bone mineral density, Wide anterior fontanel	ORPHA:85184
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Goiter	OMIM:613239
Pemphigus Vulgaris	Weight loss, Alopecia of scalp, Recurrent cutaneous abscess formation	ORPHA:704
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Pyoderma, Pneumothorax, Gastrointestinal inflammation, Anemia, Osteoporosis, Recurrent...	ORPHA:79404
Glossopharyngeal Neuralgia	Weight loss, Odynophagia, Oral-pharyngeal dysphagia	ORPHA:221098
Schwartz-Jampel Syndrome	Shoulder flexion contracture, Decreased testicular size, Joint stiffness, Hip contracture, Wrist ...	ORPHA:800
Silver-Russell Syndrome	Gastroesophageal reflux, Failure to thrive in infancy, Decreased testicular size, Obesity, Crypto...	ORPHA:813
Rett Syndrome	Bruxism, Cachexia, Gastroesophageal reflux, Stereotypical hand wringing	OMIM:312750
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Generalized hirsutism, Cachexia	ORPHA:1933
Amyotrophic Lateral Sclerosis	Xerostomia, Cachexia, Dysphagia, Tongue atrophy, Agitation	ORPHA:803
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Thyroid hyperplasia, Goiter, Weight loss, Hyperactivity, Small for gestational age, Agitation	ORPHA:424
Dysostosis, Stanescu Type	Increased bone mineral density, Massively thickened long bone cortices	ORPHA:1798
Familial Glucocorticoid Deficiency	Leydig cell neoplasia, Failure to thrive, Cryptorchidism, Weight loss, Anorexia, Testicular adren...	ORPHA:361
Infantile Neuroaxonal Dystrophy	Increased circulating lactate dehydrogenase concentration, Aspiration pneumonia	ORPHA:35069
Trichinellosis	Increased circulating IgE level, Meningitis	ORPHA:863
Beckwith-Wiedemann Syndrome	Visceromegaly, Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Spl...	ORPHA:116
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Yao Syndrome	Weight loss, Xerostomia	OMIM:617321
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid uvula, Submucous cleft of soft and hard palate, Failure to thrive, Bruxism, Cryptorchidism,...	ORPHA:261537
X-Linked Hypophosphatemia	Rickets, Limitation of joint mobility, Elevated circulating alkaline phosphatase concentration, T...	ORPHA:89936
Short Syndrome	Sparse hair, Alopecia, Weight loss	ORPHA:3163
Raine Syndrome	Elevated circulating alkaline phosphatase concentration, Subperiosteal bone formation, Increased ...	OMIM:259775
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Inflammatory abnormality of the skin, Xerostomia, Elevated circulating hepatic transam...	ORPHA:95455
Mowat-Wilson Syndrome	Bifid uvula, Submucous cleft of soft and hard palate, Horizontal eyebrow, Bruxism, Cryptorchidism...	ORPHA:2152
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Recurrent respiratory infections, Cryptorchidism, Hypoplasia of the thymus, Flexion co...	OMIM:264090
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Cryptorchidism, Congenital hypoparathyroidism, Hypoparathyroidism, Recurre...	ORPHA:2323
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture...	OMIM:224300
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Congenital hypopara...	OMIM:241410
Hereditary Sensory And Autonomic Neuropathy Type 4	Abnormality of humoral immunity, Septic arthritis, Painless fractures due to injury, Fasciitis, O...	ORPHA:642
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Aspiration pneumonia	OMIM:619167
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ...	ORPHA:217563
Otopalatodigital Syndrome Type 2	Pulmonary hypoplasia, Synostosis of carpal bones, Camptodactyly of finger, Carpal synostosis, Inc...	ORPHA:90652
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Cholestasis, Congenital hepatic fibrosis, Elevated circ...	OMIM:619534
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss, Dysphagia, Intestinal pseudo-obstruction	OMIM:607459
Hereditary Late-Onset Parkinson Disease	Impulsivity, Weight loss, Dysphagia, Agitation	ORPHA:411602
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa...	OMIM:112250
Familial Gestational Hyperthyroidism	Thyroid hyperplasia, Goiter, Weight loss, Hyperactivity, Agitation	ORPHA:99819
Adrenocortical Carcinoma	Increased body weight, Adrenocorticotropic hormone deficiency, Weight loss, Hypertrichosis	ORPHA:1501
Dent Disease	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,...	ORPHA:1652
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly	OMIM:617088
Infantile Krabbe Disease	Cachexia, Gastroesophageal reflux, Failure to thrive	ORPHA:206436
Bullous Pemphigoid	Weight loss	ORPHA:703
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid uvula, Submucous cleft of soft and hard palate, Highly arched eyebrow, Failure to thrive, B...	ORPHA:261552
Geleophysic Dysplasia 3	Hepatomegaly, Pneumonia, Limited wrist movement, Limited elbow movement	OMIM:617809
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Adrenal hyperplasia, Decreased circulating cortisol level, Jaundice, Macroorchidism	ORPHA:90790
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis, Elevated circulating alkaline pho...	OMIM:167250
Liposarcoma	Weight loss	ORPHA:69078
Juvenile Dermatomyositis	Alopecia, Gastrointestinal hemorrhage, Weight loss, Dysphagia	ORPHA:93672
Cockayne Syndrome	Gastroesophageal reflux, Dry hair, Fine hair, Splenomegaly, Cryptorchidism, Cachexia, Hepatomegaly	ORPHA:191
Sporadic Pheochromocytoma/Secreting Paraganglioma	Adrenal pheochromocytoma, Weight loss, Extraadrenal pheochromocytoma	ORPHA:276621
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Increased circulating prolactin concentration, Aspiration pneumonia, Cryptorchidism, ...	ORPHA:438213
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hepatic fai...	OMIM:243800
Cystic Fibrosis	Osteopenia, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insuffic...	ORPHA:586
Bannayan-Riley-Ruvalcaba Syndrome	Abnormal large intestine morphology, Intestinal polyposis, Cachexia, Narrow palate, Hamartomatous...	ORPHA:109
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Acquired Central Diabetes Insipidus	Weight loss, Polydipsia	ORPHA:95626
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Foot acroosteolysis, Gastric hypertrophy, Metacarpal periosteal thickening, Periosteal thickening...	OMIM:161700
Tsh-Secreting Pituitary Adenoma	Secondary growth hormone deficiency, Osteopenia, Increased circulating prolactin concentration, G...	ORPHA:91347
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, T lymphocytopenia	ORPHA:2959
Trisomy 18	Cryptorchidism, Cachexia, Anal atresia, Esophageal atresia, Narrow palate, Cleft palate	ORPHA:3380
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of tumor necrosis factor secretion	ORPHA:85436
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Proteus Syndrome	Thymus hyperplasia, Cranial hyperostosis, Neoplasm of the thymus, Hyperostosis, Splenomegaly, Enl...	ORPHA:744
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss...	ORPHA:103918
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Steatorrhea, Cachexia, Duodenal ulcer	ORPHA:3217
Gerstmann-Straussler Disease	Aggressive behavior, Weight loss	OMIM:137440
Marshall-Smith Syndrome	Recurrent upper respiratory tract infections, Bilateral cryptorchidism, Aspiration pneumonia, Cry...	OMIM:602535
Rheumatoid Arthritis	Weight loss	OMIM:180300
Glucose-Galactose Malabsorption	Weight loss, Failure to thrive	ORPHA:35710
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent aspiration pneumonia, Recurrent pneumonia	OMIM:300472
Hereditary Pheochromocytoma-Paraganglioma	Adrenal pheochromocytoma, Weight loss, Extraadrenal pheochromocytoma	ORPHA:29072
Desmosterolosis	Joint contracture of the hand, Generalized osteosclerosis, Arthrogryposis multiplex congenita, To...	OMIM:602398
Unilateral Polymicrogyria	Abnormal posturing, Pseudobulbar paralysis	ORPHA:268943
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Increased bone mineral density, Pulmonary hypoplasia	ORPHA:50945
Doors Syndrome	Aspiration pneumonia, Congenital hypothyroidism, Adrenal hyperplasia, Sagittal craniosynostosis, ...	ORPHA:79500
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated circulating hepatic transaminase concentration, Recurrent respiratory infections, Supern...	ORPHA:397715
Pmm2-Cdg	Osteopenia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Increased ...	ORPHA:79318
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Kabuki Syndrome 1	Recurrent otitis media, Congenital hypothyroidism, Cryptorchidism, Joint hypermobility, Recurrent...	OMIM:147920
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Emphysema, Secretory IgA deficiency, Absent gallbladder, Joint h...	ORPHA:500150
Combined Oxidative Phosphorylation Deficiency 25	Aspiration pneumonia	OMIM:616430
Isolated Permanent Neonatal Diabetes Mellitus	Reduced pancreatic beta cells, Weight loss, Pancreatic hypoplasia, Failure to thrive	ORPHA:99885
Adult-Onset Autosomal Dominant Leukodystrophy	Impotence, Aspiration pneumonia, Erectile dysfunction, Anhidrosis, Decreased sweating due to auto...	ORPHA:99027
Coffin-Siris Syndrome 1	Facial hypertrichosis, Dry hair, Sparse scalp hair, Hypertrichosis, Intestinal malrotation, Long ...	OMIM:135900
Tay-Sachs Disease	Abnormal circulating enzyme concentration or activity, Aspiration pneumonia	ORPHA:845
Congenital Tracheal Stenosis	Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr...	ORPHA:141127
Mercury Poisoning	Interstitial pneumonitis	ORPHA:330021
Oculopharyngodistal Myopathy 1	High palate, Weight loss, Dysphagia	OMIM:164310
Congenital Fiber-Type Disproportion Myopathy	High palate, Weight loss, Dysphagia, Failure to thrive	ORPHA:2020
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Proximal Spinal Muscular Atrophy	Elbow flexion contracture, Multiple joint contractures, Knee flexion contracture, Recurrent infec...	ORPHA:70
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Reduced hepatic alanine-glyoxylate aminotran...	OMIM:259900
Reactive Arthritis	Dystrophic fingernails, Inflammation of the large intestine, Weight loss	ORPHA:29207
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Testicular microlithiasis, Weight loss, Stippled calcification in carpal bones	ORPHA:60025
Hutchinson-Gilford Progeria Syndrome	Dystrophic toenail, Ankyloglossia, Alopecia totalis, Loss of eyelashes, Severe failure to thrive,...	ORPHA:740
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Aspiration pneumonia, Cryptorchidism, Joint hypermo...	ORPHA:1465
Xfe Progeroid Syndrome	Cachexia, Failure to thrive	OMIM:610965
Cholera	Aspiration pneumonia	ORPHA:173
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short hard palate, Cachexia, Anorexia	ORPHA:1969
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Seckel Syndrome	Craniosynostosis, Cachexia, Sparse scalp hair	ORPHA:808
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral dens...	OMIM:620558
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Anomalous pulmonary venous return	ORPHA:99104
Opitz Gbbb Syndrome	Tracheomalacia, Cryptorchidism, Enlarged ovaries, Craniosynostosis, Recurrent aspiration pneumonia	ORPHA:2745
Marfan Syndrome	High, narrow palate, Osteopenia, Slender build, Cachexia, Attention deficit hyperactivity disorde...	ORPHA:558
Goodpasture Syndrome	Anemia, Weight loss	OMIM:233450
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection	ORPHA:79138
Primary Hyperoxaluria	Generalized osteosclerosis, Recurrent fractures, Elevated circulating hepatic transaminase concen...	ORPHA:416
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Peripheral pulmonary artery stenosis, Right ventricular hypertrophy, Recurrent aspiration pneumon...	ORPHA:280633
Miller-Dieker Lissencephaly Syndrome	Camptodactyly, Recurrent aspiration pneumonia, Joint contracture of the hand, Cryptorchidism	OMIM:247200
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
Arboleda-Tham Syndrome	Recurrent respiratory infections, Bilateral cryptorchidism, Recurrent otitis media, Conjunctiviti...	OMIM:616268
Stickler Syndrome	Bifid uvula, Gastroesophageal reflux, Slender build, Short hard palate, Cachexia, Macroglossia, G...	ORPHA:828
Fontaine Progeroid Syndrome	Coronal craniosynostosis, Absent nipple, Cryptorchidism, Hypoplastic nipples, Left ventricular hy...	OMIM:612289
Atrial Septal Defect, Ostium Secundum Type	Pneumonia	ORPHA:99103
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Frontal balding, Failure to thrive, Decreased testicular size, Hirsutism, Weight loss, Testicular...	ORPHA:90794
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Otitis media, Cryptorchidism, Joint hypermobility, Recurrent respiratory infections	ORPHA:353281
Primary Fanconi Renotubular Syndrome	Weight loss, Hypophosphatemic rickets, Osteomalacia	ORPHA:3337
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pneumonia, Otitis media, Cryptorchidism, Joint hypermobility, Recurrent respiratory infections, H...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pneumonia, Otitis media, Cryptorchidism, Joint hypermobility, Recurrent respiratory infections, H...	ORPHA:353277
Semilobar Holoprosencephaly	Central hypothyroidism, Aspiration pneumonia, Decreased response to growth hormone stimulation te...	ORPHA:220386
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
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Aspiration pneumonia	OMIM:619482
Lafora Disease	Recurrent aspiration pneumonia, Hepatic failure	ORPHA:501
Norrie Disease	Self-injurious behavior, Failure to thrive, Cryptorchidism, Cachexia, Attention deficit hyperacti...	ORPHA:649
Yunis-Varon Syndrome	Absent nipple, Aspiration pneumonia, Cryptorchidism, Decreased calvarial ossification, Decreased ...	OMIM:216340

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 Nfkb2

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 Nfkb2.

No publications found that use IMPC mice or data for Nfkb2.

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
Nfkb2^{tm119278(L1L2_Pgk_P)}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors
Nfkb2^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Nfkb2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Nfkb2^{tm1e(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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