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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 (1563 diseases)

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

Disease	Matching phenotypes	Source
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut...	ORPHA:1572
Immunodeficiency, Common Variable, 10	Recurrent oral herpes, Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tr...	OMIM:615577
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Psoriasiform dermatitis, Decrease...	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	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Lymphoma, Mucosa-Associated Lymphoid Type	Gastric lymphoma	OMIM:137245
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection...	OMIM:616452
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections, Decreased circulating IgG2 leve...	OMIM:615897
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga...	OMIM:609529
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near...	OMIM:614699
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Dyspnea, Mediastinal lymphadenopathy, ...	ORPHA:60026
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg...	OMIM:619220
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:608106
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Lym...	OMIM:619126
Histiocytosis, Familial Lipochrome	Recurrent infections, Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Squamous Cell Carcinoma Of The Esophagus	Cough, Lymphadenopathy	ORPHA:99977
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ...	OMIM:300400
Immunodeficiency 44	Severe viral infection, Decreased circulating total IgM, Post-vaccination measles, Abnormal circu...	OMIM:616636
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly...	OMIM:618987
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis	OMIM:619549
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobul...	ORPHA:98813
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can...	OMIM:242870
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Recur...	OMIM:240500
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu...	OMIM:301082
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, De...	OMIM:615559
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator...	OMIM:616005
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Immunodeficiency 50	Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib...	OMIM:300988
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ...	OMIM:619281
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Hepatitis, ...	ORPHA:169160
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Lymphoproliferative Syndrome 3	Severe varicella zoster infection, Hepatosplenomegaly, Decreased circulating antibody level, Lymp...	OMIM:618261
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P...	OMIM:616100
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Recurrent skin i...	OMIM:620210
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp...	OMIM:618982
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem...	OMIM:308240
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L...	OMIM:612840
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibo...	OMIM:618394
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir...	OMIM:618459
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Lymphadenop...	ORPHA:397596
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells, Decreased cir...	ORPHA:331206
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti...	OMIM:212050
Immunodeficiency 25	Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc...	OMIM:610163
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot...	OMIM:616941
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Immunodeficiency 11A	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C...	OMIM:615206
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent...	OMIM:617765
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node germinal cen...	ORPHA:277
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida...	OMIM:614069
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hepa...	OMIM:308230
Immunodeficiency 48	Hepatomegaly, Recurrent respiratory infections, Absence of CD8-positive T cells, Splenomegaly, Re...	OMIM:269840
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Gastric Cancer	Stomach cancer	OMIM:613659
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 95	Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul...	OMIM:619773
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Inc...	ORPHA:100024
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Acne, Recurrent sk...	OMIM:300635
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	T lymphocytopenia, Hypothyroidism, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportio...	OMIM:606367
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr...	ORPHA:2688
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:603909
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopa...	ORPHA:37748
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia	OMIM:618108
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Recurrent respiratory infections, Persistent EBV viremia, T lymp...	OMIM:619510
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level	OMIM:146830
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin...	OMIM:137100
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Immunodeficiency 92	Hepatomegaly, Recurrent oral herpes, Cholangitis, Persistent CMV viremia, Leukocytosis, BCGosis, ...	OMIM:619652
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig...	OMIM:619774
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Follicular hyperp...	OMIM:614470
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection...	ORPHA:275
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ...	OMIM:618048
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Lymphocytic intersti...	OMIM:618495
Adenocarcinoma Of The Esophagus	Cough, Lymphadenopathy	ORPHA:99976
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia	OMIM:615085
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc...	ORPHA:3261
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin...	ORPHA:169154
Cernunnos-Xlf Deficiency	Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu...	ORPHA:169079
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level	OMIM:616911
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Decreased circula...	OMIM:102700
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph...	OMIM:613101
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Absence of lymph node germinal center, Autoimmune thr...	OMIM:608184
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:158061
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly,...	OMIM:611490
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Kimura Disease	Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia	ORPHA:482
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Recur...	OMIM:619752
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Abnormal trabecular bone morphology, Splenomegaly, Recurrent pneumonia, Decreased c...	OMIM:612301
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Elevated total serum tryptase, Leuke...	ORPHA:157991
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea...	OMIM:614878
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, In...	OMIM:616098
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia...	OMIM:150550
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, T lymphocytopenia, Leukopenia, Neutropenia, Decreased...	OMIM:618986
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Rosaï-Dorfman Disease	Osteolysis, Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec...	ORPHA:381
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec...	OMIM:615122
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Whim Syndrome 1	Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac...	OMIM:193670
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ...	OMIM:166600
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge...	ORPHA:824
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno...	OMIM:602450
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia, Hypothyr...	OMIM:304790
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy...	OMIM:613953
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eosinophilia, Increased circulating IgE level, Recurrent pneumo...	OMIM:618282
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin...	ORPHA:47
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Sple...	OMIM:259700
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Antineutrophi...	OMIM:301078
Immunodeficiency 46	Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps...	OMIM:616740
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng...	ORPHA:3392
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash...	ORPHA:829
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter...	OMIM:202700
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Autoimmune thr...	OMIM:613011
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased...	ORPHA:83313
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Portal hypertension, ...	OMIM:613385
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Immunodeficiency 22	Abscess, Recurrent upper respiratory tract infections, Anemia, Decreased circulating total IgM, D...	OMIM:615758
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Conjunctiviti...	OMIM:603552
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas...	OMIM:617638
Q Fever	Respiratory distress, Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Cough,...	ORPHA:781
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level	OMIM:618042
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Dyspnea, ...	ORPHA:139402
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Reduced natural killer cell count	OMIM:241600
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Abnormal lymphatic vessel morphology, Decre...	ORPHA:90362
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Macronodular cirrhosis, Abnormal T cell morphology	OMIM:215250
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati...	OMIM:617099
Roifman Syndrome	Hip contracture, Hypogonadotropic hypogonadism, Eosinophilia, Eczema, Delayed proximal femoral ep...	ORPHA:353298
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Autoimmunity,...	ORPHA:83471
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Meningitis, Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Failure to ...	OMIM:601457
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG...	ORPHA:2137
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha...	ORPHA:42642
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Rheumatoid factor positive, Tachypnea, Leukopenia, Increased circulating IgG level, Pus...	OMIM:615934
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto t...	ORPHA:227990
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Recurrent respiratory infection...	OMIM:615767
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Reticular Dysgenesis	Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulating antib...	ORPHA:33355
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I...	ORPHA:183675
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Thrombo...	OMIM:259720
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Iron deficiency anem...	ORPHA:37042
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Osteoporosis, Lymphadenopathy, In...	ORPHA:98848
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase	OMIM:162830
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointe...	ORPHA:227982
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz...	OMIM:243700
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Ost...	OMIM:619381
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count	OMIM:609981
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent viral infections...	ORPHA:217390
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly, Osteopetrosis	OMIM:618541
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Legionnaires Disease	Pericarditis, Abnormal pleura morphology, Splenomegaly, Jaundice, Abnormal lung morphology, Recur...	ORPHA:549
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp...	OMIM:617006
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur...	ORPHA:545
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia...	OMIM:267500
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,...	OMIM:226990
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Chronic bronchitis, Hepatocellular carcinoma, Splenomegaly, Dyspne...	OMIM:613490
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec...	OMIM:301045
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection...	ORPHA:572
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur...	ORPHA:47612
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan...	ORPHA:54251
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Hepatic fibrosis, Cough, Decreased circulating IgG level, Hypothyroidis...	OMIM:620005
Ataxia-Telangiectasia	Decreased circulating IgG level, Sinusitis, Female hypogonadism, Recurrent bronchitis, Decreased ...	OMIM:208900
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Mediastinal lymphadenopathy, Pulmonary capillary hemangiomat...	OMIM:234810
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Immunodeficiency 27B	Generalized lymphadenopathy, Salmonella osteomyelitis, Osteomyelitis	OMIM:615978
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Impaired T cell function, Pure red cell aplasia, Autoimmu...	OMIM:613179
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut...	ORPHA:1572
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat...	OMIM:617744
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Melioidosis	Foot osteomyelitis, Brain abscess, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infe...	ORPHA:31202
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Sneddon Syndrome	Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia	OMIM:182410
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Immunodeficiency, Common Variable, 10	Recurrent oral herpes, Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tr...	OMIM:615577
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Hypere...	OMIM:615387
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa...	ORPHA:79124
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Ab...	ORPHA:229717
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Decreased circulating antibody level, Anemia, Leukopenia, Bone ...	OMIM:618116
Sézary Syndrome	Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, Lymphadeno...	ORPHA:3162
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce...	OMIM:618935
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Chronic...	OMIM:242860
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Lymphadenopathy	OMIM:254400
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Bloom Syndrome	Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-p...	ORPHA:125
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure	ORPHA:46532
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased...	OMIM:275350
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Gaucher Disease Type 1	Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Thrombocyt...	ORPHA:77259
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Eosinophilia, Abscess, Recurrent staphylococc...	OMIM:615816
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Osteolysis, Respiratory insufficiency, Lymphadenopathy, Hy...	ORPHA:391
Ataxia-Telangiectasia	Elevated hepatic transaminase, Recurrent respiratory infections, Abnormal testis morphology, Decr...	ORPHA:100
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Mediastinal lymphadenopathy, Abnormality on pulmonar...	ORPHA:133
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Asthma, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibod...	OMIM:619750
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Splenomegaly, Aplasia/Hypoplasia of the lungs, Abno...	ORPHA:2204
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Autoimmunity, Hypersplenis...	ORPHA:228426
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Desquamative inte...	OMIM:615952
Mogs-Cdg	Respiratory distress, Hepatomegaly, Hypoventilation, Pulmonary edema, Apnea, Cardiomegaly, Decrea...	ORPHA:79330
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig...	OMIM:300636
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk...	ORPHA:98850
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent...	OMIM:617780
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate	OMIM:137215
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ...	OMIM:617388
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Flexio...	OMIM:617591
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Chronic lung disease, Abnormal lymph node morphology	ORPHA:97290
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Chronic lung disease, Abnormal lymph node morphology	ORPHA:319487
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Inflammation of the large intestine, Respiratory insufficiency, L...	ORPHA:26790
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent respiratory infections, Apnea, Recurrent fractures, Craniosynostosis, Spl...	ORPHA:667
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Recurrent pneumonia, Osteo...	OMIM:613327
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,...	OMIM:612387
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Epista...	OMIM:614034
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Decreased c...	OMIM:616576
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Increased bone mineral density, Cortical sclerosis, Elevated circulating alk...	OMIM:620366
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pneumonia, Autoimmunity, Splenomegaly, Leukocytosis, Thyroiditis, Lym...	ORPHA:39041
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology	ORPHA:2584
Aspergillosis	Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Hepatitis,...	ORPHA:1163
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Pleural e...	ORPHA:85414
Graft Versus Host Disease	Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Stiff interphalangeal...	ORPHA:39812
Niemann-Pick Disease, Type B	Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenom...	OMIM:607616
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepatitis, B...	ORPHA:391487
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Exertional dyspnea	ORPHA:100083
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease...	OMIM:601495
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun...	ORPHA:100026
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Circulating immune complexes, Splenomegaly, Mediastinal lymphadeno...	ORPHA:91138
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency	ORPHA:139406
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Dec...	ORPHA:221139
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega...	OMIM:260920
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho...	OMIM:607765
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial ...	OMIM:613496
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ...	ORPHA:443811
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c...	OMIM:615482
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, A...	OMIM:607115
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnor...	ORPHA:420741
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect...	ORPHA:169105
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf...	ORPHA:2686
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru...	OMIM:619644
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Recurrent bacterial infections, Absent circulating B cells	OMIM:619693
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neo...	ORPHA:171
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Crohn's dis...	ORPHA:69126
Niemann-Pick Disease, Type A	Hepatomegaly, Recurrent respiratory infections, Elevated circulating aspartate aminotransferase c...	OMIM:257200
Xq28 (MECP2) duplication	Recurrent respiratory infections, Decreased circulating IgA level	DECIPHER:45
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Immunodeficiency 67	Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Castleman Disease	Abnormality of the gastrointestinal tract, Myelofibrosis, Increased circulating interleukin 6 con...	ORPHA:160
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho...	OMIM:615607
Complement Component C1S Deficiency	Abnormality of complement system, Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Mirage Syndrome	Cryptorchidism, Esophageal stricture, Radial club hand, Anemia, Leukopenia, Gastroesophageal refl...	OMIM:617053
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Abnormal circulating enzyme concentration or activity, Recurrent frac...	ORPHA:2785
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi...	ORPHA:289390
Complement Component 4B Deficiency	Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media	OMIM:614379
Desmosterolosis	Splenomegaly, Increased bone mineral density, Osteopetrosis, Anomalous pulmonary venous return	ORPHA:35107
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Increased circulating ...	ORPHA:74
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia	ORPHA:1802
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Asc...	ORPHA:858
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve...	OMIM:300291
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen, Dysphagia	ORPHA:89844
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Respiratory insufficiency due to muscle weakness,...	ORPHA:2905
Pediatric Systemic Lupus Erythematosus	Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep...	ORPHA:93552
Macrocephaly/Autism Syndrome	Joint laxity, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Hydrocele testis,...	OMIM:605309
Myasthenia Gravis	Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Dyspnea, Anti-acetylcholine r...	ORPHA:589
Dyskeratosis Congenita, Digenic	Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, D...	OMIM:620040
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c...	OMIM:301074
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu...	OMIM:147060
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Hashimoto thyr...	ORPHA:97285
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Cystic Echinococcosis	Abnormal peritoneum morphology, Abnormality of the testis size, Elevated gamma-glutamyltransferas...	ORPHA:400
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Eczema, Osteoporosis, Thyroiditis, Rickets, Iro...	OMIM:212750
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Roifman Syndrome	Hepatomegaly, Hip contracture, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphaden...	OMIM:616651
Sandhoff Disease	Splenomegaly, Hepatomegaly, Recurrent respiratory infections	ORPHA:796
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Crackles, Mediastinal lymphadenopathy, Dyspnea, Anemia, Reticular ...	OMIM:614742
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Increased bone mineral d...	ORPHA:77297
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Skin rash	OMIM:619175
Zika Virus Disease	Increased circulating IgM level, Infectious encephalitis, Thrombocytopenia, Meningitis	ORPHA:448237
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Atrophic gastritis, Ch...	OMIM:615846
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Cold Agglutinin Disease	Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Recurrent broncho...	OMIM:617303
Nephroblastoma	Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukoc...	OMIM:615688
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Alopecia, Cachexia, Malabsorption, Anorexia, Splenomegaly, Fu...	ORPHA:2930
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Immunoglobulin Kappa Light Chain Deficiency	Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level	OMIM:614102
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti...	OMIM:307200
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Multiple Myeloma	Osteopenia, Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, ...	ORPHA:29073
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngitis, Limitation of join...	ORPHA:108
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233710
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom...	ORPHA:210110
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,...	ORPHA:1451
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Decreased calvarial ossification, C...	ORPHA:313855
Brucellosis	Liver abscess, Rheumatoid factor positive, Bronchitis, Knee osteoarthritis, Hyperhidrosis, Leukop...	ORPHA:1304
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re...	OMIM:613807
Smith-Kingsmore Syndrome	Cryptorchidism, Wide anterior fontanel, Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Eczema, Elevated circulating aspartate aminotransferase conce...	OMIM:170100
Immunodeficiency 56	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo...	OMIM:615207
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Leukopenia, Increased circulatin...	ORPHA:319218
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Wheezing, Lymphadenopathy, Abnormality of the liver, Lym...	ORPHA:79456
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Lymphadenitis, Salmonella osteomyelitis, Pneumonia	ORPHA:319552
Mccune-Albright Syndrome	Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Hepatitis, Ovarian cyst, Increased circulati...	ORPHA:562
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod...	ORPHA:79126
Acquired Partial Lipodystrophy	Lymphocytosis	ORPHA:79087
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Abnormali...	ORPHA:2552
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Fluctuating hepatomegaly...	OMIM:610377
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Immunodeficiency 12	Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count, Recurrent ...	OMIM:615468
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233690
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE level, Eosino...	OMIM:618523
Immunodeficiency 77	Recurrent tonsillitis, Bronchiectasis, Chronic pulmonary obstruction, Cutaneous abscess	OMIM:619223
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure	ORPHA:60
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Abnormal gastric mucosa mor...	ORPHA:2494
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma	OMIM:619182
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Atopic dermatitis, Hypochromic microcytic anemia, Respiratory failure, Osteopetrosis, Thrombocyto...	ORPHA:3240
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell...	OMIM:603553
Proteus Syndrome	Splenomegaly, Facial hyperostosis, Calvarial hyperostosis, Lymphangioma, Mandibular hyperostosis,...	OMIM:176920
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Sp...	OMIM:228000
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hepatomegaly, Pericarditis, Elevated hepatic transaminase, Premature ovarian insuffic...	OMIM:212065
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo...	ORPHA:101096
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Mixed Connective Tissue Disease	Myositis, Xerostomia, Leukopenia, Hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Ly...	ORPHA:809
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Gracile Bone Dysplasia	Asplenia, Decreased skull ossification, Hypoplastic spleen, Failure to thrive, Ankyloglossia	OMIM:602361
Epidermodysplasia Verruciformis, Susceptibility To, 4	Increased proportion of exhausted T cells	OMIM:618307
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Anhidrosis, Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopath...	ORPHA:169090
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density	ORPHA:172
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Flexion contracture, Hypogonadism, Joint contracture	OMIM:608540
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinucle...	OMIM:607944
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Skin rash, Autoimmunity, Splenomegaly, Dyspnea, Uveitis, Lymphadenopa...	ORPHA:36412
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower...	ORPHA:882
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Recurrent fractures	ORPHA:417
Rhabdoid Tumor	Thrombocytopenia, Respiratory insufficiency, Lymphadenopathy, Neoplasm of the liver, Anemia	ORPHA:69077
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Flexion contr...	ORPHA:77260
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis...	OMIM:613313
Bloom Syndrome	Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidism, Recurrent upper respirat...	OMIM:210900
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Autoimmunity, Leukocytosis, Abnormal lactate dehydrogenase level, Bone ma...	ORPHA:98827
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Respiratory insufficiency, Anemia, Increased ...	OMIM:617021
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania...	OMIM:231095
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Systemic lupus erythematosus, Leukopen...	OMIM:616871
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul...	ORPHA:263665
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat...	ORPHA:562639
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Panhypogammaglobulinemia, Recurrent infections	ORPHA:251009
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism...	ORPHA:3260
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Villous atrophy, Microcytic anemia, Malabsorption, Increase...	ORPHA:398063
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level	ORPHA:1296
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites	OMIM:269920
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss	ORPHA:79238
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, O...	ORPHA:79301
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Portal hypertension, Sagittal craniosynostosis, Pancreatic cysts, Splen...	OMIM:610199
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg...	OMIM:608233
Avian Influenza	Respiratory distress, Elevated hepatic transaminase, Pneumonia, Productive cough, Nonproductive c...	ORPHA:454836
Gaucher Disease	Osteopenia, Osteoarthritis, Hepatomegaly, Increased bone mineral density, Hepatitis, Respiratory ...	ORPHA:355
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino...	ORPHA:293173
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,...	OMIM:266265
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Autoimmunity, Chylous ascites, Decreased circulating antibody l...	ORPHA:90363
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:620010
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:614480
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice, Decreased beta-galactosidase activity	OMIM:230350
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenome...	OMIM:612714
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Hepatomegaly, Craniosynostosis, Limited elbow movement, Decrease...	ORPHA:508533
Spondylometaphyseal Dysplasia, Axial	Splenomegaly, Reduced sperm motility, Recurrent pneumonia, Restrictive ventilatory defect	OMIM:602271
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Autoimmuni...	ORPHA:449432
Scrub Typhus	Anterior uveitis, Skin rash, Splenomegaly, Dyspnea, Myocarditis, Lymphadenopathy, Restrictive ven...	ORPHA:83317
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Increased circulating IgA level, Peritonitis, Limitation of joint mobility, Lymphad...	ORPHA:343
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,...	ORPHA:90045
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Thymoma, Chronic hepatitis, Keratoconjunc...	OMIM:269200
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ...	ORPHA:228123
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Increased bone mineral density, Spl...	ORPHA:77261
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Abnormal pleura morphology, Joint stiffness, Splenomegaly, Hepa...	ORPHA:584
Icf Syndrome	Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve...	ORPHA:2268
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt...	ORPHA:231401
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc...	OMIM:610333
X-Linked Sideroblastic Anemia	Dyspnea, Splenomegaly, Anemia, Elevated hepatic transaminase	ORPHA:75563
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia	OMIM:618107
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Lassa Fever	Increased circulating IgM level, Jaundice, Sepsis	ORPHA:99824
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia	OMIM:207731
Rasmussen Subacute Encephalitis	Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo...	ORPHA:1929
Neuronal Intestinal Pseudoobstruction	Recurrent infections, Decreased circulating antibody level	ORPHA:99811
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:278000
Coproporphyria, Hereditary	Splenomegaly, Hepatomegaly, Jaundice, Respiratory paralysis	OMIM:121300
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Spo...	OMIM:214500
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad...	OMIM:617718
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Pulmonary embolism, Decreased circulating antibody level, Iron deficiency anemia, T...	OMIM:226300
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Arthritis, Azoospermia, Infertility, C...	OMIM:602390
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy, Recurrent infections	OMIM:251240
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
American Trypanosomiasis	Hepatomegaly, Skin rash, Splenomegaly, Dyspnea, Myocarditis, Lymphadenopathy, Cough, Infectious e...	ORPHA:3386
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Atelectasis, Dyspnea, Asthma, Bronchiectasis...	OMIM:620233
Simple Cryoglobulinemia	Viral hepatitis, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia...	ORPHA:91139
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy	ORPHA:2483
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thrombocyto...	ORPHA:520
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Neoplasm of th...	ORPHA:142
Kaposi Sarcoma	Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Abnormal lung morphology, Abno...	ORPHA:33276
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency...	OMIM:240300
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Atelecta...	OMIM:620321
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we...	ORPHA:2590
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Infectious encepha...	ORPHA:73263
Primary Biliary Cholangitis	Portal hypertension, Increased circulating IgA level, Jaundice, Hepatitis, Biliary cirrhosis, Abn...	ORPHA:186
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level	OMIM:616910
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Oligoarthri...	OMIM:142680
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Ascites, Anemia	ORPHA:1046
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Igg4-Related Aortitis	Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c...	ORPHA:449400
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Cryoglobulinemia, Epistaxis, Abnormality of neutrophils, Splenom...	ORPHA:33226
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Interstitial Lung Disease 2	Increased circulating antibody level, Cirrhosis	OMIM:178500
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Medullary Thyroid Carcinoma	Neoplasm of the lung, Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Ulcerative colitis, Anemia	OMIM:619398
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Osteopenia, Aplastic anemia, Eosinoph...	ORPHA:486
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti...	OMIM:244400
Congenital Enterovirus Infection	Respiratory distress, Abnormal macrophage morphology, Skin rash, Fetal ascites, Thrombocytopenia,...	ORPHA:292
Kawasaki Disease	Pericarditis, Skin rash, Recurrent pharyngitis, Cervical lymphadenopathy, Myocarditis, Leukocytos...	ORPHA:2331
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Decreased circulating IgG2 level	ORPHA:2571
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno...	OMIM:616828
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Recurrent infections, Increased circulating IgA level, Neutropenia	OMIM:616395
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development	Hiatus hernia	OMIM:272000
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Alveolar Echinococcosis	Liver abscess, Pulmonary cyst, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pan...	ORPHA:284
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Nonproductive cough, Asthma, Dysp...	ORPHA:97287
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Limitation of joint mobility, Rhinitis	ORPHA:93476
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly...	OMIM:614576
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Lymphadenopath...	ORPHA:50918
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Pure red cell a...	ORPHA:99867
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Crackles, Nonproductive cough, Leukocytosis, Increased circulating IgE level, Hyper...	ORPHA:2902
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r...	OMIM:612444
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Dyspnea, Flexion contracture, Osteoporosis, Ascites	ORPHA:87876
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytop...	ORPHA:79312
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Mediastinal lymphadenopathy, Pulmonary capillary he...	ORPHA:199241
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphadenopathy, Acute leukemia, Hypoth...	ORPHA:99812
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Esophageal varix, Steatorrhea, Anemia	ORPHA:75233
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Hypopigmentation of hair, Failure to thrive, Albini...	OMIM:242840
Hennekam Syndrome	Recurrent respiratory infections, Camptodactyly of finger, Craniosynostosis, Splenomegaly, Pulmon...	ORPHA:2136
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Retrop...	ORPHA:79078
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, P...	ORPHA:199299
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile...	OMIM:619079
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Epiphys...	OMIM:256550
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Congenital Disorder Of Glycosylation, Type Ig	Recurrent pneumonia, Recurrent upper respiratory tract infections, Decreased circulating total Ig...	OMIM:607143
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Microcytic anemia, Cardiomegaly, Flexion contr...	OMIM:256040
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Leukocytosis, Dysphagia, ...	ORPHA:2070
Systemic Lupus Erythematosus	Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Antinuclear antibody positivity, Anti-La/S...	ORPHA:536
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno...	OMIM:181000
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Hepatomegaly, Recurrent pneumonia	OMIM:615637
Igg4-Related Kidney Disease	Rheumatoid factor positive, Lymphadenitis, Abnormal lung morphology, Increased circulating IgG le...	ORPHA:449395
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Sepsis, Hepatosplenomegaly, Anemia, Leukopenia, Increased circu...	ORPHA:505248
Rift Valley Fever	Jaundice, Severe viral infection, Hepatitis, Anemia, Increased circulating IgG level, Increased c...	ORPHA:319251
Gray Platelet Syndrome	Myelofibrosis, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alph...	OMIM:139090
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Psoriasiform dermatitis, Decrease...	ORPHA:293978
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Pearson Syndrome	Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Small for gestational age, Decre...	ORPHA:699
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor...	ORPHA:1855
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Mac...	ORPHA:398124
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin...	OMIM:214900
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, C...	OMIM:615895
H Syndrome	Psoriasiform dermatitis, Recurrent fractures, Microcytic anemia, Recurrent pharyngitis, Bronchiec...	ORPHA:168569
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis,...	ORPHA:449563
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Infe...	OMIM:267700
Asbestos Intoxication	Reduced vital capacity, Lung adenocarcinoma, Reduced forced vital capacity, Mediastinal lymphaden...	ORPHA:2302
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inf...	ORPHA:83617
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla...	ORPHA:2198
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Chronic Granulomatous Disease	Recurrent respiratory infections, Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of ...	ORPHA:379
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Malt Lymphoma	Recurrent respiratory infections, Mediastinal lymphadenopathy, Lymphadenopathy, Posterior uveitis...	ORPHA:52417
Iga Pemphigus	Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous...	ORPHA:555905
Lymphatic Filariasis	Glomerulonephritis, Circulating immune complexes, Lymphadenitis, Abnormal lung morphology, Abnorm...	ORPHA:2035
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Hepatomegaly, Skin rash, Eczema, Crackles, Respiratory tract infection,...	ORPHA:79128
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Alg12-Cdg	Elevated hepatic transaminase, Recurrent respiratory infections, Abnormal circulating enzyme conc...	ORPHA:79324
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody level	OMIM:248500
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respi...	OMIM:618278
Essential Thrombocythemia	Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level	OMIM:618165
Wilson Disease	Acute hepatic failure, Osteoarthritis, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Hemol...	OMIM:277900
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Cutaneous Mastocytoma	Dyspnea, Maculopapular exanthema, Elevated total serum tryptase, Lymphadenopathy	ORPHA:79455
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom...	OMIM:235200
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad...	ORPHA:91359
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Thrombocytopenia	OMIM:231000
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Elev...	OMIM:613489
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Normochromic anemia, Gastroesophageal reflux, Neutropenia, Abnormal posturing, Fa...	OMIM:614857
Hemochromatosis, Type 3	Lymphopenia, Anemia, Neutropenia	OMIM:604250
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Antineutrophil antibod...	ORPHA:464370
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Eczema, Elbow contracture, Asthma, Delayed pubic bone ossification, Knee flexi...	OMIM:618162
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Antiphospholipid antibody positivity, Rheumat...	ORPHA:90060
Free Sialic Acid Storage Disease	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Reduced bone mineral density, Ascites	ORPHA:834
Esophageal Ring, Lower	Dysphagia, Hiatus hernia	OMIM:133240
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrog...	ORPHA:85212
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymph...	ORPHA:85450
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Cough, Dyspnea	ORPHA:99868
Pediatric-Onset Graves Disease	Episcleritis, Hepatomegaly, Elevated hepatic transaminase, Autoimmunity, Craniosynostosis, Kerati...	ORPHA:525731
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Osteopenia, Pancytopenia, Portal hypertension, Esophageal varix, Pre...	OMIM:617341
Tick-Borne Encephalitis	Meningitis, Leukocytosis, Unusual CNS infection, Leukopenia, Increased circulating IgG level, Inc...	ORPHA:297
Dietary Iron Overload Disease	Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Peritonitis, Micronodular cirrhosis, Abn...	ORPHA:139507
Farber Disease	Respiratory distress, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or...	ORPHA:333
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Nodular pattern on pulmonary HRCT, ...	ORPHA:99931
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hepa...	ORPHA:167
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Skin rash, Cholestasis	OMIM:105200
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Hypoplasia of the ...	ORPHA:436252
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Idiopathic Achalasia	Weight loss, Gastroesophageal reflux, Dysphagia	ORPHA:930
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ...	ORPHA:36234
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level	ORPHA:85317
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ...	OMIM:618213
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Increased circulating lacta...	ORPHA:232
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Recurrent respiratory infections, Abnormality of the pancreas, Agammaglobulinemia, Lymphopenia, A...	ORPHA:935
Netherton Syndrome	Recurrent respiratory infections, Increased circulating IgE level, Hypereosinophilia, Sepsis, Dec...	OMIM:256500
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo...	ORPHA:662
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Hereditary Orotic Aciduria	Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia	ORPHA:30
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Myelofibrosis, Portal hypertension, Portal vein thromb...	ORPHA:729
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Lymphadenopathy, Macroglossia, ...	ORPHA:2221
Atelis Syndrome 1	Decreased lymphocyte proliferation in response to anti-CD3, Eczema, Bronchiectasis, Anemia, Leuko...	OMIM:620184
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Abnormality of the pulmonary artery, Thr...	ORPHA:290
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, ...	ORPHA:32960
Lysinuric Protein Intolerance	Osteopenia, Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial...	ORPHA:470
Kaposiform Lymphangiomatosis	Metrorrhagia, Epistaxis, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Abnormality of...	ORPHA:464329
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morpholog...	ORPHA:449427
Alpha-Mannosidosis, Adult Form	Osteopenia, Pancytopenia, Pneumonia, Hepatosplenomegaly	ORPHA:309288
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Restrictiv...	ORPHA:575
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthritis, Oligoarthri...	ORPHA:85408
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Sweet Syndrome	Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Leukocyt...	ORPHA:3243
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Skin rash, ...	OMIM:612852
Ciliary Dyskinesia, Primary, 44	Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit...	OMIM:618781
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lympha...	ORPHA:509
Alopecia Antibody Deficiency	Recurrent respiratory infections, Decreased circulating antibody level	ORPHA:1006
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Recurrent infections, Decreased circulating antibody level, Lymphopenia, Hepatic cysts	OMIM:617425
Joubert Syndrome 33	Splenomegaly, Apnea	OMIM:617767
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Flexion contracture of finger, Hypergonadotropic hypogonadism, Decrea...	OMIM:602782
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice	OMIM:618892
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Hepatitis	ORPHA:363523
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Dyspnea, Abnor...	OMIM:242900
Dubowitz Syndrome	Aplastic anemia, Eczema, Cryptorchidism, Acute lymphoblastic leukemia, Otitis media, Decreased ci...	OMIM:223370
Microlissencephaly	Pneumonia	ORPHA:1083
Alpha-Mannosidosis	Hepatomegaly, Recurrent respiratory infections, Craniofacial hyperostosis, Splenomegaly, Arthriti...	ORPHA:61
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Abnormal lymphocyte proliferation, Elevated gamma-glutamyltransferase level, ...	OMIM:619573
Carcinoid Syndrome	Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Asthma, Hepatic necrosis, B...	ORPHA:100093
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Neonatal asphyxia, Flexion contracture, Hepatitis, Cholestasis, Hypochromic ...	ORPHA:440713
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Recurrent infections	OMIM:618985
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In...	ORPHA:93941
Syndromic Diarrhea	Hepatomegaly, Gastritis, Increased mean platelet volume, Splenomegaly, Hypothyroidism, Abnormalit...	ORPHA:84064
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegal...	OMIM:211600
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lym...	ORPHA:1333
Whipple Disease	Hepatomegaly, Myositis, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocarditis, Hyp...	ORPHA:3452
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia	OMIM:616069
Pyoderma Gangrenosum	Myeloid leukemia, Increased circulating antibody level	ORPHA:48104
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased respo...	ORPHA:811
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Dystonia 31	Abnormal posturing, Dysphagia	OMIM:619565
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Joint hypermobility, Microvesicular hep...	OMIM:619418
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Joint stiffness, Splenomegaly, Recurrent upper respiratory tract infe...	OMIM:252920
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Osteopetrosis, Facial hyperostosis, Spina bifida occulta, Coarse ...	ORPHA:2780
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Sy...	ORPHA:90033
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i...	OMIM:230800
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis	OMIM:618476
Pulmonary Blastoma	Weight loss	ORPHA:64741
Crimean-Congo Hemorrhagic Fever	Stiff neck, Hyperhidrosis, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecyst...	ORPHA:99827
Eosinophilopenia	Decreased eosinophil count, Autoimmunity, Allergic rhinitis	OMIM:131430
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Atrophic muscu...	ORPHA:298
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia, Anhidrosis	OMIM:614979
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Dyspnea, Osteoporosis, Hepatic necrosis, Leukopenia, Interstit...	OMIM:127550
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory...	OMIM:615451
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp...	ORPHA:131
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Primary Ciliary Dyskinesia	Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility, Neonatal respiratory d...	ORPHA:244
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:616726
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp...	ORPHA:36238
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Impaired T cell function, Splenomegaly, Low alkaline phosphatase, Hypogonadism, Dec...	OMIM:201100
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Erythrocytosis, Familial, 1	Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion...	OMIM:133100
Japanese Encephalitis	Neutrophilia, Meningitis, Increased circulating IgM level, Increased circulating antibody level, ...	ORPHA:79139
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce...	ORPHA:90186
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Poikiloderma With Neutropenia	Joint laxity, Skin rash, Joint stiffness, Splenomegaly, Recurrent bronchopulmonary infections, Re...	OMIM:604173
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukop...	ORPHA:508542
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Attention deficit hypera...	OMIM:619151
Shigellosis	Acute colitis, Abscess, Pneumonia, Myocarditis, Leukocytosis, Peritonitis, Cholestasis, Uveitis, ...	ORPHA:810
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary...	ORPHA:2414
Hypoglossia With Situs Inversus	Asplenia, Microglossia, High palate, Polysplenia	OMIM:612776
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p...	ORPHA:760
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Myopathy With Extrapyramidal Signs	Joint laxity, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Leukocytosis	OMIM:615673
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Myelofibrosis	Myelofibrosis, Splenomegaly, Myeloproliferative disorder	OMIM:254450
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,...	OMIM:131300
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circu...	ORPHA:79332
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Sarcoidosis	Increased T cell count, Abnormal lung morphology, Uveitis, Leukopenia, Tubulointerstitial nephrit...	ORPHA:797
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Dysmenorrhea, Splenomegaly, Abnormality of complement system, Secondary amenorrhea,...	ORPHA:2348
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Joint stiffness, Splenomegaly, Recurrent upper respiratory tract infections, Dense ...	OMIM:252900
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Incr...	OMIM:210250
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Ankle flexion contracture, Spl...	OMIM:608799
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Autoimmunity, Abnormal lymphocyte physiology, Minimal change glomerulon...	ORPHA:1830
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Abnormal cir...	ORPHA:101330
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Asthma, Wide ...	OMIM:606003
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Skin rash, Pneumonia, Decreased circulating complement factor B concentration, ...	ORPHA:2298
12Q14 Microdeletion Syndrome	Abnormality of the spleen, Osteopoikilosis	ORPHA:94063
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Typhoid	Hepatomegaly, Skin rash, Epistaxis, Splenomegaly, Abnormal pulmonary interstitial morphology, Cou...	ORPHA:99745
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate...	OMIM:214950
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Chondritis	ORPHA:564003
Listeriosis	Respiratory distress, Liver abscess, Stiff neck, Abnormal cellular immune system morphology, Gran...	ORPHA:533
Thymic Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Med...	ORPHA:97289
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Villous atrophy, Small for gestational age, Portal hypertension, Biliary hyperplasi...	ORPHA:567983
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Osteomesopyknosis	Increased bone mineral density, Infertility	OMIM:166450
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet...	OMIM:153670
Ciliary Dyskinesia, Primary, 39	Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp...	OMIM:618254
Centrifugal Lipodystrophy	Lymphadenitis, Inflammatory abnormality of the skin	ORPHA:90156
Cowden Syndrome 1	Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian cys...	OMIM:158350
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly, Elevated hepatic transaminase	OMIM:306000
Isolated Osteopoikilosis	Increased bone mineral density, Abnormally ossified vertebrae, Autoimmunity, Sclerosis of foot bo...	ORPHA:166119
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Osteopenia, Craniosynostosis, Abnormal lung lobation, Low alkaline phosphatas...	ORPHA:369837
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne...	OMIM:300908
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash...	OMIM:618549
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ...	OMIM:612541
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Bone-marrow foam cells, Fetal ascites, Low cholester...	OMIM:607625
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Anorexia, Weight loss	ORPHA:2023
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Anemia, Leukope...	OMIM:603467
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec...	OMIM:618131
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem...	ORPHA:31204
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase...	ORPHA:3202
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Osteopenia, Red...	ORPHA:79329
Caroli Disease	Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Sple...	ORPHA:53035
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase...	OMIM:224120
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Exertional dyspnea	ORPHA:90037
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:264580
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Malabsorption, Anorexia, Xerostomia, Hamartomatous polyposis, Hematochezia, P...	OMIM:175500
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Sepsis In Premature Infants	Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, ...	ORPHA:90051
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Low choleste...	OMIM:257220
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Attention deficit hyperactivity diso...	ORPHA:281090
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Bronchospasm, Chronic noninfectious lymphadenopathy	ORPHA:100080
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Myelofibrosis, Increased RBC distribution width, Macrothrombocytopen...	OMIM:187900
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Elevated circulating...	OMIM:601847
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Yellow Fever	Acute pancreatitis, Neutrophilia, Increased circulating interleukin 6 concentration, Jaundice, Le...	ORPHA:99829
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Acne, Elevated circulating growth hormone concentration, Seborrheic ...	ORPHA:2796
C3 Glomerulopathy	Recurrent infections, Paraproteinemia, Decreased circulating complement C3 concentration, Decreas...	ORPHA:329918
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Sandifer Syndrome	Hiatus hernia, Hematemesis, Gastroesophageal reflux, Esophagitis, Abnormal posturing, Anemia	ORPHA:71272
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Premature ovarian insufficiency, Dysgammaglobulinemia, Re...	OMIM:251260
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Joint stiffness, Splenomegaly, Decreased beta-galactosidase activity, Sea-blue hist...	OMIM:230600
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:300991
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Reticulocytosis, Pericarditis, Maculopapular exanthema, Skin rash,...	ORPHA:99826
Myotonic Dystrophy 2	Oligozoospermia, Decreased circulating total IgM, Hypogonadism, Elevated circulating follicle sti...	OMIM:602668
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El...	OMIM:235555
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology	ORPHA:234
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Joint stiffness, Splenomegaly, Recurrent upper respiratory tract infections, Dense ...	OMIM:252930
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Premature ovarian insufficiency	ORPHA:75325
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Antiphospholipid antibody positivity, Chilblains, Sp...	OMIM:225750
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Trichohepatoenteric Syndrome 1	Hepatomegaly, Increased mean platelet volume, Abnormality of the pancreas, Splenomegaly, Jaundice...	OMIM:222470
Adenocarcinoma Of The Anal Canal	Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure	ORPHA:664
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Autoimmunity, Splenomegaly, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Osteosclerotic Metaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Clavicul...	OMIM:615198
Pycnodysostosis	Joint laxity, Increased bone mineral density, Decreased response to growth hormone stimulation te...	ORPHA:763
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent upper respiratory tract infecti...	OMIM:614868
Opsismodysplasia	Hepatomegaly, Abnormally ossified vertebrae, Recurrent respiratory infections, Joint stiffness, S...	ORPHA:2746
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract abnormality,...	ORPHA:90003
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Weight loss...	OMIM:613662
Say-Barber-Miller Syndrome	Eczema, Craniosynostosis, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of in...	ORPHA:3132
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogona...	OMIM:203800
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Antinuclea...	OMIM:613471
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect...	OMIM:611884
Spinocerebellar Ataxia, Autosomal Recessive 20	Splenomegaly, Hepatomegaly, Camptodactyly	OMIM:616354
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Takayasu Arteritis	Anorexia, Gastrointestinal infarctions, Anemia, Weight loss	ORPHA:3287
Acute Lung Injury	Increased circulating interleukin 6 concentration, Acute pancreatitis, Addictive alcohol use, Abn...	ORPHA:178320
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615505
Tuberculosis	Weight loss	ORPHA:3389
Gm1-Gangliosidosis, Type I	Hepatomegaly, Joint stiffness, Splenomegaly, Vacuolated lymphocytes, Decreased beta-galactosidase...	OMIM:230500
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:608644
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Monosomy 18Q	Bilateral cryptorchidism, Secondary growth hormone deficiency, Hypothyroidism, Joint hypermobilit...	ORPHA:1600
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit...	OMIM:617050
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hepatic failure, Biliary cirrhosis, Ch...	OMIM:617394
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ovaries, Primary ameno...	ORPHA:79083
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Decreased...	ORPHA:247598
Microphthalmia, Syndromic 9	Cryptorchidism, Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona...	ORPHA:1164
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Trichothiodystrophy	Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c...	ORPHA:33364
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Cryptorchidism, Cranial hyperostosis, Limitation of joint mobilit...	ORPHA:2658
Tarp Syndrome	Cryptorchidism, Extramedullary hematopoiesis, Apnea, Pulmonary hypoplasia	ORPHA:2886
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc...	OMIM:615481
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure	OMIM:615630
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pn...	OMIM:230900
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss, High palate, Decreased intestinal transit time	OMIM:620045
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthrit...	ORPHA:342
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:612649
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arth...	OMIM:249100
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ...	OMIM:610910
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Solitary Rectal Ulcer Syndrome	Anal fissure, Rectal prolapse, Hematochezia, Anemia, Compulsive behaviors, Decreased body weight,...	ORPHA:209964
Aredyld Syndrome	Hepatomegaly, Craniofacial hyperostosis, Cachexia, Splenomegaly, Sparse body hair, Aplasia/Hypopl...	ORPHA:1133
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Skin rash, Aplastic anemia, Reduced bone mineral...	ORPHA:2909
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Portal hypertension	OMIM:616589
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse...	ORPHA:79127
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Premature graying of hair, Anemia, Nail dystrop...	ORPHA:3322
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Hepatomegaly, Howell-Joll...	ORPHA:85443
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi...	OMIM:615512
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Acute hepatitis, Decreased liver function, Hepatomegaly	OMIM:238970
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, D...	OMIM:617092
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Craniofacial osteosclerosis, Osteolysis, Weight loss, Hyperostosis, Inflammation of the large int...	ORPHA:324964
Scedosporiosis	Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br...	ORPHA:449280
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615500
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Th...	OMIM:251290
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Abnormally ossified vertebrae, Pulmonary hypoplasia	ORPHA:3035
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep...	OMIM:619377
Scheie Syndrome	Hepatomegaly, Joint stiffness, Splenomegaly, Limitation of joint mobility, Rhinitis	ORPHA:93474
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Increased circulating IgE level, Eosinophilia, Recurrent infect...	ORPHA:2314
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splen...	OMIM:611881
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Anorexia, Weight loss	ORPHA:1302
Carney Triad	Mediastinal lymphadenopathy, Adrenal overactivity, Lymphadenopathy, Pheochromocytoma, Ascites, An...	ORPHA:139411
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co...	ORPHA:399
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Bronchospasm, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Bronchospasm, Chronic noninfectious lymphadenopathy	ORPHA:100082
Lysinuric Protein Intolerance	Hepatomegaly, Recurrent fractures, Splenomegaly, Osteoporosis, Intraalveolar phospholipid accumul...	OMIM:222700
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Recurrent fractures, Ab...	ORPHA:1775
Trichohepatoenteric Syndrome 2	Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis	OMIM:614602
Gm1 Gangliosidosis	Splenomegaly, Hepatosplenomegaly, Weight loss, Macroglossia, Gastroesophageal reflux, Dysphagia, ...	ORPHA:354
Netherton Syndrome	Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections, Decrease...	ORPHA:634
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Hematemesis, Weight loss, Melena, ...	ORPHA:100075
Hurler-Scheie Syndrome	Hepatomegaly, Recurrent respiratory infections, Camptodactyly of finger, Joint stiffness, Splenom...	OMIM:607015
Mucopolysaccharidosis Type 6	Sinusitis, Joint stiffness, Splenomegaly, Recurrent upper respiratory tract infections, Chronic o...	ORPHA:583
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Dysphagia	OMIM:304700
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Bon...	ORPHA:88
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Oste...	OMIM:232220
Beemer-Ertbruggen Syndrome	Cryptorchidism, Increased bone mineral density, Respiratory insufficiency, Thrombocytopenia	ORPHA:1237
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Hepatomegaly, Respiratory failure requiring assisted ventilation, Autoimmune thromboc...	ORPHA:77293
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Hyper...	ORPHA:2969
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Adult Acute Respiratory Distress Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:70578
Tangier Disease	Splenomegaly, Hepatomegaly, Left ventricular hypertrophy	OMIM:205400
Blau Syndrome	Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Splenomegaly, Retrobulbar optic neur...	ORPHA:90340
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Leukocytosis, Gastrointestina...	ORPHA:67
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Osteoporosis, Weight los...	OMIM:619487
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, High palate, Bone marrow hypocellularity, Neutropenia, Failure...	OMIM:614520
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Failure to thrive, Anemia, Weight loss	ORPHA:1842
Reynolds Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Gastroesophageal reflux, ...	ORPHA:779
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Hyperhidrosis, Pulmonary arte...	ORPHA:71493
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di...	OMIM:613404
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Benign Recurrent Intrahepatic Cholestasis	Anorexia, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocell...	ORPHA:65682
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Prolidase Deficiency	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Crusting erythematous dermatitis, R...	ORPHA:742
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Premature ovarian insufficiency, Aplastic anemia...	ORPHA:221008
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Recurrent fractures, Splenomegaly, Dyspnea, Tachypnea, Primary hyperparathyroidism,...	OMIM:239200
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Anti-Glomerular Basement Membrane Disease	Autoimmunity, Respiratory insufficiency, Arthritis, Cough, Anemia	ORPHA:375
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia	OMIM:618253
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,...	ORPHA:542643
Familial Tumoral Calcinosis	Hepatomegaly, Skin rash, Splenomegaly, Hyperhidrosis, Hyperostosis	ORPHA:53715
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Hepatomegaly, Splenomegaly, Defective production of NFKB1-dependent cytokines,...	OMIM:612132
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis...	OMIM:301072
Chronic Hiccup	Abnormal eating behavior, Weight loss	ORPHA:396
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia, Weight loss	ORPHA:3165
Huntington Disease-Like 1	Restlessness, Abnormal posturing, Weight loss	ORPHA:157941
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Pulmonary arterial hypertension, Right ventr...	OMIM:616028
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Pulmonary embolism, Orchitis, Sple...	ORPHA:117
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Extrahepatic...	ORPHA:100078
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re...	OMIM:613808
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Weight loss, Attention deficit hyperactivity disorder, Dysphagia	ORPHA:216866
Lichen Planopilaris	Hepatitis	ORPHA:525
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Cachexia, Hypersplenism, Microvesicular hepatic steatosis, Jaundice, Vacu...	ORPHA:275761
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Thin eyebrow, Abnormally low T cell receptor excision circle level	OMIM:618092
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia...	OMIM:608013
Liver Failure, Infantile, Transient	Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Decre...	OMIM:613070
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Retroper...	ORPHA:35687
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Decreased iduronate sulfatase level, Splenomegaly, Asthma, Recurrent pneumonia, Fle...	OMIM:309900
Oculoskeletodental Syndrome	Hepatomegaly, Splenomegaly, Cryptorchidism, Elbow flexion contracture, Hypothyroidism	OMIM:618440
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr...	ORPHA:210122
Vici Syndrome	Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent respiratory infectio...	ORPHA:1493
Holocarboxylase Synthetase Deficiency	Anorexia, Alopecia, Thrombocytopenia, Weight loss	ORPHA:79242
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,...	OMIM:122860
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Abnormality of the lymphatic system, Pneu...	ORPHA:538
Overlap Myositis	Elevated hepatic transaminase, Autoimmunity, Antinuclear antibody positivity, Abnormal pulmonary ...	ORPHA:206572
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ...	OMIM:216360
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ...	ORPHA:565612
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Increased hepatic glycogen content, Enlarged tonsils, Autoimmunity	ORPHA:293964
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit...	OMIM:617091
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef...	ORPHA:31150
Gaisböck Syndrome	Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration, Gout, Increased hemat...	ORPHA:90041
Fucosidosis	Hepatomegaly, Recurrent respiratory infections, Anhidrosis, Cardiomegaly, Splenomegaly, Vacuolate...	OMIM:230000
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Pancreatoblastoma, Pituitary corticotropic ...	ORPHA:99889
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Anal stenosis, Aga...	OMIM:250250
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Congenital Isolated Acth Deficiency	Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, ...	OMIM:274000
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Elevated gamma-glutamyltr...	OMIM:608885
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Lujo Hemorrhagic Fever	Respiratory distress, Elevated hepatic transaminase, Stiff neck, Maculopapular exanthema, Skin ra...	ORPHA:319213
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t...	OMIM:208540
Sweeney-Cox Syndrome	Asplenia, Bilateral cryptorchidism, Velopharyngeal insufficiency, Widow's peak, Low anterior hair...	OMIM:617746
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Chronic lymphocytic meningitis, Neutrophilia, Recurrent urinary tract infections, M...	ORPHA:99843
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidism, Spherocytosis, Azo...	ORPHA:251066
Chops Syndrome	Splenomegaly, Cryptorchidism, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomal...	OMIM:616368
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:614679
Alpha-Mannosidosis, Infantile Form	Osteopenia, Abnormal circulating enzyme concentration or activity, Pancytopenia, Joint laxity, Pn...	ORPHA:309282
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic...	OMIM:619991
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Tracheoesophageal fistula, Dy...	ORPHA:537
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Erythrokeratodermia Variabilis	Alopecia, Abnormal hair morphology, Weight loss, Abnormal testis morphology, Generalized hirsutism	ORPHA:317
Chronic Mucocutaneous Candidiasis	Recurrent respiratory infections, Skin rash, Cheilitis, Hepatitis, Cough	ORPHA:1334
Biotinidase Deficiency	Hepatomegaly, Apnea, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, T...	OMIM:253260
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Sialuria	Splenomegaly, Hepatomegaly, Hypoplastic nipples	OMIM:269921
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Refsum Disease	Splenomegaly, Respiratory insufficiency	ORPHA:773
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Conjunctivitis, C...	OMIM:263700
Hurler Syndrome	Hepatomegaly, Recurrent respiratory infections, Joint stiffness, Splenomegaly, Cranial hyperostos...	OMIM:607014
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi...	OMIM:616037
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Kagami-Ogata Syndrome	Hepatomegaly, Splenomegaly, Flexion contracture, Pulmonary hypoplasia, Pulmonary arterial hyperte...	OMIM:608149
Viss Syndrome	Contracture of the proximal interphalangeal joint of the 2nd toe, Chronic gastritis, Joint laxity...	OMIM:619472
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism...	OMIM:235255
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Cryptorchidism, Finger symphala...	ORPHA:221016
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Hyperechogenic pancreas, Pa...	OMIM:617052
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Zimmermann-Laband Syndrome	Splenomegaly, Hepatomegaly, Joint hypermobility	ORPHA:3473
Diastrophic Dysplasia	Recurrent respiratory infections, Increased bone mineral density, Camptodactyly of finger, Joint ...	ORPHA:628
Multiple Sulfatase Deficiency	Splenomegaly, Hepatomegaly, Joint stiffness	ORPHA:585
Christianson Syndrome	Cachexia, Gastroesophageal reflux, Inappropriate laughter, Dysphagia, Abnormal repetitive manneri...	ORPHA:85278
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Normochromic ...	ORPHA:247691
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Myocarditis, He...	ORPHA:728
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Cystic Fibrosis	Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu...	OMIM:219700
Addison Disease	Normocytic anemia, Hypoparathyroidism, Primary testicular failure, Salt craving, Sparse axillary ...	ORPHA:85138
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde...	ORPHA:556
Spondyloepimetaphyseal Dysplasia, Shohat Type	Splenomegaly, Hepatomegaly, Delayed epiphyseal ossification, Joint laxity	OMIM:602557
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia	OMIM:616604
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Pneumonia, Reduced leukocyte arylsulfatase B activity, Joint stiffness, Splenomegal...	OMIM:253200
Mucopolysaccharidosis Type 1	Recurrent respiratory infections, Sinusitis, Apnea, Abnormality of the tonsils, Joint stiffness, ...	ORPHA:579
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormally ossified vertebrae, Abnormality of the pancreas, Respiratory insufficien...	ORPHA:175
Lead Poisoning	Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn...	ORPHA:330015
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Apnea, Portal hypertension, Congenital hepatic fibro...	ORPHA:1454
Van Buchem Disease	Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ...	OMIM:239100
Hirschsprung Disease	Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy...	ORPHA:388
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Failure to thrive, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen...	ORPHA:2538
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615444
Camurati-Engelmann Disease	Hepatomegaly, Splenomegaly, Craniofacial osteosclerosis, Limitation of joint mobility, Leukopenia...	ORPHA:1328
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron...	OMIM:604571
Beta-Ketothiolase Deficiency	Hepatomegaly, Anorexia, Leukocytosis, Weight loss, Agitation, Oral aversion, Thrombocytosis	ORPHA:134
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici...	OMIM:614935
Glycogen Storage Disease Ii	Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Respiratory insufficiency due to mu...	OMIM:232300
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Malabs...	ORPHA:97282
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Igg4-Related Thyroid Disease	Retroperitoneal fibrosis, Sclerosing cholangitis, Pancreatic fibrosis, Increased circulating IgG4...	ORPHA:64744
Somatostatinoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, Elev...	ORPHA:97283
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Hennekam-Beemer Syndrome	Mastocytosis, Camptodactyly of finger, Pneumonia, Respiratory insufficiency	ORPHA:2135
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Cachexia, High, narrow palate, Cleft palate, Thin eyebro...	ORPHA:3242
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Acroosteolysis of distal phalanges (feet), Dysmenorrhea, Splenomegaly, Osteolytic d...	ORPHA:280365
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Congenital hypothyroidism, Delayed ossification of carpal bones, Neutropenia, Laryngo...	OMIM:271510
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure...	OMIM:276700
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, A...	ORPHA:2357
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas...	ORPHA:1655
Fanconi Anemia, Complementation Group R	Anal atresia, Bone marrow hypocellularity, Anemia, Radial dysplasia	OMIM:617244
Melorheostosis	Increased bone mineral density, Joint stiffness, Arthritis, Hyperostosis, Ectopic ossification in...	ORPHA:2485
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Plague	Respiratory distress, Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymph...	ORPHA:707
Chikungunya	Maculopapular exanthema, Skin rash, Epistaxis, Joint stiffness, Erythema nodosum, Cervical lympha...	ORPHA:324625
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Abnormality of neutrophils, Thrombocytopenia, Esophageal stricture, ...	ORPHA:36426
Digeorge Syndrome	Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t...	OMIM:188400
Peripartum Cardiomyopathy	Orthopnea, Autoimmunity, Crackles, Abnormality of thyroid physiology, Dyspnea, Asthma, Myocarditi...	ORPHA:563
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level	ORPHA:3409
Mucopolysaccharidosis Type 3	Hepatomegaly, Recurrent sinopulmonary infections, Craniofacial hyperostosis, Cardiomegaly, Adenoi...	ORPHA:581
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Glucagonoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, Elev...	ORPHA:97280
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
D-Bifunctional Protein Deficiency	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Fetal ascites, Splenomegaly, Primary adr...	OMIM:261515
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Recurrent bacterial skin infections, Abnormal circulating enzyme co...	ORPHA:95159
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Acute colitis...	ORPHA:544482
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Ulcerative colitis, Weight loss, Inflammation of the large intestine, Cro...	OMIM:266600
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Eosinophilia, Malabsorption, Weight loss, Gastroesophageal reflux, Dysphagia	ORPHA:183
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent infections, Sepsis, Anemia, Decreased circulating antibody level	ORPHA:79396
Grfoma	Anorexia, Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Int...	ORPHA:97261
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Ele...	OMIM:269700
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th...	ORPHA:454831
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Cardiofacioneurodevelopmental Syndrome	Asplenia, Cryptorchidism, Abdominal situs inversus, Cleft palate	OMIM:619123
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis,...	ORPHA:79277
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Autoimmune Hypoparathyroidism	Increased bone mineral density, Autoimmunity, Autoimmune hypoparathyroidism, Dyspnea, Autoimmune ...	ORPHA:36913
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p...	OMIM:600785
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:608779
Hurler Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormality of the tonsils, Camptodactyly of fing...	ORPHA:93473
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Giant Cell Arteritis	Alopecia, Anorexia, Mediastinal lymphadenopathy, Weight loss, Gastrointestinal infarctions, Gloss...	ORPHA:397
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Anorexia, Leukocytosis, Jaundice, Lipid accumulation in hepatoc...	ORPHA:20
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Joint stiffness, Splenomegaly, Recurrent upper respiratory tract infections, Flexio...	OMIM:253220
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Villous atrophy, Failure to thrive, Small for gestational age...	OMIM:557000
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Anorexia, Jaundice, Ovarian neoplasm, Weight loss, Pancreatitis, Anemia	ORPHA:370348
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Cranial hyperostosis	OMIM:612918
Acute Disseminated Encephalomyelitis	Viral hepatitis, Respiratory failure requiring assisted ventilation, Anti-myelin oligodendrocyte ...	ORPHA:83597
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Esophageal varix, Hepatosplenome...	ORPHA:2072
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n...	ORPHA:90062
Systemic Capillary Leak Syndrome	Leukocytosis, Pancreatitis, Weight loss	ORPHA:188
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Niemann-Pick Disease Type C	Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Low cholesterol esterification rate, Splenom...	ORPHA:646
Alexander Disease Type I	Failure to thrive, Cachexia, Dysphagia	ORPHA:363717
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Steatorrhea, Persi...	OMIM:260400
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Degcags Syndrome	Osteopenia, Hepatomegaly, Pancytopenia, Chronic lung disease, Pneumonia, Craniosynostosis, Congen...	OMIM:619488
Multiple Sulfatase Deficiency	Splenomegaly, Hepatomegaly	OMIM:272200
Gm1 Gangliosidosis Type 1	Decreased beta-galactosidase activity, Aspiration pneumonia, Hepatosplenomegaly	ORPHA:79255
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Tay-Sachs Disease	Abnormal circulating enzyme concentration or activity, Hepatosplenomegaly, Aspiration pneumonia, ...	ORPHA:845
Graves Disease, Susceptibility To, 1	Goiter, Hyperactivity, Polyphagia, Weight loss	OMIM:275000
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Moynahan Syndrome	Sparse hair, Alopecia, Cachexia	ORPHA:2574
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Malabsorption, ...	ORPHA:440437
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Intestinal malrotation, Polysplenia	OMIM:605376
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f...	OMIM:263200
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus, Exertional dy...	ORPHA:90036
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati...	ORPHA:70588
Mosaic Trisomy 9	Intestinal malrotation, Asplenia, Cryptorchidism, Cleft palate, High palate, Abnormal liver lobul...	ORPHA:99776
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Juvenile Huntington Disease	Hyperactivity, Weight loss	ORPHA:248111
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Dec...	OMIM:608594
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Multiple joint contractures, Chilblains, Autoimmunity, N...	ORPHA:51
Central Diabetes Insipidus	Polydipsia, Failure to thrive, Anorexia, Weight loss	ORPHA:178029
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myelofibrosis, Curly hair, Sparse scalp hair, Hyperactivity, Large for gestational age, Cryptorch...	OMIM:607721
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan...	ORPHA:144
Riboflavin Transporter Deficiency	Aggressive behavior, Cachexia, Dysphagia	ORPHA:97229
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Elevated hepatic transaminase, Increased circulating interleukin 6 concentr...	ORPHA:340
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Elevated circulating aspartate aminotransferase co...	OMIM:614866
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv...	OMIM:158310
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Recurrent respiratory infections, Hip contrac...	ORPHA:576
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia	ORPHA:52368
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Juvenile myelomonocytic leukemia, Splenomegaly, Cryptorchidism, Hepatosplenomegaly,...	OMIM:613563
Dermatitis Herpetiformis	Recurrent fractures, Autoimmunity, Eczema, Microcytic anemia	ORPHA:1656
Alström Syndrome	Respiratory distress, Decreased response to growth hormone stimulation test, Hypoplasia of the Le...	ORPHA:64
Encephalitis Lethargica	Increased circulating antibody level, Recurrent viral infections	ORPHA:83600
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Cachexia, High, narrow palate, Rectal prolapse, A...	ORPHA:79076
Rat-Bite Fever	Lymphadenitis, Weight loss, Anemia, Pancreatitis, Parotitis	ORPHA:31205
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c...	OMIM:277440
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c...	OMIM:264700
Isaacs Syndrome	Weight loss	ORPHA:84142
Feingold Syndrome 1	Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache...	OMIM:164280
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Hypopigmentation of hair, Anorexia, Malabsorption, Weight loss, Long...	ORPHA:79430
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Anemia, Weight loss	OMIM:256700
Senior-Boichis Syndrome	Portal hypertension, Aggressive behavior, Malformation of the hepatic ductal plate, Congenital he...	ORPHA:84081
Choreoacanthocytosis	Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Hea...	ORPHA:2388
Lymphatic Malformation 6	Splenomegaly, Hydrocele testis, Pleural effusion, Chylothorax, Intestinal lymphangiectasia, Ascit...	OMIM:616843
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Colitis, Steatorrhea, E...	ORPHA:309031
22Q11.2 Deletion Syndrome	Impaired T cell function, Abnormal lung lobation, Hypoplasia of the thymus, Chronic otitis media,...	ORPHA:567
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Weight loss	ORPHA:171876
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Spondyloepiphyseal Dysplasia Tarda	Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int...	ORPHA:93284
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Iron deficiency ane...	ORPHA:1667
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Decreased liver function, Hepa...	ORPHA:415
Huntington Disease-Like 2	Weight loss	OMIM:606438
Pseudohypoparathyroidism Type 1A	Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm...	ORPHA:79443
Congenital Analbuminemia	Recurrent lower respiratory tract infections, Increased circulating antibody level	ORPHA:86816
Malignant Peritoneal Mesothelioma	Peritonitis, Ileus, Weight loss	ORPHA:168811
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Elevated circulating alkaline phos...	OMIM:600081
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Cap Polyposis	Hematochezia, Atrophic gastritis, Colorectal polyposis, Weight loss	ORPHA:160148
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Limb joint contrac...	ORPHA:404454
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Asthma, Chronic noninfectious lymphadenopathy	ORPHA:100079
Werner Syndrome	Increased bone mineral density, Joint stiffness, Pulmonary artery stenosis, Osteoporosis, Decreas...	ORPHA:902
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Cachexia, A...	ORPHA:647
Axial Osteomalacia	Increased bone mineral density, Polycystic liver disease, Osteomalacia	OMIM:109130
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c...	OMIM:241530
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Wide anterior fontanel, Increased bone mineral density, Delayed patellar ossification, Abnormal b...	ORPHA:163649
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Splenomegaly, Hypohidrosis, Hypogonadism, Arthrogryposis multiplex congenita	ORPHA:163746
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced tarsal ossification, Advanced ossification of carpal bones, ...	OMIM:215045
Hereditary Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:30925
African Trypanosomiasis	Hepatomegaly, Pericarditis, Abnormality of the menstrual cycle, Keratitis, Splenomegaly, Jaundice...	ORPHA:3385
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Jaundice, Osteoporosis, Hepatitis, Cholestasis, Rickets, Osteolysis, Jo...	ORPHA:198
Lethal Recessive Chondrodysplasia	Respiratory distress, Generalized osteosclerosis	ORPHA:1423
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia, High palate, Intestinal malrotation	OMIM:619657
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Splenomegaly, Recurrent lower respiratory tract infections	OMIM:617913
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Elevated alkaline phosphatas...	ORPHA:289176
Mcdonough Syndrome	Cryptorchidism, Synophrys, Cachexia	ORPHA:2471
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost...	ORPHA:95430
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Vertebral fusion, Camptodactyly of finger, Supernumerary nipple, Splenomegaly, Cryp...	ORPHA:373
Tetrasomy 12P	Cachexia, Abnormal soft palate morphology, Sparse eyebrow, Sparse hair, Anal atresia	ORPHA:884
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Increased bone mineral density, Thickened cortex of long bones, Anemia	OMIM:127000
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Apnea, Episodic tachypnea, Aspiration pneu...	ORPHA:79264
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Neonatal respiratory distress, Skin rash, Autoimmunity, Abnormalit...	ORPHA:69665
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Abnormal hair morphology, Reduced bone mineral density, Premature graying of hair, Weig...	ORPHA:1979
Ppoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Hepatomegaly, Elev...	ORPHA:97278
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Hypocalcemic Vitamin D-Dependent Rickets	Elevated alkaline phosphatase of bone origin, Osteomalacia, Delayed epiphyseal ossification, Rick...	ORPHA:289157
Granulomatosis With Polyangiitis	Recurrent respiratory infections, Pericarditis, Sinusitis, Recurrent intrapulmonary hemorrhage, E...	ORPHA:900
Wolfram Syndrome	Gastrointestinal hemorrhage, Malabsorption, Abnormal mesentery morphology, Gastric ulcer, Polydip...	ORPHA:3463
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Reduced bone...	ORPHA:652
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Arteriosclerosis, Severe Juvenile	Gastric ulcer, Anemia	OMIM:208060
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Sporadic Infantile Bilateral Striatal Necrosis	Titubation, Abnormal posturing, Dysphagia	ORPHA:225147
Cystinosis, Nephropathic	Hepatomegaly, Hypopigmentation of hair, Failure to thrive in infancy, Oral-pharyngeal dysphagia, ...	OMIM:219800
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Weight loss	OMIM:191390
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Failure to thrive in infancy, Cachexia	OMIM:616801
Pseudohypoparathyroidism Type 1B	Increased bone mineral density, Decreased response to growth hormone stimulation test, Dyspnea, A...	ORPHA:94089
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Joint laxity, Cholangitis, Craniosynostosis, Splenom...	OMIM:613610
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, Aplasia/Hypoplasia of the uvul...	ORPHA:84
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Anorexia, Weight loss, Gastroesophageal reflux	ORPHA:732
Joubert Syndrome 21	Apnea, Dyspnea, Splenomegaly, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis	OMIM:615636
Cirrhosis, Familial	Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Cirrhosis, Pulmonary ar...	OMIM:215600
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Dysphagia, Failure to thrive, Anemia	OMIM:616457
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Protein-losing enteropathy, Weight loss	ORPHA:103910
Tropical Endomyocardial Fibrosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Orthopnea, Eosinophilia, Cardiom...	ORPHA:75565
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Alopecia, Anorexia, Malabsorption, Furrowed tongue, Weight loss, Fai...	ORPHA:37
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Dysphagia	OMIM:128100
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Increased circulating IgE level	OMIM:615508
Pseudoaminopterin Syndrome	Sparse scalp hair, Highly arched eyebrow, Sagittal craniosynostosis, Asplenia, Cryptorchidism, Fr...	ORPHA:221120
Flynn-Aird Syndrome	Alopecia, Bone cyst, Cachexia	ORPHA:2047
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Asplenia, Posteriorly placed anus, Biliary atresia, Abdominal situs inversus, Polys...	OMIM:306955
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Testicular teratoma, Weight loss	ORPHA:764
Acute Adrenal Insufficiency	Normocytic anemia, Salt craving, Anorexia, Sparse axillary hair, Weight loss, Failure to thrive	ORPHA:95409
Pseudohypoparathyroidism Type 1C	Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm...	ORPHA:79444
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ...	ORPHA:913
Attrv30M Amyloidosis	Weight loss	ORPHA:85447
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Elevated hepatic transa...	ORPHA:26793
Sponastrime Dysplasia	Joint laxity, Delayed epiphyseal ossification, Recurrent pneumonia, Generalized joint laxity, Lim...	ORPHA:93357
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett...	ORPHA:90291
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Pulmona...	ORPHA:94093
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Weight loss, Abnormal esophagus morpho...	ORPHA:1018
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Periapical tooth abscess	ORPHA:3352
Timothy Syndrome	Pulmonary arterial hypertension, Pneumonia, Bronchitis	OMIM:601005
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intestinal perforati...	OMIM:603041
Mucopolysaccharidosis Type 2	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Upper...	ORPHA:580
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Elevated alkaline phosphatase of bone origin, Scleros...	ORPHA:85188
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Autoimmunity, Abnormality of complement system, Unicameral bone...	ORPHA:79086
Distal Deletion 19P	Decreased circulating antibody level	ORPHA:96129
Hypophosphatemic Rickets, X-Linked Recessive	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Osteop...	ORPHA:143
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Scleromyxedema	Paraproteinemia	ORPHA:167635
Isolated Succinate-Coq Reductase Deficiency	Weight loss	ORPHA:3208
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Peritonitis, Weight loss...	ORPHA:679
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Splenopancreatic fusion, Sclerosis of skull base, Hypoplastic ni...	OMIM:269150
Congenital Multicore Myopathy With External Ophthalmoplegia	Joint laxity, Recurrent respiratory infections, Pneumonia, Cryptorchidism, Flexion contracture, A...	ORPHA:98905
Mucopolysaccharidosis Type 2, Severe Form	Abnormal circulating enzyme concentration or activity, Camptodactyly of finger, Splenomegaly, Rec...	ORPHA:217085
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Restrictive ventilatory defect, Pneumonia	OMIM:253700
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Recurrent infections	OMIM:601675
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary lymphangiectasia, Tracheoesophage...	OMIM:265380
Aspartylglucosaminuria	Hepatomegaly, Recurrent respiratory infections, Macroorchidism, Joint stiffness, Splenomegaly, Ar...	ORPHA:93
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal circulating enzyme concentration or activity, Camptodactyly of finger, Splenomegaly, Rec...	ORPHA:217093
Oromandibular Dystonia	Weight loss, Bruxism, Dysphagia	ORPHA:93958
Wild Type Attr Amyloidosis	Hepatomegaly, Gastrointestinal dysmotility, Weight loss	ORPHA:330001
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia	ORPHA:1438
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Renal tubular epithelial necrosis, Increased circulating IgG level, Normochrom...	ORPHA:91500
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Weight loss	ORPHA:767
Diarrhea 10, Protein-Losing Enteropathy Type	Recurrent upper respiratory tract infections, Decreased circulating antibody level	OMIM:618183
Meckel Syndrome, Type 1	Accessory spleen, Intestinal malrotation, Malformation of the hepatic ductal plate, Asplenia, Spl...	OMIM:249000
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, Cryptorchidism...	ORPHA:564
X-Linked Creatine Transporter Deficiency	Hyperactivity, Aganglionic megacolon, Cachexia, Ileus, Self-mutilation	ORPHA:52503
Neuropathy, Congenital Hypomyelinating, 3	Gastroesophageal reflux, Cachexia, High palate, Narrow palate	OMIM:618186
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Stiff neck, Pneumonia, Respiratory tract infection, Pustule, Granuloma, Infectious enc...	ORPHA:68
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Neoplasm of the liver, Hypophosphatemic rickets, Weight loss	ORPHA:2126
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hyperostosis, Hepatic hemangioma, Abnormal bone ossi...	ORPHA:73230
Williams Syndrome	Colonic diverticula, Osteopenia, Increased bone mineral density, Failure to thrive in infancy, Pe...	ORPHA:904
Cornelia De Lange Syndrome 1	Pneumonia, Cryptorchidism, Elbow flexion contracture, Hypoplastic nipples, Otitis media, Duplicat...	OMIM:122470
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased activity of NADPH oxidase, Pancreatitis, Aspiration pneumonia	ORPHA:431361
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Tetraamelia Syndrome 1	Asplenia, Anal atresia, Adrenal gland agenesis, Cleft palate	OMIM:273395
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hepatic steatosis, Cachexia	ORPHA:42
Roifman-Chitayat Syndrome	Arthritis, Pneumonia	OMIM:613328
Multiple Endocrine Neoplasia Type 2	Joint laxity, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hyperparathyroidism, ...	ORPHA:653
Dent Disease 1	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Metachromatic Leukodystrophy	Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobi...	ORPHA:512
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Carpal osteolysis, Metacarpal osteolysis, Osteolysis, Cachexia	ORPHA:2774
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Osteosarcoma	Osteolysis, Weight loss	ORPHA:668
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Cachexia, Abnormal hair pattern, Aggressive behavior, Synophrys, Obesity, High pal...	ORPHA:85293
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, Sparse or absent eyelashes, Sparse hai...	ORPHA:217346
Hereditary Bullous Dystrophy, Macular Type	Pneumonia	ORPHA:1867
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Self-injurious behavior, Cachexia	ORPHA:371364
Schwartz-Jampel Syndrome	Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Apnea, Shoulder f...	ORPHA:800
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea...	ORPHA:1782
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Anorexia, Hydrocele testis, Weight loss	ORPHA:49041
Chronic Graft Versus Host Disease	Pancytopenia, Alopecia, Anorexia, Esophageal stricture, Xerostomia, Weight loss, Abnormal esophag...	ORPHA:99921
Non-Functioning Paraganglioma	Weight loss	ORPHA:94080
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Osteoporosis, ...	ORPHA:79404
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis, Elevate...	OMIM:239000
Juvenile Amyotrophic Lateral Sclerosis	Head titubation, Cachexia, Dysphagia	ORPHA:300605
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Granulomatosis With Polyangiitis	Granulomatosis, Weight loss	OMIM:608710
8P23.1 Microdeletion Syndrome	Cryptorchidism, Obesity, Weight loss, High palate, Attention deficit hyperactivity disorder	ORPHA:251071
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Perry Syndrome	Weight loss	ORPHA:178509
Fatal Familial Insomnia	Weight loss, Dysphagia	OMIM:600072
Perry Syndrome	Inappropriate behavior, Disinhibition, Weight loss	OMIM:168605
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Premature ovarian insufficiency, Limitati...	ORPHA:79474
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Weight loss	OMIM:188580
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla...	ORPHA:95455
Heterotaxy, Visceral, 5, Autosomal	Intestinal malrotation, Asplenia, Abdominal situs inversus, Abdominal situs ambiguus, Duodenal at...	OMIM:270100
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ...	ORPHA:97286
Infantile Neuroaxonal Dystrophy	Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Aspiration...	ORPHA:35069
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Weight loss	OMIM:613239
Focal Myositis	Weight loss	ORPHA:48918
Cysticercosis	Increased circulating antibody level, Infectious encephalitis	ORPHA:1560
Glossopharyngeal Neuralgia	Odynophagia, Weight loss, Oral-pharyngeal dysphagia	ORPHA:221098
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Hypothyroidism, Abnormal pancreas morph...	ORPHA:116
Rett Syndrome	Stereotypical hand wringing, Gastroesophageal reflux, Cachexia, Bruxism	OMIM:312750
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Generalized hirsutism, Cachexia	ORPHA:1933
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Osteomyelitis, Antiphospholipid antibody positivity, Autoimmunity, Pulmon...	ORPHA:70591
Yao Syndrome	Xerostomia, Weight loss	OMIM:617321
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Trichinellosis	Increased circulating IgE level, Meningitis	ORPHA:863
Sanjad-Sakati Syndrome	Hypoparathyroidism, Recurrent respiratory infections, Patchy osteosclerosis, Cryptorchidism, Cong...	ORPHA:2323
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Gastroesophageal reflux, Decreas...	ORPHA:813
Dysostosis, Stanescu Type	Massively thickened long bone cortices, Increased bone mineral density	ORPHA:1798
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Small for gestational age, Weight loss, Agitation, Thyroid hyperplasia, Goiter	ORPHA:424
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Vertebral hy...	ORPHA:89936
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Cryptorchidism, Congenital hypoparathyroidism, Decreased response to growth hormone stimulation t...	OMIM:241410
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aganglionic megacolon, Asplenia, Pyloric stenosis, Cleft hard palate, Cryptorchidism, Bruxism, Cl...	ORPHA:261537
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Pneumonia, Cryptorchidism, Flexion contracture, Hypoplasia of t...	OMIM:264090
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Short Syndrome	Sparse hair, Alopecia, Weight loss	ORPHA:3163
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Geleophysic Dysplasia 3	Hepatomegaly, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Respiratory fai...	OMIM:617809
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Splenomegaly, Hepatomegaly, Respiratory distress	OMIM:617088
Familial Glucocorticoid Deficiency	Anorexia, Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Leydig cell neoplasia, Fail...	ORPHA:361
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Anterior pituitary hypoplasia, Hepatic fibrosis, Elevated gamma-glutamyltransferase l...	OMIM:619534
Raine Syndrome	Increased bone mineral density, Elevated circulating alkaline phosphatase concentration, Subperio...	OMIM:259775
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc...	OMIM:224300
Mowat-Wilson Syndrome	Aganglionic megacolon, Asplenia, Pyloric stenosis, Gastrointestinal dysmotility, Cleft hard palat...	ORPHA:2152
Dermatomyositis	Gastrointestinal stroma tumor, Abnormal eosinophil morphology, Weight loss, Abnormal hair quantity	ORPHA:221
Hereditary Sensory And Autonomic Neuropathy Type 4	Anhidrosis, Fasciitis, Osteomyelitis, Abscess, Hyperhidrosis, Painless fractures due to injury, A...	ORPHA:642
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Hypoventilation, Joint laxity, Apnea, Breathing dysregulation, Cryptorchidism, Abnorm...	ORPHA:438213
Hereditary Late-Onset Parkinson Disease	Weight loss, Agitation, Impulsivity, Dysphagia	ORPHA:411602
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Pulmonary hypoplasia,...	ORPHA:90652
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaundice, Macroorchidism	ORPHA:90790
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Aspiration pneumonia	OMIM:619167
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss, Intestinal pseudo-obstruction, Dysphagia	OMIM:607459
Adrenocortical Carcinoma	Adrenocorticotropic hormone deficiency, Weight loss, Increased body weight, Hypertrichosis	ORPHA:1501
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Bullous Pemphigoid	Weight loss	ORPHA:703
Familial Gestational Hyperthyroidism	Hyperactivity, Weight loss, Agitation, Thyroid hyperplasia, Goiter	ORPHA:99819
Dent Disease	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	ORPHA:1652
Infantile Krabbe Disease	Failure to thrive, Gastroesophageal reflux, Cachexia	ORPHA:206436
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aganglionic megacolon, Highly arched eyebrow, Asplenia, Pyloric stenosis, Cleft hard palate, Cryp...	ORPHA:261552
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Duodenal ulcer, Steatorrhea, Malabsorption	ORPHA:3217
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Alopecia, Weight loss, Dysphagia	ORPHA:93672
Paget Disease Of Bone 3	Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,...	OMIM:167250
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Johanson-Blizzard Syndrome	Joint laxity, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal...	OMIM:243800
Liposarcoma	Weight loss	ORPHA:69078
Proteus Syndrome	Thymus hyperplasia, Cachexia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged...	ORPHA:744
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss	ORPHA:276621
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia	ORPHA:702
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Enlarged pituitary gland, Osteopenia, Elevated circulating growth hormone...	ORPHA:91347
Marshall-Smith Syndrome	Decreased hip abduction, Apnea, Large sternal ossification centers, Craniosynostosis, Recurrent f...	OMIM:602535
Cockayne Syndrome	Hepatomegaly, Dry hair, Cachexia, Splenomegaly, Cryptorchidism, Fine hair, Gastroesophageal reflux	ORPHA:191
Acquired Central Diabetes Insipidus	Polydipsia, Weight loss	ORPHA:95626
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Cachexia, Abnormal large intestine morphology, Narrow palate, Hamartomatous...	ORPHA:109
Progeria-Short Stature-Pigmented Nevi Syndrome	T lymphocytopenia, Microcytic anemia	ORPHA:2959
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of tumor necrosis factor secretion	ORPHA:85436
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Gastric hypertrophy, Foot acroosteolysis, Periosteal t...	OMIM:161700
Trisomy 18	Cachexia, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Anal atresia	ORPHA:3380
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Rheumatoid Arthritis	Weight loss	OMIM:180300
Gerstmann-Straussler Disease	Aggressive behavior, Weight loss	OMIM:137440
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P...	ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ...	ORPHA:99103
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Sagittal craniosynostosis, Congenital hypothyroidism, ...	ORPHA:79500
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight loss	ORPHA:29072
Pmm2-Cdg	Respiratory distress, Osteopenia, Pericarditis, Elevated hepatic transaminase, Hypogonadotropic h...	ORPHA:79318
Desmosterolosis	Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita, To...	OMIM:602398
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Sagittal craniosynostosis, Hyperextensible hand joi...	ORPHA:500150
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints, Pulmonary hypoplasia	ORPHA:50945
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Increased bone mineral density, Increased su...	OMIM:119600
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Combined Oxidative Phosphorylation Deficiency 25	Aspiration pneumonia	OMIM:616430
Kabuki Syndrome 1	Hemolytic anemia, Autoimmune thrombocytopenia, Cryptorchidism, Congenital hypothyroidism, Recurre...	OMIM:147920
Adult-Onset Autosomal Dominant Leukodystrophy	Anhidrosis, Flexion contracture, Impotence, Decreased sweating due to autonomic dysfunction, Erec...	ORPHA:99027
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Cholera	Tachypnea, Aspiration pneumonia, Hyperventilation	ORPHA:173
Unilateral Polymicrogyria	Pseudobulbar paralysis, Abnormal posturing	ORPHA:268943
Coffin-Siris Syndrome 1	Sparse scalp hair, Dry hair, Duodenal ulcer, Intestinal malrotation, Aggressive behavior, Cryptor...	OMIM:135900
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Failure to thrive, Reduced pancreatic beta cells, Weight loss	ORPHA:99885
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Oculopharyngodistal Myopathy 1	Weight loss, High palate, Dysphagia	OMIM:164310
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Failure to thrive, High palate, Dysphagia	ORPHA:2020
Coffin-Siris Syndrome	Joint laxity, Cryptorchidism, Recurrent upper respiratory tract infections, Aspiration pneumonia,...	ORPHA:1465
Reactive Arthritis	Inflammation of the large intestine, Dystrophic fingernails, Weight loss	ORPHA:29207
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Alopecia totalis, Loss of eyelashes, Weight loss, Reduced bone mineral density, D...	ORPHA:740
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Stippled calcification in carpal bones, Testicular microlithiasis, Weight loss	ORPHA:60025
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short hard palate, Cachexia, Anorexia	ORPHA:1969
Xfe Progeroid Syndrome	Failure to thrive, Cachexia	OMIM:610965
Seckel Syndrome	Sparse scalp hair, Craniosynostosis, Cachexia	ORPHA:808
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia	OMIM:619482
Marfan Syndrome	Osteopenia, Cachexia, High, narrow palate, Osteoporosis, Cleft palate, Attention deficit hyperact...	ORPHA:558
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Goodpasture Syndrome	Anemia, Weight loss	OMIM:233450
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Cervical C2/C3 vertebral fusion, Asthma, A...	ORPHA:444077
Primary Hyperoxaluria	Elevated hepatic transaminase, Generalized osteosclerosis, Recurrent fractures	ORPHA:416
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Otitis media	ORPHA:353281
Stickler Syndrome	Slender build, Cachexia, Cleft palate, Reduced bone mineral density, Macroglossia, Glossoptosis, ...	ORPHA:828
Semilobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Centra...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Centra...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Centra...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Flexion contracture, Centra...	ORPHA:93924
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Joint laxity, Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Hydrocele test...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Joint laxity, Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Hydrocele test...	ORPHA:353277
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia	ORPHA:220295
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Frontal balding, Testicular adrenal rest tumor, Weight loss, Failure to thrive, Decreased testicu...	ORPHA:90794
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Osteomalacia, Weight loss	ORPHA:3337
Norrie Disease	Cachexia, Cryptorchidism, Self-injurious behavior, Attention deficit hyperactivity disorder, Fail...	ORPHA:649
Yunis-Varon Syndrome	Absent nipple, Absent sternal ossification, Cryptorchidism, Decreased calvarial ossification, Hyp...	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.

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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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