Gene: Il5 MGI:96557

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

interleukin 5

Synonyms:

Il-5

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 Il5 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 Il5 (0 diseases)
Human diseases predicted to be associated with Il5 (640 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Il5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 88	Eosinophilia	OMIM:619630
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Protein-losing enteropathy, Recurrent otiti...	OMIM:613502
Immunodeficiency 24	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Recurrent viral ...	OMIM:615897
Immunodeficiency 50	Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re...	OMIM:300988
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Immunodeficiency 8 With Lymphoproliferation	Recurrent upper respiratory tract infections, Post-vaccination varicella zoster virus infection, ...	OMIM:615401
Immunodeficiency 18	Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent sinusitis,...	OMIM:613494
Immunodeficiency 103, Susceptibility To Fungal Infections	Chronic tinea infection, Abnormal natural killer cell count, Increased circulating IgE level, Hyp...	OMIM:212050
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level	OMIM:619549
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:611521
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,...	OMIM:613500
Asherman Syndrome	Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O...	ORPHA:137686
Histiocytosis, Familial Lipochrome	Recurrent infections, Histiocytosis, Increased circulating antibody level	OMIM:235900
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent...	OMIM:245480
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Zygotic cleavage failure, Female infertility, Oocyte arrest a...	OMIM:619011
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Recurrent respiratory infections, Panhypogammaglobulinemia, Ag...	OMIM:615214
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Immunodeficiency 62	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased proporti...	OMIM:618459
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Atopic dermatitis,...	OMIM:618944
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Recurrent sino...	OMIM:609529
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu...	OMIM:617638
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgG level, Recurrent otitis media, Molluscum c...	OMIM:618982
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent viral infections, Gastroesophageal reflux, Increased circulating IgE...	OMIM:620532
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast...	OMIM:605258
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Recurrent infections, Decreased circulating antib...	OMIM:616911
Myelolymphatic Insufficiency	Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr...	OMIM:310350
Immunodeficiency 25	Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n...	OMIM:610163
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Recurrent viral infections, Chronic otitis media, Recurrent candida...	ORPHA:217390
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia, Post-vaccination polio, Recurrent ...	OMIM:616941
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Immunodeficiency 53	Recurrent pneumonia, Recurrent otitis media, Skin rash, Impaired lymphocyte transformation with p...	OMIM:617585
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Maculopapular ex...	ORPHA:98848
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu...	OMIM:613501
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Recurrent infections, Neutropenia	OMIM:617014
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre...	OMIM:300400
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Incr...	OMIM:615767
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Neutropenia, Recurrent bacterial infect...	OMIM:616022
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Inflammation of the large intestine, Decrea...	OMIM:619281
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir...	OMIM:614699
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Umbilical hernia, Large for gestational age, Large placenta, Overgrowth, Polyhydramnios, Small fo...	ORPHA:254534
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat...	OMIM:300310
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Recurrent bronchopulmonary infections, Decreased circulating total IgM, Neutropenia	OMIM:610798
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly	OMIM:606445
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec...	ORPHA:169154
Immunodeficiency 67	Recurrent staphylococcal infections, Abnormal T cell count, Abnormal natural killer cell count, I...	OMIM:607676
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Bronchiectasis, Increased proportion of gamma-delta ...	OMIM:617514
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve...	OMIM:607271
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Immunoglobulin A Deficiency 1	Recurrent infections, Recurrent respiratory infections, Recurrent infection of the gastrointestin...	OMIM:137100
Whim Syndrome 2	Severe infection, Recurrent gingivitis, Chronic neutropenia	OMIM:619407
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent upper respiratory tract infections, Recurrent pneumonia, Inflammatory abnormality of th...	ORPHA:277
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections...	OMIM:301082
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Increased circulating interl...	OMIM:613759
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ...	OMIM:613495
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Pneumocystis jirovecii pneumonia, Agammaglo...	OMIM:615206
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ...	OMIM:607594
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Prader-Willi syndrome (Type 1)	Hypogonadism, Truncal obesity	DECIPHER:14
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Prader-Willi Syndrome (Type 2)	Hypogonadism, Truncal obesity	DECIPHER:53
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level	OMIM:146830
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent mycobacterial infections, Decreased circulating IgG level, Inflammation of the large in...	ORPHA:98813
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati...	ORPHA:169160
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Inc...	OMIM:243700
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Methicillin-resistant ...	OMIM:618282
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Kimura Disease	Eosinophilia	ORPHA:482
Immunodeficiency 46	Sepsis, Conjunctivitis, Intermittent thrombocytopenia, Recurrent sinopulmonary infections, Neutro...	OMIM:616740
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Immunodeficiency 70	Decreased circulating total IgG, Celiac disease, Decreased proportion of CD4-positive helper T ce...	OMIM:618969
Immunodeficiency 32B	Recurrent infections, Pneumonia, BCGitis, Impaired oxidative burst, Abnormal circulating IgG leve...	OMIM:226990
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Zygotic cleavage failure, Female infertility	OMIM:619009
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:619752
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, R...	OMIM:615513
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,...	OMIM:616098
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan...	OMIM:619858
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Conjunctivitis, Impa...	OMIM:240500
Immunodeficiency 44	Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A...	OMIM:616636
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Eczematoid dermatitis, Increased circulating IgE level, Celiac disease, Recurrent infections, Thy...	OMIM:618985
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Eosino...	OMIM:618523
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Pneumocystis carinii pneumonia, Abnormal T cell count...	OMIM:312863
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Persistent CMV viremia, Fluctuating splenomegaly, Increased circulating IgG level, Recurrent otit...	OMIM:619220
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, B lymphocy...	OMIM:618987
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczematoid dermatitis	OMIM:176090
Bardet-Biedl Syndrome 11	Hypogonadism, Obesity	OMIM:615988
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo...	OMIM:300853
Reticular Dysgenesis	Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital ag...	OMIM:267500
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Pancytop...	OMIM:618394
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ...	ORPHA:275
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon...	OMIM:619824
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Incre...	ORPHA:98850
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Recurrent lower respiratory tract i...	ORPHA:436159
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur...	OMIM:193670
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide...	ORPHA:70593
Neutropenia, Chronic Familial	Periodontitis, Neutropenia, Increased circulating antibody level	OMIM:162700
Splenoportal Vascular Anomalies	Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly	OMIM:271500
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega...	OMIM:619924
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Anemia, ...	OMIM:613313
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Sepsis, Eczematoid dermatitis, Increased circ...	OMIM:256500
Gamma-A-Globulin, Defect In Assembly Of	Recurrent respiratory infections, Decreased circulating IgA level	OMIM:137050
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infec...	ORPHA:2688
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Neut...	ORPHA:859
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Recurrent r...	OMIM:300635
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ...	ORPHA:276
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia...	ORPHA:572
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Immunodeficiency 48	Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Recur...	OMIM:269840
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Lymphopenia, Hepatos...	ORPHA:331206
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Focal Facial Dermal Dysplasia Type Iv	Cleft palate, Abnormal mast cell morphology	ORPHA:398189
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Increased...	OMIM:606367
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt...	OMIM:233650
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, S...	ORPHA:397596
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Wells Syndrome	Eosinophilia	ORPHA:901
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper res...	OMIM:614069
Pgm3-Cdg	Allergic rhinitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Increased circulating IgE ...	ORPHA:443811
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Abscess, Autoimmune hemolytic anemia, Decre...	OMIM:619374
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ...	OMIM:616576
Immunodeficiency, Common Variable, 13	Recurrent viral infections, Pancytopenia, Decreased circulating antibody level, Recurrent fungal ...	OMIM:616873
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low...	OMIM:308230
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Splenomegaly, Increased circulating antibody leve...	OMIM:614470
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c...	OMIM:304790
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	OMIM:619802
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Polycystic Ovary Syndrome 1	Amenorrhea, Obesity, Oligomenorrhea	OMIM:184700
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Otitis ...	OMIM:601457
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent viral infections, Lymphopenia, Hepatosplenomegaly, Acute otitis media, Pustule, Rectova...	ORPHA:35078
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Wiskott-Aldrich Syndrome 2	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati...	OMIM:614493
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Neutropenia, Severe Congenital, X-Linked	Eczematoid dermatitis, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia, Recurrent bacterial i...	OMIM:300299
Immunodeficiency 23	Allergic rhinitis, Molluscum contagiosum, Increased circulating IgE level, Lymphopenia, Abscess, ...	OMIM:615816
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Bronchiectasis, ...	OMIM:620282
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233710
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo...	OMIM:231100
Retinitis Pigmentosa 89	Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis	OMIM:618955
Immunodeficiency 92	Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res...	OMIM:619652
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Recurrent viral infections, Eczematoid dermatiti...	OMIM:620565
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ...	OMIM:601495
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ...	OMIM:300636
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Recurrent...	OMIM:300755
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Decreased proportion of CD8-positive T ce...	OMIM:617241
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint...	OMIM:608184
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat...	OMIM:618935
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233690
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Peptic ulcer, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chr...	ORPHA:98849
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Anemia, Thrombocyt...	ORPHA:169079
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent viral infections, Inflammatory abnormality of the skin, Increased circulating IgE level...	OMIM:102700
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decrease...	OMIM:614878
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Incre...	ORPHA:369
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis, High palate	OMIM:248910
Reticular Dysgenesis	Sepsis, Abnormality of neutrophils, Leukopenia, Skin rash, Anemia, Recurrent respiratory infectio...	ORPHA:33355
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Fadd-Related Immunodeficiency	Hepatic fibrosis, Decreased liver function	ORPHA:306550
Immunodeficiency 21	Reduced natural killer cell count, Recurrent viral infections, Recurrent mycobacterium avium comp...	OMIM:614172
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur...	OMIM:615577
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m...	ORPHA:2585
Invasive Mole	Menometrorrhagia	ORPHA:99925
Immunodeficiency 108 With Autoinflammation	Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis, Hyposegmentation of neutrophil nuc...	OMIM:260570
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl...	OMIM:620210
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac...	OMIM:602450
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port...	OMIM:617394
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatitis, Intestinal ly...	OMIM:620632
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Trimethylaminuria	Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:601859
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Decreased lymphocyte proliferatio...	OMIM:615122
Immunoglobulin Kappa Light Chain Deficiency	Recurrent infections, Recurrent respiratory infections, Absent circulating immunoglobulin kappa c...	OMIM:614102
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com...	OMIM:301081
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating IgE level, Lymphopenia,...	OMIM:620603
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections, Monocytopenia, Neutropenia	ORPHA:86788
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom...	OMIM:619902
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Recurrent otitis media, Lymphopenia, Abnormal delayed hypers...	OMIM:301000
Cortisone Reductase Deficiency 1	Infertility, Obesity, Oligomenorrhea	OMIM:604931
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Recurrent strepto...	ORPHA:167
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Congenital hepatic fibrosis	ORPHA:446
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo...	OMIM:619846
Placental Insufficiency	Small placenta, Abnormal placenta morphology, Small for gestational age, Abnormal umbilical cord ...	ORPHA:439167
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity, Reduced social reciprocity	ORPHA:329249
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Hepatic fibrosis, Pancytopenia, Portal hype...	OMIM:617341
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ...	OMIM:617780
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ...	OMIM:600802
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Placental Site Trophoblastic Tumor	Amenorrhea, Metrorrhagia	ORPHA:99928
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Bardet-Biedl Syndrome 10	Hypogonadism, Obesity	OMIM:615987
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Coach Syndrome 2	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Congenital hepatic fib...	OMIM:619111
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Colon cancer, Pancytopenia, Hepatosplenomegaly, Hodgkin lymphoma, Acute myeloid...	ORPHA:158057
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology	ORPHA:3165
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Porta...	ORPHA:53035
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Polyhydramnios, Large for gestational age, Obesity, Truncal obesity	OMIM:240900
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Recurre...	OMIM:618116
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly	ORPHA:33402
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, Decreased circulating IgG level, H...	OMIM:301078
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Recurrent pneumonia, Pustule, Recurrent bronchiolitis	OMIM:616069
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Barth Syndrome	Abnormality of neutrophils, Abnormal mitochondrial morphology	ORPHA:111
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Pancoliti...	OMIM:618213
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Autosomal Agammaglobulinemia	Sepsis, Bronchiectasis, Hepatitis, Recurrent respiratory infections, Osteomyelitis, Skin rash, Hi...	ORPHA:33110
Glycogen Storage Disease Iii	Hepatomegaly, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration	OMIM:232400
Immunodeficiency 22	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat...	OMIM:615758
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Neutropenia, Autoimmune hemolytic anemia	OMIM:615387
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Isolated Agammaglobulinemia	Pneumonia, Sepsis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis media, Skin...	ORPHA:229717
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449400
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Aicardi-Goutieres Syndrome 6	Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,...	OMIM:615010
Immunodeficiency 12	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Esophagea...	OMIM:615468
Aspergillosis	Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Invasive...	ORPHA:1163
Familial Hyperprolactinemia	Female hypogonadism, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia	ORPHA:397685
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Truncal obesity	ORPHA:293964
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Granuloma, Lymphadeniti...	OMIM:306400
Kagami-Ogata Syndrome	Large for gestational age, Large placenta, Overgrowth, Polyhydramnios, Premature birth	ORPHA:254519
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Macrophage Activation Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:158061
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Cinca Syndrome	Anemia, Eosinophilia, Hepatosplenomegaly, Leukocytosis	OMIM:607115
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Agammaglobulinemia, Absent circulating B cells, Seborrheic dermatitis, Thr...	OMIM:619693
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Celiac disease, Hepatospleno...	OMIM:615952
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level, Villous atrophy, Duodenitis, Pustule, Erythroderma, Blepharitis	OMIM:614328
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Bardet-Biedl Syndrome 5	Hypogonadism, Obesity	OMIM:615983
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilic infiltration of the esophagus, High palate, Duodena...	OMIM:147060
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis	ORPHA:280356
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Immunodeficiency 9	Decreased circulating IgG level, BCGitis, Lymphopenia, Decreased circulating IgA level, Recurrent...	OMIM:612782
Immunodeficiency 17	Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Recurrent otitis media, D...	OMIM:615607
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Syndromic X-Linked Intellectual Disability 7	Hypogonadism, Obesity	ORPHA:85274
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec...	OMIM:243150
Immunodeficiency 56	Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Recurrent respiratory infections, Panhypog...	OMIM:615207
Premature Ovarian Failure 1	Irregular menstruation, Premature ovarian insufficiency	OMIM:311360
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Elevated circulating alanine ami...	OMIM:620376
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Polyhydramnios, Large placenta, Umbilical hernia	ORPHA:254528
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Premature Ovarian Failure 5	Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu...	OMIM:611548
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age	OMIM:256450
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Steatorrhea, Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Premature Ovarian Failure 15	Irregular menstruation, Oligomenorrhea, Secondary amenorrhea	OMIM:618096
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eczematoid dermatitis, Recurrent respiratory infections, Increased circulating IgE level, Osteomy...	ORPHA:2314
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Trichohepatoenteric Syndrome 1	Failure to thrive, Large placenta, Abnormalities of placenta or umbilical cord, Polyhydramnios, S...	OMIM:222470
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly	OMIM:607361
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly	OMIM:618999
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Splenomegaly, Hepatomegaly	OMIM:615630
Hereditary Folate Malabsorption	Cheilitis, Gastroesophageal reflux, Recurrent urinary tract infections, Pancytopenia, Glossitis, ...	ORPHA:90045
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	OMIM:615895
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Leptin Deficiency Or Dysfunction	Hypogonadism, Obesity, Primary amenorrhea	OMIM:614962
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat...	OMIM:617744
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Septic arthritis, Recurrent enteroviral infections, Conjunctivi...	OMIM:307200
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Acquired Partial Lipodystrophy	Lymphocytosis, Hepatic steatosis	ORPHA:79087
Eosinophilic Gastroenteritis	Anemia, Eosinophilia, Leukocytosis	ORPHA:2070
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Roifman Syndrome	Eosinophilia, Splenomegaly	OMIM:616651
Senior-Loken Syndrome 9	Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis	OMIM:616629
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Abnormality ...	ORPHA:2902
Necrobiosis Lipoidica	Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma	ORPHA:542592
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Failure to thrive, Small placenta, Hypogonadism, Truncal obesity, Small for gestational age	ORPHA:73272
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c...	OMIM:615486
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Second...	OMIM:617565
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Abnormality of endocrine pancreas physio...	ORPHA:79230
Mpi-Cdg	Hepatomegaly, Hepatic fibrosis, Portal hypertension, Decreased liver function	ORPHA:79319
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age	OMIM:601820
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Anemia	ORPHA:39041
Congenital Syphilis	Large placenta, Hydrops fetalis, Premature birth	ORPHA:499009
Bardet-Biedl Syndrome 22	Hypogonadism, Obesity, Large for gestational age	OMIM:617119
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Netherton Syndrome	Eczematoid dermatitis, Recurrent respiratory infections, Increased circulating IgE level, Skin ra...	ORPHA:634
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Elevated circulating aspartate aminotransferase concentration, Elevated circ...	OMIM:619481
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, Recur...	ORPHA:47612
Mosaic Trisomy 16	Small for gestational age, Large placenta, Single umbilical artery, Premature birth	ORPHA:1708
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Aplastic anemia, Pancytopenia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis, High palate	ORPHA:2135
Senior-Loken Syndrome	Congenital hepatic fibrosis	ORPHA:3156
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Chronic Granulomatous Disease	Pyloric stenosis, Sepsis, Abnormality of neutrophils, Eczematoid dermatitis, Splenomegaly, Otitis...	ORPHA:379
Greenberg Dysplasia	Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Polyhydramnios, Echogen...	OMIM:215140
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Decreased proportion of CD8-positive...	ORPHA:911
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Increased cir...	ORPHA:540
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Increased stool alpha1-antitrypsin concentration, Opportunistic ...	ORPHA:90362
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Joubert Syndrome 9	Hepatic fibrosis	OMIM:612285
Immunodeficiency 58	Allergic rhinitis, Molluscum contagiosum, Esophagitis, Dysphagia, Chronic otitis media, Recurrent...	OMIM:618131
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Intrahepatic bile duct...	OMIM:216360
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati...	OMIM:251880
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Silver-Russell Syndrome Due To A Point Mutation	Small placenta, Oligohydramnios, Small for gestational age, Dysmenorrhea	ORPHA:397590
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent s...	OMIM:214500
Premature Ovarian Failure 11	Oligomenorrhea, Secondary amenorrhea	OMIM:616946
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:264580
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Dpm1-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He...	ORPHA:79322
Nephronophthisis 16	Cholestasis, Periportal fibrosis	OMIM:615382
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Bloom Syndrome	Neoplasm of the colon, Stomach cancer, Severe toxoplasmosis, Abscess, Abnormal proportion of CD8-...	ORPHA:125
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity	OMIM:618406
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He...	OMIM:619487
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Obesity	ORPHA:141333
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Elevated ...	ORPHA:79124
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic fibrosis, Hepatic failure, Cirrhosis	OMIM:602579
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Portal hypertension, Splenomegal...	ORPHA:186
Morbid Obesity And Spermatogenic Failure	Infertility, Obesity, Azoospermia, Oligozoospermia	OMIM:615703
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Lymphadenit...	ORPHA:51636
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea...	OMIM:615190
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholecystitis, Splenomegaly, Nonspherocytic hemolytic anemia, Impai...	OMIM:613470
Good Syndrome	Recurrent urinary tract infections, Recurrent skin infections, Abnormal leukocyte morphology, Thr...	ORPHA:169105
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Laurence-Moon Syndrome	Congenital hepatic fibrosis	ORPHA:2377
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hepatome...	OMIM:263200
Perrault Syndrome 4	Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Premature ovarian insuffici...	OMIM:615300
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Beckwith-Wiedemann Syndrome	Subchorionic septal cyst, Umbilical hernia, Tall stature, Obesity, Large placenta, Large for gest...	ORPHA:116
Acute Generalized Exanthematous Pustulosis	Eosinophilia, Leukocytosis, Neutropenia, Neutrophilia	ORPHA:293173
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Decreased circulating total IgG, Decreased lymphocyte proliferation i...	ORPHA:221139
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Anem...	ORPHA:88
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Thrombocytopenia 1	Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased...	OMIM:313900
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Secondary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Volvulus, Decreased circul...	ORPHA:90363
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Anemia, Prolong...	OMIM:619377
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Anemia, ...	ORPHA:79240
Syndromic Diarrhea	Hepatic fibrosis, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liver, Splenomegaly, ...	ORPHA:84064
Obesity And Hypopigmentation	Overgrowth, Obesity	OMIM:620195
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Hypereosinophilia, Autoimmune hemolytic anemia	OMIM:617388
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Hepatocellular necrosis, Hepatic steatosis, Hepatomegaly, Necrotizing entero...	OMIM:201475
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Protruding tongue,...	OMIM:242860
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Spinal dysraphism, Large for gestational age, Large placenta, Overgrowth, Polyhydramnios, Prematu...	ORPHA:96334
Meckel Syndrome, Type 1	Occipital encephalocele, Oligohydramnios, Large placenta, Breech presentation, Single umbilical a...	OMIM:249000
Bardet-Biedl Syndrome 7	Hypogonadism, Obesity	OMIM:615984
Restrictive Dermopathy	Small placenta, Large placenta, Short umbilical cord, Decreased fetal movement, Premature deliver...	ORPHA:1662
Bardet-Biedl Syndrome 8	Hypogonadism, Obesity	OMIM:615985
Premature Ovarian Failure 13	Amenorrhea, Oligomenorrhea, Female infertility	OMIM:617442
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis	ORPHA:90368
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Anoperineal fistula, Recurrent otitis media, Recu...	OMIM:619381
Sweet Syndrome	Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa...	ORPHA:3243
Loeffler Endocarditis	Eosinophilia	ORPHA:75566
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Recurrent infections, Neutropenia	OMIM:620443
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Decreased circulating IgG level, Elevated circulating hepatic transaminase conc...	OMIM:212065
Icf Syndrome	Abnormality of neutrophils, Lymphopenia, Protruding tongue, Anemia, Macroglossia, Recurrent respi...	ORPHA:2268
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Obesity, Decreased fertility	ORPHA:2233
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl...	OMIM:300291
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil c...	ORPHA:3226
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Xq28 (MECP2) duplication	Recurrent respiratory infections, Gastroesophageal reflux, Dysphagia, Decreased circulating IgA l...	DECIPHER:45
Citrullinemia Type Ii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Pan...	ORPHA:247585
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Igg4-Related Submandibular Gland Disease	Xerostomia, Increased circulating IgE level, Increased circulating IgG4 level, Abnormality of the...	ORPHA:449432
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Gastroesophageal reflux, Oral leukoplakia, Decreased circulating...	OMIM:620040
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltration of the esopha...	OMIM:615508
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Elevated circulating aspart...	OMIM:617093
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepat...	ORPHA:333
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Decreased circulating IgG level, Elevated circulating hepatic...	OMIM:620005
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Psoriasis 14, Pustular	Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutrophilia, Cholangitis	OMIM:614204
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Obesity, Decreased fetal movement	ORPHA:177910
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia...	OMIM:275350
Meckel Syndrome, Type 6	Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease	OMIM:612284
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Recurrent pneumonia, Cholestasis, Hepatosplenomegaly, Hype...	ORPHA:731
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea	OMIM:610628
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, A...	OMIM:619644
Obesity Due To Melanocortin 4 Receptor Deficiency	Obesity, Childhood-onset truncal obesity	ORPHA:71529
Donohue Syndrome	Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia	OMIM:246200
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Polyhydramnios, Obesity	ORPHA:521390
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Skin rash, Increased circulating antibody level, Myositis, Sinusitis, ...	OMIM:617591
Common Variable Immunodeficiency	Pneumonia, Bronchiectasis, Lymphopenia, Decreased circulating antibody level, Recurrent bronchiti...	ORPHA:1572
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Erythroderma, Hepatomegaly, M...	ORPHA:79456
Hardikar Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:301068
Restrictive Dermopathy 1	Premature rupture of membranes, Spontaneous chorioamniotic separation, Hydropic placenta, Oligohy...	OMIM:275210
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase conce...	OMIM:607330
Bardet-Biedl Syndrome 2	Hypogonadism, Obesity	OMIM:615981
Nephronophthisis 11	Anemia, Hepatic fibrosis	OMIM:613550
Proprotein Convertase 1/3 Deficiency	Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea	OMIM:600955
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:275761
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia	OMIM:617425
Cystic Echinococcosis	Splenic cyst, Peritoneal abscess, Eosinophilia, Abscess	ORPHA:400
Joubert Syndrome With Hepatic Defect	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Conge...	ORPHA:1454
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ...	ORPHA:449395
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation	OMIM:610688
Adams-Oliver Syndrome	Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Thrombocytopenia	ORPHA:974
Cyclic Neutropenia	Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos...	ORPHA:2686
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac...	OMIM:300835
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis	OMIM:601539
Lead Poisoning	Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level...	ORPHA:330015
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity	ORPHA:88643
Abetalipoproteinemia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Acanthocytosis, Hepati...	ORPHA:14
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis	OMIM:263210
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia	ORPHA:183
Wolcott-Rallison Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Exocrine pancreat...	ORPHA:1667
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Panniculitis, Skin rash, Increased proportion of CD4-positive T cells, Increased ci...	OMIM:617099
Cortisone Reductase Deficiency 2	Obesity	OMIM:614662
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Eosinophilia, Macrocytic anemia	ORPHA:199299
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Hepatic fibrosis, Polysplenia, Pancreatic fibrosis	OMIM:200995
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Lymphocytosis, Neutropenia, Recurrent infections, Chronic neut...	OMIM:258360
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Nephritis, Bile duct proliferation, Pancreatic fibrosis, Jaundice, Pancreatic c...	OMIM:208500
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypogonadism, Decreased fertility, Obesity, Eunuchoid habitus	ORPHA:2234
Acute Panmyelosis With Myelofibrosis	Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis	ORPHA:86843
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo...	ORPHA:508533
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Neutrophilia, Anemia, Abn...	ORPHA:54251
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia	ORPHA:514
Mucoepithelial Dysplasia, Hereditary

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