Gene: Ash1l MGI:2183158

Gene Summary

Name:

ASH1 like histone lysine methyltransferase

Synonyms:

E430018P19Rik, chromatin remodeling factor, KMT2H, 8030453L17Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased basophil cell number	Ash1l^{tm2b(EUCOMM)Hmgu}	HET	Early adult	1.34×10^-20
increased eosinophil cell number	Ash1l^{tm2b(EUCOMM)Hmgu}	HET	Early adult	6.46×10^-18
increased heart weight	Ash1l^{tm2b(EUCOMM)Hmgu}	HET	Early adult	9.53×10^-10
increased grip strength	Ash1l^{tm2b(EUCOMM)Hmgu}	HET	Early adult	4.51×10^-05
increased fasting circulating glucose level	Ash1l^{tm2b(EUCOMM)Hmgu}	HET	Early adult	8.35×10^-05
impaired pupillary reflex	Ash1l^{tm2b(EUCOMM)Hmgu}	HET	Early adult	3.51×10^-11
preweaning lethality, complete penetrance	Ash1l^{tm2b(EUCOMM)Hmgu}	HOM	Early adult	0.00
abnormal coat appearance	Ash1l^{tm2b(EUCOMM)Hmgu}	HET	Early adult	1.69×10^-06

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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 Ash1l 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 Ash1l (2 diseases)
Human diseases predicted to be associated with Ash1l (1199 diseases)

The table below shows human diseases associated to Ash1l by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Mental Retardation, Autosomal Dominant 52		Cryptorchidism	OMIM:617796
Autosomal Dominant Non-Syndromic Intellectual Disability		Short stature	ORPHA:178469

The table below shows human diseases predicted to be associated to Ash1l by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in...	OMIM:613495
Agammaglobulinemia 2, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re...	OMIM:613500
Immunodeficiency 25	Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t...	OMIM:610163
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, Recurrent oral herpes, Recu...	OMIM:619220
Immunodeficiency, Common Variable, 6	Macroscopic hematuria, Recurrent bacterial infections, Hydronephrosis, Decreased specific pneumoc...	OMIM:613496
C1Q Deficiency	Autoimmunity, Systemic lupus erythematosus, Recurrent infections, Decreased serum complement fact...	OMIM:613652
Immunodeficiency 64	Anti-thyroid peroxidase antibody positivity, Defective T cell proliferation, Bronchiectasis, Incr...	OMIM:618534
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,...	OMIM:608106
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Nephrotic syndrome, Systemic lupus erythematosus, Decreased serum...	OMIM:613779
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level, Glomerulonephritis, Pneumonia, Autoimmune hemolytic anemia	OMIM:247800
Immunodeficiency 89 And Autoimmunity	Bronchiectasis, Increased circulating IgA level, Increased circulating IgG level, Rheumatoid fact...	OMIM:619632
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Autoimmunity, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, ...	OMIM:617006
C3 Glomerulopathy	Hypertension, Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Decreased serum c...	ORPHA:329918
Immunodeficiency 61	Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Arthritis, Recurrent ...	OMIM:300310
Histiocytosis, Familial Lipochrome	Polyarticular arthritis, Increased circulating antibody level, Recurrent infections, Increased al...	OMIM:235900
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c...	OMIM:613494
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections	OMIM:242870
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmunity, Recurrent infections, Elevated circulating C-reactive protein concentration, Persis...	OMIM:615559
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level, BCGitis	OMIM:619549
Autoimmune Lymphoproliferative Syndrome	Platelet antibody positive, Decreased lymphocyte apoptosis, Increased circulating IgA level, Neut...	OMIM:601859
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections, Decreased circulating IgA level, Impaired memory B cell generatio...	OMIM:606843
Agammaglobulinemia 3, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Recurrent otitis media,...	OMIM:613501
Immunodeficiency 33	Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b...	OMIM:300636
Immunoglobulin A Deficiency 1	Recurrent infection of the gastrointestinal tract, Autoimmunity, Decreased circulating IgA level,...	OMIM:137100
Immunodeficiency 14A, Autosomal Dominant	Decreased specific pneumococcal antibody level, Recurrent ear infections, Bronchiectasis, Recurre...	OMIM:615513
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Autoimmunity, Recurrent sinopulmonary infections, Recurrent infe...	OMIM:609529
Immunodeficiency 24	Decreased specific pneumococcal antibody level, Defective T cell proliferation, Severe varicella ...	OMIM:615897
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmunity, Recurrent otitis media, Recurrent urinary tract infections, Increased circulating a...	OMIM:618495
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Glomerulonephritis, Hematuria	OMIM:314000
Immunodeficiency, Common Variable, 3	Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ...	OMIM:613493
Idiopathic Non-Lupus Full-House Nephropathy	Hypertension, Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Decreased ...	ORPHA:567544
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level, Asthma	OMIM:208600
Agammaglobulinemia 6, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Chronic sinusitis, Recu...	OMIM:612692
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ...	OMIM:605258
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent bacterial infections, Autoimmunity, Recurrent opportunistic infections, Decreased circu...	ORPHA:275
Postinfectious Vasculitis	Severe varicella zoster infection, Rheumatoid factor positive, Raynaud phenomenon, Recurrent cand...	ORPHA:48435
Autoimmune Lymphoproliferative Syndrome, Type Iia	Platelet antibody positive, Nephrotic syndrome, Decreased lymphocyte apoptosis, Increased circula...	OMIM:603909
Agammaglobulinemia 4, Autosomal Recessive	Recurrent bacterial infections, Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Re...	OMIM:613502
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Atopic dermatitis, Increased circulating interleukin 6, Decreased circulating IgG level, Recurren...	OMIM:618944
Immunodeficiency, Common Variable, 2	Recurrent bacterial infections, Autoimmunity, Impaired T cell function, Decreased circulating IgA...	OMIM:240500
Complement Component C1R/C1S Deficiency	Autoimmunity, Recurrent bronchitis, Discoid lupus rash, Nephritis, Arthritis, Complement deficiency	OMIM:216950
Leydig Cell Hypoplasia	Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Hyoplasia of the Leydig cells, Abnormal...	ORPHA:755
Immunodeficiency 11	Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia	OMIM:615206
Sting-Associated Vasculopathy, Infantile-Onset	Telangiectasia, Pustule, Myositis, Increased circulating IgA level, Tachypnea, Recurrent infectio...	OMIM:615934
Eosinophilia, Familial	Leukocytosis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia, Eosinophilia	OMIM:131400
Immunodeficiency 35	Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre...	OMIM:611521
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor...	OMIM:308220
Immunodeficiency 72 With Autoinflammation	Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Recurrent infections, Increa...	OMIM:618982
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Complement Component 6 Deficiency	Reduced hemolytic complement activity, Recurrent meningococcal disease, Decreased serum complemen...	OMIM:612446
Complement Component 4A Deficiency	Reduced hemolytic complement activity, Decreased serum complement C4, Systemic lupus erythematosu...	OMIM:614380
Immunodeficiency, Common Variable, 1	Recurrent bacterial infections, Pneumonia, Impaired T cell function, Decreased circulating IgA le...	OMIM:607594
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Tachypnea, Pulmonary hemorrhage, Cough, Arthritis, Crescentic glomerulonephritis, Mesangial hyper...	OMIM:616414
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Erythroderma, Increased circulating IgA level, Recurrent viral infections, Decreased lymphocyte p...	ORPHA:169154
Immunodeficiency, Common Variable, 10	Anti-thyroid peroxidase antibody positivity, Psoriasiform dermatitis, Decreased circulating IgA l...	OMIM:615577
Hyperimmunoglobulin G1(A1) Syndrome	Increased circulating IgA level, Increased circulating IgG level	OMIM:144120
Caspase 8 Deficiency	Eczema, Pneumonia, Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary inf...	OMIM:607271
Complement Component 8 Deficiency, Type I	Meningitis, Systemic lupus erythematosus, Decreased serum complement C8	OMIM:613790
Complement Factor I Deficiency	Sinusitis, Decreased serum complement factor H, Recurrent otitis media, Pyelonephritis, Decreased...	OMIM:610984
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis...	OMIM:608184
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl...	ORPHA:209004
Chilblain Lupus	Inflammatory abnormality of the skin, Discoid lupus rash, Systemic lupus erythematosus, Rheumatoi...	ORPHA:90280
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ...	OMIM:607685
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag...	OMIM:614699
Simple Cryoglobulinemia	Rheumatoid factor positive, Raynaud phenomenon, Mesangial hypercellularity, Gastrointestinal hemo...	ORPHA:91139
Complement Component 7 Deficiency	Decreased serum complement C7, Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent respiratory infections, Decreased circulating antibody level, Recurrent infections, Rec...	OMIM:617744
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Autoimmunity, Lack of T cell function, Recurrent herpes, Neutropenia in presence of an...	ORPHA:572
Immunodeficiency 27A	Pneumonia, Salmonella osteomyelitis, Increased circulating IgG level, Rheumatoid factor positive,...	OMIM:209950
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Autoimmunity, Recurrent viral infections, Decreased circulating a...	ORPHA:169079
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Sinusitis, Pulmonary insufficiency, Autoimmunity, Anti-thyroid peroxidase antibody positivity, In...	ORPHA:277
Pulmonary Nodular Lymphoid Hyperplasia, Familial	IgA deposition in the glomerulus, Systemic lupus erythematosus, Increased circulating antibody le...	OMIM:178610
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Agammaglobulinemia 1, Autosomal Recessive	Sinusitis, Recurrent bacterial infections, Agammaglobulinemia, Pneumonia, Bronchiectasis, Decreas...	OMIM:601495
Autoinflammation With Arthritis And Dyskeratosis	Keratoconjunctivitis sicca, Polyarticular arthritis, Increased circulating IgA level, Antinuclear...	OMIM:617388
Whim Syndrome 1	Recurrent bacterial infections, Bronchiectasis, Decreased circulating IgG level, Decreased circul...	OMIM:193670
Autoimmune Hepatitis	Spider hemangioma, Inflammation of the large intestine, Sclerosing cholangitis, Antineutrophil an...	ORPHA:2137
Immune Deficiency, Familial Variable	Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections	OMIM:146830
Ovarian Dysgenesis 2	Secondary amenorrhea, Hirsutism, Abnormality of the uterus, Primary amenorrhea, Premature ovarian...	OMIM:300510
Immunodeficiency 88	Eosinophilia	OMIM:619630
Complement Factor D Deficiency	Complement deficiency, Recurrent bacterial infections	OMIM:613912
Severe Combined Immunodeficiency, X-Linked	Agammaglobulinemia, Pneumonia, Decreased circulating IgA level, Recurrent fungal infections, Redu...	OMIM:300400
Ectodermal Dysplasia And Immunodeficiency 1	Recurrent bacterial infections, Increased circulating IgA level, Reduced natural killer cell acti...	OMIM:300291
Pgm3-Cdg	Autoimmunity, Eczema, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Chronic otiti...	ORPHA:443811
Satoyoshi Syndrome	Abnormality of the ovary, Genu varum, Abnormality of femur morphology, Abnormality of the knee, S...	ORPHA:3130
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Autoimmunity, Cholangitis, Decreased specific pneumococcal antibody level, Sepsis, Recurrent herp...	ORPHA:183675
Lipodystrophy, Partial, Acquired, Susceptibility To	Nephrotic syndrome, Abnormal circulating lipid concentration, Hematuria, Recurrent infections, De...	OMIM:608709
Lymphoproliferative Syndrome, X-Linked, 1	Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating antibody lev...	OMIM:308240
Ring Chromosome Y Syndrome	Hypospadias, Bifid scrotum, Short stature, Abnormality of the male genitalia, Ambiguous genitalia...	ORPHA:261529
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia	OMIM:131440
Adult Idiopathic Neutropenia	Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur...	ORPHA:2688
Insulin Autoimmune Syndrome	Autoimmunity, Arthralgia/arthritis, Systemic lupus erythematosus, Autoimmune antibody positivity,...	ORPHA:411593
Masp2 Deficiency	Complement deficiency, Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Psoriasiform dermatitis, Eczema, Sepsis, Bronchiectasis, Decreased circulating IgA level, Decreas...	OMIM:616100
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Abnormal vagina morphology, Shield chest, Hirsutism, Frontal balding, S...	ORPHA:247768
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunodeficiency 23	Eczema, Allergic rhinitis, Severe varicella zoster infection, Bronchiectasis, Increased circulati...	OMIM:615816
Complement Component 8 Deficiency, Type Ii	Meningitis, Decreased serum complement C8, Recurrent Neisserial infections	OMIM:613789
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Premature Ovarian Failure 19	Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency	OMIM:619245
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Severe toxoplasmosis, Coccidioidomycosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel...	ORPHA:319552
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu...	OMIM:202700
Selective Igm Deficiency	Autoimmunity, Sepsis, Non-infectious meningitis, Severe varicella zoster infection, Recurrent her...	ORPHA:331235
Mannose-Binding Lectin Deficiency	Recurrent herpes, Disseminated cryptosporidium infection, Recurrent skin infections, Recurrent me...	OMIM:614372
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent ...	ORPHA:276
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level, Recurrent respiratory infections	OMIM:137050
Immunodeficiency 51	Eczema, Folliculitis, Pustule, Pneumonia, Chronic furunculosis, Recurrent bronchitis, Chronic ora...	OMIM:613953
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Complement Factor H Deficiency	Recurrent bacterial infections, Decreased serum complement factor H, Hematuria, Depletion of comp...	OMIM:609814
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level, Recurrent infections	OMIM:614102
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Androgen Insensitivity, Partial	Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch...	OMIM:312300
Immunodeficiency With Hyper-Igm, Type 1	Recurrent bacterial infections, Sepsis, Stomatitis, Decreased circulating IgA level, Impaired mem...	OMIM:308230
Immunodeficiency 36	Recurrent bacterial infections, Autoimmunity, Bronchiectasis, Decreased circulating antibody leve...	OMIM:616005
Candidiasis, Familial, 2	Chronic oral candidiasis, Decreased serum iron, Chronic tinea infection, Onychomycosis, Increased...	OMIM:212050
Iga Pemphigus	Pustule, Increased circulating IgA level, Neutrophilic infiltration of the skin, Autoimmune antib...	ORPHA:555905
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Decreased circulating antibody level, Agammaglobulinemia, Recurrent infections	OMIM:616911
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating total IgA, Erythroderma, Pneumonia, Recurrent herpes, Failure to thrive sec...	ORPHA:169160
Schnitzler Syndrome	Arthritis, Vasculitis, Increased circulating IgM level, Increased bone mineral density, Skin rash	ORPHA:37748
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Recurrent bronchitis, Decreased circulating IgG level, Otitis media	OMIM:312863
17Q23.1Q23.2 Microdeletion Syndrome	Highly arched eyebrow, Intrauterine growth retardation, Short stature, Chronic otitis media, Long...	ORPHA:261279
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Nephrotic syndrome, Hematuria, Recurrent infections, Decreased serum complement C3, Membranoproli...	OMIM:613913
Heparin-Induced Thrombocytopenia	Cerebral ischemia, Myocardial infarction, Increased inflammatory response, Autoimmune thrombocyto...	ORPHA:3325
Neutropenia, Chronic Familial	Periodontitis, Increased circulating antibody level	OMIM:162700
Igg4-Related Aortitis	Autoimmunity, Hydronephrosis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo...	ORPHA:449400
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Decreased circulating total IgM, Recurrent infections, Decreased...	OMIM:616452
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anti-glutamic acid decarboxylase antibody positivity, Eczema, Erythroderma, Hepatitis, Arthritis,...	OMIM:304790
Immune Deficiency Disease	Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis, Dec...	OMIM:242850
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty	OMIM:618117
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Thymoma	Autoimmunity, Abnormal lymphocyte proliferation, Anti-acetylcholine receptor antibody positivity,...	ORPHA:99867
Immunodeficiency 60 And Autoimmunity	Bronchiectasis, Decreased circulating IgA level, Recurrent sinopulmonary infections, Decreased ci...	OMIM:618394
Primary Biliary Cholangitis	Autoimmunity, Increased circulating IgA level, Orthostatic hypotension, Abnormal circulating lipi...	ORPHA:186
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati...	OMIM:617765
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Anti-thyroid peroxidase antibody positivity, Autoimmunity, Decreased prealbumin level, Eczema, Tu...	ORPHA:37042
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia	ORPHA:517
Immunodeficiency 14B, Autosomal Recessive	Polyarticular arthritis, Inflammation of the large intestine, Decreased circulating IgA level, Re...	OMIM:619281
Diethylstilbestrol Syndrome	Hypospadias, Testicular dysgenesis, Small for gestational age, Abnormal reproductive system morph...	ORPHA:1916
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Immunodeficiency 48	Eczematoid dermatitis, Panhypogammaglobulinemia, Recurrent candida infections, Pneumonia	OMIM:269840
Acute Lung Injury	Shock, Hypoxemia, Abnormality of serum cytokine level, Increased circulating interleukin 6, Incre...	ORPHA:178320
Bare Lymphocyte Syndrome, Type Ii	Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Recurre...	OMIM:209920
Immunodeficiency 50	Recurrent urinary tract infections, Eczema, Decreased circulating antibody level, Recurrent respi...	OMIM:300988
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis, Asthma	OMIM:147050
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increase...	OMIM:617241
Immunodeficiency, Common Variable, 12, With Autoimmunity	Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Decreased circ...	OMIM:616576
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent bacterial infections, Autoimmunity, Decreased circulating IgA level, Lymphadenitis, Dec...	ORPHA:331206
Wiskott-Aldrich Syndrome, Autosomal Dominant	Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve...	OMIM:600903
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Eczematoid dermatitis, Recurrent sinopulmonary infections, Recurrent fungal infections, Craniosyn...	OMIM:147060
Combined Immunodeficiency Due To Dock8 Deficiency	Atopic dermatitis, Pneumonia, Chronic otitis media, Recurrent viral infections, Onychomycosis, In...	ORPHA:217390
Autoimmune Lymphoproliferative Syndrome	Autoimmunity, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, Rheumatoid factor ...	ORPHA:3261
Lupus Erythematosus Tumidus	Anti-La/SS-B antibody positivity, Deep dermal perivascular inflammatory infiltrate, Autoimmune an...	ORPHA:90283
Tubulointerstitial Nephritis With Uveitis	Elevated circulating creatinine concentration, Reversible renal failure, Circulating immune compl...	OMIM:607665
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Ovarian Dysgenesis 5	Primary amenorrhea, Short stature, Hypoplasia of the uterus	OMIM:617690
Premature Ovarian Failure 7	Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop...	OMIM:612964
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh...	OMIM:614837
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Recurrent opportunistic infections, Pneumonia, Failure to thrive secondary to recurrent infection...	OMIM:601457
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, 2-3 toe syndactyly, Sparse eyelashes, Ankyloblepharon, Nail dystrophy, Absent eyelas...	OMIM:106260
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Decreased circulating IgG level, Increased circulating IgE l...	OMIM:615767
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgG, Decreased circulating antibody ...	OMIM:618969
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Autoimmune thrombocytopenia, Thyroiditis, Recurrent respiratory inf...	OMIM:619375
Thymic Aplasia	Sinusitis, Autoimmunity, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida in...	ORPHA:83471
Hyperimmunoglobulinemia D With Periodic Fever	Peritonitis, Increased circulating IgA level, Arthritis, Gastrointestinal hemorrhage, Vasculitis,...	ORPHA:343
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Antinuclear antibody positiv...	ORPHA:90159
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Short stature, Abnormality of the elbow, Pectus carinatum, Synophrys, Epicanthus, Finger syndacty...	ORPHA:3268
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM	OMIM:618987
Immunodeficiency 7	Hypereosinophilia	OMIM:615387
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Panniculitis, Vasculitis, Increased circulating IgM level, Skin ...	OMIM:617099
Wiskott-Aldrich Syndrome	Sepsis, Eczema, Inflammation of the large intestine, Recurrent herpes, Melena, Decreased circulat...	OMIM:301000
Limb-Mammary Syndrome	Psoriasiform dermatitis, Aplasia of the uterus, Absent lacrimal punctum, Toe syndactyly, Hypoplas...	ORPHA:69085
Persistent Polyclonal B-Cell Lymphocytosis	Recurrent infections, Decreased circulating total IgM	OMIM:606445
Igg4-Related Kidney Disease	Tubulointerstitial nephritis, Rheumatoid factor positive, Chronic kidney disease, Elevated circul...	ORPHA:449395
Systemic Lupus Erythematosus	Lupus nephritis, Pericarditis, Systemic lupus erythematosus, Nephritis, Arthritis, Malar rash, An...	OMIM:152700
Purine Nucleoside Phosphorylase Deficiency	Sinusitis, Hypouricemia, Recurrent bacterial infections, Recurrent opportunistic infections, Pneu...	OMIM:613179
Boutonneuse Fever	Increased circulating IgG level, Vasculitis, Increased circulating IgM level, Maculopapular exant...	ORPHA:83313
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Interstitial pneumonitis, Decreased circulating IgA level, Recurrent infections, Bronchiolitis, D...	OMIM:614878
Ras-Associated Autoimmune Leukoproliferative Disorder	Autoimmunity, Decreased lymphocyte apoptosis, Recurrent infections, Increased circulating antibod...	OMIM:614470
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Agammaglobulinemia, Recurrent infections	OMIM:615214
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Recurrent bronchopulmonary infections, Decreased circulating total IgM	OMIM:610798
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c...	ORPHA:562639
Adult Acute Respiratory Distress Syndrome	Shock, Hypoxemia, Sepsis, Increased circulating interleukin 6, Pneumonia, Pancreatitis, Abnormal ...	ORPHA:70578
Satoyoshi Syndrome	Short stature, Amenorrhea, Short metatarsal, Alopecia, Genu valgum, Short metacarpal, Alopecia un...	OMIM:600705
Immunoglobulin M, Level Of	Meningitis, Decreased circulating total IgM	OMIM:308250
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog...	ORPHA:168563
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder...	OMIM:307200
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Normosmic Congenital Hypogonadotropic Hypogonadism	Secondary amenorrhea, Azoospermia, Sparse body hair, Hypogonadotropic hypogonadism, Hypoplasia of...	ORPHA:432
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections	OMIM:233650
Agammaglobulinemia 8, Autosomal Dominant	Agammaglobulinemia, Recurrent infections, Recurrent otitis media	OMIM:616941
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa...	OMIM:619201
Kennerknecht Syndrome	Toe syndactyly, Omphalocele, Abnormal joint morphology, Short stature, Long eyelashes, Agonadism,...	OMIM:600908
Hyper-Igd Syndrome	Increased circulating IgA level, Lymphadenitis, Chronic oral candidiasis, Recurrent infections, A...	OMIM:260920
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Autoimmunity, Eczema, Decreased circulating antibody level, Recurrent infections, Septic arthriti...	OMIM:617780
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility	ORPHA:48
Seckel Syndrome 7	Abnormality of the carpal bones, Intrauterine growth retardation, Severe short stature, Hip dyspl...	OMIM:614851
Macrosomia Adiposa Congenita	Eosinophilia	OMIM:248100
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Eczema, Bronchiectasis, Recurrent otitis media, Craniosynostosis, Joint contracture of the hand, ...	OMIM:618523
Transcobalamin Deficiency	Methylmalonic aciduria, Decreased circulating IgA level, Decreased circulating IgG level, Decreas...	ORPHA:859
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Recurrent bacterial infections, Pneumonia, Decreased circulating IgA level, Recurrent ...	OMIM:102700
Moebius Syndrome	Abnormality of the ulna, Ptosis, Aplasia/Hypoplasia of the thumb, Hypogonadotropic hypogonadism, ...	ORPHA:570
Diffuse Alveolar Hemorrhage	Hypoxemia, Autoimmunity, Antinuclear antibody positivity, Decreased serum complement C4, Elevated...	ORPHA:90060
Perrault Syndrome 3	Hypoplasia of the uterus, Primary amenorrhea, Short stature, Hypergonadotropic hypogonadism	OMIM:614129
Cirrhosis, Familial	Chronic active hepatitis, Increased circulating antibody level, Hepatitis	OMIM:118900
Testicular Agenesis	Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen...	ORPHA:325124
Acute Zonal Occult Outer Retinopathy	Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig...	ORPHA:284454
Premature Ovarian Failure 3	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus	OMIM:608996
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Decreased circulating antibody level	OMIM:616873
Clouston Syndrome	Fine hair, Sparse eyelashes, Short stature, Absent pubic hair, Brittle hair, Nail dystrophy, Alop...	OMIM:129500
Lymphoid System Deterioration, Progressive	Decreased circulating IgG level, Decreased circulating total IgM	OMIM:247630
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis, Recurrent infections	OMIM:618985
Idiopathic Pulmonary Hemosiderosis	Restrictive ventilatory defect, Crackles, Glomerulonephritis, Antineutrophil antibody positivity,...	ORPHA:99931
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating antibody level, Recurrent infections, Skin rash	OMIM:618048
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits	ORPHA:69063
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma...	ORPHA:48377
Chronic Myeloid Leukemia	Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple...	ORPHA:521
Perrault Syndrome 6	Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula...	OMIM:617565
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi...	OMIM:617609
X-Linked Lymphoproliferative Disease	Myocarditis, Autoimmunity, Inflammation of the large intestine, Decreased circulating IgA level, ...	ORPHA:2442
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Immunodeficiency, Common Variable, 8, With Autoimmunity	Sepsis, Inflammation of the large intestine, Recurrent infections, Uveitis, Decreased circulating...	OMIM:614700
Immunodeficiency 52	Bronchiectasis, Decreased circulating antibody level, Recurrent infections, Autoimmune thrombocyt...	OMIM:617514
Premature Ovarian Failure 6	Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema...	OMIM:612310
Immunodeficiency 85 And Autoimmunity	Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ...	OMIM:619510
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Folliculitis, Dystrophic fingernails, Ectropion, Scarring alopecia of scalp, Co...	OMIM:308800
Angiostrongyliasis	Stiff neck, Increased circulating IgA level, Increased circulating IgG level, Increased circulati...	ORPHA:74
Insulin-Resistance Syndrome Type B	Autoimmunity, Pneumonia, Increased circulating IgA level, Abnormal circulating lipid concentratio...	ORPHA:2298
Nephrotic Syndrome, Type 10	Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon...	OMIM:615861
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Sparse eyelashes, Folliculitis, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Keratitis, ...	OMIM:612843
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Highly arched eyebrow, Amenorrhea, Ptosis, Telecanthus, Sparse pubic hair, Increased...	OMIM:110100
Macrophage Activation Syndrome	Autoimmunity, Increased circulating interleukin 6, Systemic lupus erythematosus, Hepatitis, Incre...	ORPHA:158061
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Primary amenorrhea, Absent pu...	OMIM:614841
Nephrotic Syndrome, Type 7	Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur...	OMIM:615008
Lassa Fever	Shock, Sepsis, Cough, Oliguria, Increased circulating IgM level, Dyspnea, Conjunctivitis	ORPHA:99824
Complement Factor B Deficiency	Recurrent bacterial infections, Pneumonia, Peritonitis, Decreased serum complement factor B, Meni...	OMIM:615561
Complement Component C1S Deficiency	Abnormality of complement system, Hashimoto thyroiditis, Systemic lupus erythematosus, Hepatitis	OMIM:613783
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent fungal infections, Recurrent...	OMIM:243700
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Reduced delayed hypersensitivity	OMIM:607624
Schimke Immuno-Osseous Dysplasia	Autoimmunity, Hyperlipidemia, Recurrent infections, Cerebral ischemia, Shallow acetabular fossae,...	ORPHA:1830
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Sinusitis, Atopic dermatitis, Decreased specific antibody response to polysaccharide vaccine, Rhi...	ORPHA:70593
Loeffler Endocarditis	Left atrial enlargement, Pericarditis, Endocardial fibrosis, Abnormal morphology of the chordae t...	ORPHA:75566
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Psoriasiform dermatitis, Developmental cataract, Short stature, Failure to thrive, Blepharitis, D...	OMIM:616834
Bacterial Toxic-Shock Syndrome	Sinusitis, Myocarditis, Sepsis, Severe varicella zoster infection, Fasciitis, Hepatitis, Septic a...	ORPHA:36234
Mucopolysaccharidosis-Plus Syndrome	Hypertrophic cardiomyopathy, Renal tubular atrophy, Focal segmental glomerulosclerosis, Sepsis, N...	OMIM:617303
Immunodeficiency 92	Cholangitis, Pneumonia, BCGosis, Decreased circulating IgA level, Recurrent oral herpes, Decrease...	OMIM:619652
Acromesomelic Dysplasia 3	Fibular aplasia, Tarsal synostosis, Short finger, Disproportionate short-limb short stature, Shor...	OMIM:609441
Hypocomplementemic Urticarial Vasculitis	Autoimmunity, Uveitis, Restrictive ventilatory defect, Emphysema, Conjunctivitis, Skin rash, Glom...	ORPHA:36412
Primary Membranoproliferative Glomerulonephritis	Hypertension, C3 nephritic factor positivity, Nephrotic syndrome, Stage 5 chronic kidney disease,...	ORPHA:54370
Perrault Syndrome 4	Secondary amenorrhea, Oligomenorrhea, Cubitus valgus, Hypoplasia of the ovary, Increased circulat...	OMIM:615300
Oocyte Maturation Defect 9	Female infertility, Oocyte arrest at metaphase I	OMIM:619011
Interstitial Lung Disease 2	Pulmonary arterial hypertension, Cough, Exertional dyspnea, Increased circulating antibody level,...	OMIM:178500
Cornelia De Lange Syndrome	Hypospadias, Abnormality of the ulna, Hypoplastic nipples, Short stature, Curly eyelashes, Proxim...	ORPHA:199
Multiple Myeloma	Hyperproteinemia, Hypercalcemia, Nephrotic syndrome, Increased circulating IgA level, Elevated ci...	ORPHA:29073
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media	OMIM:616022
Halothane Hepatitis	Eosinophilia	OMIM:234350
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I	ORPHA:488191
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir...	ORPHA:470
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent bacterial infections, Psoriasiform dermatitis, Eczema, Severe varicella zoster infectio...	OMIM:606367
Zika Virus Disease	Wrist swelling, Infectious encephalitis, Ankle swelling, Arthritis, Meningitis, Increased circula...	ORPHA:448237
Ovarian Dysgenesis 9	Elevated circulating follicle stimulating hormone level, Hypoplasia of the ovary, Primary amenorr...	OMIM:619665
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Polyarticular arthritis, Synovitis, Rheumatoid factor positive, Symmetric polyarthritis, Osteopen...	ORPHA:85435
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ...	ORPHA:567548
Lymphoproliferative Syndrome 1	Autoimmunity, Stomatitis, Decreased circulating IgG level, Decreased circulating antibody level, ...	OMIM:613011
Erythema Elevatum Diutinum	Increased circulating antibody level, Vasculitis in the skin, Skin rash	ORPHA:90000
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo...	ORPHA:911
Immunodeficiency 12	Recurrent bacterial infections, Recurrent viral infections, Osteoporosis	OMIM:615468
Idiopathic Chronic Eosinophilic Pneumonia	Wheezing, Hypoxemia, Autoimmunity, Atopic dermatitis, Crackles, Increased circulating IgE level, ...	ORPHA:2902
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c...	ORPHA:69126
Thrombocytopenia 1	Eczema, Increased circulating IgA level, Joint hemorrhage, Epistaxis, Increased circulating IgE l...	OMIM:313900
Catastrophic Antiphospholipid Syndrome	Myocarditis, Anti-beta 2 glycoprotein I antibody positivity, Abnormality of serum cytokine level,...	ORPHA:464343
Immunodeficiency 43	Hypoproteinemia, Bronchiectasis, Decreased circulating IgG level, Hypoalbuminemia, Recurrent resp...	OMIM:241600
Neurodegeneration, Infantile-Onset, Biotin-Responsive	Decreased circulating IgG level	OMIM:618973
Igg4-Related Retroperitoneal Fibrosis	Anti-thyroid peroxidase antibody positivity, Rheumatoid factor positive, Ureteropelvic junction o...	ORPHA:49041
Eec Syndrome	Hypospadias, Corneal erosion, Short stature, Aplasia/Hypoplasia of the thumb, Hypoplasia of the t...	ORPHA:1896
Estrogen Resistance	Acne, Primary amenorrhea, Hypoplasia of the uterus	OMIM:615363
Omenn Syndrome	B lymphocytopenia, Hepatomegaly, Hypoplasia of the thymus, Alopecia, Anemia, Splenomegaly, Severe...	OMIM:603554
Xeroderma Pigmentosum	Short stature, Ectropion, Failure to thrive, Ankyloblepharon, Conjunctival telangiectasia, Alopec...	ORPHA:910
Immunodeficiency 34	Recurrent mycobacterial infections, Severe recurrent varicella	OMIM:300645
Amed Syndrome, Digenic	Short stature, Failure to thrive, Telecanthus, Long thumb, Hypoplasia of the uterus	OMIM:619151
Immunodeficiency 91 And Hyperinflammation	Nephrotic syndrome, BCGosis, Hemolytic-uremic syndrome, Pulmonary hemorrhage, Recurrent lower res...	OMIM:619644
Kid Syndrome	Sparse eyelashes, Corneal erosion, Acne inversa, Limbal stem cell deficiency, Postnatal growth re...	ORPHA:477
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Short stature, Azoospermia, Bicornuate uterus, Abnormal rib mor...	ORPHA:2578
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Increased circulating IgM ...	OMIM:242860
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypospadias, Short stature, Elevated circulating follicle stimulating hormone level, Sparse pubic...	ORPHA:90796
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Azoospermia, Bicornuate uterus, Sprengel anomaly, Hypoplasia of the uterus	OMIM:601076
Kimura Disease	Eosinophilia	ORPHA:482
X-Linked Immunoneurologic Disorder	Functional abnormality of the bladder, Recurrent respiratory infections, Decreased circulating Ig...	ORPHA:2571
Oocyte Maturation Defect 2	Female infertility, Oocyte arrest at metaphase I	OMIM:616780
Lichtenstein Syndrome	C1-C2 subluxation, Decreased circulating IgA level, Increased susceptibility to fractures, Osteop...	OMIM:246550
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Premature Ovarian Failure 18	Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ...	OMIM:619203
Pauci-Immune Glomerulonephritis	Tubulointerstitial nephritis, Antinuclear antibody positivity, Decreased glomerular filtration ra...	ORPHA:93126
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmunity, Eczema, Polyarticular arthritis, Interstitial pneumonitis, Neutropenia in presence ...	OMIM:615952
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance	Eczema, Short stature, External genital hypoplasia, Epicanthus, Postnatal growth retardation, Dec...	OMIM:612947
C3 Glomerulopathy 3	Hematuria, Glomerulonephritis, Renal insufficiency, Stage 5 chronic kidney disease	OMIM:614809
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormality of the humeroulnar joint, Short stature, Small scrotum, Eunuchoid habitus, Hypogonadi...	ORPHA:2234
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse eyelashes, Hypoplastic nipples, Dacryocystitis, Sparse pubic hair, Micropenis, Sparse and ...	OMIM:604292
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Recurrent infections	OMIM:615285
Ichthyosis, Congenital, Autosomal Recessive 11	Brittle hair, Curly hair, Pili torti, Corneal opacity, Sparse and thin eyebrow, Sparse hair, Blep...	OMIM:602400
Ficolin 3 Deficiency	Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection...	OMIM:613860
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Mosaic Trisomy 14	Hypospadias, Ptosis, Failure to thrive, Narrow chest, Abnormal rib morphology, Camptodactyly of f...	ORPHA:1703
Cinca Syndrome	Leukocytosis, Anemia, Papilledema, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Oocyte Maturation Defect 8	Female infertility	OMIM:619009
Immunodeficiency 37	Decreased circulating antibody level, Infectious encephalitis, Recurrent infections, Colitis	OMIM:616098
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Eosinophilia, Alopecia	OMIM:618282
Subacute Inflammatory Demyelinating Polyneuropathy	Limited elbow flexion, Limitation of movement at ankles, Increased circulating IgG level, Limited...	ORPHA:206594
Pneumocystosis	Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Chronic oral candidiasis, Exertio...	ORPHA:723
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Oligoarthritis, Knee osteoarthritis, Joint hypermobility, Rheumatoid arthritis, Uve...	ORPHA:85410
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM	OMIM:300861
Brucellosis	Myocarditis, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, Transient ischemi...	ORPHA:1304
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Telecanthus, Femal...	ORPHA:572333
Poikiloderma With Neutropenia	Short stature, Recurrent otitis media, Recurrent pneumonia, Blepharitis, Recurrent sinusitis, Con...	OMIM:604173
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Sepsis, Recurrent respiratory infections, Conjunctivitis, Hypertrophic cardiomyopathy, Mitral reg...	ORPHA:505248
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse eyelashes, Hypoplastic nipples, Dacryocystitis, Telecanthus, Sparse pubic hair, Micropenis...	OMIM:129900
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Flotch Syndrome	Sparse eyelashes, Abnormal eyelid morphology, Inflammatory abnormality of the eye, Blepharitis, A...	ORPHA:2045
Immunodeficiency 67	Increased circulating IgE level, Recurrent staphylococcal infections, Recurrent streptococcal inf...	OMIM:607676
Complete Androgen Insensitivity Syndrome	Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in...	ORPHA:99429
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Eczema, Abnormal hair morphology, Thin eyebrow, Corneal erosion, Abnormal dental ena...	ORPHA:2273
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent infection of the gastrointestinal tract, Pustule, Lack of T cell function, Recurrent op...	ORPHA:35078
Roifman Syndrome	Hepatomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Prominent eyelashes, Retin...	OMIM:616651
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of serum cytokine level, Increased circulating interleukin 6, Erythroderma, Infectiou...	ORPHA:540
Eosinophil Peroxidase Deficiency	Abnormal eosinophil morphology	OMIM:261500
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Hepatitis, Decreased circulating antibody leve...	OMIM:300635
Psoriasis-Related Juvenile Idiopathic Arthritis	Autoimmunity, Psoriasiform dermatitis, Polyarticular arthritis, Abnormality of the knee, Oligoart...	ORPHA:85436
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change...	OMIM:616730
Prolidase Deficiency	Diffuse telangiectasia, Eczema, Systemic lupus erythematosus, Recurrent infections, Crusting eryt...	OMIM:170100
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i...	ORPHA:983
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Pneumonia, Budd-Chiari syndrome, Decreased circulating antibody level, Recurrent...	OMIM:226300
Igg4-Related Dacryoadenitis And Sialadenitis	Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Myositis, Increased circu...	ORPHA:79078
Mu-Heavy Chain Disease	Bence Jones Proteinuria, Osteoporosis, Increased circulating antibody level, Nephropathy, Osteolysis	ORPHA:100024
X-Linked Agammaglobulinemia	Sinusitis, Autoimmunity, Sepsis, Agammaglobulinemia, Recurrent cutaneous abscess formation, Chron...	ORPHA:47
Hemorrhagic Fever-Renal Syndrome	Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Respiratory failure, ...	ORPHA:340
Thymic Tumor	Autoimmunity, Pericarditis, Cough, Dysgammaglobulinemia, Cardiac arrest, Dyspnea	ORPHA:100100
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Acrodermatitis Enteropathica	Pustule, Corneal erosion, Short stature, Cheilitis, Failure to thrive, Weight loss, Alopecia, Abn...	ORPHA:37
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM	ORPHA:2643
Dyskeratosis Congenita	Intrauterine growth retardation, Short stature, Abnormal morphology of female internal genitalia,...	ORPHA:1775
Autosomal Agammaglobulinemia	Sinusitis, Sepsis, Agammaglobulinemia, Bronchiectasis, Chronic otitis media, Hepatitis, Recurrent...	ORPHA:33110
Palmoplantar Keratoderma, Epidermolytic	Increased circulating IgE level	OMIM:144200
Androgen Insensitivity Syndrome	Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o...	ORPHA:754
Tularemia	Brain abscess, Pneumonia, Cough, Tachycardia, Respiratory distress, Increased circulating antibod...	ORPHA:3392
Tempi Syndrome	Telangiectasia, Hypoxemia, Intracranial hemorrhage, Increased circulating IgG level, Transudative...	ORPHA:284227
Systemic Sclerosis	Right ventricular failure, Syncope, Myocarditis, Raynaud phenomenon, Intestinal bleeding, Chronic...	ORPHA:90291
Autosomal Dominant Spondylocostal Dysostosis	Intrauterine growth retardation, Abnormal morphology of female internal genitalia, Upslanted palp...	ORPHA:1797
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmunity, Recurrent otitis media, Systemic lupus erythematosus, Hepatitis, Autoimmune thrombo...	ORPHA:444463
Cherubism	Marcus Gunn pupil, Optic neuropathy, Macular scar	OMIM:118400
Renal Cysts And Diabetes Syndrome	Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Reduced sperm motility, Gout, Bicornuat...	OMIM:137920
Coccidioidomycosis	Vasospasm, Cerebral ischemia, Pleural empyema, Vasculitis, Unusual CNS infection, Morbilliform ra...	ORPHA:228123
46,Xy Sex Reversal 3	Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E...	OMIM:612965
Cd8 Deficiency, Familial	Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro...	OMIM:608957
Wells Syndrome	Eosinophilia	ORPHA:901
Estrogen Resistance Syndrome	Acne, Delayed epiphyseal ossification, Increased circulating gonadotropin level, Primary amenorrh...	ORPHA:785
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Hernia of the abdominal wall, Aplasia/Hypoplasia of fingers, Broad hallux phalanx, Toe syndactyly...	ORPHA:3082
Cystic Echinococcosis	Membranous nephropathy, Unusual infection, Renal cyst, Hyperbilirubinemia, Increased circulating ...	ORPHA:400
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8, Parotitis, Camptodactyly of finger, Elevated circulating C-r...	OMIM:256040
Renpenning Syndrome	Hypospadias, Pectus excavatum, Cachexia, Thin eyebrow, Growth delay, Abnormal hair laboratory exa...	ORPHA:3242
Aromatase Deficiency	Macroorchidism, postpubertal, Growth delay, Ambiguous genitalia, female, Delayed epiphyseal ossif...	ORPHA:91
Pyoderma Gangrenosum	Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe...	ORPHA:48104
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Azoospermia	OMIM:300985
Aicardi-Goutieres Syndrome 7	Atopic dermatitis, Increased circulating antibody level, Vasculitis, Nephrotic syndrome	OMIM:615846
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Roifman Syndrome	Noncompaction cardiomyopathy, Prominent eyelashes, Retinal dystrophy, Hepatosplenomegaly, Eosinop...	ORPHA:353298
46,Xy Sex Reversal 11	Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Elevate...	OMIM:273250
O'Sullivan-Mcleod Syndrome	Tremor, Eosinophilia	ORPHA:99965
10Q22.3Q23.3 Microduplication Syndrome	Hypospadias, Chronic otitis media, Upslanted palpebral fissure, Abnormal clavicle morphology, Amb...	ORPHA:276422
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Narrow chest, Bell-shaped thorax, ...	OMIM:615633
Ifap Syndrome 2	Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Angular cheilitis, Keratitis, Posterior ble...	OMIM:619016
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Failure to thrive, Female infertility, Short stature, Premature ovarian insufficiency	OMIM:619518
Q Fever	Myocarditis, Hepatitis, Rheumatoid factor positive, Vasculitis, Maculopapular exanthema, Abnormal...	ORPHA:781
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Eosinophilia, Thin eyebrow	OMIM:618092
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Decreased serum complement C4, ...	ORPHA:231111
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Chromosome 16Q22 Deletion Syndrome	Hypospadias, Highly arched eyebrow, Growth delay, Small for gestational age, Failure to thrive, U...	OMIM:614541
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Eczema, Inflammation of the large intestine, Decreased circulating IgG level, Apnea, Recurrent in...	OMIM:608809
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis, Joint laxity	ORPHA:2172
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections	OMIM:614868
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM	OMIM:251190
Immunodeficiency 46	Sepsis, Recurrent sinopulmonary infections, Chronic oral candidiasis, Decreased circulating antib...	OMIM:616740
Primary Sjögren Syndrome	Tubulointerstitial nephritis, Decreased circulating antibody level, Raynaud phenomenon, Parotitis...	ORPHA:289390
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Autoimmune antibody positivity	ORPHA:90003
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ...	ORPHA:656
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Marfanoid Habitus With Microcephaly And Glomerulonephritis	Glomerulonephritis, Renal insufficiency, Joint laxity	OMIM:248760
Membranoproliferative Glomerulonephritis, X-Linked	Cardiac shunt, Membranoproliferative glomerulonephritis	OMIM:305800
Omenn Syndrome	Leukocytosis, Hepatomegaly, Eosinophilia, Alopecia, Abnormal lymphocyte morphology, Anemia, Splen...	ORPHA:39041
Inclusion Body Myositis	Elevated circulating creatine kinase concentration, Autoimmunity	ORPHA:611
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Renal tubular atrophy, Eczema, Focal segmental glomerulosclerosis, Minima...	OMIM:618348
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder, Decreased circulating IgG2 level	OMIM:300076
Oocyte Maturation Defect 11	Female infertility	OMIM:619643
Oocyte Maturation Defect 7	Female infertility	OMIM:618550
Oocyte Maturation Defect 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Preimplantation Embryonic Lethality 1	Female infertility	OMIM:616814
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Filippi Syndrome	Intrauterine growth retardation, Hypertrichosis, 2-4 toe syndactyly, Postnatal growth retardation...	OMIM:272440
Polyendocrine-Polyneuropathy Syndrome	Hypogonadism, Postnatal growth retardation, Short stature	OMIM:616113
Cornelia De Lange Syndrome 5	Highly arched eyebrow, Toe syndactyly, Hirsutism, Short stature, Ptosis, Low anterior hairline, T...	OMIM:300882
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Macroscopic hematuria, Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulo...	ORPHA:567546
Olmsted Syndrome, X-Linked	Posterior blepharitis, Alopecia totalis, Blepharitis	OMIM:300918
Sweet Syndrome	Dilated cardiomyopathy, Increased circulating interleukin 6, Inflammation of the large intestine,...	ORPHA:3243
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Slow-growing hair, Sparse eyelashes, Blepharitis, Sparse body hair	OMIM:618535
Rift Valley Fever	Infectious encephalitis, Hematuria, Hepatitis, Increased circulating IgG level, Melena, Uveitis, ...	ORPHA:319251
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness	Recurrent bronchitis, Chronic sinusitis, Recurrent Haemophilus influenzae infections, Otitis medi...	OMIM:300455
Lymphoid Interstitial Pneumonia	Wheezing, Hypoxemia, Autoimmunity, Eczema, Keratoconjunctivitis sicca, Crackles, Bronchiectasis, ...	ORPHA:79128
46,Xy Sex Reversal 7	Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian...	OMIM:233420
Netherton Syndrome	Eczema, Hydronephrosis, Erythroderma, Decreased circulating antibody level, Recurrent infections,...	ORPHA:634
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Recurrent bacterial infections, Psoriasiform dermatitis, Neonatal respiratory distress, Decreased...	ORPHA:221139
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, Mildly elevated creatin...	ORPHA:171442
Agammaglobulinemia, X-Linked	Sinusitis, Enteroviral hepatitis, Agammaglobulinemia, Infectious encephalitis, Pyoderma, Pneumoni...	OMIM:300755
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormality of epiphysis morphology, Rhizomelia, Bowing of the long bones, Abnormal ...	ORPHA:93267
Specific Granule Deficiency 1	Recurrent bacterial infections, Impaired neutrophil bactericidal activity	OMIM:245480
Riddle Syndrome	Telangiectasia, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Conj...	ORPHA:420741
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Superior rib anomalies, Hypergonadotropic hypogonadism	OMIM:307500
Juberg-Hayward Syndrome	Hypospadias, Highly arched eyebrow, Toe syndactyly, Intrauterine growth retardation, Abnormality ...	ORPHA:2319
Inflammatory Skin And Bowel Disease, Neonatal, 1	Failure to thrive, Blepharitis, Erythroderma, Pustule	OMIM:614328
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Recurrent viral infections, Coloni...	OMIM:618999
Actinic Prurigo	Cheilitis, Glomerulonephritis, Pyoderma	OMIM:174770
Antithrombin Iii Deficiency	Pulmonary embolism, Arterial occlusion	OMIM:613118
Atopic Keratoconjunctivitis	Keratoconjunctivitis sicca, Keratitis, Abnormal eyelid morphology, Chemosis, Corneal opacity, Los...	ORPHA:163934
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Sepsis, Chronic pulmonary obstruction, Severe varicella zoster infection, Partial absence of spec...	OMIM:618986
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Immunodeficiency 56	Recurrent infection of the gastrointestinal tract, Cholangitis, Bronchiectasis, Recurrent otitis ...	OMIM:615207
Felty Syndrome	Sinusitis, Autoimmunity, Sepsis, Pericarditis, Episcleritis, Synovitis, Abnormal joint morphology...	ORPHA:47612
Warburg Micro Syndrome 3	Hypoplastic labia minora, Microcornea, Developmental cataract, Hypertrichosis, Shallow anterior c...	OMIM:614222
Immunodeficiency 84	Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia	OMIM:619437
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Right ventricular failure, Paroxysmal dyspnea, Myocarditis, Autoimmunity,...	ORPHA:563
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/hypoplasia of the humerus, Omphalocele, Abnormality of femur morphology, Abnormal morphol...	ORPHA:2141
Lymphatic Filariasis	Wheezing, Ankle swelling, Nephrotic syndrome, Lymphadenitis, Knee osteoarthritis, Epididymitis, H...	ORPHA:2035
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Intrauterine growth retardation, Disproportionate short-limb short stature, Ambiguous genitalia, ...	ORPHA:2772
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Bronchiectasis, Decreased circulating antibody level, Chroni...	OMIM:618108
Systemic Mastocytosis With Associated Hematologic Neoplasm	Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Normochromic anemia, C...	ORPHA:98849
Immunodeficiency 49	Eosinophilia, Hirsutism, Lymphopenia	OMIM:617237
Systemic Lupus Erythematosus 16	Nephritis, Systemic lupus erythematosus	OMIM:614420
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgA level, Joint hypermobility, Decreased circulating IgG level, Decreased ...	OMIM:617062
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:613796
Partial Androgen Insensitivity Syndrome	Hypospadias, Abnormality of secondary sexual hair, Male sexual dysfunction, Aplasia of the uterus...	ORPHA:90797
Igg4-Related Thyroid Disease	Anti-thyroid peroxidase antibody positivity, Autoimmunity, Increased circulating IgG4 level, Thyr...	ORPHA:64744
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra...	OMIM:614376
Vici Syndrome	Dilated cardiomyopathy, Recurrent bacterial infections, Recurrent fungal infections, Cutaneous an...	OMIM:242840
Xq28 (MECP2) duplication	Decreased circulating IgA level, Functional abnormality of the bladder, Recurrent respiratory inf...	DECIPHER:45
Aspergillosis	Sinusitis, Hepatitis, Unusual CNS infection, Chronic pulmonary obstruction, Infectious encephalit...	ORPHA:1163
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:613370
Idiopathic Bronchiectasis	Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red...	ORPHA:60033
Femoral-Facial Syndrome	Rib fusion, Long penis, Short stature, Upslanted palpebral fissure, Coxa vara, Sprengel anomaly, ...	ORPHA:1988
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Lichen Planus Pemphigoides	Blepharitis, Conjunctivitis	ORPHA:254478
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Short stature	ORPHA:2435
Dystrophic Epidermolysis Bullosa Pruriginosa	Abnormality of the wrist, Increased circulating IgE level, Abnormality of the elbow	ORPHA:89843
Dyskeratosis Congenita, X-Linked	Hypospadias, Sparse eyelashes, Intrauterine growth retardation, Short stature, Urethral stenosis,...	OMIM:305000
Preeclampsia	Hypertension, Autoimmunity, Elevated diastolic blood pressure, Helicobacter pylori infection, Ele...	ORPHA:275555
Three M Syndrome 1	Hypospadias, Pectus excavatum, Intrauterine growth retardation, Growth delay, Short stature, Smal...	OMIM:273750
Alopecia Areata 1	Autoimmunity	OMIM:104000
Yellow Fever	Shock, Increased circulating interleukin 6, Reduced ejection fraction, Elevated circulating creat...	ORPHA:99829
Netherton Syndrome	Allergic rhinitis, Erythroderma, Decreased circulating IgG level, Recurrent infections, Increased...	OMIM:256500
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Mucopolysacchariduria, Generalized bone demineralization, Nephrotic syndrome, Decreased circulati...	OMIM:215250
Secondary Intestinal Lymphangiectasia	Right ventricular failure, Constrictive pericarditis, Decreased prealbumin level, Autoimmunity, D...	ORPHA:90363
Igg4-Related Submandibular Gland Disease	Autoimmunity, Cholangitis, Prostatitis, Increased circulating IgG4 level, Increased circulating I...	ORPHA:449432
Acquired Partial Lipodystrophy	Autoimmunity, Microscopic hematuria, Decreased serum complement C3, Glomerulopathy, Proteinuria	ORPHA:79087
Autosomal Dominant Severe Congenital Neutropenia	Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop...	ORPHA:486
Galloway-Mowat Syndrome 2, X-Linked	Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidn...	OMIM:301006
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure, Pulmonary embolism, Joint st...	ORPHA:1345
Isolated Agammaglobulinemia	Sinusitis, Autoimmunity, Sepsis, Pneumonia, Recurrent cutaneous abscess formation, Arthritis, Men...	ORPHA:229717
Leukocyte Adhesion Deficiency	Sinusitis, Sepsis, Recurrent aphthous stomatitis, Hemolytic-uremic syndrome, Recurrent staphyloco...	ORPHA:2968
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Hypoxemia, Autoimmunity, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasi...	ORPHA:1303
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis

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