Gene Summary

Name:
ASH1 like histone lysine methyltransferase
Synonyms:
E430018P19Rik,  chromatin remodeling factor,  KMT2H,  8030453L17Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
increased heart weight Ash1ltm2b(EUCOMM)Hmgu HET Early adult 9.53×10-10
increased grip strength Ash1ltm2b(EUCOMM)Hmgu HET   Early adult 4.51×10-05
increased basophil cell number Ash1ltm2b(EUCOMM)Hmgu HET Early adult 1.34×10-20
increased fasting circulating glucose level Ash1ltm2b(EUCOMM)Hmgu HET   Early adult 8.35×10-05
preweaning lethality, complete penetrance Ash1ltm2b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal coat appearance Ash1ltm2b(EUCOMM)Hmgu HET Early adult 1.69×10-06
increased eosinophil cell number Ash1ltm2b(EUCOMM)Hmgu HET Early adult 6.46×10-18
impaired pupillary reflex Ash1ltm2b(EUCOMM)Hmgu HET Early adult 7.37×10-12

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Viewing: all phenotypes

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Dominant 52
Astigmatism, Cervical C2/C3 vertebral fusion, Pectus carinatum, Scapular winging, Bilateral crypt... OMIM:617796

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Antinuclear antibody p... OMIM:613495
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent candida infections, Anti-smooth muscle antibody positivity... OMIM:610163
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent otitis media, Recurrent oral herpes, Recurrent lower respi... OMIM:619220
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... OMIM:608106
C1Q Deficiency 1
Decreased circulating complement factor I concentration, Recurrent infections, Systemic lupus ery... OMIM:613652
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Complement Component 3 Deficiency, Autosomal Recessive
Decreased circulating complement C3 concentration, Recurrent tonsillitis, Nephrotic syndrome, Rec... OMIM:613779
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Recurrent lower respiratory tract in... OMIM:618534
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Podocyte foot ... OMIM:617006
Immunodeficiency, Common Variable, 6
Enlarged kidney, Recurrent respiratory infections, Complete or near-complete absence of specific ... OMIM:613496
Systemic Lupus Erythematosus 16
Decreased circulating complement C3 concentration, Lupus nephritis, Anti-dsDNA antibody positivit... OMIM:614420
Immunoglobulin A Deficiency 1
Recurrent infections, Recurrent infection of the gastrointestinal tract, Autoimmunity, Recurrent ... OMIM:137100
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Increased circulating antibody level, Glomerulonephritis OMIM:247800
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Acute kidney injury, C3 nephritic factor posit... ORPHA:329918
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Increased circulating IgG level, Increased... OMIM:618048
Histiocytosis, Familial Lipochrome
Recurrent infections, Increased alpha-globulin, Increased circulating antibody level, Polyarticul... OMIM:235900
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM, Pneumocystis jirovecii pneumoni... OMIM:300636
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, BCGitis, Impaired oxidative burst OMIM:619549
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Anti-smooth muscle antibody positi... OMIM:601859
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre... OMIM:300310
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract,... OMIM:609529
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Recurrent sinusitis, Stage 5 chronic kidney disease, Antinu... OMIM:615559
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Recurrent otitis media, Abnormal immunoglobulin level, Recurrent bacterial infections... ORPHA:98813
Activated Pi3K-Delta Syndrome
Severe cytomegalovirus infection, Recurrent otitis media, Severe Epstein Barr virus infection, Re... ORPHA:397596
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Primary Membranoproliferative Glomerulonephritis
Decreased circulating complement C3 concentration, Acute kidney injury, C3 nephritic factor posit... ORPHA:54370
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent ear infections, Decreased specific pneumococcal antibody level, Increased circulating I... OMIM:615513
Immunodeficiency 24
Defective T cell proliferation, Partial absence of specific antibody response to tetanus vaccine,... OMIM:615897
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Hematuria, Glomerulonephritis OMIM:314000
Immunodeficiency 10
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Sepsis, Recurrent otitis media, Re... OMIM:612783
Idiopathic Non-Lupus Full-House Nephropathy
Decreased circulating complement C3 concentration, Acute kidney injury, Glomerular C3 deposition,... ORPHA:567544
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Anti-... OMIM:603909
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Increased circulating antibody level, Abnormal circul... ORPHA:48435
Immunodeficiency 95
Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections, Recurrent v... OMIM:619773
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Skin rash, Decreased circulating IgG lev... ORPHA:275
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating interleukin 6 concentration, Increased circulating ... OMIM:618944
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Chronic decreased circulating total IgG, Conjunctivitis, Recurrent sinusi... OMIM:613493
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulati... OMIM:613502
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent bacterial infections, Partial absence of specific antibody resp... OMIM:240500
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent pneumonia, Decreased circulat... OMIM:613500
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Seconda... ORPHA:755
Complement Component C1R/C1S Deficiency
Arthritis, Discoid lupus rash, Recurrent bronchitis, Reduced circulating complement concentration... OMIM:216950
Eosinophilia, Familial
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Thrombocytopenia, Eosinophilia OMIM:131400
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec... OMIM:308220
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Persistent CMV viremia, Increased circulatin... OMIM:618495
Sting-Associated Vasculopathy, Infantile-Onset
Elevated circulating C-reactive protein concentration, Antiphospholipid antibody positivity, Incr... OMIM:615934
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Increased circulating IgG level, Herpes simplex encephalitis, Increased c... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Complement Component 6 Deficiency
Recurrent meningococcal disease, Reduced circulating CH50 activity, Decreased circulating complem... OMIM:612446
Complement Factor I Deficiency
Decreased circulating complement C3 concentration, Recurrent otitis media, Decreased circulating ... OMIM:610984
Immunodeficiency 62
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:618459
Complement Component 4A Deficiency
Vasculitis, Reduced circulating CH50 activity, Systemic lupus erythematosus, Decreased circulatin... OMIM:614380
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent candida infections, Neonatal sepsis, Increased circulating antibody level, Recurrent lo... ORPHA:169154
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Decreased circulating IgG level, Recurrent pneumoni... OMIM:612692
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Recurrent infectio... OMIM:614699
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Allergic rhinitis, Increased ... OMIM:243700
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... ORPHA:209004
C1Q Deficiency 3
Decreased circulating C1q concentration, Discoid lupus rash, Antinuclear antibody positivity, Rec... OMIM:620322
Complement Component 7 Deficiency
Recurrent meningococcal disease, Decreased circulating complement C7 concentration, Recurrent Nei... OMIM:610102
Complement Component 8 Deficiency, Type I
Meningitis, Decreased circulating complement C8 concentration, Systemic lupus erythematosus OMIM:613790
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Persistent CMV viremia, Persistent EBV viremia, Dec... OMIM:616005
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Chilblain Lupus
Increased circulating antibody level, Antiphospholipid antibody positivity, Malar rash, Skin rash... ORPHA:90280
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Anti-smooth muscle antibody positivity, Increased circulating antibo... ORPHA:2137
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Absent isohemagglutinin level, Recurrent lower respiratory tract infectio... OMIM:613501
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Hypertension, Pericarditis, Abnormality of the kidney, Vasculitis, M... ORPHA:91139
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Corneal neovascularization, Elevated circulating C-reactive protein ... OMIM:617388
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Recurrent infection of the g... OMIM:608184
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Complete or near-complete absence of specific antibody... OMIM:607271
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia OMIM:267900
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Recurrent res... OMIM:620565
Immunodeficiency 88
Eosinophilia OMIM:619630
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, Sclerosing cholangitis, Ski... ORPHA:572
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Recurrent bronchiti... OMIM:607594
Immunodeficiency 27A
Increased circulating IgG level, Salmonella osteomyelitis, Rheumatoid factor positive, Increased ... OMIM:209950
Satoyoshi Syndrome
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormality of the wrist, Sparse or ab... ORPHA:3130
Complement Factor D Deficiency
Partial functional complement factor D deficiency, Recurrent bacterial infections OMIM:613912
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Recurrent otitis media, Increased circulating IgE level, Lack of T cell ... ORPHA:277
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali... ORPHA:261529
Pgm3-Cdg
Chronic otitis media, Reduced antigen-specific T cell proliferation, Bone marrow hypocellularity,... ORPHA:443811
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Decreased circulating IgE, Skin rash, Recurrent bacterial meningitis, D... OMIM:300400
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Decreased... OMIM:619707
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Recurrent infections, Increased circulating IgM level, Helicobacte... ORPHA:2688
Immunodeficiency, Common Variable, 10
Recurrent otitis media, Recurrent oral herpes, Recurrent viral upper respiratory tract infections... OMIM:615577
Insulin Autoimmune Syndrome
Increased circulating antibody level, Arthralgia/arthritis, Autoimmune antibody positivity, Syste... ORPHA:411593
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Persistent EBV viremia, Increased circulating IgG lev... OMIM:615816
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Immunodeficiency 115 With Autoinflammation
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Ele... OMIM:620632
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,... ORPHA:319552
Cernunnos-Xlf Deficiency
Autoimmunity, Recurrent viral infections, Decreased circulating antibody level, Recurrent bacteri... ORPHA:169079
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Complement Component 8 Deficiency, Type Ii
Meningitis, Decreased circulating complement C8 concentration, Recurrent Neisserial infections OMIM:613789
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Cubitus valgus, Frontal balding, Facial hirsutism, Abnormal vagina morpho... ORPHA:247768
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Severe Epstein Barr virus infection, Recurrent pharyngitis, Elevated circul... OMIM:308240
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, BCGosis, Chronic mucocutaneous candidiasis... OMIM:620449
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Arthritis, Crescentic glomerulonephritis, ... OMIM:616414
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent meningococcal ... OMIM:614372
Lipodystrophy, Partial, Acquired, Susceptibility To
Decreased circulating complement C3 concentration, Abnormal circulating lipid concentration, Hema... OMIM:608709
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Dysgammaglobulinemia, Recurrent bacterial infections, Increased... OMIM:300291
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Recurrent respiratory infections, Abnorma... OMIM:615615
Complement Factor H Deficiency
Hematuria, Glomerular subendothelial electron-dense deposits, Depletion of components of the alte... OMIM:609814
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Pustule, Autoimmune ant... ORPHA:555905
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Recurrent tons... ORPHA:183675
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 102
Sepsis, Increased circulating interleukin 6 concentration, Recurrent lower respiratory tract infe... OMIM:301082
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Immunodeficiency 44
Abnormal circulating IgG level, Severe viral infection, Post-vaccination measles, Decreased circu... OMIM:616636
Selective Igm Deficiency
Crohn's disease, Recurrent vulvovaginal candidiasis, Decreased specific antibody response to vacc... ORPHA:331235
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr... OMIM:620430
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgA level, Decreased... OMIM:616452
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Reduced circulating complement concentration, Systemic l... OMIM:613791
Schnitzler Syndrome
Increased bone mineral density, Arthritis, Vasculitis, Skin rash, Increased circulating IgM level ORPHA:37748
17Q23.1Q23.2 Microdeletion Syndrome
Chronic otitis media, Clinodactyly of the 5th finger, Patellar hypoplasia, Sandal gap, Highly arc... ORPHA:261279
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Sepsis, Abnormal immunoglobulin level, Recurrent opportunistic infectio... ORPHA:276
Heparin-Induced Thrombocytopenia
Cerebral ischemia, Autoimmune thrombocytopenia, Pulmonary embolism, Increased inflammatory respon... ORPHA:3325
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Decreased circulating complement C3 concentration, Hematuria, Recurrent infections, Nephrotic syn... OMIM:613913
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Reduced antigen-specific T cel... OMIM:617241
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Crohn's diseas... OMIM:616100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Arthritis, Increased circulating IgE level, Eczematoid dermatitis, Anti-glutamic acid decarboxyla... OMIM:304790
Immunodeficiency 52
Defective T cell proliferation, Persistent CMV viremia, Recurrent infections, Persistent EBV vire... OMIM:617514
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Bone marrow hypocellularity, Recurrent aphthous stomatitis,... ORPHA:3261
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency 50
Recurrent urinary tract infections, Recurrent respiratory infections, Decreased circulating antib... OMIM:300988
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hirsutism, Hypergonadotro... OMIM:300510
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
C1Q Deficiency 2
Sepsis, Recurrent otitis media, Pneumocystis carinii pneumonia, Recurrent lower respiratory tract... OMIM:620321
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Igg4-Related Aortitis
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr... ORPHA:449400
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Panhypogammaglobulinemia, Recurrent lower respiratory tract infections, Recurrent ur... OMIM:209920
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal blood ion concentration, Psoriasiform dermatitis, Hypocalcemia, Thyroiditis, Pneumonia, ... ORPHA:37042
Immunodeficiency 11B With Atopic Dermatitis
Severe cytomegalovirus infection, Pneumonia, Increased circulating IgE level, Atopic dermatitis, ... OMIM:617638
Immunodeficiency 96
Defective T cell proliferation, Recurrent otitis media, Recurrent lower respiratory tract infecti... OMIM:619774
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Increased ci... ORPHA:169160
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Recurrent bacterial infections, Skin rash, Decreased circulating ant... ORPHA:331206
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgE, Crohn's disease, Perinuclear antineutrophil antibody positivity, Decre... OMIM:618394
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Absent pubic hair, Sec... OMIM:612964
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Anti-dsDNA antibody positivity, Autoimmune anti... ORPHA:90283
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Recurrent infections, Increased circulating IgE... OMIM:618282
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Psoriasiform dermatitis, Thyroiditis, Decreased circulating anti... ORPHA:436159
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent candida infections, Recurrent infections, Decreased circulating antibody level, Decreas... OMIM:614069
Immunodeficiency, Common Variable, 14
Decreased specific antibody response to vaccination, Decreased circulating IgG level, Recurrent s... OMIM:617765
Immunodeficiency 14B, Autosomal Recessive
Polyarticular arthritis, Decreased circulating IgG level, Inflammation of the large intestine, Re... OMIM:619281
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Hypocystinemia, Decreased circulating antibody leve... OMIM:617744
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Recurrent respiratory infections, Anti-U1 ribonucleoprotein antibody positivity, Anti-dsDNA antib... OMIM:619375
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Decreased circulating antibody level, Recurrent fungal infections, Re... OMIM:616873
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Zika Virus Disease
Ankle swelling, Wrist swelling, Myelitis, Arthritis, Skin rash, Increased circulating IgM level, ... ORPHA:448237
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Arthritis, Increased circulating IgA ... ORPHA:343
Thymoma
Myositis, Decreased circulating antibody level, Abnormal lymphocyte physiology, Rheumatoid arthri... ORPHA:99867
Immunodeficiency 22
Chronic oral candidiasis, Panniculitis, Decreased circulating IgE, Recurrent lower respiratory tr... OMIM:615758
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormal rib morphology, Syn... ORPHA:3268
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Elevated circulating C-reactiv... ORPHA:85435
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia, Recurrent lower respiratory tract infections, Persistent EBV viremia, Compl... OMIM:620282
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Elevated circulating C-reactive protein concentration, Vasculitis, Increased circul... OMIM:617099
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Recurrent Staphylococcus aureus infections, Sinusitis, Opportunistic infect... ORPHA:83471
Panniculitis-Induced Localized Lipodystrophy
Vasculitis in the skin, Inflammatory abnormality of the skin, Antinuclear antibody positivity, Ab... ORPHA:90159
Persistent Polyclonal B-Cell Lymphocytosis
Recurrent infections, Decreased circulating total IgM OMIM:606445
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Furuncle, Recurrent sinusi... OMIM:618969
Immunodeficiency 43
Hypoproteinemia, Bronchiectasis, Decreased circulating IgG level, Abnormal circulating IgA level,... OMIM:241600
Limb-Mammary Syndrome
Clinodactyly of the 5th finger, Chronic irritative conjunctivitis, Breast aplasia, Alopecia, Lacr... ORPHA:69085
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Deep dermatophytosis, Increased circulating IgE level, Chronic tinea in... OMIM:212050
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Recurrent otitis media, Post-vaccination polio OMIM:616941
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... OMIM:600705
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Recurrent respiratory infections, Recurrent infections, Dec... OMIM:614470
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Elevated... ORPHA:449395
Wiskott-Aldrich Syndrome
Hematemesis, Small vessel vasculitis, Recurrent sinusitis, Epistaxis, Recurrent meningitis, Infla... OMIM:301000
Immunodeficiency, Common Variable, 11
Crohn's disease, Increased circulating IgE level, Decreased circulating IgG level, Inflammation o... OMIM:615767
Systemic Lupus Erythematosus
Antiphospholipid antibody positivity, Malar rash, Arthritis, Pericarditis, Nephritis, Antinuclear... OMIM:152700
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Abnormal rib morphology, Short stature, Sprengel anomaly, Hypopla... OMIM:601076
Boutonneuse Fever
Increased circulating IgG level, Vasculitis, Skin rash, Increased circulating IgM level, Renal in... ORPHA:83313
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Seckel Syndrome 7
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal... OMIM:614851
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Breast hypoplasia, Hypoplasia of the uterus, Male hypog... ORPHA:432
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Anti-smooth muscle antibody positivity, Sclerosing cholangitis, Anti-liver cytosolic antigen type... ORPHA:562639
Hyper-Igd Syndrome
Chronic oral candidiasis, Recurrent infections, Arthritis, Increased circulating IgA level, Skin ... OMIM:260920
Primary Biliary Cholangitis
Gastrointestinal inflammation, Abnormal circulating lipid concentration, Hypercholesterolemia, Or... ORPHA:186
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent candida infections, Increased circulating IgE level, Recurrent ba... ORPHA:217390
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Decreased circulating antibody level, Decreased circ... ORPHA:859
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent aphthous stomatitis, Recurrent lower respirat... OMIM:615468
Combined Immunodeficiency, X-Linked
Pneumocystis carinii pneumonia, Recurrent bronchitis, Sinusitis, Decreased circulating IgG level,... OMIM:312863
Premature Ovarian Failure 13
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... OMIM:617442
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd... OMIM:617609
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgE, Recurrent infections, Partial absence of specific antibody response to... OMIM:619824
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Increased circulating guanosine concentration, Decreased lymphocyte proliferation in r... OMIM:613179
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Angiostrongyliasis
Stiff neck, Increased circulating IgG level, Increased circulating IgA level, Increased circulati... ORPHA:74
Acute Lung Injury
Abnormal circulating cytokine concentration, Sepsis, Increased circulating interleukin 6 concentr... ORPHA:178320
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Ectropion, Dystrophic fingernails, Nail dystrophy, Scarring alopecia of scalp, Corneal dystrophy,... OMIM:308800
Acute Zonal Occult Outer Retinopathy
Vitritis, Marcus Gunn pupil, Pigmentary retinopathy, Abnormal fundus fluorescein angiography, Mac... ORPHA:284454
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun... OMIM:601457
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Osteoporosis, Atopic dermatitis, Eosinophilic infiltration of th... OMIM:620532
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Clouston Syndrome
Nail dystrophy, Brittle hair, Absent pubic hair, Slow-growing hair, Cataract, Absent axillary hai... OMIM:129500
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Arthropathy, Eczematoid dermatitis, Kera... OMIM:618523
Moebius Syndrome
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Breast aplasi... ORPHA:570
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Absent pubic hair, Hypoplasia of the ovary, Decreased testicular size, Micropeni... OMIM:614841
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Elevated circulating C-r... ORPHA:158061
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Nail dystrophy, Scarring alopecia of scalp, Folliculitis, Sparse eyelashes, Blepharitis, Sparse e... OMIM:612843
Nephrotic Syndrome, Type 10
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo... OMIM:615861
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Recurrent infections, Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis OMIM:618985
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nail dystrophy, Vaginal dryness, Hypospadias, Supernumerary nipple, Absent eyelashes, Lacrimal du... OMIM:106260
Ovarian Dysgenesis 5
Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute... OMIM:617690
Subcorneal Pustular Dermatosis
Increased circulating antibody level, Rheumatoid arthritis, Pustule, Systemic lupus erythematosus... ORPHA:48377
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, Persistent EBV viremia, Eczematoid dermatitis, Decreased circulating I... OMIM:619510
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Recurrent respiratory infections, Decreased circulating total IgM OMIM:618987
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Chronic mucocutaneous candidiasis, Cutaneous abscess, Atopic der... OMIM:619752
Ovarian Dysgenesis 6
Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Immunodeficiency 67
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:607676
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Recurrent uri... OMIM:307200
Catastrophic Antiphospholipid Syndrome
Abnormal circulating cytokine concentration, Myocarditis, Myocardial infarction, Abnormality of t... ORPHA:464343
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Increased circulating gonadotropin level, Telecanthus, Highly ar... OMIM:110100
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Reduced bone mineral density, Joint dislocation, Recurrent urinary tract infections, Joint stiffn... OMIM:620210
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619665
Perrault Syndrome 4
Premature ovarian insufficiency, Cubitus valgus, Hypoplasia of the ovary, Secondary amenorrhea, B... OMIM:615300
Schimke Immuno-Osseous Dysplasia
Abnormal lymphocyte physiology, Hyperlipidemia, Hypertension, Cerebral ischemia, Bone marrow hypo... ORPHA:1830
Loeffler Endocarditis
Left atrial enlargement, Endocardial fibrosis, Abnormal morphology of the chordae tendinae of the... ORPHA:75566
Ige Responsiveness, Atopic
Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis OMIM:147050
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Delayed puberty, Proximal placement of thumb, Hypoplasia of peni... ORPHA:199
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased circulating IgG level, I... ORPHA:2298
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Short stature, Elevated circulating follicle stimulating hormone ... OMIM:614129
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility ORPHA:488191
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypoplasia of penis, Abnormal rib morphology, Decreased testicular size, Abnormality of the humer... ORPHA:2234
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis OMIM:619693
Erythema Elevatum Diutinum
Vasculitis in the skin, Skin rash, Increased circulating antibody level ORPHA:90000
Lassa Fever
Sepsis, Increased circulating IgM level, Conjunctivitis, Oliguria, Shock ORPHA:99824
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus, Abnormality of complement system OMIM:613783
Immunodeficiency 38 With Basal Ganglia Calcification
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:616126
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Delayed puberty, Short stature, Blepharitis, Failure to thrive, Developmental cataract, Psoriasif... OMIM:616834
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant... OMIM:606367
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Hypertriglyceridemia, Acute kidney injury, Minimal chan... ORPHA:567548
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Increased circulating... ORPHA:470
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Kid Syndrome
Nail dystrophy, Corneal neovascularization, Delayed pubic bone ossification, Corneal erosion, Apl... ORPHA:477
Complement Factor B Deficiency
Recurrent meningococcal disease, Decreased circulating complement factor B concentration, Periton... OMIM:615561
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Patchy alopecia, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Recurrent sinusitis, Erythema nodosum, Thyro... OMIM:614700
Papa Syndrome
Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Limitation of joint m... ORPHA:69126
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections OMIM:233650
Adult Acute Respiratory Distress Syndrome
Sepsis, Pancreatitis, Increased circulating interleukin 6 concentration, Vasculitis, Hypotension,... ORPHA:70578
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren... OMIM:616576
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Bronchiolitis, Enterocolitis, Recurrent sinopulmonary infections, Decre... OMIM:614878
Bacterial Toxic-Shock Syndrome
Skin rash, Severe varicella zoster infection, Sinusitis, Elevated circulating creatinine concentr... ORPHA:36234
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent infections, Erythema nodosu... OMIM:615214
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Primary amenorrhea, Cryptorchid... OMIM:614837
Vernal Keratoconjunctivitis
Scarring, Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punc... ORPHA:70476
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level, Eczematoid dermatitis, Joint he... OMIM:313900
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Sepsis, Enlarged kidney, Hypertrophic cardiomyopathy, Recurrent broncho... OMIM:617303
Multiple Myeloma
Osteopenia, Acute kidney injury, Increased circulating IgG level, Abnormality of the bladder, Inc... ORPHA:29073
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle OMIM:619011
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Recurrent bacterial infections, Increased circulating IgE level, Ski... OMIM:102700
Premature Ovarian Failure 18
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Elevated circulat... OMIM:619203
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent opportunistic infections, Stomat... ORPHA:911
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hyperhomocystinemia, Recurrent infections, Decreased circulating antibody level, Eczematoid derma... OMIM:617780
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Corneal opacity, Curly hair, Sparse eyelashes, Blepharitis, Sparse... OMIM:602400
Immunodeficiency 32B
Hepatomegaly, Anemia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, Monocytopenia, ... OMIM:226990
Immunodeficiency 105
Skin rash, Decreased circulating antibody level, Decreased circulating IgG level, Decreased circu... OMIM:619924
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Arthritis, Knee osteoarthritis, Uveitis, Ab... ORPHA:85410
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Renal tubular epithelial necrosis, Hypertension... ORPHA:49041
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Low posterior hairline, Abnormal rib morphology, Aplasia/hypoplas... ORPHA:2578
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Hypertension, Pustule, Recurrent pneumonia, Recurrent bronchiolitis OMIM:616069
Agammaglobulinemia, X-Linked
Decreased circulating IgE, Recurrent sinusitis, Pyoderma, Enteroviral hepatitis, Recurrent pneumo... OMIM:300755
Xeroderma Pigmentosum
Ectropion, Entropion, Pterygium, Alopecia, Decreased testicular size, Blepharitis, Conjunctival t... ORPHA:910
Amed Syndrome, Digenic
Telecanthus, Short stature, Failure to thrive, Hypoplasia of the uterus, Long thumb OMIM:619151
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Recurrent bac... OMIM:601495
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Kimura Disease
Eosinophilia ORPHA:482
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Immunodeficiency 92
Recurrent oral herpes, Abnormal B cell proliferation, Cholangitis, Sclerosing cholangitis, Persis... OMIM:619652
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Recurrent lower respiratory tract infections, Elevated circulating C-r... OMIM:619644
Nephrotic Syndrome, Type 6
Minimal change glomerulonephritis, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosi... OMIM:614196
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Mosaic Trisomy 14
Hypospadias, Narrow chest, Hypoplasia of penis, Abnormal rib morphology, Ptosis, Camptodactyly of... ORPHA:1703
Immunodeficiency 15B
Chronic oral candidiasis, Recurrent infections, Decreased circulating antibody level, Agammaglobu... OMIM:615592
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Idiopathic Pulmonary Hemosiderosis
Anti-smooth muscle antibody positivity, Rheumatoid factor positive, Autoimmune antibody positivit... ORPHA:99931
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Ambiguous genitalia, male, Abnormal sex determination, Elevated circulating lute... ORPHA:90796
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Sepsis, Recurrent aphthous stomatitis, Recurrent lower respiratory t... OMIM:614868
X-Linked Immunoneurologic Disorder
Functional abnormality of the bladder, Recurrent respiratory infections, Decreased circulating Ig... ORPHA:2571
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Bronchiectasis, Sinusitis, Increased circulating IgM level, Pneumonia, Decreased circulating IgA ... OMIM:242860
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Hyperprolactinemia
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility OMIM:615555
Trichothiodystrophy 3, Photosensitive
Recurrent infections, Increased circulating IgA level OMIM:616395
Familial Hemophagocytic Lymphohistiocytosis
Abnormal circulating cytokine concentration, Hypertriglyceridemia, Increased circulating interleu... ORPHA:540
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:300861
Cinca Syndrome
Anemia, Leukocytosis, Papilledema, Hepatosplenomegaly, Eosinophilia OMIM:607115
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Eec Syndrome
Nail dystrophy, Proximal placement of thumb, Corneal erosion, Inflammatory abnormality of the eye... ORPHA:1896
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Persistent EB... OMIM:613011
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Enlarged kidney, Increased circulating antibody level OMIM:615285
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Infectious encephalitis, Colitis OMIM:616098
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Recurrent respiratory infections, Absent circulating immunoglobulin kappa c... OMIM:614102
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Split foot, Sparse axillary hair, Sparse hair, Transverse vaginal septum, Decreased response to g... OMIM:129900
Dyskeratosis Congenita
Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Periodontitis, Abnormal eyel... ORPHA:1775
Diffuse Alveolar Hemorrhage
Decreased circulating complement C3 concentration, Hematuria, Antiphospholipid antibody positivit... ORPHA:90060
Systemic Lupus Erythematosus 17
Decreased circulating complement C3 concentration, Myelitis, Malar rash, Optic neuritis, Anti-aqu... OMIM:301080
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Nail dystrophy, Split foot, Sparse axillary hair, Transverse vaginal septum, Decreased response t... OMIM:604292
Flotch Syndrome
Inflammatory abnormality of the eye, Abnormal eyelid morphology, Abnormal eyelash morphology, Spa... ORPHA:2045
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Sneddon Syndrome
Ischemic stroke, Antiphospholipid antibody positivity, Hypertension, Cerebral hemorrhage, Decreas... OMIM:182410
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... ORPHA:70593
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Peeling Skin Syndrome 1
Eosinophilia, Nail dystrophy, Brittle hair OMIM:270300
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Limitation of movement at ankles, Limited elbow flexion, Limited... ORPHA:206594
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia, Thin eyebrow OMIM:618092
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Recurrent infections, Decreased circulating antibody level, Folliculitis, I... OMIM:300635
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Glomerulopathy, Hematuria, Joint dislocation, Inflammatory abnormality o... ORPHA:36412
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Thyroiditis, Increased circulating IgA level, Tubulointerstitial nephritis, Increased c... ORPHA:79078
Roifman Syndrome
Hepatomegaly, Retinal dystrophy, Noncompaction cardiomyopathy, Ventricular septal defect, Splenom... OMIM:616651
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Acute kidney injury, Elevated circulating creatinine concentration, Panc... ORPHA:93126
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Cheilitis, Corneal erosion, Oligodactyly, Corneal opacity, Severe short stature, Sparse hair, Ast... ORPHA:2273
Immune Dysregulation, Autoimmunity, And Autoinflammation
Decreased circulating complement C3 concentration, Increased circulating interleukin 6 concentrat... OMIM:620514
Brucellosis
Pericarditis, Intrarenal abscess, Anterior uveitis, Myocarditis, Increased circulating IgG level,... ORPHA:1304
Acrodermatitis Enteropathica
Cheilitis, Corneal erosion, Abnormal eyelid morphology, Short stature, Blepharitis, Pustule, Abno... ORPHA:37
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Ectropion, S-shaped palpebral fissures, Highly arched eyebrow, Elevated circulating luteinizing h... ORPHA:572333
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Abnormality of the wrist, Polyarticular arthritis, Malar rash, Skin rash, Limitation of j... ORPHA:85436
Acute Erythroid Leukemia
Monoclonal immunoglobulin M proteinemia, Bone marrow hypocellularity ORPHA:318
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:616730
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Mu-Heavy Chain Disease
Bence Jones Proteinuria, Increased circulating antibody level, Osteoporosis, Nephropathy, Osteolysis ORPHA:100024
Estrogen Resistance
Delayed puberty, Acne, Breast aplasia, Primary amenorrhea, Polycystic ovaries, Hypoplasia of the ... OMIM:615363
Primary Sjögren Syndrome
Increased circulating antibody level, Optic neuritis, Erythema nodosum, Abnormality of the kidney... ORPHA:289390
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Systemic Sclerosis
Nail bed telangiectasia, Pericarditis, Anti-topoisomerase I antibody positivity, Intestinal bleed... ORPHA:90291
Prolidase Deficiency
Diffuse telangiectasia, Increased circulating antibody level, Recurrent infections, Eczematoid de... OMIM:170100
Poikiloderma With Neutropenia
Nail dystrophy, Recurrent otitis media, Skin rash, Low posterior hairline, Sparse lateral eyebrow... OMIM:604173
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Atopic Keratoconjunctivitis
Corneal neovascularization, Loss of eyelashes, Abnormal eyelid morphology, Corneal opacity, Corne... ORPHA:163934
Wells Syndrome
Eosinophilia ORPHA:901
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Flexion contracture of toe, Increa... OMIM:256040
Cherubism
Marcus Gunn pupil, Macular scar, Optic neuropathy OMIM:118400
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Polyarticular arthriti... OMIM:615952
Immunodeficiency 11A
Pneumocystis jirovecii pneumonia, Decreased circulating antibody level, Agammaglobulinemia, Reduc... OMIM:615206
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Joint stiffness, Bone marrow hypocellularity, Pulmonary arterial hypertension, C... ORPHA:505248
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... OMIM:277000
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle OMIM:619009
X-Linked Agammaglobulinemia
Chronic otitis media, Sepsis, Hypocalcemia, Arthritis, Skin rash, Meningitis, Sinusitis, Recurren... ORPHA:47
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypoplasia of penis, Abnormal hair... ORPHA:3082
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG level ORPHA:2643
Interstitial Cystitis
Elevated circulating C-reactive protein concentration, Abnormality of the bladder, Pollakisuria, ... ORPHA:37202
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Missing ribs, Abnormal rib morphology, Severe short stature, ... ORPHA:1797
Immunodeficiency 9
BCGitis, Recurrent aphthous stomatitis, Stomatitis, Recurrent infections, Decreased circulating I... OMIM:612782
Renal Cysts And Diabetes Syndrome
Hypospadias, Pancreatic hypoplasia, Bicornuate uterus, Atretic vas deferens, Pancreatic atrophy, ... OMIM:137920
Renpenning Syndrome
Abnormal thumb morphology, Iris coloboma, Clinodactyly of the 5th finger, Hypospadias, Cachexia, ... ORPHA:3242
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Decreased circulating antibody level, Recurrent sinopulmonary i... OMIM:616740
Autoinflammatory Disease, Systemic, X-Linked
Panniculitis, Optic neuritis, Complete or near-complete absence of specific antibody response to ... OMIM:301081
46,Xy Sex Reversal 11
Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Elevated circulatin... OMIM:273250
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse scalp hair, Eczematoid dermatitis, Sparse eyelashes, Blepharitis, Spars... OMIM:618535
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Interstitial Lung Disease 2
Increased circulating antibody level, Pulmonary arterial hypertension OMIM:178500
Roifman Syndrome
Retinal dystrophy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia, Prominent eyel... ORPHA:353298
Immunodeficiency 116
Bronchiectasis, Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory... OMIM:608957
Ifap Syndrome 2
Nail dystrophy, Atrichia, Angular cheilitis, Posterior blepharitis, Keratitis, Sparse hair, Catar... OMIM:619016
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ... OMIM:615633
O'Sullivan-Mcleod Syndrome
Eosinophilia, Tremor ORPHA:99965
Chromosome 16Q22 Deletion Syndrome
Postnatal growth retardation, Short palpebral fissure, Hypospadias, Narrow chest, Small for gesta... OMIM:614541
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... ORPHA:48104
Rift Valley Fever
Hematemesis, Hematuria, Melena, Increased circulating IgG level, Skin rash, Retinal hemorrhage, S... ORPHA:319251
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Recurrent aphthous... OMIM:301078
Down Syndrome
Decreased fertility, Delayed puberty, Clinodactyly of the 5th finger, Sandal gap, Keratoconus, Ca... ORPHA:870
Aromatase Deficiency
Male infertility, Genu valgum, Delayed epiphyseal ossification, Macroorchidism, postpubertal, Enl... ORPHA:91
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Sweet Syndrome
Small vessel vasculitis, Increased circulating interleukin 6 concentration, Panniculitis, Elevate... ORPHA:3243
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Autoinflammatory-Pancytopenia Syndrome
Severe Epstein Barr virus infection, Intestinal inflammation, Arthropathy, Chilblains, Proteinuri... OMIM:619858
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Estrogen Resistance Syndrome
Breast hypoplasia, Acne, Delayed epiphyseal ossification, Enlarged polycystic ovaries, Primary am... ORPHA:785
Omenn Syndrome
Hepatomegaly, Anemia, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Aplasia/Hypopla... ORPHA:39041
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Systemic lupus erythematosus, Autoimmunity, ... ORPHA:444463
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed puberty, Short palpebral fissure, Decreased response to growth hormone stimulation test, ... OMIM:615866
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Joint hypermobility, Chronic kidney disease, Glomerulonephritis ORPHA:2172
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent respiratory infections, Recurrent infections, Arthritis, ... ORPHA:33110
10Q22.3Q23.3 Microduplication Syndrome
Chronic otitis media, Abnormal clavicle morphology, Hypospadias, Abnormal rib morphology, Ambiguo... ORPHA:276422
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Skin rash, Lack of T cell function, Partial IgA def... ORPHA:35078
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hypertension, Epistaxi... ORPHA:340
Cornelia De Lange Syndrome 5
Limited elbow extension, Postnatal growth retardation, Clinodactyly of the 5th finger, Proximal p... OMIM:300882
Inclusion Body Myositis
Autoimmunity, Elevated circulating creatine kinase concentration ORPHA:611
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Complement Component 5 Deficiency
Recurrent meningococcal disease, Reduced circulating CH50 activity, Recurrent Neisserial infectio... OMIM:609536
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Crohn's disease, Tricuspid regurgitation, Hypertrophic cardiomyop... OMIM:619705
Inflammatory Pseudotumor Of The Liver
Autoimmune antibody positivity, Increased hepatitis B virus antibody level ORPHA:90003
Coccidioidomycosis
Skin rash, Cerebral ischemia, Pericarditis, Unusual CNS infection, Erythema nodosum, Osteolysis, ... ORPHA:228123
Myeloma, Multiple
Paraproteinemia OMIM:254500
Genetic Steroid-Resistant Nephrotic Syndrome
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ... ORPHA:656
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent viral infections, BCGitis, Recurrent mycobacterium avium c... OMIM:614892
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis, Cardiac shunt OMIM:305800
Omenn Syndrome
Hepatomegaly, Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thro... OMIM:603554
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Decreased circulating IgG2 level OMIM:300076
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level OMIM:611926
Galloway-Mowat Syndrome 7
Cubitus valgus, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid... OMIM:618348
Tularemia
Pneumonia, Increased circulating antibody level, Inflammatory abnormality of the eye, Tachycardia... ORPHA:3392
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Cystic Echinococcosis
Increased circulating antibody level, Hyperbilirubinemia, Invasive parasitic infection, Renal cys... ORPHA:400
Systemic Lupus Erythematosus
Decreased circulating complement C3 concentration, Cheilitis, Hematuria, Lupus nephritis, Anti-U1... ORPHA:536
Olmsted Syndrome, X-Linked
Posterior blepharitis, Blepharitis, Alopecia totalis OMIM:300918
46,Xy Sex Reversal 4
Gonadal dysgenesis, Distal symphalangism, Recurrent otitis media, Hypoplastic labia majora, Upsla... OMIM:154230
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Hypoplasia of the lacrimal punctum, Highly arched eyebrow, Bifid distal phala... OMIM:618419
Tempi Syndrome
Increased circulating IgG level, Abnormality of the kidney, Intracranial hemorrhage, Telangiectasia ORPHA:284227
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Superior rib anomalies, Hypergonadotropic hypogonadism OMIM:307500
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Pustule, Failure to thrive OMIM:614328
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Recurrent lower respiratory tract infections, Increased circulating IgE lev... OMIM:620603
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge... ORPHA:2141
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t... ORPHA:93267
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei... OMIM:301006
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Meckel Syndrome 12
Rocker bottom foot, Antecubital pterygium, Vaginal atresia, Intrauterine growth retardation, Arth... OMIM:616258
Xq28 (MECP2) duplication
Functional abnormality of the bladder, Recurrent respiratory infections, Decreased circulating Ig... DECIPHER:45
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hypertension, Hyperlipidemia, Reduced circulating complement c... ORPHA:567546
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Pancolitis, In... OMIM:618213
Q Fever
Increased circulating antibody level, Pericarditis, Cholecystitis, Myocarditis, Anti-smooth muscl... ORPHA:781
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Recurrent lower respiratory tract infections, Recurrent infections, Decreased circulating antibod... OMIM:226300
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Recurrent sinopulmonary infections, Autoimmune thrombocytopenia, Decreased circulating antibody l... OMIM:619846
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormality of the wrist, Hypospadias, Abnormal metacarpal morphology, ... ORPHA:2319
Yellow Fever