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Gene: Bcl6 MGI:107187

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
B cell leukemia/lymphoma 6
Synonyms:
Bcl5

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Bcl6 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 Bcl6 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur... ORPHA:545

The table below shows human diseases predicted to be associated to Bcl6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia... OMIM:607594
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Chronic oral candidiasis, Recurrent herpes, Eosinophilia, Pneumonia, Recurrent pneum... ORPHA:169160
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Nondisjunction
Decreased fertility OMIM:158250
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio... OMIM:615897
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... OMIM:212050
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... OMIM:618459
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas... OMIM:617638
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent viral infections, Increased circulating IgG level, Disseminated molluscum contagiosum, ... OMIM:243700
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... OMIM:613953
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... OMIM:240500
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... OMIM:608106
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... OMIM:226990
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Acne, Recurrent sk... OMIM:300635
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Increased circulating IgG level, Inflammation of the large intestine, Inc... ORPHA:98813
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Recurrent respiratory infections, Recurrent skin infections, Short sta... OMIM:620210
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... OMIM:618987
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, He... OMIM:616100
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... OMIM:610163
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... OMIM:608184
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I... OMIM:601859
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Short stature, Neutropenia OMIM:610798
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... OMIM:614069
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Roifman Syndrome
Noncompaction cardiomyopathy, Short stature, Eosinophilia, Eczema, Postnatal growth retardation, ... ORPHA:353298
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Short stature, Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulatin... OMIM:615139
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... OMIM:300988
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocu... OMIM:608971
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... OMIM:147060
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... OMIM:242870
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... OMIM:614700
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Severe viral infection, Decreased ci... OMIM:616636
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ... ORPHA:397596
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho... OMIM:603909
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... OMIM:300755
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... ORPHA:563
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... OMIM:102700
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu... ORPHA:183675
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... OMIM:618523
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Short stature, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tra... OMIM:616005
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... ORPHA:572
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Recurrent respiratory infections, Eczema, Oligoarthritis, Persistent EBV viremia, Gr... OMIM:619510
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating ant... OMIM:618261
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo... OMIM:619752
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... OMIM:617765
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Immunodeficiency 96
Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Recurrent infec... OMIM:619774
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Fulminant hepatitis, Lymphocytosis, Neutropenia, Decreased circulating IgG level... OMIM:308240
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Aspergillosis
Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Meningitis, Chro... ORPHA:1163
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec... OMIM:615122
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre... OMIM:619773
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Immunodeficiency 7
Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Recurrent respiratory infect... OMIM:615387
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, De... OMIM:615559
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node g... ORPHA:277
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia, Severe i... OMIM:304790
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Short stature, Recurrent bacterial infections, Neutropenia, Rec... OMIM:616022
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Elevated total serum tryptase, Leuke... ORPHA:157991
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... OMIM:619705
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Short stature, Abnorm... ORPHA:47
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Cystic Echinococcosis
Abnormal peritoneum morphology, Abnormality of the testis size, Elevated gamma-glutamyltransferas... ORPHA:400
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Severe short stature, Decreased circulating total IgM, Neutrope... ORPHA:2643
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Raynaud phenomenon, Myocarditis, ... ORPHA:206569
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Systemic Capillary Leak Syndrome
Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Weight loss, Hypot... ORPHA:188
Roifman Syndrome
Hepatomegaly, Noncompaction cardiomyopathy, Short stature, Eczema, Eosinophilia, Postnatal growth... OMIM:616651
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Sple... OMIM:603554
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Myocarditis, Re... ORPHA:829
Immunodeficiency 56
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis... OMIM:615207
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy OMIM:607685
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Recurrent urinary tr... OMIM:618495
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Meningitis, Recurrent opportunistic infections, T lymphocytopenia, ... OMIM:601457
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... OMIM:615214
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... OMIM:618986
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Short stature, Decreased response to growth hormon... OMIM:307200
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Cardiac arrest, Eosinophilia, Pustule, Myocarditis, Dyspnea, Hepatitis, Erythroderma, ... ORPHA:139402
Immunodeficiency, Common Variable, 10
Recurrent oral herpes, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Decreased r... OMIM:615577
Rheumatic Fever
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morphology, ... ORPHA:3099
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Immunodeficiency 23
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... OMIM:615816
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Eosinophilia, Recurrent viral infections, Asthma,... OMIM:618999
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, G... OMIM:607115
American Trypanosomiasis
Hepatomegaly, Skin rash, Myocarditis, Dyspnea, Congestive heart failure, Splenomegaly, Lymphadeno... ORPHA:3386
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, ... OMIM:613179
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... OMIM:614372
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Legionnaires Disease
Pericarditis, Abnormal pleura morphology, Myocarditis, Abnormal lung morphology, Recurrent pharyn... ORPHA:549
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Complement Component 4B Deficiency
Decreased circulating complement C4b concentration, Chronic active hepatitis, Asthma, Recurrent p... OMIM:614379
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... ORPHA:217390
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Tularemia
Respiratory distress, Abnormal nasopharyngeal adenoid morphology, Conjunctivitis, Otitis media, C... ORPHA:3392
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Immunodeficiency 22
Pericarditis, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Capillary ... OMIM:615758
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... OMIM:247800
Netherton Syndrome
Recurrent respiratory infections, Recurrent skin infections, Eczema, Allergic rhinitis, Asthma, I... OMIM:256500
Q Fever
Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis... ORPHA:781
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... ORPHA:486
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Scrub Typhus
Anterior uveitis, Skin rash, Dyspnea, Myocarditis, Splenomegaly, Lymphadenopathy, Restrictive ven... ORPHA:83317
Peeling Skin Syndrome 1
Short stature, Eosinophilia, Asthma, Increased circulating IgE level, Erythroderma OMIM:270300
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, ... OMIM:613496
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Nonproductive cough, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, ... ORPHA:2902
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... OMIM:615468
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hemolytic anemi... OMIM:606367
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr... OMIM:615592
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Dec... OMIM:619126
Immunodeficiency 88
Asthma, Eosinophilia, BCGosis OMIM:619630
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Cough, Abnormal pericar... ORPHA:183
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Abnormal circulating I... OMIM:618048
Griscelli Syndrome
Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymph... ORPHA:381
Complement Component C1S Deficiency
Abnormality of complement system, Hepatitis, Hashimoto thyroiditis OMIM:613783
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Decreased... OMIM:616740
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Growth delay,... ORPHA:169079
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal spermatogenesis, Azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb... OMIM:614470
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepa... ORPHA:809
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... ORPHA:2137
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Cachexia, Myocardial infarctio... ORPHA:3452
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Short stature, Eczema, Rhizomelia, Decreased circulating antibo... OMIM:618116
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-... OMIM:615767
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al... OMIM:245480
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Juvenile Temporal Arteritis
Allergic rhinitis, Eosinophilia, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia ORPHA:26137
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal... ORPHA:47612
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Immunodeficiency 92
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Cholangitis, Pneumonia, Persistent CMV viremi... OMIM:619652
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased circul... ORPHA:33355
Omenn Syndrome
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Sepsis, Lymphaden... ORPHA:39041
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... ORPHA:2688
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... OMIM:615206
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Abnormal pleura morphology ORPHA:2582
Macrophage Activation Syndrome
Increased inflammatory response, Hepatomegaly, Increased circulating interleukin 6 concentration,... ORPHA:158061
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli... OMIM:617241
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circu... ORPHA:37748
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... OMIM:267500
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent tonsillitis, Recurrent b... OMIM:613779
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Pneumocystis jirovecii pneum... OMIM:301078
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... ORPHA:90045
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th... ORPHA:81
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Growth delay, Ascites, Anemia ORPHA:100025
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... OMIM:618108
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... OMIM:233710
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Bronchitis, Recurrent viral infections,... ORPHA:420741
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Large vessel vasculitis, I... OMIM:301000
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... ORPHA:2686
Brucellosis
Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious ... ORPHA:1304
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Pericardial effusion, Myocarditi... ORPHA:292
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... OMIM:616098
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti... OMIM:233690
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P... ORPHA:31205
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... OMIM:613011
Bloom Syndrome
Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Otitis media, Decreased... ORPHA:125
Complement Component 6 Deficiency
Decreased circulating complement C6 concentration, Reduced hemolytic complement activity, Recurre... OMIM:612446
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... OMIM:601495
Melioidosis
Shock, Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Unusual skin in... ORPHA:31202
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi... ORPHA:79124
Igg4-Related Aortitis
Increased inflammatory response, Increased circulating IgG4 level, Asthma, Increased circulating ... ORPHA:449400
Complement Component 7 Deficiency
Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men... OMIM:610102
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Desquamative int... OMIM:615952
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... OMIM:301045
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurr... OMIM:618254
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myositis, Sinusitis, Fasciitis, Tachypnea, Increased circulating myelocyte ... ORPHA:36234
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Sepsis, Iron deficiency anemia, Tubulointerstitial nephritis, Col... ORPHA:37042
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Morbid Obesity And Spermatogenic Failure
Azoospermia, Infertility, Oligozoospermia OMIM:615703
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections,... OMIM:615285
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... OMIM:614868
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal... OMIM:612444
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ... ORPHA:228123
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Cryptococcal meningitis, Decreased circulating antibody level, ... ORPHA:90362
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... OMIM:619477
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Recurrent abscess ... OMIM:619381
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut... ORPHA:1572
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Nephritis... ORPHA:2552
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L... OMIM:612840
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... ORPHA:464343
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Atelectasis, In... ORPHA:2314
Alveolar Echinococcosis
Liver abscess, Pulmonary cyst, Eosinophilia, Cholangitis, Portal hypertension, Pancreatic cysts, ... ORPHA:284
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Short stature, Recurrent skin infections, Decreased circulating antibody level, Growth delay, Int... OMIM:617744
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... ORPHA:555905
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Eczem... OMIM:617780
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... OMIM:253700
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Disproportionate short stature, Decreased circulating antibody level, Recurrent inf... OMIM:617425
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Lymphadenitis, Decreased activity of NADPH oxidase, Granulomatosis, Cough, Hepatom... OMIM:306400
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Short stature, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil mot... OMIM:266265
Complement Factor D Deficiency
Recurrent bacterial infections, Partial functional complement factor D deficiency OMIM:613912
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Recurrent aspiration pneumonia, Neonatal respiratory distress, Psoria... ORPHA:221139
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B l... OMIM:619164
Shigellosis
Failure to thrive in infancy, Pneumonia, Myocarditis, Peritonitis, Rhabdomyolysis, Leukocytosis, ... ORPHA:810
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... OMIM:619693
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis, Decreased circulating complement C8 concentration OMIM:613789
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Growth delay, Decreased circulating total IgM, D... OMIM:612301
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Productive cough, ... OMIM:615482
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Retroperitoneal fibrosis, Prostatiti... ORPHA:449432
Graft Versus Host Disease
Elevated hepatic transaminase, Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Complement Factor B Deficiency
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacter... OMIM:615561
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... ORPHA:723
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my... ORPHA:169090
Sneddon Syndrome
Cerebral hemorrhage, Decreased circulating total IgM, Hypertension, Ischemic stroke, Lymphopenia OMIM:182410
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Igg4-Related Kidney Disease
Lymphadenitis, Abnormal lung morphology, Increased circulating IgG level, Tubulointerstitial neph... ORPHA:449395
Trimethylaminuria
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 27B
Generalized lymphadenopathy, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteom... OMIM:615978
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Short stature, Portal hypertension,... OMIM:613385
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in... OMIM:616433
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... OMIM:615451
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Sep... ORPHA:319218
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... ORPHA:293173
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Skin rash, Myocarditis, Recurrent pharyngitis, Vas... ORPHA:2331
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Tachycardia, Eosinophilia,... ORPHA:98849
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... ORPHA:48435
Boutonneuse Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Vasc... ORPHA:83313
Relapsing Polychondritis
Abnormal endocardium morphology, Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myoc... ORPHA:728
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Short stature, Microcytic anemia, Asthma, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopath... OMIM:619750
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Hemolytic anemia, Short stature, Abscess, Perianal abscess, Lymphadenopathy, Hepat... OMIM:618935
Idiopathic Achalasia
Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia ORPHA:930
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Short stature, Chronic pulm... OMIM:618131
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... OMIM:613812
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis ORPHA:3165
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... OMIM:611884
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... ORPHA:171
Avian Influenza
Respiratory distress, Nonproductive cough, Tachypnea, Sepsis, Leukopenia, Conjunctivitis, Cough, ... ORPHA:454836
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... OMIM:137100
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Asthma, Recurrent infections, Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morpholog... ORPHA:449427
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:300991
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Intrauterine growth retardation, Decreased cir... OMIM:620005
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Respiratory insuff... ORPHA:848
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Dyspnea, Chronic pu... OMIM:613490
Listeriosis
Respiratory distress, Liver abscess, Granulomatosis, Conjunctivitis, Cholecystitis, Infectious en... ORPHA:533
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... ORPHA:73263
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Dyspnea, Meningitis, Uveitis, Lymphadenopath... ORPHA:36412
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Eosinophilopenia
Decreased eosinophil count, Allergic rhinitis OMIM:131430
Bloom Syndrome
Elevated hemoglobin A1c, Postnatal growth retardation, Cryptorchidism, Recurrent upper respirator... OMIM:210900
Ataxia-Telangiectasia
Elevated hepatic transaminase, Recurrent respiratory infections, Short stature, Telangiectasia of... ORPHA:100
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Postnatal growth retardation, Increased circulating IgE level, Thyroiditis... OMIM:618985
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:615504
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Decreased circulating antibody level, Leukopenia, Colitis, Bone mar... OMIM:615190
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ... ORPHA:3260
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Recurrent Staphylococcus... OMIM:613860
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:608644
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Circulating immune complexes, Splenom... ORPHA:91138
Lujo Hemorrhagic Fever
Respiratory distress, Shock, Maculopapular exanthema, Skin rash, Crackles, Myocarditis, Fulminant... ORPHA:319213
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Ant... ORPHA:227990
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Short stature, Autoimmune thrombocy... ORPHA:391487
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Pneumonia, Cardiac conduction abnormality, Abnormality ... ORPHA:97244
Immunodeficiency 42
Hepatomegaly, Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thy... OMIM:616622
Scedosporiosis
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... ORPHA:449280
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ... ORPHA:60033
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia... ORPHA:227982
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Jaundice, Hepatiti... ORPHA:186
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Lymphatic Filariasis
Wheezing, Opportunistic bacterial infection, Glomerulonephritis, Orchitis, Lymphadenitis, Circula... ORPHA:2035
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Nail bed telangiectas... ORPHA:90291
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... ORPHA:732
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Yao Syndrome
Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Asthma, W... OMIM:617321
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Skin rash, Pustule, Myocarditis, Cervical lymphadenopa... ORPHA:50918
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Pulmonary edema, Apnea, Cardiomegaly, Hepato... ORPHA:79330
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Short stature, Bone-marrow foam cells, Thrombocyt... OMIM:607616
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Increased circulating ... ORPHA:74
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hemolytic anemia, Hepatomegal... OMIM:615846
Neonatal Alloimmune Neutropenia
Pneumonia, Severe infection, Jaundice, Sepsis, Neutropenia in presence of anti-neutropil antibodi... ORPHA:464370
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... OMIM:275350
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocardi... ORPHA:3342
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Skin rash, Hepatomegaly OMIM:619175
Eosinophilic Gastroenteritis
Allergic rhinitis, Eosinophilia, Leukocytosis, Asthma, Atopic dermatitis, Hematochezia, Ascites, ... ORPHA:2070
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Short stature, Recurrent viral infections, Postna... OMIM:609981
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Elevated circulating creatine kinase concentration, Asplenia,... OMIM:185070
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Myositis, Skin rash, Increased circulating IgA level, Follicula... OMIM:615934
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Leukopeni... ORPHA:289390
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah... OMIM:607765
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia... ORPHA:221
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Chronic infection, Congestive heart fail... ORPHA:139507
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:615505
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Cholangitis, Orchitis, Keratitis, Retr... ORPHA:449563
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Granuloma... ORPHA:562639
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... OMIM:615481
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... ORPHA:69126
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia OMIM:253600
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, Chronic infecti... ORPHA:231226
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Pleural e... ORPHA:85414
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Short stature, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocyt... OMIM:242860
Colchicine Poisoning
Respiratory distress, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Cardiores... ORPHA:31824
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Hepatomegaly, Reduced natural killer ce... OMIM:608233
Polyarteritis Nodosa
Pericarditis, Raynaud phenomenon, Abnormal lung morphology, Weight loss, Cardiomyopathy, Hyperten... ORPHA:767
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Lympha... OMIM:617591
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Eczema, Elevated circulating aspartate aminotransferase conce... OMIM:170100
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic r... OMIM:614679
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Situs inversus totalis... OMIM:617092
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha... OMIM:603552
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... OMIM:616037
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Pleuritis, Leukopenia, Malar rash, Ne... OMIM:152700
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... OMIM:613807
C1Q Deficiency 2
Chilblains, Pneumocystis carinii pneumonia, Discoid lupus rash, Atelectasis, Decreased circulatin... OMIM:620321
Dyskeratosis Congenita, Digenic
Short stature, Recurrent infections, Decreased circulating total IgM, Intrauterine growth retarda... OMIM:620040
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Cholecystiti... ORPHA:99827
Interstitial Lung Disease 2
Dyspnea, Pulmonary arterial hypertension, Alveolar cell carcinoma, Increased circulating antibody... OMIM:178500
Lambert Syndrome
Jaundice, Cholestasis, Decreased circulating antibody level, Intrahepatic biliary atresia, Intrau... ORPHA:1296
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, BCGosis, Hepatosplenomegaly, Thrombocytosis,... OMIM:618963
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Failure to thrive, Aspiration pneumonia OMIM:609528
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Vasculitis, Lymphadenopat... OMIM:617099
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Rhizomelia, Cryptorchidism, Recurrent pneumonia, Recurrent upper respirator... OMIM:607143
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Short stature, Elevated circulating asp... OMIM:614921
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... ORPHA:99095
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Increased circulating ferritin concen... OMIM:619313
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen ORPHA:89844
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Splenomegaly, Lymphadenitis, Leukocytosis, D... OMIM:615895
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Cryptorchidism, Recurrent infections, Agammaglobulinemia, Decreased circulating antibody level, I... OMIM:616910
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia... ORPHA:228426
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Short stature, Reduced natural killer cell activity, Diffuse alveolar he... OMIM:616050
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Short stature, Recurrent infections, Growth delay, Panhypogammaglobul... ORPHA:251009
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Right ventricular failure, Chylous ascites, Decreased circulati... ORPHA:90363
Esophagitis, Eosinophilic, 2
Eosinophilia, Esophagitis OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Esophagitis OMIM:610247
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Hematemesis, Jaundice, Severe viral infection, Hepatiti... ORPHA:319251
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... OMIM:619374
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... OMIM:300455
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal a... OMIM:612541
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hepatitis ORPHA:363523
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:616481
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology, Respiratory insufficiency, Restrictiv... ORPHA:724
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Abnormal lymphocyte proliferation, Recurrent viral infections, Sepsis, Elevat... OMIM:619573
Immunodeficiency 31C
Cough, Disseminated histoplasmosis, Recurrent vulvovaginal candidiasis, Hepatomegaly, Short statu... OMIM:614162
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Recu... ORPHA:508533
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Recurrent otiti... OMIM:620032
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie... OMIM:615500
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Raynaud phenomenon, Leukocy... OMIM:615688
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,... ORPHA:228119
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf... OMIM:617475
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Decreased circ... OMIM:610984
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Pulmonary embolism, Decreased circulating antibody level, Growth delay, Iron defici... OMIM:226300
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Systemic Lupus Erythematosus, Susceptibility To, 6
Arthritis, Pericarditis, Malar rash, Pleuritis OMIM:609939
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... OMIM:617237
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... OMIM:618063
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,... OMIM:612387
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia ORPHA:3204
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypne... ORPHA:36238
Ciliary Dyskinesia, Primary, 16
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otit... OMIM:614017
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Eleva... OMIM:614480
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Elevated circu... OMIM:614034
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Hydrocele testis, Recurrent inf... OMIM:605309
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Abnormal pulmonary valve cusp morphology, Right... ORPHA:97287
Microlissencephaly
Pneumonia ORPHA:1083
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Cardiac arrest, Splenomegal... ORPHA:77260
Sézary Syndrome
Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, Lymphadeno... ORPHA:3162
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Hypertensive crisis, Pneumonia, Respiratory tract infection, Myocarditis, Dyspn... ORPHA:544482
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Stillbirth OMIM:152800
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ... OMIM:612650
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... OMIM:260920
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... ORPHA:892
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Recurren... OMIM:608647
Tropical Endomyocardial Fibrosis
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... ORPHA:75565
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion OMIM:602248
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... ORPHA:167
Zika Virus Disease
Maculopapular exanthema, Skin rash, Meningitis, Increased circulating IgM level, Arthritis, Conju... ORPHA:448237
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly... OMIM:614576
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Anemia of ... ORPHA:75564
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen... OMIM:620010
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Spo... OMIM:214500
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Allergic rhinitis, Eczema, Asthma, Decreased circulating total IgM, Elevated circulat... OMIM:618162
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... OMIM:614172
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Decreased circulating IgG2 level, Abnormal pleura morphology ORPHA:2571
Bronchogenic Cyst
Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnor... ORPHA:2357
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Wrist flexion contracture, Congenital finger flexion contractures, Art... OMIM:208250
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Babesiosis
Hemolytic anemia, Hepatomegaly, Myocardial infarction, Splenomegaly, Jaundice, Recurrent pharyngi... ORPHA:108
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Immunodeficiency 13
Lymphopenia, Recurrent shingles, Recurrent pneumonia, Recurrent upper respiratory tract infection... OMIM:615518
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Vasculitis, Sepsis,... ORPHA:70578
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha... ORPHA:42642
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... OMIM:158310
Scorpion Envenomation
Bundle branch block, Acute pancreatitis, Tachycardia, Cardiac conduction abnormality, Myocarditis... ORPHA:466677
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Situs invers... OMIM:613808
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Decreased circulating ... OMIM:602668
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Complement Factor H Deficiency
Depletion of components of the alternative complement pathway, Recurrent bacterial infections, De... OMIM:609814
Isolated Sedoheptulokinase Deficiency
Short stature, Portal hypertension, Neonatal asphyxia, Hepatitis, Hypochromic microcytic anemia, ... ORPHA:440713
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Short stature, Asthma, Increased circulating... ORPHA:634
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Decreased response to growth hormone stimul... ORPHA:1855
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Situs inversus tot... OMIM:615444
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Liver abscess, Abnormal pericardium morphology, Dyspnea, Congestive heart failure, ... ORPHA:67
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Left ventricular ... OMIM:242840
Myeloma, Multiple
Paraproteinemia OMIM:254500
Acute Lung Injury
Respiratory distress, Shock, Acute pancreatitis, Increased circulating interleukin 6 concentratio... ORPHA:178320
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... ORPHA:906
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Orthostatic hypotension, Eosinophilia, ... ORPHA:199299
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachypnea, Ventricular tachycardia, Atrioventricular bl... ORPHA:26793
Riddle Syndrome
Decreased circulating IgG level, Short stature, Pulmonary fibrosis OMIM:611943
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Thrombocytopenia, Splenomeg... OMIM:617303
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Short stature OMIM:602361
Sarcoidosis
Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Uveitis, ... ORPHA:797
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin... OMIM:214900
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... ORPHA:98897
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen... OMIM:619868
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... ORPHA:422
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Cardiorespiratory arrest, Respiratory insufficiency, Arrhythmia ORPHA:93317
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreas... OMIM:603585
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Right ventricular dilata... ORPHA:2041
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Abnormal pleura morphology, Splenomegaly, Hepatitis, Ascites ORPHA:584
Ciliary Dyskinesia, Primary, 13
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis med... OMIM:613193
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Upper limb muscle weakness, Respirat... ORPHA:90117
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... OMIM:269200
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Immotile cilia, Chronic... OMIM:244400
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy, Recurrent infections OMIM:251240
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia OMIM:247610
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Bone marrow hy... ORPHA:391
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Recurr... OMIM:610199
Wells Syndrome
Vasculitis, Eosinophilia ORPHA:901
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Conjunctival telangiectasia, Sinusitis, Short statu... OMIM:208900
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Drug-Induced Lupus Erythematosus
Pericarditis, Pericardial effusion, Dyspnea, Thrombocytopenia, Prolonged QTc interval, Malar rash... ORPHA:231111
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Alopecia Antibody Deficiency
Recurrent respiratory infections, Short stature, Decreased circulating antibody level ORPHA:1006
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent infections, Lymphadenopathy, Recurrent bacterial infection... OMIM:612783
Mirage Syndrome
Recurrent urinary tract infections, Short stature, Cryptorchidism, Thrombocytopenia, Sepsis, Intr... OMIM:617053
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Recurrent respiratory infections, Internally nucleated skeletal muscle f... ORPHA:98905
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhiniti... OMIM:614935
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Severe short stature, Growth delay, Respiratory failure, Aspiratio... OMIM:619057
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Ventricula... OMIM:601005
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... ORPHA:101330
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte physiol... ORPHA:99867
Alstrom Syndrome
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Short s... OMIM:203800
Neuronal Intestinal Pseudoobstruction
Recurrent infections, Decreased circulating antibody level ORPHA:99811
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Raynaud phenomenon, Dyspnea, Hepatitis, Abnorm... ORPHA:589
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Cough, Hilar lymph node enlargement, Hepatomegaly, Tricuspid regurgitation, Atelectasis... OMIM:620233
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Invasive parasitic infection, Splenome... ORPHA:158048
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we... ORPHA:2590
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... OMIM:619463
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... OMIM:606763
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... OMIM:214950
Complement Component 5 Deficiency
Reduced hemolytic complement activity, Recurrent Neisserial infections, Generalized seborrheic de... OMIM:609536
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block,... ORPHA:509
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,... OMIM:618165
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Short stature, Hepatocellular c... OMIM:232220
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur... ORPHA:545
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Psoriasiform dermatitis, Decreased response to growth hormone stimulati... ORPHA:293978
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Increased inflammatory response, Pericarditis, Camptodactyly of finger, Knee osteoarthritis, Mitr... ORPHA:2848
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Immunoneurologic Disorder, X-Linked
Neonatal death, Decreased circulating IgG2 level OMIM:300076
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... OMIM:613313
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hemo... ORPHA:398124
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, ... ORPHA:31204
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Chronic bronchiti... OMIM:612649
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:300200
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ... ORPHA:379
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Abnormal pulmonary inter... ORPHA:77259
African Trypanosomiasis
Abnormal EKG, Pericarditis, Hepatomegaly, Keratitis, Myocarditis, Congestive heart failure, Jaund... ORPHA:3385
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Recurrent urinary tract infections, Skin rash, Cheilitis, Hepat... ORPHA:1334
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Congen... ORPHA:436252
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno... OMIM:181000
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Growth ... OMIM:248500
Trichohepatoenteric Syndrome 2
Hepatomegaly, Chronic hepatitis, Colitis, Cirrhosis, Intrauterine growth retardation OMIM:614602
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... ORPHA:91348
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... ORPHA:79126
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... ORPHA:99106
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash... OMIM:618549
Amyloidosis, Familial Visceral
Hepatomegaly, Skin rash, Splenomegaly, Cholestasis, Hypertension OMIM:105200
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu... ORPHA:2414
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... OMIM:615631
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... OMIM:615607
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Short stature, Thrombocytopenia, Osteoarthritis, Splen... ORPHA:355
Thrombocytopenia-Absent Radius Syndrome
Short stature, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Hepatosplenom... OMIM:274000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inf... ORPHA:83617
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Schimke Immunoosseous Dysplasia
Pancytopenia, Transient ischemic attack, Abnormal immunoglobulin level, Bilateral cryptorchidism,... OMIM:242900
Icf Syndrome
Recurrent respiratory infections, Short stature, Abnormality of neutrophils, Decreased circulatin... ORPHA:2268
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, ... ORPHA:32960
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect... ORPHA:79128
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Gas... ORPHA:727
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiec... OMIM:620197
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Incontinentia Pigmenti
Skin rash, Eosinophilia, Supernumerary nipple, Short stature, Keratitis, Telangiectasia of the sk... ORPHA:464
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Acute pancreatitis, Pericarditis, Hepatomegaly, ... OMIM:619487
Lassa Fever
Shock, Dyspnea, Jaundice, Sepsis, Increased circulating IgM level, Conjunctivitis, Cough ORPHA:99824
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Acute hepatitis, Decreased liver function, Hepatomegaly OMIM:238970
Immunodeficiency 77
Nontuberculous mycobacterial pulmonary infection, Chronic pulmonary obstruction, Recurrent tonsil... OMIM:619223
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenomegaly, Recurren... ORPHA:309288
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Atrial fibrillat... OMIM:613327
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... OMIM:278000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... OMIM:618278
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chroni... OMIM:240300
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Incontinentia Pigmenti
Maculopapular exanthema, Eosinophilia, Supernumerary nipple, Short stature, Keratitis, Leukocytos... OMIM:308300
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r... OMIM:617827
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,... ORPHA:562
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Hepatoportal Sclerosis
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... ORPHA:64743
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial nephritis, ... ORPHA:470
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Hypoxemia, Increased circulating IgG level, Intrac... ORPHA:284227
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Meni... OMIM:249100
Juvenile Dermatomyositis
Calcinosis, Bundle branch block, Myositis, Pericarditis, Skin rash, Gastrointestinal hemorrhage, ... ORPHA:93672
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Multilobulated spleen, Neonatal death, Intrauterine growth r... OMIM:601186
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Giant cell ... ORPHA:79095
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Gastritis, Short stature, Increased mean platelet volume, Spl... ORPHA:84064
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di... OMIM:613404
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, Os... ORPHA:342
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell... OMIM:603553
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... ORPHA:117
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Intrauterine growth retardation, Short stature, Minimal ch... ORPHA:1830
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun... ORPHA:100026
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Cryoglobulinemia, Gastrointestinal hemorrhage, Epistaxis, Abnorm... ORPHA:33226
Alg12-Cdg
Elevated hepatic transaminase, Recurrent respiratory infections, Abnormal circulating enzyme conc... ORPHA:79324
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Acute Disseminated Encephalomyelitis
Respiratory failure requiring assisted ventilation, Viral hepatitis, Disseminated viral infection... ORPHA:83597
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Short stature, Impaired T cell function, Splenomegaly, Low alkaline phosphatase, Re... OMIM:201100
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Hereditary Orotic Aciduria
Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia ORPHA:30
Marburg Hemorrhagic Fever
Nonproductive cough, Uveitis, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Re... ORPHA:99826
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Sepsis, Leukopenia, Conjunctivitis, Decreased circulating IgG level, Tricus... ORPHA:505248
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Granulomatosis With Polyangiitis
Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Chronic pulmonary obstructi... ORPHA:900
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Abnormal lung lobation, Low alkaline phosphatase, Decreased circulating total... ORPHA:369837
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Giant Cell Arteritis
Pericarditis, Epistaxis, Abnormal pleura morphology, Sudden cardiac death, Recurrent pharyngitis,... ORPHA:397
Hennekam Syndrome
Recurrent respiratory infections, Mild postnatal growth retardation, Splenomegaly, Pulmonary lymp... ORPHA:2136
Lichen Planopilaris
Hepatitis ORPHA:525
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Acute hepatic failure, Elevated circulating a... OMIM:277900
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le... ORPHA:29073
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Respirato... ORPHA:29207
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Congenital Isolated Acth Deficiency
Hepatitis, Hypotension, Prolonged neonatal jaundice ORPHA:199296
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... OMIM:224100
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Short stature, Eczema, Postnatal growth retarda... OMIM:212750
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Short stature, Dysgammaglobu... OMIM:251260
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Vici Syndrome
Recurrent respiratory infections, Short stature, Decreased circulating IgG2 level, Recurrent infe... ORPHA:1493
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... OMIM:613070
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... ORPHA:209902
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Short stature, Pneumonia, Autoimmune thrombocytopenia, Raynaud ... OMIM:607944
Ring Chromosome 21 Syndrome
Short stature, Decreased circulating antibody level ORPHA:1445
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Heart murmur, Abnormal heart morphology ORPHA:1867
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia OMIM:250220
Pearson Syndrome
Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Postnatal growth retardation, S... ORPHA:699
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Pulmonar... ORPHA:70588
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Nodular regenerative hyperp... ORPHA:247691
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Epistaxis, Splenome... OMIM:211600
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, Neutropenia, M... ORPHA:90051
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... OMIM:613027
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo... ORPHA:662
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... ORPHA:131
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Hypoventilation, Elevated circulating aspartate aminotransferase concentration, Dec... OMIM:606056
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Short statur... ORPHA:79259
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Microcytic anemia, Cardiomegaly, Increased cir... OMIM:256040
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Chronic lymphocytic meningitis, Neutrophilia, Severe periodontitis, Short stature, ... ORPHA:99843
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Cardiomyopathy, Hepatic fibrosis, Thro... OMIM:212065
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Eleva... OMIM:601847
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Apnea, Episodic tachypnea, Abnormal heart morphology, Aspiration pneumonia ORPHA:79264
Mitochondrial Complex I Deficiency, Nuclear Type 33
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia, Intrauterine... OMIM:618253
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Cowden Syndrome 1
Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian cyst, Recurrent infe... OMIM:158350
Congenital Fiber-Type Disproportion Myopathy
Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsiflexor weakness, H... ORPHA:2020
Absence Of The Pulmonary Artery
Cardiomegaly, Nonproductive cough, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bron... ORPHA:980
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm... ORPHA:330015
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Short stature, Increased mean platelet volume, Abnormality of... OMIM:222470
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Neonatal respiratory distress, Multiple joint contractures, Hypoventilat... ORPHA:70
Chromomycosis
Keratitis, Abnormal lung morphology, Recurrent bacterial infections, Keratoconjunctivitis sicca, ... ORPHA:182
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Reduced level o... ORPHA:79329
Kenny-Caffey Syndrome, Type 1
Proportionate short stature, Birth length less than 3rd percentile, Recurrent bacterial infection... OMIM:244460
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Orthopnea, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgi... ORPHA:75249
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Uveiti... OMIM:186580
Fanconi Anemia, Complementation Group F
Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, ... OMIM:603467
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... ORPHA:79078
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade... ORPHA:231214
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Pituitary Dermoid And Epidermoid Cysts
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea ORPHA:91351
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Reduced level... OMIM:224120
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis OMIM:619183
Cystic Fibrosis
Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu... OMIM:219700
Yellow Fever
Shock, Acute pancreatitis, Neutrophilia, Skin rash, Increased circulating interleukin 6 concentra... ORPHA:99829
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i... OMIM:230800
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Congestive ... ORPHA:354
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Increased circulating l... ORPHA:247598
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... OMIM:615415
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El... OMIM:235555
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Skin rash, Pneumonia, Decreased circulating complement factor B concentration, ... ORPHA:2298
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Angina pectoris, Lymphadenopathy ORPHA:79292
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Increased circulating interleukin 6 concentration, Acute tubulointerstitial... ORPHA:340
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary in... ORPHA:77261
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Small for gestational age, Ventricular septal defect, Flexion cont... ORPHA:79243
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interstitial pneumoniti... OMIM:127550
Blau Syndrome
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I... ORPHA:90340
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hypoplasia of the ovary, ... ORPHA:66628
Say-Barber-Miller Syndrome
Short stature, Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infan... ORPHA:3132
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections OMIM:618648
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Elevated hepatic transaminase... ORPHA:586
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Oligozoospermia, Infertility, Oligomenorrhea, Ambiguous genitalia, Female pse... ORPHA:786
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Hypoplasia of the ovary, ... ORPHA:179494
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pn... OMIM:230900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Abnormality of the pancreas, Agammaglobulinemia, Lymphopenia, A... ORPHA:935
Smith-Kingsmore Syndrome
Cryptorchidism, Rhizomelia, Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Acute Liver Failure
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Skin rash, Jaundice, Hepatitis... ORPHA:90062
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Short stature, Pneumonia, Reduced leukocyte arylsulfatase ... OMIM:253200
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp... ORPHA:314655
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Short... OMIM:611881
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita... ORPHA:64744
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Sepsis, Decreased circulating antibody level, Growth delay, Recurrent ... ORPHA:79396
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... OMIM:139090
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Short stature OMIM:300484
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Pneumonia, Short stature, Respiratory insufficiency, Hypotension, Mas... ORPHA:2135
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Incr... OMIM:210250
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Pulmonary embolism, Right ventricular dilatation, Abnormal left ventricular functi... ORPHA:70591
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Tick-Borne Encephalitis
Elevated hepatic transaminase, Meningitis, Leukocytosis, Unusual CNS infection, Leukopenia, Incre... ORPHA:297
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Decreased liver function, Hepa... ORPHA:415
Infantile Systemic Hyalinosis
Severe short stature, Telangiectasia of the skin, Polycystic ovaries, Growth delay, Recurrent bac... ORPHA:2176
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... ORPHA:3202
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Cryptorchidi... OMIM:241410
Dubowitz Syndrome
Aplastic anemia, Eczema, Short stature, Postnatal growth retardation, Cryptorchidism, Recurrent i... OMIM:223370
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... ORPHA:731
Trichothiodystrophy 1, Photosensitive
Short stature, Asthma, Telangiectasia, Recurrent infections, Keratoconjunctivitis sicca, Erythrod... OMIM:601675
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Short stature, Eczema, Dyspnea, Asthma, Increased circula... OMIM:619472
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Postnatal growt... ORPHA:288
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Plague
Respiratory distress, Chapped lip, Hepatomegaly, Tachycardia, Skin rash, Erythema nodosum, Spleno... ORPHA:707
Japanese Encephalitis
Respiratory distress, Neutrophilia, Pulmonary edema, Meningitis, Increased circulating IgM level,... ORPHA:79139
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... ORPHA:60025
Gapo Syndrome
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea ORPHA:2067
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Trichothiodystrophy
Congenital exfoliative erythroderma, Eczema, Recurrent bronchopulmonary infections, Cryptorchidis... ORPHA:33364
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Sepsis, Abnormal left ventricular function,... OMIM:619991
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impa... OMIM:153670
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Chops Syndrome
Ventricular septal defect, Splenomegaly, Obesity, Anomalous pulmonary venous return, Aspiration p... OMIM:616368
Cirrhosis, Familial
Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Hypertension, Cirrhosis... OMIM:215600
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Short stature, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Ascites... OMIM:301072
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Asthma, Decreased circulating IgA level ORPHA:457485
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis, Granulocytopenia,... ORPHA:454831
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Aspiration pneumonia, Cough ORPHA:216866
Digeorge Syndrome
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... OMIM:188400
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Failure to thrive, Pancreatitis, Aspiration pneumonia ORPHA:431361
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Diarrhea 10, Protein-Losing Enteropathy Type
Cryptorchidism, Recurrent upper respiratory tract infections, Decreased circulating antibody leve... OMIM:618183
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Abnormal circulating enzyme concentration or activity, Recurrent urinary tr... ORPHA:309282
Cartilage-Hair Hypoplasia
Hepatomegaly, Rhizomelia, Heart block, Abnormality of the pancreas, Respiratory insufficiency, De... ORPHA:175
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Cushing Disease
Adrenal hyperplasia, Acne, Myocardial infarction, Pituitary corticotropic cell adenoma, Leukocyto... ORPHA:96253
Geleophysic Dysplasia 3
Hepatomegaly, Short stature, Pneumonia, Dyspnea, Respiratory failure, Mitral regurgitation OMIM:617809
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Cardiomyopathy, Decreased beta-galactosidase activity, Aspiration pneumonia, ... ORPHA:79255
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Hypoplasia of the Le... ORPHA:64
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Erythema nodosum, Splen... OMIM:613471
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Tachycardia, Increased circulating lactate dehydrogenase concentra... ORPHA:94093
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Hepatomegaly, Cardiomegaly, Respiratory tract infection, Aden... ORPHA:581
Occipital Horn Syndrome
Recurrent urinary tract infections, Jaundice, Hepatitis, Cholestasis, Esophagitis ORPHA:198
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad... ORPHA:95699
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Pancreatoblastoma, Pituitary corticotropic ... ORPHA:99889
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Hepatic hemangioma, Re... ORPHA:73230
Progeroid Short Stature With Pigmented Nevi
Short stature, Allergic rhinitis, Impaired T cell function, Recurrent viral infections, Allergic ... OMIM:176690
Monosomy 18Q
Left-to-right shunt, Short stature, Bilateral cryptorchidism, Congestive heart failure, Growth de... ORPHA:1600
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Adrenal hyperplasia, Pneumonia, Jaundice, Macroorchidism ORPHA:90790
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Ventricular septal defect, Recurrent aspiration pneumonia OMIM:300472
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D... ORPHA:79404
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Dyspnea, Congestive heart failure, Bronchiectasi... OMIM:123700
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligozoospermia OMIM:614813
Velocardiofacial Syndrome
Hypoparathyroidism, Short stature, Impaired T cell function, Cryptorchidism, Recurrent infections... OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Parathyroid hypopl... ORPHA:2237
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Sinusitis, Facial palsy, Pneumonia, Respiratory tract infection, Pustule, Ar... ORPHA:68
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... ORPHA:330021
Degcags Syndrome
Leukopenia, Iron deficiency anemia, Intrauterine growth retardation, Hepatomegaly, Congenital hyp... OMIM:619488
Infantile Neuroaxonal Dystrophy
Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Aspiration... ORPHA:35069
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Rhizomelia, Disproportionate short-limb short stature, Neutropenia, Laryngotracheomalacia, Decrea... OMIM:271510
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Weight los... ORPHA:1018
Niemann-Pick Disease Type C
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Low cholesterol esterification rate, Splenom... ORPHA:646
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Marshall-Smith Syndrome
Ventricular septal defect, Apnea, Recurrent upper respiratory tract infections, Airway obstructio... OMIM:602535
22Q11.2 Deletion Syndrome
Impaired T cell function, Abnormal lung lobation, Hypoplasia of the thymus, Chronic otitis media,... ORPHA:567
Tay-Sachs Disease
Abnormal circulating enzyme concentration or activity, Aspiration pneumonia, Hepatosplenomegaly ORPHA:845
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Failure to thrive, Aspiration pneumonia OMIM:616430
Mosaic Trisomy 9
Asplenia, Intrauterine growth retardation, Abnormal liver lobulation ORPHA:99776
Aymé-Gripp Syndrome
Pericardial effusion, Pericarditis, Congenital diaphragmatic hernia, Camptodactyly ORPHA:1272
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Severe short stature, Eczema, Keratitis, Cryptorc... ORPHA:2273
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia, Short stature OMIM:258865
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Cardiofacioneurodevelopmental Syndrome
Asplenia, Abdominal situs inversus OMIM:619123
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, S... ORPHA:91500
Tetrasomy 9P
Absent gallbladder, Myositis, Pericarditis, Dextrocardia, Raynaud phenomenon, Jaundice, Biliary a... ORPHA:3310
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anterior uveitis, Inflammatory abnormality of the skin, Respiratory failure... ORPHA:95455
Miller-Dieker Lissencephaly Syndrome
Abnormal heart morphology, Joint contracture of the hand, Camptodactyly, Failure to thrive, Recur... OMIM:247200
Cornelia De Lange Syndrome 1
Short stature, Pneumonia, Cryptorchidism, Hypoplastic nipples, Otitis media, Intrauterine growth ... OMIM:122470
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Orthostatic hypotension due to autonomic dysfunction, Abscess, Growth d... ORPHA:642
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Ca... ORPHA:353281
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Recurrent respiratory infections, Short stature, Apnea, Supernumer... ORPHA:397715
Carney Complex
Ovarian dermoid cyst, Sertoli cell neoplasm, Testicular neoplasm, Precocious puberty, Testicular ... ORPHA:1359
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Coffin-Siris Syndrome
Postnatal growth retardation, Cryptorchidism, Recurrent upper respiratory tract infections, Recur... ORPHA:1465
Sweeney-Cox Syndrome
Asplenia OMIM:617746
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas ORPHA:210122
Cholera
Tachycardia, Tachypnea, Hypovolemic shock, Hypotension, Aspiration pneumonia, Hyperventilation ORPHA:173
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Sponastrime Dysplasia
Rhizomelia, Recurrent pneumonia, Decreased circulating antibody level, Disproportionate short-lim... ORPHA:93357
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Short stature OMIM:619657
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Asthma, Obesity, Abnormal heart morphology, ... ORPHA:444077
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Elevated amni... OMIM:249000
Ayme-Gripp Syndrome
Pericarditis, Camptodactyly OMIM:601088
Opitz Gbbb Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheomalacia, Abnormal heart morpho... ORPHA:2745
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Ca... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Pneumonia, Ca... ORPHA:353277
Alobar Holoprosencephaly
Central apnea, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, A... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, A... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, A... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Flexion contracture, Abnormal heart morphology, Abnormal heart rate variability, A... ORPHA:220386
Fontaine Progeroid Syndrome
Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Small for gestational age, ... OMIM:612289
Feingold Syndrome 1
Asplenia, Annular pancreas, Polysplenia, Accessory spleen OMIM:164280
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... ORPHA:564
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Proportionate short stat... ORPHA:500150
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:616268
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Aspiration pneumonia, Orthostatic hypotension ORPHA:99027
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Short stature, Pneumonia, Cryptorchidism, Hypoplasia of the thy... OMIM:264090
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Bicuspid aortic valve, Ventricular septal defect, Apnea, Breathing dysregulation... ORPHA:438213
Pseudoaminopterin Syndrome
Asplenia, Short stature ORPHA:221120
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Asplenia, Biliary atresia, Abdominal situs inversus, Polysplenia OMIM:306955
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p... OMIM:619482
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Pulmonary lymphangiectasia, Neonatal death OMIM:265380
Kabuki Syndrome 1
Hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Postnatal growth retardation, Crypt... OMIM:147920
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Intrauterine growth retardation, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Short stature, Pulmonary artery sling, Asplenia, Cryptorchidism, Decreased circulating antibody l... ORPHA:261537
Pmm2-Cdg
Respiratory distress, Elevated hepatic transaminase, Pericarditis, Angina pectoris, Elevated circ... ORPHA:79318
Mowat-Wilson Syndrome
Short stature, Pulmonary artery sling, Asplenia, Cryptorchidism, Enterocolitis, Decreased circula... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Short stature, Pulmonary artery sling, Asplenia, Cryptorchidism, Hyphema, Decreased circulating a... ORPHA:261552
Tetraamelia Syndrome 1
Asplenia OMIM:273395
Doors Syndrome
Respiratory distress, Thrombocytosis, Adrenal hyperplasia, Aspiration pneumonia ORPHA:79500
Yunis-Varon Syndrome
Ventricular septal defect, Small for gestational age, Failure to thrive in infancy, Heart murmur,... OMIM:216340

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Bcl6

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bcl6.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Interferon-γ production by Tfh cells is required for CXCR3+ pre-memory B cell differentiation and subsequent lung-resident memory B cell responses. Immunity (September 2023) Bcl6tm1a(EUCOMM)Wtsi 37699392
IFNAR1 signaling in NK cells promotes persistent virus infection. Science advances (March 2021) Bcl6tm1a(EUCOMM)Wtsi PMC7997497

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Bcl6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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