Gene: Tnfrsf1b MGI:1314883

Gene Summary

Name:

tumor necrosis factor receptor superfamily, member 1b

Synonyms:

TNFalpha-R2, Tnfr2, p75, TNF-R2, CD120b, p75 TNFR, TNFRII, TNFBR, TNF-R-II, TNF-R75, TNFR80, TNF-alphaR2

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.

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating total protein level	Tnfrsf1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.42×10^-05
increased B cell number	Tnfrsf1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	9.42×10^-05
decreased prepulse inhibition	Tnfrsf1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.44×10^-05
decreased locomotor activity	Tnfrsf1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	1.54×10^-06
decreased T cell number	Tnfrsf1b^{tm1a(EUCOMM)Wtsi}	HOM	Early adult	2.88×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Tnfrsf1b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Tnfrsf1b (2 diseases)
Human diseases predicted to be associated with Tnfrsf1b (782 diseases)

The table below shows human diseases associated to Tnfrsf1b by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Classic Mycosis Fungoides		Neoplasm of the skin, Eczematoid dermatitis, Lymphoma, Abnormal lymphocyte morphology, Skin rash,...	ORPHA:2584
Sézary Syndrome		Neoplasm of the skin, Lymphoma, Abnormal pleura morphology, Abnormal lymphocyte morphology, Splen...	ORPHA:3162

The table below shows human diseases predicted to be associated to Tnfrsf1b by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections	OMIM:308220
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
C1Q Deficiency 1	Recurrent infections, Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu...	OMIM:611521
Complement Component 8 Deficiency, Type I	Meningitis, Systemic lupus erythematosus	OMIM:613790
Lupus Erythematosus Tumidus	Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm...	ORPHA:90283
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Immunoglobulin A Deficiency 1	Recurrent infections, Recurrent respiratory infections, Recurrent infection of the gastrointestin...	OMIM:137100
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre...	OMIM:613860
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis	OMIM:616126
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu...	OMIM:614420
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus	OMIM:613783
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus	OMIM:613791
Immunoglobulin A Deficiency 2	Recurrent infection of the gastrointestinal tract, Recurrent sinopulmonary infections, Autoimmunity	OMIM:609529
Immunodeficiency 116	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections	OMIM:608957
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Antinuclear antibody positivity, Recurrent respiratory infections	OMIM:613495
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Hemophagocytic Syndrome Associated With An Infection	Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T ...	ORPHA:158048
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Autoimmunity, Arthritis	OMIM:216950
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Microlissencephaly	Pneumonia, Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Liss...	ORPHA:1083
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Immunodeficiency 105	Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho...	OMIM:619924
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell...	OMIM:618806
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Diabetes Mellitus, Ketosis-Prone	Autoimmunity, Beta-cell dysfunction	OMIM:612227
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Adult Acute Respiratory Distress Syndrome	Vasculitis, Hypotension, Shock, Abnormal blood gas level, Hypoxemia	ORPHA:70578
Immunodeficiency 61	Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria...	OMIM:300310
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythe...	OMIM:613779
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Immunodeficiency 43	Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le...	OMIM:241600
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections...	ORPHA:319552
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia	OMIM:152800
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit...	OMIM:608971
Lipase Deficiency, Combined	Pancreatitis	OMIM:246650
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Chronic otitis media, Verrucae, Increased circulating IgE level, Sq...	ORPHA:217390
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren...	OMIM:613500
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Immunodeficiency With Hyper-Igm, Type 2	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast...	OMIM:605258
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Eosinophilopenia	Allergic rhinitis, Autoimmunity	OMIM:131430
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent...	OMIM:607594
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Colonic eosino...	OMIM:617638
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Autoimmunity, Splenomegaly, Auto...	ORPHA:444463
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he...	ORPHA:90041
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis	OMIM:619290
Idiopathic Achalasia	Recurrent aspiration pneumonia, Bronchitis, Decreased circulating prealbumin concentration	ORPHA:930
Infant Acute Respiratory Distress Syndrome	Hypotension, Cyanosis, Bradycardia, Tachycardia, Cardiac arrest, Hypoxemia	ORPHA:70587
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia, Hypercapnia	OMIM:601887
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoimmune hemolytic anemia, ...	OMIM:619220
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells	OMIM:618982
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recur...	OMIM:613501
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre...	OMIM:300400
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Immunodeficiency 32B	Pneumonia, Hypoalbuminemia, Neutrophilia, Impaired oxidative burst, Abnormal circulating IgG leve...	OMIM:226990
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections...	OMIM:301082
Chylous Ascites	Pancreatitis	ORPHA:1160
Immunodeficiency 62	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased proporti...	OMIM:618459
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections	OMIM:616873
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Lymphoma, Recurrent otitis media, Lymphopr...	OMIM:300853
Cardiogenic Shock	Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail...	ORPHA:97292
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc...	OMIM:600803
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymphocytopeni...	OMIM:601457
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co...	OMIM:620282
Immunodeficiency 75 With Lymphoproliferation	Lymphoma, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Recurrent re...	OMIM:619126
Young Syndrome	Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec...	OMIM:279000
Multiple Myeloma	Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Pachygyria, Polymicrogyria, Aspiration pneumonia	OMIM:609528
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop...	OMIM:212050
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Immunodeficiency 27A	Pneumonia, Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammator...	OMIM:209950
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia...	OMIM:603554
Immunodeficiency 13	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Lympho...	OMIM:615518
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Recurrent lower respiratory tract i...	ORPHA:436159
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis	ORPHA:79084
Acquired Methemoglobinemia	Palpitations, Cyanosis, Arrhythmia, Syncope, Tachycardia, Hypoxemia	ORPHA:464453
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria...	OMIM:613493
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia	OMIM:619164
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve...	OMIM:607271
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Activated Pi3K-Delta Syndrome	Pneumonia, Lymphoma, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly, ...	ORPHA:397596
Dengue Fever	Lethargy, Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Verrucae, Neutrope...	OMIM:193670
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,...	OMIM:616726
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Ciliary Dyskinesia, Primary, 9	Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro...	OMIM:612444
Bronchiectasis With Or Without Elevated Sweat Chloride 3	Bronchiectasis, Chronic bronchitis	OMIM:613071
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Recurrent viral infections, Autoimmunity, Recurrent gastroent...	ORPHA:275
Mounier-Kühn Syndrome	Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections	ORPHA:3347
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections	OMIM:608106
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:603553
Isolated Agammaglobulinemia	Pneumonia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis media, Skin rash, A...	ORPHA:229717
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Autoimmune hemolyt...	OMIM:616576
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne...	OMIM:618986
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Lissencephaly	OMIM:619466
Chronic Pneumonitis Of Infancy	Hyperventilation, Hypoxemia, Cyanosis	ORPHA:91359
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection...	OMIM:608184
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Acholic stools, Jaundice, Hep...	ORPHA:65682
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac...	OMIM:618108
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Lymphoma, Recurrent ...	OMIM:240500
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections	OMIM:613502
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ...	OMIM:620632
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Recurrent bronchitis	OMIM:300455
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Griscelli Syndrome, Type 2	Recurrent bacterial infections	OMIM:607624
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m...	ORPHA:90362
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Anti-Ro/SS-A antibody positivity, Anti-dsDNA antibody positivity, Malar rash,...	ORPHA:163525
Mhc Class Ii Deficiency 1	Recurrent upper respiratory tract infections, Recurrent viral infections, Chronic mucocutaneous c...	OMIM:209920
Sjogren Syndrome	Rheumatoid arthritis, Xerostomia, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ne...	OMIM:270150
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis	OMIM:615294
Bronchopulmonary Dysplasia	Right ventricular failure, Hyperoxemia	ORPHA:70589
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis, Myelodyspl...	ORPHA:486
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Chronic bronchitis, Panacina...	OMIM:613490
Insulin Autoimmune Syndrome	Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Arthralgia/arthritis	ORPHA:411593
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Isolated Congenital Hypoglossia/Aglossia	Hamartoma, Aspiration pneumonia	ORPHA:141152
Tropical Calcific Pancreatitis	Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas	OMIM:608189
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Hepatitis, Lymphopenia, Hepatosp...	ORPHA:169160
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis	OMIM:618230
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Recurrent bronchitis, Recurrent bacterial infections	OMIM:612692
Ciliary Dyskinesia, Primary, 42	Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Panbronchiolitis, Diffuse	Hypoxemia	OMIM:604809
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Increased circulating ferritin concentration, Hypertriglycerid...	OMIM:619313
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp...	OMIM:603909
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Ciliary Dyskinesia, Primary, 23	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:615451
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anemia, Arthriti...	OMIM:620321
Pulmonary Arteriovenous Malformation	Epistaxis, Transient ischemic attack, Pulmonary hemorrhage, Palpitations, Hemothorax, Ischemic st...	ORPHA:2038
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
Ciliary Dyskinesia, Primary, 46	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:619436
High Altitude Pulmonary Edema	Tachycardia, Hypoxemia, Cyanosis	ORPHA:330012
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease...	OMIM:618394
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Otitis media, Recurrent sinusitis	OMIM:618781
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Bronchiolitis Obliterans	Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection	ORPHA:1303
Congenital Diaphragmatic Hernia	Hypoxemia	ORPHA:2140
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:618449
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,...	OMIM:615504
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Pancreatitis, Hepatic steatosis	OMIM:619386
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Reduced left ventricular ejection fraction, Arrhythmia, Tachycardia, Hypoxemia, Capi...	ORPHA:542323
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased c...	OMIM:619752
Adult Idiopathic Neutropenia	Recurrent bacterial infections, Helicobacter pylori infection, Recurrent infections, Recurrent fu...	ORPHA:2688
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti...	ORPHA:69663
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Pancreatic pseudocyst	OMIM:167800
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut...	OMIM:618282
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Increased...	ORPHA:3392
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent otitis media, Increased circulating IgE level, Decreased proportion ...	OMIM:243700
Perry Syndrome	Hypotension, Central hypoventilation	ORPHA:178509
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis	OMIM:620137
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Abnormal QRS complex, Heart murmur, Cyanosis, Abnormality of blood circ...	ORPHA:860
Ciliary Dyskinesia, Primary, 39	Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:618254
Systemic Lupus Erythematosus, Susceptibility To, 6	Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis	OMIM:609939
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Autoimmunity,...	OMIM:618495
Meconium Aspiration Syndrome	Pulmonary insufficiency, Pulmonary arterial hypertension, Hypoxemia, Abnormal heart rate variability	ORPHA:70588
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Hypoxemia	ORPHA:264675
Idiopathic Pulmonary Fibrosis	Pulmonary insufficiency, Orthodeoxia, Acrocyanosis	ORPHA:2032
Slc35A1-Cdg	Pulmonary hemorrhage, Hypoxemia	ORPHA:238459
T-Cell Immunodeficiency With Thymic Aplasia	Sepsis, Invasive fungal infection, Opportunistic infection, Severe viral infection, Recurrent can...	ORPHA:83471
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Pneumonia, Decreased circulating IgG level, Reduced natural killer cell count, Abnormally low T c...	ORPHA:276
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections...	OMIM:616100
Central Hypoventilation Syndrome, Congenital, 1	Central hypoventilation, Nocturnal hypoventilation, Decreased heart rate variability, Hypoventila...	OMIM:209880
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Colitis, Autoimmunity	OMIM:617006
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Immunodeficiency 7	Recurrent otitis media, Autoimmunity, Autoimmune hemolytic anemia, Severe varicella zoster infect...	OMIM:615387
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Asbestos Intoxication	Right ventricular failure, Oxygen desaturation on exertion, Cyanosis, Hepatojugular reflux, Hypox...	ORPHA:2302
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Hepatic steatosis	OMIM:618805
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Hepatosplenomegaly, Splenomegaly, Croh...	OMIM:618935
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis	OMIM:300991
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreas...	OMIM:614069
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Verr...	ORPHA:51636
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Fatiguable weakness of proximal limb muscles, Elevated circulating creatine kinase concentration,...	ORPHA:90117
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Autoim...	ORPHA:277
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia	OMIM:226300
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, L...	ORPHA:247585
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Microscopic Polyangiitis	Uveitis, Autoimmunity, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pan...	ORPHA:727
Autosomal Agammaglobulinemia	Bronchiectasis, Verrucae, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sin...	ORPHA:33110
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion...	ORPHA:1163
Bullous Pemphigoid	Recurrent infections, Autoimmunity, Anti-BP230 antibody positivity, Anti-BP180 antibody positivity	ORPHA:703
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Pustule, Hypothyroidism, Hypert...	ORPHA:48377
Ménétrier Disease	Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia	ORPHA:2494
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren...	OMIM:614878
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections	OMIM:606843
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Antiphospho...	OMIM:152700
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Lymphoma, Decreased proportion of CD...	ORPHA:911
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Ciliary Dyskinesia, Primary, 3	Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis	OMIM:608644
Pemphigus Erythematosus	Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Malar rash, Autoim...	ORPHA:79480
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Tempi Syndrome	Telangiectasia, Intracranial hemorrhage, Hypoxemia	ORPHA:284227
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis	OMIM:615872
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Increased circulating interleukin 6 concentration, Abnorm...	ORPHA:178320
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Eosino...	OMIM:618523
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t...	ORPHA:60033
Severe Acute Respiratory Syndrome	Hypoxemia	ORPHA:140896
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Chédiak-Higashi Syndrome	Ataxia, Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morp...	ORPHA:167
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre...	OMIM:616005
Common Variable Immunodeficiency	Pneumonia, Bronchiectasis, Lymphoma, Emphysema, Lymphopenia, Recurrent bronchitis, Otitis media, ...	ORPHA:1572
Melioidosis	Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit...	ORPHA:31202
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Ciliary Dyskinesia, Primary, 25	Recurrent pneumonia, Polysplenia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis...	OMIM:615482
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Splenomegaly	ORPHA:79312
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis	ORPHA:289916
Ciliary Dyskinesia, Primary, 28	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615505
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections, Fatigable weakness of bulbar muscles, Fatigable weak...	ORPHA:596
Mhc Class I Deficiency 1	Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis...	OMIM:604571
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis	OMIM:608600
Tako-Tsubo Cardiomyopathy	Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral...	ORPHA:66529
Neonatal Alloimmune Neutropenia	Pneumonia, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Recurrent sinusitis, Recurrent mening...	OMIM:610984
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis	OMIM:613021
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Fusariosis	Pneumonia, Keratitis, Granuloma, Brain abscess, Fasciitis, Osteomyelitis, Abnormality of the sple...	ORPHA:228119
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent viral infections, Chronic mucocutaneous candidiasis, Recurrent protozoan infections, Re...	ORPHA:572
Pemphigus Vulgaris	Autoimmunity, Anti-desmoglein-1 antibody positivity, Anti-desmoglein-3 antibody positivity, Recur...	ORPHA:704
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Hepatosplenomegaly, Intersti...	OMIM:615952
Good Syndrome	Thymoma, Decreased circulating antibody level, Fatigable weakness, Abnormal leukocyte morphology,...	ORPHA:169105
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis	OMIM:145001
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Squamous cell carcinoma of the skin, Lymph...	OMIM:620443
Pneumocystosis	Neoplasm, Interstitial pneumonitis, Pleural effusion, Increased circulating antibody level, Multi...	ORPHA:723
Rigid Spine Syndrome	Pneumonia	ORPHA:97244
Narcolepsy 3	Narcolepsy	OMIM:609039
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased...	OMIM:619510
Hereditary Chronic Pancreatitis	Pancreatic calcification, Jaundice, Recurrent pancreatitis	ORPHA:676
Obesity Due To Sim1 Deficiency	Hypotension, Postural hypotension with compensatory tachycardia	ORPHA:369873
Staphylococcal Necrotizing Pneumonia	Shock, Hypotension, Hypoxemia	ORPHA:36238
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan...	ORPHA:31205
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hypocalcemia, Hyperammonemia, Elevated circulating c...	ORPHA:26793
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Chronic bronchitis...	OMIM:242860
Ciliary Dyskinesia, Primary, 45	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Retinal Dystrophy And Microvillus Inclusion Disease	Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc...	OMIM:619446
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections	OMIM:202700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Placental Insufficiency	Hypoxemia	ORPHA:439167
Leptospirosis	Hyperproteinemia, Thrombocytopenia	ORPHA:509
Cach Syndrome	Optic neuritis, Hepatosplenomegaly, Pancreatitis	ORPHA:135
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent mycobacterial infections, Invasive fungal infection, Chronic mucocutaneous candidiasis,...	ORPHA:98813
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fungal infectio...	ORPHA:169090
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th...	OMIM:102700
Scedosporiosis	Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, Pulmonar...	ORPHA:449280
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir...	OMIM:610910
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Ciliary Dyskinesia, Primary, 17	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:614679
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis	ORPHA:27
Cutaneous Neuroendocrine Carcinoma	Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi...	ORPHA:79140
Bacterial Toxic-Shock Syndrome	Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Elevated circulating creat...	ORPHA:36234
Ciliary Dyskinesia, Primary, 11	Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Recurrent respiratory infections, Bron...	OMIM:612649
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele...	OMIM:619611
Specific Granule Deficiency 1	Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections	OMIM:245480
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Hypouricemia, Recurrent upper respiratory tract infections, Lymphoma, Pure red cell ap...	OMIM:613179
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Cyanosis, Elevated pulmonary ...	ORPHA:199241
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent ...	OMIM:601495
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A...	ORPHA:103918
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Leukocytosis, Splenomegaly, Elevated circulating creatine kinase concentration, Anemia, Hypoprote...	OMIM:615895
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B...	ORPHA:922
Familial Multinodular Goiter	Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi...	ORPHA:276399
Immunodeficiency, Common Variable, 6	Recurrent bacterial infections, Recurrent respiratory infections	OMIM:613496
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Inf...	OMIM:307200
Sarcoidosis, Susceptibility To, 2	Pulmonary arterial hypertension, Hypoxemia	OMIM:612387
Leukocyte Adhesion Deficiency, Type I	Chronic mucocutaneous candidiasis, Recurrent gram-negative bacterial infections, Recurrent bacter...	OMIM:116920
Ciliary Dyskinesia, Primary, 35	Recurrent pneumonia, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis	OMIM:617092
Acute Interstitial Pneumonia	Hypoxemia, Hypertension, Cyanosis	ORPHA:79126
Cryptogenic Organizing Pneumonia	Hypoxemia, Cyanosis	ORPHA:1302
Specific Granule Deficiency 2	Recurrent otitis media, Recurrent pneumonia, Sepsis, Recurrent bacterial infections	OMIM:617475
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Ciliary Dyskinesia, Primary, 24	Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:615481
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Squamous cell carcinoma of the skin, Lymphopenia, Myelodysplasia, Thrombocytopenia, An...	OMIM:620365
Systemic-Onset Juvenile Idiopathic Arthritis	Autoimmunity, Skin rash, Splenomegaly, Arthritis, Hepatomegaly, Juvenile rheumatoid arthritis, Pe...	ORPHA:85414
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia, Gliosis	OMIM:608033
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis	ORPHA:435651
Immunodeficiency 56	Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent sinusitis, Chron...	OMIM:615207
Avian Influenza	Pneumonia, Hypoalbuminemia, Myelitis, Hepatitis, Lymphopenia, Leukopenia, Pleural effusion, Infec...	ORPHA:454836
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233710
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Recurrent upper respiratory tract infections, Absent natural killer cells, Panhypogamm...	OMIM:600802
Agammaglobulinemia, X-Linked	Recurrent otitis media, Prostatitis, Neutropenia, Bronchiolitis obliterans, Recurrent lower respi...	OMIM:300755
Ciliary Dyskinesia, Primary, 26	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:615500
Legionnaires Disease	Hepatitis, Splenomegaly, Infectious encephalitis, Pancreatitis, Myocarditis, Jaundice, Endocardit...	ORPHA:549
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypoxemia	ORPHA:79127
Apc-Related Attenuated Familial Adenomatous Polyposis	Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ...	ORPHA:247806
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Bronchiectasis With Or Without Elevated Sweat Chloride 1	Bronchiectasis, Chronic bronchitis	OMIM:211400
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Pancreatitis	OMIM:145980
Diffuse Alveolar Hemorrhage	Hypoxemia, Pulmonary venous hypertension	ORPHA:90060
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi...	OMIM:608647
Immunodeficiency 58	Allergic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent pneumo...	OMIM:618131
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Ciliary Dyskinesia, Primary, 32	Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br...	OMIM:616481
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
Pericardial And Diaphragmatic Defect	Hypoxemia, Palpitations, Mitral stenosis	ORPHA:2847
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis	OMIM:614017
Propionic Acidemia	Hepatomegaly, Pancreatitis, Eczematoid dermatitis	OMIM:606054
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Immunodeficiency 10	Recurrent pneumonia, Sepsis, Recurrent urinary tract infections, Recurrent otitis media, Recurren...	OMIM:612783
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac...	OMIM:602450
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Omenn Syndrome	Pneumonia, Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia, Er...	ORPHA:39041
Ciliary Dyskinesia, Primary, 34	Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis	OMIM:617091
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Klebsiella infections, Recurrent pneumonia, Recurrent Burkholderia cepacia infections, ...	OMIM:233690
Yellow Nail Syndrome	Biliary tract neoplasm, Recurrent respiratory infections, Neoplasm, Sarcoma, Sinusitis, Renal neo...	ORPHA:662
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He...	ORPHA:39812
Ciliary Dyskinesia, Primary, 43	Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe...	OMIM:618699
Ciliary Dyskinesia, Primary, 12	Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron...	OMIM:612650
Johanson-Blizzard Syndrome	Anemia, Hypoproteinemia	ORPHA:2315
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Ciliary Dyskinesia, Primary, 14	Recurrent pneumonia, Polysplenia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent ...	OMIM:613807
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia	OMIM:608093
Ciliary Dyskinesia, Primary, 13	Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis	OMIM:613193
Systemic Capillary Leak Syndrome	Myocarditis, Pancreatitis, Pericarditis	ORPHA:188
Narcolepsy 1	Narcolepsy	OMIM:161400
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters...	OMIM:616433
Bloom Syndrome	Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-...	ORPHA:125
Ciliary Dyskinesia, Primary, 7	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis	OMIM:611884
Microsporidiosis	Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Abnormality of the spleen, Osteomyelit...	ORPHA:2552
Gardner Syndrome	Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ...	ORPHA:79665
Primary Pulmonary Hypoplasia	Hypoxemia, Cyanosis	ORPHA:2257
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Pancreatitis, Hepatic steatosis	ORPHA:2348
Malignant Hyperthermia Of Anesthesia	Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac...	ORPHA:423
Ciliary Dyskinesia, Primary, 1	Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis...	OMIM:244400
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Hypothyroidism, Iridocyclitis, Pancreatitis	ORPHA:412057
Pparg-Related Familial Partial Lipodystrophy	Splenomegaly, Hepatic steatosis, Cirrhosis, Pancreatitis, Hepatomegaly	ORPHA:79083
Ciliary Dyskinesia, Primary, 15	Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent res...	OMIM:613808
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Splenomegaly, Hypocalcemia	OMIM:235255
Aicardi-Goutieres Syndrome 6	Increased circulating Interferon-alpha concentration	OMIM:615010
Hypocalciuric Hypercalcemia, Familial, Type Ii	Pancreatitis, Primary hyperparathyroidism	OMIM:145981
Pauci-Immune Glomerulonephritis	Arteritis, Cytoplasmic antineutrophil antibody positivity, Scleritis, Antinuclear antibody positi...	ORPHA:93126
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Hepatosplenomegaly, Autoimmunity, Porta...	ORPHA:171
Allergic Bronchopulmonary Aspergillosis	Emphysema, Abnormal eosinophil morphology, Bronchiectasis	ORPHA:1164
Pigmented Nodular Adrenocortical Disease, Primary, 2	Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level	OMIM:610475
Ciliary Dyskinesia, Primary, 51	Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis	OMIM:620438
Ciliary Dyskinesia, Primary, 19	Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ...	OMIM:614935
Mu-Heavy Chain Disease	Anemia, Abnormal B cell count, Splenomegaly	ORPHA:100024
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Acquired Generalized Lipodystrophy	Autoimmunity, Hepatic steatosis, Cirrhosis, Hepatomegaly, Panniculitis, Acute pancreatitis	ORPHA:79086
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Oxygen desaturation on exertion, Hypoxemia	OMIM:610978
Mitochondrial Complex I Deficiency, Nuclear Type 33	Aspiration pneumonia, Hyperammonemia, Neutropenia, Bronchiectasis, Simplified gyral pattern	OMIM:618253
Immunodeficiency 12	Recurrent aphthous stomatitis, Complete or near-complete absence of specific antibody response to...	OMIM:615468
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Antineutrophil antibody positivity, Hepatitis, Hepatosplenomegaly, Hypersplenism, Portal hyperten...	ORPHA:228426
Narcolepsy 7	Narcolepsy	OMIM:614250
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Cyanosis, Hypoxemia, Systolic heart murmur	ORPHA:555874
Idiopathic Chronic Eosinophilic Pneumonia	Hypoxemia	ORPHA:2902
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Inflammation of the large intestine, Cholestasis, Interface hepatitis,...	ORPHA:562639
Ataxia-Telangiectasia	Elevated circulating alpha-fetoprotein concentration, Dysdiadochokinesis, Inability to walk, Lymp...	OMIM:208900
Maple Syrup Urine Disease, Type Ia	Pancreatitis	OMIM:248600
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia	OMIM:619057
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Schimke Immuno-Osseous Dysplasia	Minimal change glomerulonephritis, Abnormality of thyroid physiology, Autoimmunity, Pancreatitis	ORPHA:1830
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Recurrent respiratory infections, Bronchiectasis	OMIM:619468
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Elevated circulating C-re...	OMIM:619381
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatosplenomegaly, Hypoproteinemia, Splenomegaly, Hypocalcemia	ORPHA:1655
Adult-Onset Still Disease	Neutrophilia, Hepatitis, Abnormal circulating lipid concentration, Increased circulating ferritin...	ORPHA:829
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Hepatomegaly, Pancreatitis	OMIM:251000
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypocellularity, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive hel...	ORPHA:3261
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Bronchitis, Hepatitis, Emphysema, Pannicul...	ORPHA:60
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia	OMIM:619971
Ventilator-Induced Diaphragmatic Dysfunction	Hypercapnia	ORPHA:505395
Ciliary Dyskinesia, Primary, 38	Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis	OMIM:618063
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Elevated...	ORPHA:1304
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Tachycardia, Intracranial hemorrhag...	ORPHA:449285
Igg4-Related Kidney Disease	Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Abn...	ORPHA:449395
Sickle Cell Disease	Hypertension, Hypoxemia	OMIM:603903
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pancreatitis, Hepatic steatosis	OMIM:236200
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis	ORPHA:747
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections	OMIM:619693
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio...	ORPHA:980
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L...	ORPHA:139402
Eisenmenger Syndrome	Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, Palpitations, Supraventr...	ORPHA:97214
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly	OMIM:620296
Immunodeficiency 77	Bronchiectasis, Cutaneous abscess	OMIM:619223
Congenital Syphilis	Pneumonia, Keratitis, Hepatosplenomegaly, Synovitis, Prolonged neonatal jaundice, Pancreatitis, M...	ORPHA:499009
Oculopharyngodistal Myopathy 1	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Aspiration, ...	OMIM:164310
Lymphoid Interstitial Pneumonia	Raynaud phenomenon, Hypoxemia, Pulmonary venous hypertension	ORPHA:79128
Analbuminemia	Hypotension	OMIM:616000
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia, Hamartoma	OMIM:300484
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Sepsis	OMIM:612840
Mirizzi Syndrome	Cholelithiasis, Pancreatitis, Abnormal ductus choledochus morphology, Gallbladder perforation, Ja...	ORPHA:521219
Timothy Syndrome	Pneumonia, Patent ductus arteriosus, Bronchitis, Hypocalcemia	OMIM:601005
Immunodeficiency 25	Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia	OMIM:610163
Igg4-Related Thyroid Disease	Graves disease, Anti-thyroglobulin antibody positivity, Autoimmunity, Sclerosing cholangitis, Has...	ORPHA:64744
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Chronic m...	ORPHA:79124
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem...	OMIM:620430
Aregenerative Anemia	Bone marrow hypocellularity, Fatigable weakness of skeletal muscles, Pancytopenia, Decreased prop...	ORPHA:101096
Caroli Syndrome	Intrahepatic cholestasis, Hypersplenism, Portal hypertension, Congenital hepatic fibrosis, Abnorm...	ORPHA:480520
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Squamous cell carcinoma of the skin, Melanoma, Basal cell carcinoma, Conjunctivitis	OMIM:278740
Immunodeficiency 23	Allergic rhinitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Increased circulatin...	OMIM:615816
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the skin, Lymphope...	OMIM:127550
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis...	OMIM:615444
Ciliary Dyskinesia, Primary, 30	Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ...	OMIM:616037
Proteasome-Associated Autoinflammatory Syndrome 2	Recurrent bacterial infections, Recurrent viral infections	OMIM:618048
Pyruvate Dehydrogenase E1-Alpha Deficiency	Polymicrogyria, Gliosis, Cerebellar gliosis, Recurrent aspiration pneumonia, Increased serum pyru...	ORPHA:79243
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypertension	OMIM:611489
Cystic Fibrosis	Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch...	OMIM:219700
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia, Fatigable weakness of bulbar muscles	ORPHA:98897
Achondroplasia	Hypoxemia	ORPHA:15
Q Fever	Pneumonia, Granuloma, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Pleural effusion, Cholecystit...	ORPHA:781
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Severe varicella zoster infection, Recurrent viral infections, Recurrent fungal infections, Recur...	OMIM:606367
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia, Astrocytosis, Gliosis	ORPHA:204
Familial Chylomicronemia Syndrome	Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Perianal abscess, Jaundice, Acute ...	ORPHA:444490
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Bronchitis, Decreased circulatin...	ORPHA:420741
Nipah Virus Disease	Hypotension	ORPHA:99825
Glycogen Storage Disease Ib	Inflammation of the large intestine, Gout, Splenomegaly, Pancreatitis, Pancreatic fibrosis, Hepat...	OMIM:232220
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Cutaneous melanoma, Squamous cell carcinoma of the skin, Actinic keratosis, Basal cell...	OMIM:278720
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricular contraction, Ventricul...	OMIM:212138
Rh Deficiency Syndrome	Tachycardia, Hypoxemia	ORPHA:71275
Congenital Disorder Of Glycosylation, Type Iif	Recurrent bacterial infections	OMIM:603585
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia	ORPHA:2590
Mitochondrial Complex I Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Hypercapnia	OMIM:618222
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Hepatosplenomegaly, Portal hypertension, Hepatic steatosis, Chilblains, Hypothy...	OMIM:619487
Shwachman-Diamond Syndrome	Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo...	ORPHA:811
Immunodeficiency With Hyper-Igm, Type 1	Pneumocystis carinii pneumonia, Sepsis, Enteroviral encephalitis, Meningitis, Recurrent bacterial...	OMIM:308230
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce...	ORPHA:331206
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