Gene Summary

polymerase (DNA directed), beta
Pol beta,  A430088C08Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Polbtm1a(KOMP)Wtsi HET Early adult 1.04×10-06
increased mean platelet volume Polbtm1a(KOMP)Wtsi HET Early adult 2.85×10-07
preweaning lethality, complete penetrance Polbtm1a(KOMP)Wtsi HOM   Early adult 0.00
decreased total body fat amount Polbtm1a(KOMP)Wtsi HET Early adult 3.89×10-05

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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.


XRay Images Whole Body Dorso Ventral

14 Images


XRay Images Whole Body Lateral Orientation

14 Images


XRay Images Skull Dorso Ventral Orientation

14 Images


XRay Images Forepaw

14 Images


XRay Images Skull Lateral Orientation

14 Images

Legacy Phenotype Associated Images

View all 70 images

Human diseases caused by Polb 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.

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

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

Disease Similarity of
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Decreased serum complement factor I, Membranoprolifer... OMIM:613652
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, ... OMIM:617006
Idiopathic Non-Lupus Full-House Nephropathy
Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Decreased serum compleme... ORPHA:567544
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Systemic lupus erythematosus, Decreased serum complement C3, Membranoprolifer... OMIM:613779
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-... OMIM:615559
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia, Autoimmune hemolytic anemia OMIM:247800
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Kimura Disease
Abnormal salivary gland morphology, Increased circulating IgE level, Lymphadenopathy, Follicular ... ORPHA:482
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Immunodeficiency 64
Anti-thyroid peroxidase antibody positivity, Defective T cell proliferation, Mediastinal lymphade... OMIM:618534
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Nephrotic syndrome, Lymphadenitis, Lymphadenopathy, Rheumatoid factor positive, Recurrent... OMIM:618935
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, L... OMIM:619220
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmunity, Abnormal B cell count, Decreased circulating antibody level, Decreased proportion o... ORPHA:331206
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Abnormal intestine morphology, Lymphadenopathy, Recurrent otitis media, Splenomegal... OMIM:618495
Combined Immunodeficiency Due To Zap70 Deficiency
Nephrotic syndrome, Stomatitis, Lymphadenitis, Pneumonia, Chronic oral candidiasis, Decreased lym... ORPHA:911
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Decreased specific pneumococcal antibody level, Mesangial ... OMIM:613496
Immunodeficiency 25
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:610163
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... OMIM:619201
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Deep dermal perivascular inflammatory infiltrate, Autoimmune an... ORPHA:90283
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits ORPHA:69063
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Hypoplasia of the corpus ca... OMIM:619466
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Celiac disease, Lymphadenopathy, Systemic lupus erythematosus, Splenomegaly, Autoimmune thrombocy... OMIM:619375
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Bronchiectasis, Lymphadenopathy, Recurrent otitis media, Increased c... OMIM:618982
Complement Component 4A Deficiency
Decreased serum complement C4, Reduced hemolytic complement activity, Glomerulonephritis, Systemi... OMIM:614380
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Lymphadenopathy, Recurrent cutan... ORPHA:499
Asbestos Intoxication
Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de... ORPHA:2302
Selective Igm Deficiency
Autoimmunity, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Ly... ORPHA:331235
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Lymphadenopathy, Rheumatoid factor positive, Chronic kidney disease... ORPHA:449395
Autoimmune Lymphoproliferative Syndrome
Platelet antibody positive, Follicular hyperplasia, Neutropenia in presence of anti-neutropil ant... OMIM:601859
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Nephritis, Arthritis, Complement deficiency OMIM:216950
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Hyper-Igd Syndrome
Increased circulating IgD level, Vomiting, Lymphadenitis, Increased circulating IgA level, Chroni... OMIM:260920
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... OMIM:613953
C3 Glomerulopathy
Autoimmunity, C3 nephritic factor positivity, Nephrotic syndrome, Decreased serum complement C4, ... ORPHA:329918
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Intrauterine growth retardation, Redundant skin, Neonatal death OMIM:301021
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Tubulointerstitial Nephritis With Uveitis
Reversible renal failure, Circulating immune complexes, Anterior uveitis, Panuveitis, Abnormality... OMIM:607665
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Hematuria, Glomerulonephritis OMIM:314000
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Autoimmunity, Cholangitis, Prostatitis, Xerostomia, Abnormal ... ORPHA:449432
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Epididymitis, ... OMIM:608106
C3 Glomerulopathy 3
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis OMIM:614809
Rat-Bite Fever
Myocarditis, Pericarditis, Pustule, Vomiting, Endocarditis, Lymphadenitis, Oligoarthritis, Arthri... ORPHA:31205
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Death in infancy, Desquamative interstitial pneumonitis, Nonspecif... OMIM:610921
Systemic Lupus Erythematosus
Lupus nephritis, Pericarditis, Systemic lupus erythematosus, Nephritis, Arthritis, Malar rash, An... OMIM:152700
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Systemic lupus erythe... ORPHA:90280
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Subpleural honeycombing, Crackles, Bronchie... ORPHA:79126
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anti-glutamic acid decarboxylase antibody positivity, Eczema, Villous atrophy, Erythroderma, Lymp... OMIM:304790
Immunodeficiency 27A
Enlarged mesenteric lymph node, Pneumonia, Lymphadenopathy, Salmonella osteomyelitis, Rheumatoid ... OMIM:209950
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le... OMIM:607271
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Sinusitis, Inflammatory abnormality of... ORPHA:277
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Death in infancy, Desquamative interstitial pneumonitis, Tachypnea... OMIM:265120
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased circulating IgG level, Recurren... OMIM:618944
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Septic arthritis OMIM:612260
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis ORPHA:90156
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Stillbirth OMIM:265880
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Immunodeficiency, Common Variable, 2
Autoimmunity, Follicular hyperplasia, Bronchiectasis, Decreased circulating IgA level, Impaired T... OMIM:240500
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Abnormal oral mucosa morphology... ORPHA:79147
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage fluid lymphocy... OMIM:610978
Nephrotic Syndrome, Type 15
Stage 5 chronic kidney disease, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome OMIM:617609
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Pneumonia, Lymphadenopathy, Splenomegaly, Otitis media, Oral ulcer, Diarrhea OMIM:608971
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Abnormal serum interleukin level, Pneumonia ORPHA:319552
Neutropenia, Chronic Familial
Periodontitis, Gingivitis, Premature loss of teeth, Increased circulating antibody level OMIM:162700
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Cerebral dysmyel... OMIM:611722
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... OMIM:615872
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Intrauterine growth retardation, Atelectasis, Transient pulmonary infiltrate... ORPHA:70588
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneu... ORPHA:2902
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... ORPHA:3261
Autoimmune Hepatitis
Inflammation of the large intestine, Sclerosing cholangitis, Antineutrophil antibody positivity, ... ORPHA:2137
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... OMIM:606843
Actinic Prurigo
Cheilitis, Glomerulonephritis, Pyoderma OMIM:174770
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Erythroderma, Lymphadenopathy, Increased circulating IgA level, Decreased lymphocyte... ORPHA:169154
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Polycystic ovaries, Decreased serum complement C3, Membranoprolife... OMIM:608709
Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis ORPHA:238459
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Eczematoid dermatitis, Lymphadenitis, Lymphadenopathy, Discoid lupus rash, Osteomyelitis, Splenom... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Eczematoid dermatitis, Lymphadenitis, Lymphadenopathy, Discoid lupus rash, Osteomyelitis, Splenom... OMIM:233710
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Decreased circulating total IgA, Pneumonia, Protracted diarrhea, Chronic oral candi... ORPHA:169160
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Marfanoid Habitus With Microcephaly And Glomerulonephritis
High, narrow palate, Glomerulonephritis, High palate, Renal insufficiency OMIM:248760
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Lymphadenopathy... OMIM:616100
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Splenomegaly, Panhypogammaglobulinemia, Diarrhea OMIM:269840
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Decreased serum complement C3, Membranoproliferative glomeruloneph... OMIM:613913
Pseudo-Torch Syndrome 3
Leukocytosis, Death in infancy, Lymphadenitis, Anemia, Acute kidney injury, Congenital thrombocyt... OMIM:618886
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Cough, Recurrent lowe... OMIM:616726
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Cyanosis, Respiratory tract infection, Pulmonary edema, Respirat... ORPHA:70587
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Lymphadenitis, Lymphadenopathy, Discoid lupus rash, Osteomyelitis, Splenom... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Eczematoid dermatitis, Lymphadenitis, Lymphadenopathy, Discoid lupus rash, Osteomyelitis, Splenom... OMIM:233690
Pulmonary Blastoma
Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Death in infancy, Intermittent diarrhea, Nephrotic syndrome, Monocytosis, Lymphaden... OMIM:619644
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Severe Combined Immunodeficiency, X-Linked
Agammaglobulinemia, Pneumonia, Decreased circulating IgA level, Hypoplasia of the thymus, Chronic... OMIM:300400
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Intrauterine growth retardation, Growth delay, Severe short statur... OMIM:619057
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... OMIM:267450
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Cyanosis, Recurren... OMIM:263000
Immunodeficiency, Common Variable, 1
Pneumonia, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, Decreased circul... OMIM:607594
Rowley-Rosenberg Syndrome
Growth delay, Pulmonary arterial hypertension, Reduced subcutaneous adipose tissue, Recurrent pne... OMIM:268500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, Lymphadenopathy, Hepatosplenomegaly, Hemolytic anemia, Enlarged tonsils, Autoimmune hemol... OMIM:606367
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Increased circulating IgA level, Rheumatoid factor positive, Increased circulatin... OMIM:619632
Igg4-Related Pachymeningitis
Sinusitis, Dysphagia, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Pancreatitis, P... ORPHA:449427
Lymphatic Filariasis
Lymphangiectasis, Vaginal hydrocele, Nephrotic syndrome, Lymphadenitis, Lymphadenopathy, Knee ost... ORPHA:2035
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis, High palate ORPHA:2172
Pulmonary Nodular Lymphoid Hyperplasia, Familial
IgA deposition in the glomerulus, Systemic lupus erythematosus, Increased circulating antibody le... OMIM:178610
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Complement Factor I Deficiency
Sinusitis, Decreased serum complement factor H, Recurrent otitis media, Pyelonephritis, Arthritis... OMIM:610984
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Abnormal intestine morphology, Eczema,... ORPHA:37042
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Diarrhea, Jaundice, Absent tonsils, Lymph node hypo... ORPHA:276
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood, Microcephaly, Severe short stature OMIM:302000
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Pityriasis Rubra Pilaris
Abnormal oral cavity morphology, Eczema, Erythroderma, Pustule, Pruritus ORPHA:2897
Igg4-Related Thyroid Disease
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Dysphagia, Goiter, Nodular goiter, Inc... ORPHA:64744
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Complete o... OMIM:613494
Transcobalamin Deficiency
Neutropenia, Abnormality of chromosome stability, Methylmalonic aciduria, Decreased circulating I... ORPHA:859
Nephrotic Syndrome, Type 11
Renal tubular atrophy, Focal segmental glomerulosclerosis, Smooth philtrum, Cleft palate, High pa... OMIM:616730
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Erythroderma, Villous atrophy, Pustule, Duodenitis, Increased circulating IgE le... OMIM:614328
Candidiasis, Familial, 2
Lymphadenopathy, Increased circulating IgE level, Chronic oral candidiasis, Deep dermatophytosis OMIM:212050
Boutonneuse Fever
Nausea, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Maculo... ORPHA:83313
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough ORPHA:60026
Autoimmunity, Lactose intolerance, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil... ORPHA:443811
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Sting-Associated Vasculopathy, Infantile-Onset
Pustule, Myositis, Increased circulating IgA level, Paratracheal lymphadenopathy, Rheumatoid fact... OMIM:615934
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Honeycomb lung, Chronic pulmonary obstruction, Chronic bronchitis, Bronchiec... ORPHA:79127
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Crescentic glomerulonephritis, Antinuclear antibody positivity, Arthritis, Mesangial hypercellula... OMIM:616414
Immunodeficiency 85 And Autoimmunity
Eczema, Villous atrophy, Erythroderma, Vomiting, Decreased circulating IgA level, Oligoarthritis,... OMIM:619510
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets, Congenital thromboc... ORPHA:182050
Brain abscess, Cholangitis, Sinusitis, Myocarditis, Hepatitis, Abnormality of the urinary system ... ORPHA:2552
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ... ORPHA:79078
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Abnormal eosinophil morphology... ORPHA:724
Omenn Syndrome
Leukocytosis, Hepatomegaly, Autoimmunity, Erythroderma, Nephrotic syndrome, Pneumonia, Lymphadeno... ORPHA:39041
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Complement Component 5 Deficiency
Decreased serum complement C5, Reduced hemolytic complement activity, Generalized seborrheic derm... OMIM:609536
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating antibody level, Recurrent skin infections OMIM:617744
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Atelectasis, Recurrent bronchitis OMIM:300455
Abnormality of the spleen, Splenic abscess, Unusual skin infection, Pneumonia, Prostatitis, Abnor... ORPHA:31202
Galloway-Mowat Syndrome 7
Renal tubular atrophy, Eczema, Smooth philtrum, Cleft palate, High palate, Minimal change glomeru... OMIM:618348
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:605258
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Lymphadenopathy, Recurrent otitis media, Systemic lupus erythematosus, Hepatitis, S... ORPHA:444463
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis... ORPHA:69126
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati... OMIM:617765
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Cough, Tremor, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilation, ... ORPHA:90117
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Hypoplasia of the corpus callosum, Respiratory insufficiency, Cerebral corti... OMIM:616081
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Lymphadenopathy, Abnormal renal physiology, Decreased circulating antibody level, Sp... ORPHA:540
Whim Syndrome
Sinusitis, Abnormality of the small intestine, Pneumonia, Bronchiectasis, Lymphadenitis, Decrease... ORPHA:51636
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... ORPHA:3348
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Bronchiectasis, Lymphadenopathy, Splenomegaly, In... OMIM:615513
Fechtner syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:153640
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus ORPHA:330064
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Colonic eosinophilia, Hepatospleno... OMIM:618999
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Pruritus, Systemic lupus erythematosus, Hyperthyroidism, Rheumatoid arthri... ORPHA:48377
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Growth delay, Apnea, Tremor, Cerebral atrophy, Respiratory failure, Secondary m... OMIM:617248
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Bullous Impetigo
Pustule, Abnormality of the lymphatic system, Septic arthritis, Recurrent bacterial skin infectio... ORPHA:36237
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity OMIM:613495
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level, Antinuclear antibody positivity ORPHA:90159
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Igg4-Related Aortitis
Autoimmunity, Hydronephrosis, Increased circulating IgG4 level, Cytoplasmic antineutrophil antibo... ORPHA:449400
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, B... ORPHA:1303
Immunodeficiency 50
Recurrent urinary tract infections, Eczema, Decreased circulating antibody level OMIM:300988
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Erythroderma, Tubulointerstitial nephritis, Infectious encephalitis, Nephrotic syndr... ORPHA:139402
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Mucoid diarrhea, Decreased circulating IgG level, Crohn's di... OMIM:615767
Insulin Autoimmune Syndrome
Autoimmunity, Arthralgia/arthritis, Systemic lupus erythematosus, Autoimmune antibody positivity,... ORPHA:411593
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... ORPHA:723
Systemic Lupus Erythematosus 16
Nephritis, Systemic lupus erythematosus OMIM:614420
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Recurrent upper respir... ORPHA:922
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Cerebral atrophy, Tremor OMIM:618637
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Ground-glass opacification, ... ORPHA:1302
Galloway-Mowat Syndrome 2, X-Linked
High palate, Minimal change glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Stage 5... OMIM:301006
Simple Cryoglobulinemia
Pericarditis, Monoclonal elevation of circulating IgA, Nephrotic syndrome, Monoclonal immunoglobu... ORPHA:91139
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Ground-glass opacification, Cough, Pulmonary infiltrate... ORPHA:99931
Lethal Osteosclerotic Bone Dysplasia
Intrauterine growth retardation, Respiratory distress, Respiratory failure, Dyspnea, Microcephaly ORPHA:1832
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency, Short stature ORPHA:2901
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Increased circulating antibody level, Skin rash OMIM:618048
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Recurrent respiratory infections, Decreased ... OMIM:610910
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Osteomyelitis, Autoimmune thrombocytopenia, Impaired Ig class switch recombinatio... OMIM:608184
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Ground-glass opacification, Cough, Respiratory distress, Cyanosis, Intercos... ORPHA:91359
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Erythroderma, Pneumonia, Lymphadenopathy, Hypoplasia of the thym... OMIM:603554
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Polymicrogyria, Respiratory failure, Hypoplasia... OMIM:618291
Immunodeficiency, Common Variable, 3
Reduced isohemagglutinin level, Decreased circulating IgA level, Recurrent otitis media, Decrease... OMIM:613493
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Neonatal death, Abnormal anterior horn cell mor... OMIM:611890
Pemphigus Foliaceus
Autoimmunity, Psoriasiform dermatitis, Erythroderma, Pustule, Pruritus, Abnormal oral mucosa morp... ORPHA:79481
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... ORPHA:93126
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:656
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Perinuclear ant... OMIM:618394
Pelger-Huet Anomaly
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... OMIM:169400
Immunodeficiency 23
Eczema, High palate, Neutropenia, Allergic rhinitis, Bronchiectasis, Abscess, Increased circulati... OMIM:615816
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Pneumonia OMIM:312863
Sézary Syndrome
Erythroderma, Lymphadenopathy, Abnormal immunoglobulin level, Pruritus, Splenomegaly ORPHA:3162
Autoimmunity, Abnormal lymphocyte proliferation, Anti-acetylcholine receptor antibody positivity,... ORPHA:99867
Immunodeficiency 70
Decreased circulating total IgA, Celiac disease, Decreased circulating total IgG, Decreased circu... OMIM:618969
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Immunodeficiency With Hyper-Igm, Type 1
Stomatitis, Decreased circulating IgA level, Impaired memory B cell generation, Hepatitis, Decrea... OMIM:308230
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circulating IgG level, Pun... OMIM:617388
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Autoimmunity, Abnormal intestine morphology, Neutropen... ORPHA:1830
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... ORPHA:266
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase, Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating IgG level, Decreased circulating total IgM OMIM:618987
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Autoimmunity, Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, S... OMIM:614470
Immunodeficiency, Common Variable, 10
Anti-thyroid peroxidase antibody positivity, Pyloric stenosis, Psoriasiform dermatitis, Central a... OMIM:615577
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Neuronal loss in the cerebral cortex, Central sleep apnea, ... ORPHA:168486
Breath-Holding Spells
Cyanosis, Pallor OMIM:607578
X-Linked Lymphoproliferative Disease
Myocarditis, Autoimmunity, Inflammation of the large intestine, Lymphadenopathy, Decreased circul... ORPHA:2442
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating Ig... ORPHA:275
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Respiratory insufficiency, Abnormal cerebral white matter morpho... OMIM:615330
Igg4-Related Retroperitoneal Fibrosis
Anti-thyroid peroxidase antibody positivity, Rheumatoid factor positive, Ureteropelvic junction o... ORPHA:49041
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Abnormality of chromosome stability, Decreased circulating antibody level, Polycystic ovaries, Ab... ORPHA:100
Alopecia-Intellectual Disability Syndrome 4
Hypospadias, Bilateral cryptorchidism, Micropenis, Erythroderma OMIM:618840
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Corneodermatoosseous Syndrome
Abnormality of the dentition, Hypomature dental enamel, Erythroderma OMIM:122440
Immunodeficiency 54
Chromosome breakage, Hepatomegaly, Adrenal insufficiency, Lymphadenopathy, Splenomegaly, Reduced ... OMIM:609981
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... ORPHA:100024
Retinitis Pigmentosa 42
Pallor OMIM:612943
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress OMIM:614399
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Widely spaced teeth, Eczema, Microdontia OMIM:233810
Netherton Syndrome
Eczema, Hydronephrosis, Erythroderma, Decreased circulating antibody level, Malabsorption, Increa... ORPHA:634
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Abscess... ORPHA:400
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Dermatitis, Atopic
Allergic rhinitis, Asthma, Facial erythema, Dry skin, Pallor OMIM:603165
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Immunodeficiency 58
Eczema, Allergic rhinitis, Dysphagia, Decreased specific antibody response to vaccination, Recurr... OMIM:618131
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Neonatal death, Apnea, Cerebral atrophy, Respiratory failure, Microcep... OMIM:610127
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Intrauterine growth retardation,... ORPHA:2257
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Intrauterine growth retardation, Respiratory insufficiency, Growth... OMIM:245400
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Microcephaly OMIM:225753
Mediastinal lymphadenopathy, Cervical lymphadenopathy, Pneumonia, Lymphadenopathy, Increased circ... ORPHA:3392
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Infectious encephalitis, Lymphadenopathy, Reduced natural killer cell ... OMIM:308240
Netherton Syndrome
Abnormal intestine morphology, Allergic rhinitis, Villous atrophy, Erythroderma, Decreased circul... OMIM:256500
Immunodeficiency 17
Recurrent otitis media, Abnormal intestine morphology, Eczema, Autoimmune hemolytic anemia OMIM:615607
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency 52
Death in infancy, Bronchiectasis, Lymphadenopathy, Increased proportion of gamma-delta T cells, C... OMIM:617514
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Hepatomegaly, Erythroderma, Vomiting, Elevated total serum tryptase, L... ORPHA:79456
Autoimmune Hemolytic Anemia, Cold Type
Dyspnea, Pallor ORPHA:228312
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Van Der Woude Syndrome
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... ORPHA:888
Cirrhosis, Familial
Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Acute Myelomonocytic Leukemia
Dyspnea, Pallor, Eosinophilia ORPHA:517
Immunodeficiency 66
Defective T cell proliferation, Recurrent skin infections, Pustule OMIM:618847
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Pulmonary pneumatocele, Cough, Pleural empyema, Re... ORPHA:36238
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Rheumatoid factor positive, Septic arthritis, ... ORPHA:1304
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, High palate, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic... OMIM:618282
Chiari Malformation Type Ii
Opisthotonus, Myelomeningocele, Cyanosis, Spina bifida, Hydrocephalus, Gray matter heterotopia, A... OMIM:207950
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Pulmonary situs ambiguus, Bronchiectas... ORPHA:244
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Failure to thrive OMIM:617718
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Rheumatoid factor positive, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Ant... OMIM:618852
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Abnormal eosin... ORPHA:1164
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Autoimmunity, Leukopenia, Pneumonia, Increased circulating Ig... ORPHA:2298
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmo... ORPHA:199241
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Intrauterine growth retardation, Opisthotonus, Polymicrogyria, Respiratory fail... OMIM:610678
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Cough, Aspiration, Cyanosis, Recurrent respiratory infect... ORPHA:2004
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Oral ulcer, Colitis, He... OMIM:613148
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Retinitis Pigmentosa 81
Pallor OMIM:617871
Familial Focal Epilepsy With Variable Foci
Hemimegalencephaly, Polymicrogyria, Flushing, Focal cortical dysplasia, Pallor ORPHA:98820
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial morphology... ORPHA:178320
Iga Pemphigus
Pustule, Increased circulating IgA level, Pruritus, Neutrophilic infiltration of the skin, Autoim... ORPHA:555905
Spontaneous Periodic Hypothermia
Tremor, Pallor, Aplasia/Hypoplasia of the corpus callosum, Abnormal pattern of respiration ORPHA:29822
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... OMIM:210250
Bronchogenic Cyst
Pneumonia, Bronchogenic cyst, Cough, Pulmonary cyst, Abnormal pleura morphology, Dyspnea, Abnorma... ORPHA:2357
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weakness, Tremor, Abnorma... ORPHA:2590
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure, Short stature OMIM:600561
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Decreased circulating antibod... OMIM:300635
Retinitis Pigmentosa 60
Pallor OMIM:613983
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Cerebral atrophy, Respiratory insufficiency, Degeneration of anterior horn c... OMIM:600333
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Splenomegaly OMIM:619175
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Ichthyosis With Confetti
Erythroderma OMIM:609165
Bloody diarrhea, Inflammation of the large intestine, Enlarged mesenteric lymph node, Vomiting, E... ORPHA:707
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Schnitzler Syndrome
Lymphadenopathy, Pruritus, Arthritis, Splenomegaly, Increased circulating IgM level, Skin rash ORPHA:37748
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmunity, Abnormal intestine morphology, Eczema, Exocrine pancreatic insufficiency, Celiac di... OMIM:615952
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Decreased circulatin... OMIM:614700
Candidiasis, Familial, 8
Macroglossia, Blepharitis, Seborrheic dermatitis OMIM:615527
Mycosis Fungoides
Lymphadenopathy, Psoriasiform dermatitis, Eczema, Pruritus OMIM:254400
Systemic Sclerosis
Myocarditis, Gastroparesis, Abnormal stomach morphology, Intestinal bleeding, Chronic kidney dise... ORPHA:90291
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Growth delay, Exertional dyspnea, Cyanosis, Microcephaly OMIM:250800
Immunodeficiency 31C
Autoimmunity, Abnormal intestine morphology, Eczema, Villous atrophy, Chronic mucocutaneous candi... OMIM:614162
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Atopic dermatitis, Decreased specific antibody response to polysaccharide vaccine, Rhi... ORPHA:70593
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Intestinal perforation, Abnormality of the tongue, Chronic ki... ORPHA:314652
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613736
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Erythroderma Desquamativum
Seborrheic dermatitis, Diarrhea ORPHA:314
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Lymphadenopathy, Normochromic anemia, Decreased circulating antibod... ORPHA:289390
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Seborrheic dermatitis, Marked delay in eruption of permanent ... OMIM:104570
Congenital Non-Bullous Ichthyosiform Erythroderma
Pruritus, Erythroderma, Hypohidrosis, Keratitis ORPHA:79394
Idiopathic Bronchiectasis
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... ORPHA:60033
Epidermolytic Hyperkeratosis
Erythroderma OMIM:113800
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Viral hepatitis, Bacterial endocarditis, Pneumonia, Cryoglo... ORPHA:48435
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Smooth philtrum, Nephrotic syndrome, Long philtrum, Gingival overgrowth, Glomerular ... OMIM:619428
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Follicular hyperplasia, Bronchiectasis OMIM:619126
Waardenburg Syndrome Type 3
Acrocyanosis, Microcephaly, Tracheomalacia, Atelectasis ORPHA:896
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Decreased circulating IgA level, Decreased circulating IgG l... OMIM:619281
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Pneumonia, Lymph node hypoplasia, Aplasia of the thymus, Otitis media, Panhypogam... OMIM:602450
Hyperekplexia 4
Respiratory failure, Umbilical hernia, Cerebral atrophy OMIM:618011
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Reduced delayed ... OMIM:617241
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pulmonary fibrosis, Exertional dyspnea, Atelectasis, Bronchiolitis ORPHA:254361
Lamellar Ichthyosis
Erythroderma, Chronic otitis media, Pruritus, Everted lower lip vermilion, Abnormality of the den... ORPHA:313
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Malabsorption ORPHA:1954
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis, Celiac disease OMIM:618985
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Lymphadenitis, Peritonitis, Vomit... ORPHA:31204
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Decreased circulating antibody level, Recurrent skin infections, Recurrent pneumo... OMIM:616576
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema OMIM:130700
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Chronic tubulointerstitial nephritis, Stage 5 chronic kidney disease, Thin uppe... OMIM:614376
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... ORPHA:470
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Macroglossia, Recurrent otitis media, Keratitis, Chronic diarrhea, Increa... OMIM:618523
Kcnq2-Related Epileptic Encephalopathy
Abnormal globus pallidus morphology, Apnea, Abnormal cerebral white matter morphology, Cerebral e... ORPHA:439218
Indolent Systemic Mastocytosis
Lymphadenopathy, Pruritus, Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular ... ORPHA:98848
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Hematuria, Nephri... OMIM:104200
Idiopathic Pulmonary Fibrosis
Honeycomb lung, Crackles, Bronchiectasis, Ground-glass opacification, Cough, Exertional dyspnea, ... ORPHA:2032
N Syndrome
Leukemia, Cryptorchidism, Abnormality of chromosome stability, Hypospadias OMIM:310465
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Growth delay, Pulmonary arterial hypertension, Cough, Respiratory ... ORPHA:2414
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation OMIM:614493
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Optic Atrophy 9
Pallor OMIM:616289
Lymphoproliferative Syndrome 1
Hepatomegaly, Autoimmunity, Leukopenia, Stomatitis, Lymphadenopathy, Decreased circulating IgG le... OMIM:613011
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Primary Lateral Sclerosis, Juvenile
Pallor, Cerebral cortical atrophy, Abnormal upper motor neuron morphology OMIM:606353
Al Amyloidosis
Abnormal salivary gland morphology, Hepatomegaly, Dysphagia, Nephrotic syndrome, Macroglossia, Xe... ORPHA:85443
Immunodeficiency 55
Diarrhea, Eczema, Recurrent skin infections, Lymphadenopathy OMIM:617827
Pediatric Systemic Lupus Erythematosus
Thrombocytopenia, Lymphadenopathy, Antinuclear antibody positivity, Diarrhea, Nephrotic syndrome,... ORPHA:93552
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:605711
Fanconi Anemia, Complementation Group G
Neutropenia, Abnormality of chromosome stability, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Abnormality of the anterior pituitary, Prostatitis, Lymphadenopathy, Incr... ORPHA:449563
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, High palate, Chronic mucocutaneous candidiasis, Increased circulating IgE ... OMIM:147060
Bacterial Toxic-Shock Syndrome
Sinusitis, Myocarditis, Fasciitis, Hepatitis, Septic arthritis, Diarrhea, Increased circulating m... ORPHA:36234
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis, Rheumatoid factor positive ORPHA:79099
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Patent ductus arteriosus, Decreased peak expirato... ORPHA:95430
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:254875
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Microcephaly, Respiratory failure, Abnormal periventricular white matt... ORPHA:370968
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Neonatal respiratory distress, Patent ductus arteriosus, Respiratory ... OMIM:616867
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Restrictive ventilato... ORPHA:747
Evans Syndrome
Petechiae, Epistaxis, Dyspnea, Pallor, Bruising susceptibility, Jaundice ORPHA:1959
Lig4 Syndrome
Leukocytosis, Hepatomegaly, Abnormality of chromosome stability, Acute leukemia, Lymphadenopathy,... ORPHA:99812
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Bronchiectasis, Leukemia, Decreased cir... OMIM:210900
Pulmonary Alveolar Microlithiasis
Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect, Respiratory failure, Incr... ORPHA:60025
Autosomal Dominant Hyper-Ige Syndrome
Cough, Generalized abnormality of skin, Recurrent respiratory infections, Eosinophilia, Skin ulce... ORPHA:2314
Isolated Agammaglobulinemia
Sinusitis, Autoimmunity, Pneumonia, Recurrent cutaneous abscess formation, Abnormality of the lym... ORPHA:229717
Autoinflammatory Syndrome, Familial, Behcet-Like
Anterior uveitis, Ileal ulcer, Skin rash, Oral ulcer, Lupus anticoagulant, Colitis, Antinuclear a... OMIM:616744
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency, Severe short stature OMIM:313420
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary edema, Pulmonary infiltrates, Respirato... ORPHA:70578
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Pericarditis, Lymphadenopathy, Anterior uveitis, Splenomegaly, Juvenile rheumatoid ... ORPHA:85414
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Arthritis, Splenomegaly, Skin rash, Recurrent aphthous stomatitis, Erythema nodosum OMIM:611762
Peripheral Cone Dystrophy
Pallor OMIM:609021
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory failure, Neonatal death, Respiratory insufficiency OMIM:228940
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Abnormal renal physiology, Systemic lupus erythematosus, Arthritis, Malar rash, Ant... OMIM:609939
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Salivary gland neoplasm, Abnormality of the sublingual g... ORPHA:79493
Hepatomegaly, Abnormal oral cavity morphology, Leukopenia, Elevated hepatic transaminase, Lymphad... ORPHA:507
Ichthyosis Prematurity Syndrome
Pruritus, Allergic rhinitis, Erythroderma OMIM:608649
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Central apnea, Progressive microcephaly ORPHA:71277
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level, Episodic vomiting OMIM:618973
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Prolidase Deficiency
Hepatomegaly, Eczema, High palate, Systemic lupus erythematosus, Anemia, Splenomegaly, Crusting e... OMIM:170100
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... OMIM:615285
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Autoimmunity, Cholangitis, Decreased specific pneumococcal antibody level, Decreased circulating ... ORPHA:183675
X-Linked Sideroblastic Anemia
Dyspnea, Pallor ORPHA:75563
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Hypodontia, Eczema, Abnormality of dental morphology, Thick vermilion border, Hypohidrosis, Abnor... ORPHA:1810
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Recurrent skin infections, Pustule ORPHA:302
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Splenomegaly, Skin rash, Nephropathy, Proteinuria OMIM:105200
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level, Nephrotic syndrome, Splenomegaly OMIM:615846
Immunodeficiency 33
Hypodontia, Increased circulating IgA level, Delayed eruption of teeth, Conical tooth, Decreased ... OMIM:300636
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor, Short stature ORPHA:2786
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Pleuritis, ... ORPHA:449280
Trichothiodystrophy 3, Photosensitive
Erythroderma OMIM:616395
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy, Atelectasis OMIM:300219
Juvenile Arthritis
Antinuclear antibody positivity, Skin rash OMIM:618795
Fanconi Anemia, Complementation Group L
Chromosome breakage, Renal hypoplasia, Cleft palate, Abnormality of chromosome stability, Anemia,... OMIM:614083
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... ORPHA:133
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... OMIM:611926
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Secretory diarrhea, Acne, Hyperhidrosis OMIM:614441
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Punctate keratitis OMIM:602540
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r... OMIM:102700
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea OMIM:613490
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Arnold-Chiari Malformation Type Ii
Meningocele, Partial agenesis of the corpus callosum, Opisthotonus, Myelomeningocele, Pneumonia, ... ORPHA:1136
Macrophage Activation Syndrome
Autoimmunity, Neutropenia, Lymphadenopathy, Hepatitis, Splenomegaly, Abnormal serum interleukin l... ORPHA:158061
Acquired Ichthyosis
Autoimmunity, Pruritus, Recurrent skin infections, Renal insufficiency ORPHA:454
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Pneumonia, Anal canal squamous carcinoma, Chronic otitis media, Increased circ... ORPHA:217390
Q Fever
Myocarditis, Thrombocytopenia, Lymphadenopathy, Hepatitis, Rheumatoid factor positive, Splenomega... ORPHA:781
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule ORPHA:346
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis OMIM:193670
Keratolytic Winter Erythema
Pustule, Hyperhidrosis ORPHA:50943
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin, Neonatal respiratory distress, Intrauterine growth retardation, Neonatal dea... OMIM:619003
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... OMIM:614370
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Everted lower lip vermilion OMIM:242300
Laryngeal Abductor Paralysis
Cyanosis, Stridor, Microcephaly OMIM:150260
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Pulmonary lymphangiectasia, Abnormal renal glomerulus morphology, Thick vermilion border, Membran... OMIM:137940
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Rec... OMIM:244400
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death, Death in infancy, Death in childhood OMIM:619334
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... OMIM:178550
X-Linked Agammaglobulinemia
Sinusitis, Autoimmunity, Agammaglobulinemia, Recurrent cutaneous abscess formation, Chronic otiti... ORPHA:47
Immunodeficiency 92
Cholangitis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Leukocytos... OMIM:619652
Lymphadenopathy, Eosinophilia, Morbilliform rash, Abnormality of the bladder, Pericarditis, Folli... ORPHA:228123
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma ORPHA:312
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Decreased circulating antibody level, Gastri... OMIM:618108
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Increased circulating IgA level, Reduced natural killer cell activity, Dysgammag... OMIM:300291
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Abnormality of chromosome stability OMIM:600546
Bathing Suit Ichthyosis
Erythroderma, Eclabion, Hypohidrosis ORPHA:100976
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Stillbirth, Hydrocephalus, Respiratory failure, Aqueductal stenosis OMIM:276950
Cernunnos-Xlf Deficiency
B lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... ORPHA:169079
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Hy... ORPHA:87503
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Intrauterine growth retardation, Growth delay, Aplasia/Hypoplasia of the corpus... ORPHA:1194
Reticular Dysgenesis
Chronic otitis media, Decreased circulating antibody level, Malabsorption, Skin rash, Aplasia/Hyp... ORPHA:33355
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Anal atresia, Acute myeloid le... OMIM:605724
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Inflammation of the large intestine, Mediastinal lymphadenopa... OMIM:181000
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Autoimmunity, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-ne... ORPHA:572
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Autoimmunity, Abnormal palate morphology, Dysphagia, Lymphadenopathy, Spl... ORPHA:100026
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Microscopic hematuria, Lymphocytosis, Decreased serum complement... ORPHA:79087
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Respiratory insufficiency, Patent ductus arteriosus OMIM:601612
Icf Syndrome
Abnormality of chromosome stability, Macroglossia, Decreased circulating antibody level, Anemia, ... ORPHA:2268
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level, Seborrheic dermatitis, Acne, Hyperhidrosis, Secretory di... OMIM:167100
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Nephr... OMIM:617321
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Ground-glass opacification, Coug... ORPHA:454836
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Duodenal atresia, Leukopenia, Pneumonia, Pelvic kidney, Decreased response to g... OMIM:603467
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Respiratory insufficiency due to muscle weakness, Pallor OMIM:608423
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Secondary microcephaly, Pallor, Cerebral atrophy, Jaundice OMIM:613839
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Cutis Laxa, Autosomal Dominant 1
Progeroid facial appearance, Prematurely aged appearance, Emphysema, Redundant skin OMIM:123700
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Cyanosis, Orthopnea, Reduced vital capacity, ... ORPHA:98913
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Biliary atresia, Bone marrow hypocellularity, Esophageal atresia OMIM:615272
Kikuchi-Fujimoto Disease
Myocarditis, Neutropenia, Lymphadenopathy, Splenomegaly, Lymphocytosis, Enlargement of parotid gl... ORPHA:50918
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Macroglossia, Cheilitis, Lymphadenopathy, Furrowed tongue, ... ORPHA:2483
Acute Peripheral Arterial Occlusion