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Gene: Polb MGI:97740

Gene Summary

Name:

polymerase (DNA directed), beta

Synonyms:

Pol beta, A430088C08Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased lean body mass	Polb^{tm1a(KOMP)Wtsi}	HET	Early adult	1.04×10^-06
decreased total body fat amount	Polb^{tm1a(KOMP)Wtsi}	HET	Early adult	3.89×10^-05
increased mean platelet volume	Polb^{tm1a(KOMP)Wtsi}	HET	Early adult	2.85×10^-07
preweaning lethality, complete penetrance	Polb^{tm1a(KOMP)Wtsi}	HOM	Early adult	0.00

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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.

X-ray

XRay Images Skull Lateral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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Ear epidermis immunophenotyping

Images

11 Images

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Legacy Phenotype Associated Images

Polb^{tm1a(KOMP)Wtsi}
HET, Male, WTSI

Polb^{tm1a(KOMP)Wtsi}
HET, Female, WTSI

View all 70 images

Polb^{tm1a(KOMP)Wtsi}
HOM, Female, WTSI

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.

Human diseases associated with Polb (0 diseases)
Human diseases predicted to be associated with Polb (1076 diseases)

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	Matching phenotypes	Source
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula...	OMIM:614420
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Autoimmunity, Micro...	ORPHA:567544
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I...	OMIM:613652
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p...	OMIM:613779
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Autoimmunity, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocy...	OMIM:617006
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Autoimmune hemolytic anemia, Increased circulating antibody level, Pneumonia	OMIM:247800
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Kimura Disease	Abnormal salivary gland morphology, Increased circulating IgE level, Lymphadenopathy, Follicular ...	ORPHA:482
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Increa...	OMIM:618534
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Rheumatoid factor positive, Eczema, Anal fissure, Perianal abscess, Lymphaden...	OMIM:618935
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells, Decreased cir...	ORPHA:331206
Immunodeficiency 25	Autoimmune hemolytic anemia, Increased circulating IgA level, Recurrent pneumonia, Increased circ...	OMIM:610163
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmun...	ORPHA:911
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage 5 chronic kid...	OMIM:613496
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Glomerulonephritis, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Splenomegaly, C...	OMIM:619375
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, He...	OMIM:618982
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
C1Q Deficiency 3	Discoid lupus rash, Antinuclear antibody positivity, Decreased circulating C1q concentration	OMIM:620322
Complement Component 4A Deficiency	Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced hemolytic compleme...	OMIM:614380
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:603909
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Autoimmunity, Abnormal immunoglobulin level, Absent peripheral lymph nodes in presence of...	ORPHA:98813
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocyte physiology, Pustule, Chronic mu...	OMIM:613953
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A...	ORPHA:70589
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Ch...	OMIM:601859
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Hyper-Igd Syndrome	Skin rash, Increased circulating IgA level, Lymphadenitis, Diarrhea, Chronic diarrhea, Splenomega...	OMIM:260920
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ...	ORPHA:329918
Complement Component C1R/C1S Deficiency	Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis	OMIM:216950
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Monocytope...	OMIM:618986
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Autoimmunity, Cholangitis, Increased circulating IgG4 level, Abnormality of ...	ORPHA:449432
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Igg4-Related Kidney Disease	Rheumatoid factor positive, Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile py...	ORPHA:449395
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Increased circulating IgA level	OMIM:314000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Autoimmunity, Lymphocytic inters...	OMIM:618495
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Systemic Lupus Erythematosus	Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv...	OMIM:152700
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle...	ORPHA:79126
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Hypothyroidism, Increas...	OMIM:304790
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Immunodeficiency 27A	Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Diarrhea, H...	OMIM:209950
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Crackles, Tachypnea, Choreoathetosis, Cough, Oxygen desaturation on exertio...	OMIM:610978
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia...	ORPHA:70588
Chilblain Lupus 2	Chilblains	OMIM:614415
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Increased circulating ...	OMIM:618048
Centrifugal Lipodystrophy	Lymphadenitis, Inflammatory abnormality of the skin	ORPHA:90156
Immunodeficiency 68	Lymphadenitis, Recurrent skin infections, Septic arthritis	OMIM:612260
Immunodeficiency 104	Pneumonia, Eczema, Splenomegaly, Diarrhea, Oral ulcer, Chronic mucocutaneous candidiasis, Lymphad...	OMIM:608971
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Immunodeficiency, Common Variable, 2	Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent...	OMIM:240500
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node germinal cen...	ORPHA:277
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys...	OMIM:265120
Neutropenia, Chronic Familial	Premature loss of teeth, Periodontitis, Gingivitis, Increased circulating antibody level	OMIM:162700
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyelitis, Pneumonia	ORPHA:319552
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Liver kidney microsome type 1 antibody positivity, ...	ORPHA:2137
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,...	ORPHA:2902
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc...	ORPHA:3261
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal oral mu...	ORPHA:79147
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f...	OMIM:619773
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Diarrhea, Recurrent pneumonia, Hepatitis, Protracted diarrhe...	ORPHA:169160
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi...	ORPHA:70587
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega...	OMIM:233710
Slc35A1-Cdg	Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, Reduced circulatin...	OMIM:619632
Severe Combined Immunodeficiency, X-Linked	Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Chronic diarrhea...	OMIM:300400
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Leukocytosis, C...	OMIM:615895
Pseudo-Torch Syndrome 3	Death in infancy, Proteinuria, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital throm...	OMIM:618886
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Transcobalamin Deficiency	Decreased circulating IgG level, Pancytopenia, Abnormality of chromosome stability, Methylmalonic...	ORPHA:859
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega...	OMIM:233690
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c...	OMIM:613913
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s...	OMIM:608709
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru...	OMIM:619644
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro...	OMIM:616100
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Immunodeficiency, Common Variable, 7	Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, Chronic...	OMIM:614699
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Tubulointerstitial nep...	ORPHA:37042
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, T lymphocytopenia, Hypothyroidism, Hemolytic anemia, Psoriasiform dermatitis, De...	OMIM:606367
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, High palate, Glomerulonephritis	ORPHA:2172
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Circulating ...	ORPHA:2035
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Pityriasis Rubra Pilaris	Eczema, Pruritus, Pustule, Erythroderma, Abnormal oral cavity morphology	ORPHA:2897
Igg4-Related Pachymeningitis	Sinusitis, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Complement deficiency, Nep...	ORPHA:449427
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Immunodeficiency, Common Variable, 1	Pneumonia, Impaired T cell function, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis,...	OMIM:607594
Boutonneuse Fever	Renal insufficiency, Skin rash, Maculopapular exanthema, Diarrhea, Cervical lymphadenopathy, Lymp...	ORPHA:83313
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Cleft lip, Stage 5 c...	OMIM:616730
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode...	OMIM:614328
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ...	ORPHA:443811
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Anti-thyroid...	ORPHA:64744
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu...	ORPHA:79078
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Eczema, Chronic diarrhea, Oligoarthritis, Decreased circulating total IgM, Decre...	OMIM:619510
Immunodeficiency 109 With Lymphoproliferation	Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti-CD3, Splenome...	OMIM:620282
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Mesangial hypercellula...	OMIM:616414
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi...	OMIM:619858
Omenn Syndrome	Hepatomegaly, Pneumonia, Eosinophilia, Autoimmunity, Pruritus, Splenomegaly, Leukocytosis, Chroni...	ORPHA:39041
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Abnormality of the pa...	ORPHA:2552
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Lymphadenopathy, Increased circulating IgM level, Decreased circula...	OMIM:615513
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Antiphospholipid antibody positivity, Skin rash, Rheumatoid factor positive, Increased ...	OMIM:615934
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Cleft lip, S...	OMIM:618348
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Inflammation of the large intestine, Decreased circulating IgG level, Psorias...	ORPHA:436159
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Antinuclear antibody positivity, Anti-L...	ORPHA:536
Activated Pi3K-Delta Syndrome	Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati...	ORPHA:397596
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, ...	OMIM:617638
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Protein-losing enteropa...	OMIM:613502
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Melioidosis	Foot osteomyelitis, Unusual skin infection, Pneumonia, Abnormality of the spleen, Osteoarthritis,...	ORPHA:31202
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:444463
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Lymphadenopathy, Arthritis...	ORPHA:69126
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Increased circulating Ig...	OMIM:243700
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Chronic diarrhea, Decreased circulating total IgM, Recurrent sinusitis, ...	OMIM:617765
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, Nephrotic syndrome, Colonic eosino...	OMIM:618999
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Igg4-Related Aortitis	Increased inflammatory response, Intestinal obstruction, Autoimmunity, Increased circulating IgG4...	ORPHA:449400
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Pustule, Myocarditis, Enanthema, Hepatitis, Thyroiditis, Lymphade...	ORPHA:139402
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R...	ORPHA:51636
Subcorneal Pustular Dermatosis	Hyperthyroidism, Autoimmunity, Pruritus, Pustule, Systemic lupus erythematosus, Increased circula...	ORPHA:48377
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Severe short stature, Growth delay, Respiratory failure, Aspiratio...	OMIM:619057
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:306400
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Respiratory failure, Aspirat...	ORPHA:90117
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Simplified gyral pattern, Respiratory insufficiency	OMIM:618328
Bullous Dystrophy, Hereditary Macular Type	Severe short stature, Acrocyanosis, Death in childhood	OMIM:302000
Bullous Impetigo	Recurrent bacterial skin infections, Glomerulopathy, Pustule, Abnormality of the lymphatic system...	ORPHA:36237
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,...	ORPHA:411593
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Chronic decreased circulating total IgG	OMIM:613495
Immunodeficiency 50	Recurrent urinary tract infections, Eczema, Decreased circulating antibody level	OMIM:300988
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct...	ORPHA:79127
Immunodeficiency, Common Variable, 11	Mucoid diarrhea, Aphthous ulcer, Increased circulating IgE level, Inflammation of the large intes...	OMIM:615767
Peeling Skin Syndrome 1	Pruritus, Increased circulating IgE level, Palmoplantar hyperhidrosis, Erythroderma	OMIM:270300
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp...	OMIM:610910
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory...	OMIM:620321
Immunodeficiency 61	Decreased circulating IgG4 level, Malabsorption, Agammaglobulinemia, Arthritis, Decreased circula...	OMIM:300310
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Complement Component 5 Deficiency	Intractable diarrhea, Decreased circulating complement C5 concentration, Reduced hemolytic comple...	OMIM:609536
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Allergic ...	OMIM:615816
Immunodeficiency 54	Hepatomegaly, Chromosome breakage, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone exc...	OMIM:609981
Idiopathic Pulmonary Hemosiderosis	Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o...	ORPHA:99931
Pemphigus Foliaceus	Psoriasiform dermatitis, Autoimmunity, Abnormal oral mucosa morphology, Pruritus, Pustule, Crusti...	ORPHA:79481
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to...	OMIM:613493
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non...	ORPHA:1302
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Ataxia-Telangiectasia	Elevated hepatic transaminase, Abnormality of chromosome stability, Abnormal testis morphology, P...	ORPHA:100
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Immunodeficiency With Hyper-Igm, Type 1	Oral ulcer, Gingivitis, Decreased circulating IgE, Decreased circulating IgG level, Hepatitis, Im...	OMIM:308230
Verrucous Hemangioma	Inflammatory abnormality of the skin	ORPHA:464318
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Sézary Syndrome	Abnormal immunoglobulin level, Pruritus, Splenomegaly, Lymphadenopathy, Erythroderma	ORPHA:3162
Intellectual Developmental Disorder, Fra12A Type	Erythroderma	OMIM:136630
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Sinusitis, Pneumonia, Otitis media	OMIM:312863
Netherton Syndrome	Villous atrophy, Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE ...	OMIM:256500
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colit...	OMIM:618394
Immunodeficiency 70	Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ...	OMIM:618969
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Microdontia, Nephropathy, Nephrotic range proteinuria, Min...	ORPHA:1830
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc...	ORPHA:91359
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Increased circulating IgE lev...	OMIM:212050
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary...	ORPHA:330012
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody positivity, Sp...	OMIM:617388
Immunodeficiency 62	Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Reduced isohemagglu...	OMIM:618459
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody...	ORPHA:93126
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Breath-Holding Spells	Cyanosis, Pallor	OMIM:607578
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Everted upper lip vermilion, Splenomegaly, Decreased proportion of CD8-positive, al...	OMIM:619824
Thymoma	Myositis, Glomerulonephritis, Autoimmunity, Abnormal lymphocyte proliferation, Abnormal lymphocyt...	ORPHA:99867
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmunity, Follicular hyperplasia, Autoimmune th...	OMIM:614470
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctiviti...	OMIM:612692
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Abnormality of the dentition, Pruritus, Recurre...	OMIM:618282
Neuralgic Amyotrophy	Acrocyanosis, Short stature, Respiratory insufficiency	ORPHA:2901
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Hashimoto thyroiditis, P...	ORPHA:49041
Candidiasis, Familial, 8	Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Blepharitis	OMIM:615527
Tularemia	Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology, Mediastinal l...	ORPHA:3392
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:616081
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Death in infancy, Autoimmune thrombocytopenia, Sple...	OMIM:617514
Brucellosis	Liver abscess, Rheumatoid factor positive, Knee osteoarthritis, Hyperhidrosis, Leukopenia, Abnorm...	ORPHA:1304
Netherton Syndrome	Skin rash, Eczema, Malabsorption, Ectopic kidney, Increased circulating IgE level, Decreased circ...	ORPHA:634
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr...	ORPHA:100024
Cystic Echinococcosis	Elevated hepatic transaminase, Hepatomegaly, Abnormal peritoneum morphology, Abscess, Eosinophili...	ORPHA:400
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Respiratory insufficiency due to muscle weakness, Paucity...	OMIM:611890
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Gingival overgrowth, Chronic constipation, Nephroti...	OMIM:619428
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Persistence of primary teeth, Supernumerary tooth, Recurrent pneumonia...	OMIM:619752
Immunodeficiency 58	Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Dysuria,...	OMIM:618131
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D...	ORPHA:275
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia, Absent leukocyte alkaline phosphatase	OMIM:242880
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Decreased response to growth hormone stimulation test, Pyloric stenosis,...	OMIM:615577
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Pruritus, Abnormality of the spleen, Diarrhea, Lymphad...	ORPHA:79456
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat...	ORPHA:562639
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:567548
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Immunodeficiency 48	Pneumonia, Splenomegaly, Diarrhea, Eczematoid dermatitis, Panhypogammaglobulinemia	OMIM:269840
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Micropenis, Hypospadias, Erythroderma	OMIM:618840
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Autoinflammation With Episodic Fever And Lymphadenopathy	Rheumatoid factor positive, Antinuclear antibody positivity, Splenomegaly, Recurrent tonsillitis,...	OMIM:618852
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula...	ORPHA:555905
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot...	ORPHA:2257
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Chiari Malformation Type Ii	Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Gray matter heterotopia, C...	OMIM:207950
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Skin rash, Pneumonia, Proteinuria, Autoimmunity, Enlarged polycystic ovaries, A...	ORPHA:2298
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation	ORPHA:1832
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
N Syndrome	Cryptorchidism, Leukemia, Hypospadias, Abnormality of chromosome stability	OMIM:310465
Dermatitis, Atopic	Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin	OMIM:603165
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Oral ulcer, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn...	OMIM:613148
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Tremor, Respiratory insufficiency due to muscle weakness,...	ORPHA:2590
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Cervical lymphadenopathy, Decreased circulating IgG level	OMIM:618987
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Fanconi Anemia, Complementation Group G	Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant...	ORPHA:90283
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Hepatosplenomegaly, Bronchiectasis, Follicular hyperplasia	OMIM:619126
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo...	OMIM:620296
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary...	ORPHA:36238
Plague	Glossitis, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Hematemesis, Diarrhea, Spleno...	ORPHA:707
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Variant Abeta2M Amyloidosis	Intestinal perforation, Chronic kidney disease, Abnormality of the tongue, Renal amyloidosis, Abn...	ORPHA:314652
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Lymphoproliferative Syndrome, X-Linked, 2	Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Decreased circulating...	OMIM:300635
Schnitzler Syndrome	Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Arthritis, Increased circulating IgM level	ORPHA:37748
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis, Acrocyanosis	ORPHA:896
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Increased circulating IgE level, Increased circulating IgM level, Hypoplasia of the thymu...	OMIM:617241
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating I...	OMIM:619707
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Dental crowding, Eczema, Keratitis, Increased circulating IgE level, Chronic diarrhea, Bronchiect...	OMIM:618523
Systemic Sclerosis	Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha...	ORPHA:90291
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Celiac disease, A...	OMIM:615952
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Intrauterine growth re...	OMIM:620326
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemi...	OMIM:308240
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Autoimmunity, Splenomegaly, Chronic diarrhea, Enlarged tonsils, ...	OMIM:616005
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent skin...	OMIM:620210
Erythroderma Desquamativum	Diarrhea, Seborrheic dermatitis	ORPHA:314
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Persistence of primary teeth, Recurrent pneumonia, Increased circulating IgE level, Ch...	OMIM:147060
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:470
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Congenital Heart Block	Cyanosis, Crackles, Patent ductus arteriosus, Pallor, Intrauterine growth retardation, Pleural ef...	ORPHA:60041
Congenital Ichthyosiform Erythroderma	Keratitis, Hypohidrosis, Erythroderma, Pruritus	ORPHA:79394
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Skin rash	OMIM:619175
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis, Marked delay in eruption of permanent teeth, Hypohidrosis, Yellow-brown di...	OMIM:104570
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea	ORPHA:254361
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Abnormality of the kidney, Antinuclear antibody positivity, Systemic lupus erythema...	OMIM:609939
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la...	OMIM:614700
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Malabsorption	ORPHA:1954
Chilblain Lupus 1	Antinuclear antibody positivity, Chilblains	OMIM:610448
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ...	ORPHA:289390
Lamellar Ichthyosis	Renal insufficiency, Abnormality of the dentition, Pruritus, Everted lower lip vermilion, Erythro...	ORPHA:313
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Acute Myelomonocytic Leukemia	Dyspnea, Pallor, Eosinophilia	ORPHA:517
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Antineutrophil antibody positivity, Splenomegaly, Neut...	OMIM:301078
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Proteinuria, Glomerulonephritis, Supernumerary nipple, Renal hypoplasia...	OMIM:614376
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Growth delay, Cough, Pulmonary art...	ORPHA:2414
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczema, Lymphadenopathy	OMIM:254400
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613736
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Howell-Jolly bodies, Gastroparesi...	ORPHA:85443
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Respiratory failure	OMIM:618637
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopeni...	OMIM:613011
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Abnormality of chromosome stability, Malabsorpti...	ORPHA:99812
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ...	OMIM:620233
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Increased susceptibility to spontaneous sister chromatid exchange, Malar rash, Gastroesophageal r...	OMIM:618097
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Celiac disease, Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Pulmonary Capillary Hemangiomatosis	Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap...	ORPHA:199241
Fanconi Anemia, Complementation Group O	Chromosome breakage, Death in infancy, Miscarriage, Cryptorchidism, Rectal atresia, Stage 5 chron...	OMIM:613390
Immunodeficiency 14B, Autosomal Recessive	Reduced natural killer cell activity, Recurrent pneumonia, Chronic diarrhea, Decreased circulatin...	OMIM:619281
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure, Short stature	OMIM:600561
Subacute Cutaneous Lupus Erythematosus	Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit...	ORPHA:163525
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu...	OMIM:615285
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea, Dystonia	OMIM:616277
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Eosinophilia, Atelectasis, Skin ulcer, Cough, Skin vesicle, Gen...	ORPHA:2314
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Nocardiosis	Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thyroiditis, Endoc...	ORPHA:31204
Classic Glucose Transporter Type 1 Deficiency Syndrome	Choreoathetosis, Central apnea, Cyanosis, Dystonia	ORPHA:71277
Benign Paroxysmal Torticollis Of Infancy	Torticollis, Pallor	ORPHA:71518
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis, Neonatal death, Death in infancy	OMIM:300219
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Abnormal cortical gyration, Patent ductus arteriosus, Respiratory ...	OMIM:616867
Familial Focal Epilepsy With Variable Foci	Polymicrogyria, Pallor, Flushing	ORPHA:98820
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Panhypogammaglobulinemia	OMIM:615214
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Infectious encep...	ORPHA:36234
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Increased circulating IgG4 level, Abnormality of the kidney, Keratitis, O...	ORPHA:449563
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Eczema, Reduced natural killer cell activity	OMIM:614493
Nemaline Myopathy 8	Death in infancy, Respiratory failure	OMIM:615348
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased circulating total IgM, Abnormal thymus morphology, Decrease...	OMIM:611926
Epidermolytic Hyperkeratosis 2	Erythroderma	OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 9	Eclabion, Hypohidrosis, Erythroderma	OMIM:615023
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo...	ORPHA:79493
Pediatric Systemic Lupus Erythematosus	Myositis, Oral ulcer, Leukopenia, Vomiting, Decreased circulating complement C4 concentration, Lu...	ORPHA:93552
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Lymphadenopathy, Arthritis, Recurrent aphthous stomatitis	OMIM:611762
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Abnormality of chromosome stability, Pancytopenia	OMIM:600546
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Growth delay, Respira...	OMIM:245400
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Chromosomal breakage induced by crosslink...	OMIM:616435
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox...	ORPHA:747
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Opisthotonus, Respiratory failure, Intrauterine growth retardation, Polymicrogyria	OMIM:610678
Indolent Systemic Mastocytosis	Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Increased proportion...	ORPHA:98848
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level, Episodic vomiting	OMIM:618973
Ichthyosis Prematurity Syndrome	Pruritus, Allergic rhinitis, Erythroderma	OMIM:608649
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Pallor, Growth delay	OMIM:613561
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thromb...	OMIM:102700
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of the tonsil...	ORPHA:229717
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis	ORPHA:79099
Ichthyosis With Confetti	Pruritus, Hypoplastic nipples, Erythroderma	OMIM:609165
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnorm...	ORPHA:507
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Anal a...	OMIM:605724
Whim Syndrome 1	Decreased circulating IgG level, Bronchiectasis, Decreased circulating antibody level	OMIM:193670
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Bone Marrow Failure Syndrome 3	Aplastic anemia, Pancreatic steatosis, Oral ulcer, Downturned corners of mouth, Neutropenia, Micr...	OMIM:617052
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr...	ORPHA:454836
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhin...	OMIM:244400
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Hyperimidodi...	OMIM:170100
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev...	ORPHA:70578
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Renal insufficiency, Pustule, Leukocytosis, Cheilitis, Uveitis, Ar...	ORPHA:247353
Immunodeficiency 96	Multicystic kidney dysplasia, Eczema, Decreased circulating total IgM, Defective T cell prolifera...	OMIM:619774
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ...	OMIM:616576
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopathy, Juvenile ...	ORPHA:85414
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona...	ORPHA:1164
Evans Syndrome	Epistaxis, Dyspnea, Jaundice, Pallor, Bruising susceptibility, Petechiae	ORPHA:1959
Spontaneous Periodic Hypothermia	Tremor, Pallor, Abnormal pattern of respiration	ORPHA:29822
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Skin rash, Antinuclear antibody positivity, Oral ulcer, Colitis, Ileal ulcer, L...	OMIM:616744
Icf Syndrome	Abnormality of chromosome stability, Abnormality of neutrophils, Protruding tongue, Malabsorption...	ORPHA:2268
Epidermodysplasia Verruciformis	Pustule, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure	OMIM:225753
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa...	OMIM:312170
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, High ...	OMIM:614069
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Immunodeficiency 44	Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn...	OMIM:616636
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno...	OMIM:602450
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M...	OMIM:615508
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hyperhidrosis, Acne, Secretory diarrhea, Seborrheic dermatitis	OMIM:614441
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto...	OMIM:620133
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Recurrent pneumonia, Secretory diarrhea, Increased circulating IgE level, Vomiting	OMIM:616069
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased...	OMIM:619846
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Redundant neck skin, Pulmonary hypoplasia, Neonatal death, Pulmona...	OMIM:619003
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in...	ORPHA:60025
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure, Pachygyria, Agenesis of corpus callosum	ORPHA:168486
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Thrombocytopenia, Patent ductus...	OMIM:603467
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Cholangitis, Cholecystitis, Decreased circulating IgG level, Psoriasiform derm...	ORPHA:183675
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Q Fever	Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti...	ORPHA:781
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ...	OMIM:618108
Juvenile Arthritis	Antinuclear antibody positivity, Skin rash	OMIM:618795
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma	ORPHA:312
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor...	ORPHA:228123
Erythema Nodosum, Familial	Erythema nodosum	OMIM:132990
Immunodeficiency 22	Pericarditis, Autoimmunity, Diarrhea, Protracted diarrhea, Decreased circulating total IgM, Panni...	OMIM:615758
Hepatic Veno-Occlusive Disease	Jaundice, Respiratory failure	ORPHA:890
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Keratolytic Winter Erythema	Pustule, Hyperhidrosis	ORPHA:50943
Immunodeficiency 33	Delayed eruption of teeth, Conical tooth, Increased circulating IgA level, Decreased circulating ...	OMIM:300636
Amyloidosis, Familial Visceral	Skin rash, Proteinuria, Splenomegaly, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,...	ORPHA:449280
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:158061
Optic Atrophy 1	Pallor	OMIM:165500
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ...	ORPHA:90340
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Severe short stature, Respiratory insufficiency	OMIM:313420
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Eczema, Premature loss of primary teeth, Abnormality of the dentition...	ORPHA:1810
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Generalized lymphadenopathy, Iridocyclitis, Mediastinal lymphad...	OMIM:181000
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Oral ulcer, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Ly...	ORPHA:50918
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Miscarriage, Hematemesis, Thrombocytopenia, Jaundice, H...	ORPHA:319251
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents	OMIM:609054
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Fanconi Anemia, Complementation Group S	Chromosome breakage, Macrodontia, Dental malocclusion, Narrow palate, Ovarian neoplasm, Ovarian c...	OMIM:617883
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Death in infancy, Eosinophilia, Hepatic cysts, Decreased circulating antibody level, Erythroderma...	OMIM:617425
X-Linked Sideroblastic Anemia	Dyspnea, Pallor	ORPHA:75563
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Ichthyosis, Congenital, Autosomal Recessive 1	Everted lower lip vermilion, Erythroderma	OMIM:242300
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Abnorma...	ORPHA:47
Reticular Dysgenesis	Skin rash, Malabsorption, Diarrhea, Decreased circulating antibody level, Chronic otitis media, A...	ORPHA:33355
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Immunodeficiency 32B	Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, B...	OMIM:226990
Multiple Mitochondrial Dysfunctions Syndrome 3	Intrauterine growth retardation, Respiratory failure, Polymicrogyria, Respiratory insufficiency	OMIM:615330
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased pr...	OMIM:619652
Bloom Syndrome	Decreased circulating IgG level, Chromosome breakage, Abnormality of chromosome stability, Elevat...	OMIM:210900
Hyperekplexia 4	Umbilical hernia, Respiratory failure	OMIM:618011
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis, Secretory diarrhea, Hyperhidrosis, Elevated urinary prostaglandin E2...	OMIM:167100
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Exertional dyspnea, Cyanosis, Opisthotonus	OMIM:250800
Bathing Suit Ichthyosis	Eclabion, Hypohidrosis, Erythroderma	ORPHA:100976
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Hy...	ORPHA:87503
Hereditary Methemoglobinemia	Athetosis, Exertional dyspnea, Cyanosis, Limb dystonia	ORPHA:621
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus, Respiratory insufficiency	OMIM:601612
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Pallor	OMIM:606353
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Redundant skin, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, ...	OMIM:613177
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Reticulocytopenia, Neutropenia, Micropenis, Pelvic kidney, Renal duplication, Cry...	OMIM:227646
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis, Furrowed tongue, Lymphadenopathy, Macroglossia, ...	ORPHA:2483
Fanconi Anemia, Complementation Group B	Death in infancy, Abnormality of chromosome stability, Aplastic anemia, Renal agenesis, Esophagea...	OMIM:300514
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Diarrhea, Xerostomia, Oral ulcer, ...	OMIM:617321
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Ichthyosis, Hystrix-Like, With Deafness	Punctate keratitis, Erythroderma	OMIM:602540
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Cyclic Neutropenia	Premature loss of permanent teeth, Sinusitis, Recurrent skin infections, Perianal abscess, Perito...	ORPHA:2686
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi...	OMIM:612387
Congenital Disorder Of Glycosylation, Type Iig	Failure to thrive in infancy, Giant platelets, Anemia, Camptodactyly, Thrombocytopenia	OMIM:611209
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Inguinal hernia, Increased mean platelet volume, Camptodactyly	OMIM:616737
Harlequin Ichthyosis	Eclabion, Erythroderma	ORPHA:457
Angiostrongyliasis	Projectile vomiting, Increased circulating IgA level, Pruritus, Increased circulating specific Ig...	ORPHA:74
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczema, Systemic lupus erythematosus	OMIM:616871
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth	OMIM:276950
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Abnormal renal morphology, Renal hypoplasi...	OMIM:609053
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Death in childhood, Death in infancy, P...	OMIM:243150
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch...	OMIM:607625
Sjogren Syndrome	Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar...	OMIM:270150
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Vomiting, Neutrophilia, Leukocytosis, Chronic ...	ORPHA:3260
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Jaundice, Short stature, Pallor	OMIM:615631
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Congenital Disorder Of Glycosylation, Type If	Thin vermilion border, Renal cortical cysts, Erythroderma	OMIM:609180
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira...	ORPHA:258
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Simplified gyral pattern, Lateral ventricle dilatation, Lissencephaly, Intrauterine growth retard...	ORPHA:284417
Pemphigus Erythematosus	Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, O...	ORPHA:79480
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Fanconi Anemia, Complementation Group R	Chromosomal breakage induced by crosslinking agents, Agenesis of permanent teeth, Anemia, Bone ma...	OMIM:617244
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Respiratory failure	OMIM:613435
Lymphangiectasia, Intestinal	Lymphopenia, Malabsorption, Stillbirth, Intestinal lymphangiectasia, Decreased circulating IgG level	OMIM:152800
Immunodeficiency 81	Recurrent cutaneous abscess formation, Autoimmune hemolytic anemia, Skin rash, Reduced natural ki...	OMIM:619374
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Leigh Syndrome	Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Dystonia, Abnormal patte...	OMIM:256000
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Immunodeficiency 7	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Diarrhea, Lymphadenopathy, Chronic oral ...	OMIM:615387
Immunodeficiency 17	Death in infancy, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cel...	OMIM:615607
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure, Bruising susceptibility, Pallor	ORPHA:3226
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le...	ORPHA:29073
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Hepatocellul...	OMIM:618278
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Cry...	OMIM:227645
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, Hy...	ORPHA:340
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach...	ORPHA:137914
Fragile X Syndrome	Sinusitis, Macroorchidism, Folate-dependent fragile site at Xq28, Gastroesophageal reflux, Otitis...	ORPHA:908
Crimean-Congo Hemorrhagic Fever	Hyperhidrosis, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbil...	ORPHA:99827
Biotinidase Deficiency	Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Diarrhea, Organic acid...	OMIM:253260
Buerger Disease	Acrocyanosis, Skin ulcer	ORPHA:36258
Immunodeficiency 19	Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Abnormal...	OMIM:615617
Short-Rib Thoracic Dysplasia 12	Atelectasis, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Respiratory insufficiency, Pul...	OMIM:269860
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin	ORPHA:90160
Kcnq2-Related Epileptic Encephalopathy	Dystonia, Apnea, Pallor, Facial erythema	ORPHA:439218
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Pallor	ORPHA:276608
Fanconi Anemia, Complementation Group V	Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Bone marrow hypocellularit...	OMIM:617243
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Gingivitis, Conjunctivitis, Otitis media, Vaginitis, Perianal ab...	ORPHA:2968
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Tachypnea, Degeneration of anterior horn cells, Respiratory failure, Intrauterine growth retardat...	OMIM:604320
Rheumatic Fever	Sinusitis, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Erythema, Respiratory in...	ORPHA:3099
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration	ORPHA:31
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Goodpasture Syndrome	Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacification, Increased DLCO...	OMIM:233450
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Skin rash, Increased circulating IgA level, Diarrhea, Chronic diarrhea, Lymphadenopathy, Increase...	OMIM:617099
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Renal cortical adenoma, Pa...	ORPHA:97290
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Cryptorchidism, Chrom...	OMIM:227650
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Cryptorchidism, Chrom...	OMIM:600901
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Neutropenia, Stomatitis, A...	OMIM:246400
Farber Disease	Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent up...	ORPHA:333
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Tremor, Patent ductus arteriosus, Respiratory failure, Intrauterine...	OMIM:620327
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory failure, Respiratory insufficiency	ORPHA:370968
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Xeroderma Pigmentosum, Complementation Group G	Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphol...	ORPHA:251004
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Microcytic anemia, Increased circulating inter...	OMIM:256040
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Hydroc...	ORPHA:567546
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi...	OMIM:614370
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Hydrocephalus, Pulmonary in...	ORPHA:538
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma...	ORPHA:2688
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Torticollis, Repeated pneumothoraces, Postnatal growth retardation, Atelect...	ORPHA:536467
Fanconi Anemia, Complementation Group Q	Chromosome breakage, Esophageal atresia, Biliary atresia, Anteriorly placed anus, Bone marrow hyp...	OMIM:615272
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory insufficiency due to muscle weakness, Perisylvian polymicrogyria, Resp...	OMIM:618291
Lujo Hemorrhagic Fever	Respiratory distress, Resting tremor, Crackles, Atelectasis, Nonproductive cough, Rhinitis, Ecchy...	ORPHA:319213
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Severe short stature, Rhizomelia, Redundant skin, Hydrocepha...	OMIM:616482
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Thromb...	OMIM:617591
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Increased circulating IgM level, Splenomegaly, Patent ductus arteriosu...	OMIM:617303
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa...	OMIM:618213
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie...	ORPHA:33110
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Respiratory failure, Tremor, Limb dystonia	ORPHA:363400
Copper Deficiency, Familial Benign	Seborrheic dermatitis	OMIM:121270
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Recurrent urinary tract infections, Autoimmu...	ORPHA:47612
Dravet Syndrome	Cyanotic episode, Pallor, Action tremor	ORPHA:33069
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Aplasia of the thymus, Pneumonia, Decreased propor...	ORPHA:83471
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Diarrhea, Recurrent pneumonia, Enuresis nocturna, Arthrit...	ORPHA:420741
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Peritonitis...	ORPHA:343
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Ichthyosis, Congenital, Autosomal Recessive 5	Erythroderma	OMIM:604777
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ...	ORPHA:227990
Tay-Sachs Disease	Aspiration, Exaggerated startle response, Pallor	OMIM:272800
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Malabsorption, Chronic diarrhea, Keratoconjunctivitis sicca, Erythroderma...	OMIM:601675
Hemoglobin D Disease	Pallor	ORPHA:90039
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Cervical lymphadenopat...	OMIM:142680
Ichthyosis, Congenital, Autosomal Recessive 6	Hypohidrosis, Erythroderma	OMIM:612281
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Opisthotonus, Respiratory failure, Neonatal death, P...	OMIM:605711
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk...	ORPHA:227982
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short stat...	ORPHA:209905
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno...	ORPHA:555874
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Respiratory failure, Respiratory insufficiency, Dystonia	OMIM:618186
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Vomiting, Elevated gamma-glutamyltransferase level, Gastroesophageal reflux, H...	OMIM:619525
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Bullous Pemphigoid	Psoriasiform dermatitis, Autoimmunity, Eczema	ORPHA:703
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Elevated circulatin...	ORPHA:2796
Snakebite Envenomation	Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis	ORPHA:449285
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Redundant neck skin, Postnatal ...	ORPHA:3309
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Follicular hyperplasia, Pr...	ORPHA:556
22Q11.2 Deletion Syndrome	Impaired T cell function, Hypoplasia of the thymus, Gastroesophageal reflux, Short philtrum, Chro...	ORPHA:567
Mercury Poisoning	Respiratory distress, Tremor, Dyspnea, Interstitial pneumonitis, Respiratory failure, Dystonia	ORPHA:330021
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Syndromic Diarrhea	Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypopla...	ORPHA:84064
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Fragile X Syndrome	Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism, P...	OMIM:300624
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure	OMIM:613954
Pontocerebellar Hypoplasia Type 1	Degeneration of anterior horn cells, Respiratory failure, Congenital laryngeal stridor	ORPHA:2254
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Autoimmu...	ORPHA:36412
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Short stature, Opisthotonus, Death in childhood, Respiratory failure, Lateral ventricle dilatatio...	OMIM:619847
Refractory Celiac Disease	Elevated hepatic transaminase, Normocytic anemia, Inflammatory abnormality of the skin, Macrocyti...	ORPHA:398063
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Cutis laxa	OMIM:614100
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Splenomegaly, Thrombocytosis, Failure ...	OMIM:222470
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
American Trypanosomiasis	Skin rash, Aganglionic megacolon, Myocarditis, Diarrhea, Autoimmune antibody positivity, Splenome...	ORPHA:3386
Fanconi Anemia, Complementation Group L	Chromosome breakage, Unilateral renal agenesis, Esophageal atresia, Chromosomal breakage induced ...	OMIM:614083
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Tremor, Respiratory insufficiency due to muscle weakness,...	OMIM:615512
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Generalized dystonia	ORPHA:70472
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Abnormality of chromosome stability...	ORPHA:647
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death, Pachygyria	OMIM:614922
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Simplified gyral pattern, Growth delay, Dystonia, Acrocyanosis, Intention tremor	OMIM:614407
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephritis, Aminoa...	ORPHA:91500
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Seborrheic dermatitis, Hyperhidrosis, Arthritis, High palate, Eczematoid dermatitis	OMIM:259100
Hypotrichosis Simplex Of The Scalp	Allergic rhinitis, Abnormality of the dentition, Pruritus, Increased circulating IgE level, Atopi...	ORPHA:90368
Cyclic Vomiting Syndrome	Growth delay, Pallor	OMIM:500007
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Restrictive Dermopathy 2	Respiratory distress, Intrauterine growth retardation, Cyanosis	OMIM:619793
Zika Virus Disease	Maculopapular exanthema, Skin rash, Pruritus, Arthritis, Increased circulating IgM level, Conjunc...	ORPHA:448237
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Respiratory failure	ORPHA:75840
Good Syndrome	Recurrent urinary tract infections, Sinusitis, Recurrent skin infections, Mediastinal lymphadenop...	ORPHA:169105
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure	OMIM:618240
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Tremor, Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy, Death in ch...	OMIM:617186
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Decreased circulating total IgM, Enamel hypoplasia, Decreased circul...	ORPHA:2643
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Erosion of oral mucosa, Renal insufficiency, Recurrent skin infections, Glome...	ORPHA:79408
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Glomerulopathy, Proteinu...	ORPHA:77297
Beta-Thalassemia	Skin ulcer, Pallor, Respiratory insufficiency	ORPHA:848
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Growth delay, Death in infancy, Respiratory failure, Intrauterine growth retardation	ORPHA:1194
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Pallor	ORPHA:49827
Non-Functioning Paraganglioma	Tremor, Pallor, Flushing	ORPHA:94080
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Oral ulcer, T lymphocytopenia, Colitis, V...	OMIM:619381
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Tremor, Patent ductus arteriosus, Jaundice, Hypopnea, Growth delay, Resp...	OMIM:617248
Nijmegen Breakage Syndrome-Like Disorder	Chromosomal breakage induced by ionizing radiation	OMIM:613078
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea	ORPHA:2759
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cleft upper lip, Cleft palate, Hematuria, N...	OMIM:161200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Restrictive ventilatory defect, Respiratory failure, Pachygyria	OMIM:606612
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Functional abnormality of the bladder	OMIM:300076
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Fluctuating hepatomegaly...	OMIM:610377
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis	ORPHA:444013
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Increased circu...	OMIM:242860
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Facial erythema	OMIM:618307
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Death in infancy, Eosinophilia, Spina bifida, Seborrheic...	OMIM:274000
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Oral ulcer, Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Renal artery an...	OMIM:615688
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno...	OMIM:607330
Cutis Laxa-Marfanoid Syndrome	Emphysema, Redundant skin	ORPHA:171719
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Hyperhidrosis, Hepatosplenomegaly, Micropenis, Thin...	ORPHA:96123
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Conjunctivitis, Elevated gamma-glutamyltransferase level, Cirrhosi...	OMIM:242150
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Carious teeth, High, narrow palate, Cryptorchidism, ...	ORPHA:33364
Graft Versus Host Disease	Fasciitis, Myositis, Oral ulcer, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea...	ORPHA:39812
Immunodeficiency 12	Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Esophageal stricture, Chei...	OMIM:615468
Intermediate Nemaline Myopathy	Respiratory failure	ORPHA:171433
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Oculogyric crisis, Opisthotonus, Choreoathetosis, Pallor, Dystonia	ORPHA:13
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, C...	ORPHA:2038
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:604292
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Functional abnormality of the bladder, T lymphocytopenia, Infectious encephaliti...	ORPHA:391487
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Inguinal hernia, Increased mean platelet volume, Flexion contracture, Camptodactyly, Thrombocytop...	ORPHA:487796
Tick-Borne Encephalitis	Elevated hepatic transaminase, Leukocytosis, Leukopenia, Increased circulating IgG level, Increas...	ORPHA:297
Digeorge Syndrome	Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology...	OMIM:188400
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Seborrheic dermatitis, Patent ductus arteriosus...	ORPHA:488618
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Waldenström Macroglobulinemia	Cutis marmorata, Epistaxis, Respiratory insufficiency, Pulmonary infiltrates, Urticaria, Pallor, ...	ORPHA:33226
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Hemolyti...	ORPHA:809
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Gastroesophageal reflux, Recurrent aspiration pneumonia, Psoriasiform dermatitis, Thin lower lip ...	ORPHA:221139
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus eryt...	ORPHA:90036
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Osteoarthritis, Thrombocyto...	ORPHA:77259
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Lymphocytosis, Cellulitis, Failure to thrive, Thrombocytopenia	OMIM:617718
X-Linked Dominant Chondrodysplasia Punctata	High palate, Hydronephrosis, Erythroderma	ORPHA:35173
Spinocerebellar Ataxia Type 1	Respiratory failure, Postural tremor, Dystonia	ORPHA:98755
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia, Abnormality of the kidney	ORPHA:284227
Alpha-1-Antitrypsin Deficiency	Jaundice, Emphysema	ORPHA:60
Dermatitis Herpetiformis	Pruritus, Autoimmunity, Eczema, Malabsorption	ORPHA:1656
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Intestinal obstruction, Decreased lymphocyte proliferation in response to anti-CD3, Pneumonia, Ab...	OMIM:600802
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Respiratory failure, Short stature	ORPHA:1861
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Abnormal urinary color, Autoimmunity, Splenomegaly, Diarrhea, Lym...	ORPHA:56425
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ...	ORPHA:90051
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Hepatomegaly, Death in infancy, Bilateral fetal pyelectasis, Seborr...	OMIM:300868
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E...	ORPHA:2363
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrho...	OMIM:301072
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level, Functional abnormality of the bladder	ORPHA:2571
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Radial-Renal Syndrome	Chromosome breakage, Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Hepatic fibrosis, Microdontia, Decreased circulating IgG level, Hypothy...	OMIM:620005
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Autoimmunity, Hypersplenis...	ORPHA:228426
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal pleura morphology, Eosi...	ORPHA:183
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Orthopnea, Cyanosis, Abnormal pulmonary thoracic imaging findin...	ORPHA:980
Fanconi Anemia	Leukopenia, Abnormality of the liver, High palate, Hypospadias, Spina bifida, Aplasia/Hypoplasia ...	ORPHA:84
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Vestibular areflexia, Growth delay, Respiratory failure, Dystonia	ORPHA:3240
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Growth delay, Restrictive ventilatory defect, Pallor, Delayed puberty	OMIM:600462
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Diarrhea, Hepatitis, Me...	ORPHA:319218
Myopathic Ehlers-Danlos Syndrome	Pallor, Poor wound healing	ORPHA:536516
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ova...	ORPHA:276280
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure, Short stature, Macrogyria, Titubation	ORPHA:280210
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropa...	ORPHA:85450
Alg12-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Thin upper ...	ORPHA:79324
Sarcoidosis	Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hypo...	ORPHA:797
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:129900
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Tremor, Respiratory failure, Intention tremor	OMIM:616505
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Chronic diarrhea, Abnormal lymphatic vessel...	ORPHA:90362
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Chromosomal breakage induced by crosslinking agents	OMIM:619060
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal respiratory system physiol...	ORPHA:803
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Autoimmune Hemolytic Anemia, Warm Type	Jaundice, Pallor, Exertional dyspnea	ORPHA:90033
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormality of chromosome stability, Aganglionic megacolon, Malabsorption, Abnormal...	ORPHA:175
Fanconi Anemia, Complementation Group P	Pancytopenia, Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Horseshoe kidn...	OMIM:613951
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia, ...	ORPHA:83617
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie...	ORPHA:365
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Metatropic Dysplasia	Severe short stature, Disproportionate short-trunk short stature, Respiratory insufficiency, Resp...	OMIM:156530
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Tremor, Dyspnea, Patent ductus arteriosus, Respiratory insufficiency, Death in ...	OMIM:610505
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Opisthotonus, Choreoathetosis, Growth delay, Respiratory failure	ORPHA:445038
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure	ORPHA:352447
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level, Dental malocclusion, Abnormality of the dentition	ORPHA:1858
Lead Poisoning	Delayed eruption of teeth, Skin rash, Miscarriage, Chronic kidney disease, Imbalanced hemoglobin ...	ORPHA:330015
Idiopathic Localized Lipodystrophy	Pruritus, Inflammatory abnormality of the skin	ORPHA:90158
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Intestinal perforation, Bloody diarrhea, Hyperhidrosis, Tubuloin...	ORPHA:90068
Vici Syndrome	Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate, Neutropenia, Decreased ci...	OMIM:242840
Drug-Induced Autoimmune Hemolytic Anemia	Pallor, Exertional dyspnea	ORPHA:90037
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,...	ORPHA:293173
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Episodic respirator...	ORPHA:1199
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Jaundice, Abnorm...	ORPHA:284
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Jaundice, Pallor	OMIM:266200
Hb Bart'S Hydrops Fetalis	Hydrocephalus, Pallor	ORPHA:163596
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Jaundice, Pallor	OMIM:613839
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Severe postn...	ORPHA:98905
Fanconi Anemia, Complementation Group U	Chromosome breakage, Patent ductus arteriosus, Ectopic kidney	OMIM:617247
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Eczema, Seborrheic dermatitis, High, narro...	ORPHA:369950
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi...	ORPHA:98914
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circu...	ORPHA:79332
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the...	ORPHA:171
Hereditary Bullous Dystrophy, Macular Type	Growth delay, Acrocyanosis, Short stature, Pneumonia	ORPHA:1867
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Patent ductus arteriosus, Tachypnea, Anomalous pulmonary venous return, Hypoxemia	ORPHA:860
Relapsing Polychondritis	Atelectasis, Dyspnea, Erythema, Cough, Abnormal pattern of respiration, Purpura	ORPHA:728
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Neonatal respiratory distress, Apnea, Abnormality of neuronal migration, Respir...	OMIM:608836
Xeroderma Pigmentosum, Complementation Group F	Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet...	OMIM:278760
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Organic aciduria, Vomiting	OMIM:210210
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Anhidrosis, Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopath...	ORPHA:169090
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Villous atrophy, Thin upper lip vermil...	OMIM:212065
Hereditary Motor And Sensory Neuropathy, Type Iic	Stridor, Respiratory failure, Short stature, Intercostal muscle weakness	OMIM:606071
Hsd10 Disease, Infantile Type	Choreoathetosis, Cyanosis, Dystonia	ORPHA:391428
Revesz Syndrome	Oral leukoplakia, Abnormality of chromosome stability, Aplastic anemia, Bone marrow hypocellularity	OMIM:268130
Bloom Syndrome	Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decreased circulating IgG level, ...	ORPHA:125
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Increased circulating IgE level	ORPHA:89843
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Muir-Torre Syndrome	Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Adenoma sebaceum, Colon cancer	ORPHA:587
Zygomycosis	Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumoni...	ORPHA:73263
Familial Tumoral Calcinosis	Skin rash, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, Gingivitis, Hy...	ORPHA:53715
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia	OMIM:620249
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Lymphopenia, Osteomyeli...	OMIM:614162
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Meckel Syndrome 14	Occipital encephalocele, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Pulmonary hypoplasia, ...	OMIM:619879
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Abnormality of the kidney, Keratitis, Increase...	ORPHA:1163
Chronic Granulomatous Disease	Sinusitis, Eczema, Malabsorption, Mediastinal lymphadenopathy, Splenomegaly, Pyloric stenosis, Tr...	ORPHA:379
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Short stature, Pallor	OMIM:611590
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Defective DNA repair after ultra...	OMIM:610965
Sandestig-Stefanova Syndrome	Intrauterine growth retardation, Respiratory failure	OMIM:618804
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Adult-Onset Nemaline Myopathy	High palate, Paraproteinemia, Neuromuscular dysphagia	ORPHA:171442
Alg1-Cdg	Respiratory failure	ORPHA:79327
Primary Biliary Cholangitis	Autoimmunity, Portal hypertension, Increased circulating IgA level, Pruritus, Celiac disease, Jau...	ORPHA:186
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hypothyroidism, Hepatic steatos...	OMIM:615846
Primary Myelofibrosis	Ecchymosis, Pallor, Petechiae, Purpura	ORPHA:824
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B virus antibo...	ORPHA:90003
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Patent ductus arteri...	ORPHA:141127
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pallor, Eosinophilia	ORPHA:90045
Myelofibrosis	Pallor, Purpura	OMIM:254450
Familial Mediterranean Fever	Pericarditis, Intestinal obstruction, Skin rash, Proteinuria, Malabsorption, Orchitis, Splenomega...	ORPHA:342
Histiocytoid Cardiomyopathy	Cyanosis, Hydrocephalus, Tachypnea, Pallor, Cough, Agenesis of corpus callosum, Pulmonary edema	ORPHA:137675
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Death in childhood	OMIM:246450
Congenital Fibrinogen Deficiency	Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage, Opisthotonus	ORPHA:335
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec...	ORPHA:308552
Elliptocytosis 1	Jaundice, Pallor	OMIM:611804
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Apnea, Tremor, Pulmonary artery stenosis, Hydrocephalus, Growth...	ORPHA:667
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Pruritus, Iridocyclitis, Anti...	ORPHA:85436
Multiple Acyl-Coa Dehydrogenase Deficiency	Dyspnea, Cardiorespiratory arrest, Gray matter heterotopia, Restrictive ventilatory defect, Respi...	ORPHA:26791
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial...	ORPHA:563
Fanconi Anemia, Complementation Group N	Nephroblastoma, Aplastic anemia, Chromosomal breakage induced by crosslinking agents	OMIM:610832
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis, Erythroderma	OMIM:302960
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Patent ductus arteriosus, Hepa...	ORPHA:505248
Double Outlet Right Ventricle	Pulmonary artery atresia, Cyanosis, Tachypnea, Short stature	ORPHA:3426
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Patent ductus arteriosus, Cyanosis, Opisthotonus	ORPHA:3304
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Short stature, Redundant skin, Postnatal growth retardation, Abnormal subcut...	ORPHA:357074
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Short stature	OMIM:210050
Dermatomyositis	Recurrent respiratory infections, Abnormal eosinophil morphology, Telangiectasia of the skin, Ery...	ORPHA:221
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Anemia, Hypochromic Microcytic, With Iron Overload 2	Growth delay, Pallor	OMIM:615234
Myopathy, Mitochondrial, And Ataxia	Tremor, Growth delay, Short stature, Pallor	OMIM:617675
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,...	OMIM:275350
Radio-Renal Syndrome	Respiratory distress, Severe short stature, Dyspnea, Respiratory failure, Chylothorax, Pleural ef...	ORPHA:3015
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Aicardi-Goutieres Syndrome 1	Dystonia, Short stature, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Malformation of the hepatic ductal plat...	OMIM:208540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Respiratory failure, Polymicrogyria, Agyria	OMIM:616538
Vici Syndrome	Death in infancy, Decreased circulating IgG2 level, Ureteral atresia, Gray matter heterotopia, Re...	ORPHA:1493
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia	ORPHA:171430
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Cyanosis, Patent ductus arteriosus, Aortopulmonary window, Pulm...	ORPHA:99050
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure, Growth delay	ORPHA:2707
Muscular Dystrophy, Duchenne Type	Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti...	OMIM:310200
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tremor, Pallor	ORPHA:263455
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Growth delay, Respirator...	ORPHA:496641
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Gastroparesis, Reduced level of N-ace...	ORPHA:79329
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Death in infancy, Short stature, Atelectasis, Skin ulcer, Respi...	ORPHA:534
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Tremor, Choreoathetosis, Pallor, Dystonia, Aspiration, Flushing	ORPHA:2131
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Pruritus, Erythema nodo...	OMIM:613471
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Chronic kidney disease...	ORPHA:94059
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Choreoathetosis, Cyanosis, Apnea, Opisthotonus	OMIM:619580
Dominant Beta-Thalassemia	Dyspnea, Jaundice, Skin ulcer, Growth delay, Pallor, Delayed puberty	ORPHA:231226
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi...	ORPHA:99106
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Mala...	ORPHA:793
Irida Syndrome	Pallor	ORPHA:209981
Congenital Disorder Of Glycosylation, Type Ig	Thin upper lip vermilion, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Recurrent pneumo...	OMIM:607143
Chand Syndrome	Atelectasis, Dry skin	ORPHA:1401
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Redundant neck skin, Postnatal growth retardation, Large placenta, Respiratory failure, Umbilical...	ORPHA:254528
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Dys...	OMIM:123700
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Decreased circulating IgG1 level, Intestinal lymphedema, Autoimmunity, Ma...	ORPHA:90363
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Pallor, Flushing	ORPHA:276621
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Ataxia-Telangiectasia	Decreased circulating IgG level, Sinusitis, Decreased circulating IgG2 level, Chronic diarrhea, B...	OMIM:208900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Recu...	ORPHA:508533
Leigh Syndrome	Choreoathetosis, Athetosis, Respiratory failure, Growth delay, Dystonia, Intrauterine growth reta...	ORPHA:506
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Apnea, Respiratory failure	OMIM:617301
Beta-Thalassemia Intermedia	Pulmonary arterial hypertension, Jaundice, Pallor, Skin ulcer	ORPHA:231222
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Redundant skin, Dy...	ORPHA:3342
Hereditary Spherocytosis	Growth delay, Jaundice, Pallor, Skin ulcer	ORPHA:822
Eosinophilic Fasciitis	Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Death in infancy, Splenomegaly, Recurrent pneumonia, Decreased circulating total Ig...	OMIM:612301
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis, Short stature, Growth delay, Pulmonary artery hypoplasia, Delayed puberty	ORPHA:2326
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Lassa Fever	Miscarriage, Jaundice, Diarrhea, Oliguria, Increased circulating IgM level, Conjunctivitis, Dysph...	ORPHA:99824
Aregenerative Anemia	Dyspnea, Bruising susceptibility, Pallor	ORPHA:101096
Childhood Absence Epilepsy	Pallor, Hyperventilation	ORPHA:64280
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Lissencephaly, Pallor, Polymicrogyria, Agenesis of corpus ca...	OMIM:606812
Acquired Purpura Fulminans	Acrocyanosis, Pyoderma gangrenosum, Macular purpura	ORPHA:49566
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Darier-White Disease	Pruritus, Enlargement of parotid gland	OMIM:124200
Viss Syndrome	Chronic gastritis, High, narrow palate, Increased circulating IgG level, Gastroesophageal reflux,...	OMIM:619472
Lethal Acantholytic Erosive Disorder	Intrauterine growth retardation, Respiratory failure, Fragile skin	ORPHA:158687
Say-Barber-Miller Syndrome	Eczema, Erythema nodosum, Cryptorchidism, Carious teeth, Transient hypogammaglobulinemia of infan...	ORPHA:3132
Mogs-Cdg	Hepatomegaly, Hepatosplenomegaly, Hydrocele testis, Chronic constipation, Decreased circulating a...	ORPHA:79330
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Natal tooth, Increased circulating IgA level, Bilateral cryptorchidism, Carious teet...	OMIM:616395
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure	OMIM:614862
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous...	ORPHA:99104
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Cyanosis	ORPHA:488627
Beta-Thalassemia Major	Dyspnea, Jaundice, Skin ulcer, Growth delay, Pallor, Delayed puberty	ORPHA:231214
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Recurrent skin infections, Renal duplication, Oral mucosal blisters, Urinary ...	ORPHA:79403
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Abnormality of the philtrum, Cryptorchidism, Increased circulating IgE level...	ORPHA:3409
Ethylene Glycol Poisoning	Cyanosis, Tachypnea, Episodic respiratory distress, Renal tubular epithelial necrosis, Abnormal p...	ORPHA:31826
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Short stature, Pneumonia	OMIM:617809
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Pallor, Prolonged neonatal jaundice	OMIM:300908
Marburg Hemorrhagic Fever	Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymphocyte morphology, Nausea, Reticuloc...	ORPHA:99826
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Folate-dependent fragile site at Xq28, Elevated circulating growth hormone concen...	ORPHA:85327
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Structural Heart Defects And Renal Anomalies Syndrome	Partial anomalous pulmonary venous return, Partial agenesis of the corpus callosum, Cyanosis, Dea...	OMIM:617478
Dyskeratosis Congenita, Digenic	Abnormality of the dentition, Decreased circulating total IgM, Gastroesophageal reflux, Oral leuk...	OMIM:620040
Dubowitz Syndrome	Delayed eruption of teeth, Aplastic anemia, Eczema, Hypospadias, Carious teeth, Cryptorchidism, V...	OMIM:223370
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Scleromyxedema	Abnormality of thyroid physiology, Abnormality of the kidney, Hypoperistalsis, Pruritus, Narrow m...	ORPHA:167635
Beta-Ketothiolase Deficiency	Tachypnea, Pallor, Cough	ORPHA:134
Interstitial Lung Disease 2	Increased circulating antibody level, Cirrhosis	OMIM:178500
Poems Syndrome	Polycythemia, Primary adrenal insufficiency, Abnormality of skin physiology, Lymphadenopathy, Inc...	ORPHA:2905
Retinitis Pigmentosa 75	Pallor	OMIM:617023
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Tachypnea, Apnea, Pallor	ORPHA:20
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:99125
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia...	OMIM:615636
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Opisthotonus	ORPHA:206436
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Conjunctivitis, Defective DNA repair after ultraviolet radiation damage	OMIM:278740
Fanconi Renotubular Syndrome 5	Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Osteopetrosis, Autosomal Recessive 5	Short stature, Hydrocephalus, Growth delay, Respiratory failure, Stillbirth	OMIM:259720
Trichothiodystrophy 5, Nonphotosensitive	Chronic diarrhea, Chronic decreased circulating IgG1, Wide mouth, Widely spaced primary teeth, Mi...	OMIM:300953
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Pallor	ORPHA:98870
Niemann-Pick Disease Type C	Axial dystonia, Dystonia, Tremor, Jaundice, Abnormal lung morphology, Respiratory insufficiency, ...	ORPHA:646
De Barsy Syndrome	Recurrent sinopulmonary infections, Short stature, Progeroid facial appearance, Postnatal growth ...	ORPHA:2962
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Renal agenesis, Delayed eruption of primary teeth, Aplasia of the paroti...	OMIM:149730
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Truncus Arteriosus	Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi...	ORPHA:3384
Rajab Interstitial Lung Disease With Brain Calcifications 1	Short stature, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, ...	OMIM:613658
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Pleural effusion, Pulmonary edema	OMIM:261740
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess...	OMIM:301074
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Multicystic kidney dysplasia, Recurrent skin infections, Eczema, Aganglionic me...	OMIM:308205
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Pallor, Flushing	ORPHA:29072
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Growth delay, Respiratory failure	OMIM:252010
Malignant Atrophic Papulosis	Pleural effusion, Telangiectasia of the skin, Respiratory failure	ORPHA:679
Treacher Collins Syndrome 1	Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N...	OMIM:154500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Pallor	OMIM:194380
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Conjunctivitis, Defective DNA repair after ultraviolet radiation damage	OMIM:278720
S-Adenosylhomocysteine Hydrolase Deficiency	Growth delay, Respiratory failure	ORPHA:88618
Xeroderma Pigmentosum, Complementation Group A	Keratitis, Conjunctivitis, Defective DNA repair after ultraviolet radiation damage	OMIM:278700
Xeroderma Pigmentosum, Complementation Group D	Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Defective DNA repair after ultraviolet rad...	OMIM:278730
Systemic Mastocytosis With Associated Hematologic Neoplasm	Urticaria, Pallor, Eosinophilia, Flushing	ORPHA:98849
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Yellow Fever	Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating aspartate aminotransferase conc...	ORPHA:99829
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Tarp Syndrome	Intrauterine growth retardation, Cyanosis, Apnea, Pulmonary hypoplasia	ORPHA:2886
Double Outlet Left Ventricle	Patent ductus arteriosus, Pulmonary artery stenosis, Cyanosis, Tachypnea	ORPHA:3427
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Perisylvian polymicrogyria	ORPHA:268943
Alström Syndrome	Abnormality of dental color, Decreased response to growth hormone stimulation test, Urinary incon...	ORPHA:64
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Redundant skin, Cutis laxa, Umbilical hernia, Emphysema	OMIM:219100
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Tremor, Jaundice, Respiratory failure	ORPHA:533
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Growth delay, Pallor	ORPHA:300298
Autosomal Recessive Cutis Laxa Type 1	Severe short stature, Redundant skin, Pneumothorax, Recurrent pneumonia, Lack of skin elasticity,...	ORPHA:90349
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis, Growth ...	OMIM:223900
Benign Schwannoma	Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology	ORPHA:252164
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Redundant neck skin, Miscarriage, Short stature, Postnatal growth retardation, Large placenta, Pu...	ORPHA:96334
De Sanctis-Cacchione Syndrome	Keratitis, Bilateral cryptorchidism, Conjunctivitis, Defective DNA repair after ultraviolet radia...	OMIM:278800
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn...	ORPHA:439232
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Encephalitis Lethargica	Urinary incontinence, Increased circulating antibody level, Autoimmunity, Bowel incontinence	ORPHA:83600
Refractory Anemia With Excess Blasts	Anemic pallor, Exertional dyspnea	ORPHA:86839
Mitochondrial Trifunctional Protein Deficiency	Respiratory failure, Respiratory insufficiency	ORPHA:746
Incontinentia Pigmenti	Pallor, Erythema, Short stature, Eosinophilia	OMIM:308300
Neurofibroma	Recurrent otitis media, Multiple intestinal neurofibromatosis, Intestinal bleeding, Enlargement o...	ORPHA:252183
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Renal tubular epithelial necrosis, Strido...	ORPHA:79404
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Degcags Syndrome	Pneumonia, Patent ductus arteriosus, Asthma, Premature graying of hair, Rhinitis, Pallor, Tracheo...	OMIM:619488
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Proteinuria, Death in infancy, Splenomegaly, Osteoarth...	ORPHA:355
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Bilateral trilobed lung, Cyanosis, Aqueductal stenosis, Patent ductus arter...	OMIM:306955
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Respiratory tract infection, Dyspnea, Pleural empyema, Pallor, Pleuritis	ORPHA:544482
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous...	OMIM:616749
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, High, narrow palate, Hepatoblastoma, Hepatomegaly, Mul...	ORPHA:373
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Urinary incontinence, Reduced cir...	ORPHA:2495
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Anemia, Hematuria, Increased circulating a...	ORPHA:77261
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:2912
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Emphysema, Pulmonary fibrosis	OMIM:620365
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Severe short stature, Dyspnea, Hydrocephalus, Erythema, Growth delay, Respi...	ORPHA:2556
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Short stature, Central hypoventilation, Asthma, Recurrent upper respir...	ORPHA:293987
Familial Dysautonomia	Growth delay, Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology	ORPHA:1764
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ...	OMIM:610655
Cardiac Valvular Dysplasia 2	Central cyanosis, Pulmonary artery dilatation	OMIM:620067
Common Variable Immunodeficiency	Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph...	ORPHA:1572
Prolactinoma	Pallor, Delayed puberty	ORPHA:2965
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Ear-Patella-Short Stature Syndrome	Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Intrauter...	ORPHA:2554
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor, Death in childhood	OMIM:557000
Aortic Arch Interruption	Respiratory distress, Cyanosis, Patent ductus arteriosus, Tachypnea, Aortopulmonary window, Exert...	ORPHA:2299
Adenohypophysitis	Pallor	ORPHA:95512
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Noncommunicating hydrocephalus, Respiratory fa...	ORPHA:805
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Thin upper lip vermilion, Protruding tongue, Simplified gyral pa...	OMIM:617062
Costello Syndrome	Redundant neck skin, Short stature, Hydrocephalus, Pneumothorax, Respiratory insufficiency, Respi...	OMIM:218040
Panhypophysitis	Pallor	ORPHA:95513
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Proportionate short stature, Dysplastic corpus callosum, Patent ductus ...	ORPHA:500150
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflammation, Con...	ORPHA:95455
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Pituitary Apoplexy	Pallor	ORPHA:95613
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Growth delay, Respirato...	ORPHA:731
Myhre Syndrome	Short stature, Patent ductus arteriosus, Respiratory insufficiency, Birth length less than 3rd pe...	OMIM:139210
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ...	ORPHA:565612
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s...	OMIM:602668
Japanese Encephalitis	Neutrophilia, Diarrhea, Increased circulating IgM level, Vomiting, Increased circulating antibody...	ORPHA:79139
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemic pallor	ORPHA:329971
Myasthenia Gravis	Dyspnea, Acrocyanosis	ORPHA:589
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Pallor, Neoplasm of the lung	ORPHA:653
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis, Dysphagia, Nausea	ORPHA:863
Diamond-Blackfan Anemia 1	Intrauterine growth retardation, Spina bifida occulta, Short stature, Pallor	OMIM:105650
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Dermal translucency, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothor...	OMIM:130050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Pallor, Pachygyria, Polymicrogyria, Type II lissencephaly	OMIM:253280
Autosomal Dominant Cutis Laxa	Redundant neck skin, Prematurely aged appearance, Redundant skin, Postnatal growth retardation, E...	ORPHA:90348
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Patent ductus arteriosus...	ORPHA:97214
Tsh-Secreting Pituitary Adenoma	Tremor, Pallor, Delayed puberty	ORPHA:91347
Pitt-Hopkins Syndrome	Postnatal growth retardation, Growth delay, Acrocyanosis, Abnormal pattern of respiration, Hyperv...	ORPHA:2896
Aicardi-Goutières Syndrome	Cutis marmorata, Short stature, Tremor, Dry skin, Prolonged neonatal jaundice, Dystonia, Acrocyan...	ORPHA:51
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Delayed menarche, Upper airway obstruction, Lack o...	ORPHA:740
Ulbright-Hodes Syndrome	Respiratory distress, Postnatal growth retardation, Pneumothorax, Birth length less than 3rd perc...	ORPHA:3404
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Abnormality of the dentition, Neutropenia, Congenital hypothyroidism, Short dental root, Decrease...	OMIM:271510
Abetalipoproteinemia	Respiratory failure	ORPHA:14
Otopalatodigital Syndrome, Type Ii	Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Respiratory insufficien...	OMIM:304120
Diamond-Blackfan Anemia	Growth delay, Short stature, Pallor	ORPHA:124
Steinert Myotonic Dystrophy	Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat...	ORPHA:273
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Dyspnea, Respiratory failure, Severe short stature, Intrauterine growth retardation	ORPHA:2636
Fraser Syndrome 2	Respiratory failure	OMIM:617666
Cysticercosis	Iridocyclitis, Infectious encephalitis, Increased circulating antibody level	ORPHA:1560
Von Hippel-Lindau Disease	Pallor	ORPHA:892
Cardiac Valvular Dysplasia 1	Pulmonary artery atresia, Cyanosis	OMIM:212093
Classical Ehlers-Danlos Syndrome	Striae distensae, Prematurely aged appearance, Poor wound healing, Umbilical hernia, Ecchymosis, ...	ORPHA:287
Congenital Analbuminemia	Miscarriage, Increased circulating antibody level	ORPHA:86816
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level, Dysphagia	OMIM:606002
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Patent ductus arteriosus, Cyanosis	ORPHA:216694
Coffin-Lowry Syndrome	Acrocyanosis, Cutis marmorata, Short stature, Cutis laxa	OMIM:303600
Primary Hyperoxaluria	Acrocyanosis, Cutis marmorata	ORPHA:416
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Cyanosis	ORPHA:51608
Hypermobile Ehlers-Danlos Syndrome	Umbilical hernia, Acrocyanosis, Apnea	ORPHA:285

Histopathology

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

There is no histopathology data for Polb

IMPC related publications

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

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Polb^{tm1a(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Polb^{tm1a(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Polb^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Polb^{tm1a(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Polb^{tm1a(KOMP)Wtsi}	PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Polb^{tm1a(KOMP)Wtsi}	PMC5159622

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Polb^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Polb^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Polb^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Polb MGI:97740

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

DSS Histology

X-ray

Anti-nuclear antibody assay

X-ray

X-ray

X-ray

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Polb mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data