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Gene: E2f2 MGI:1096341

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

E2F transcription factor 2

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by E2f2 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 E2f2 (0 diseases)
Human diseases predicted to be associated with E2f2 (940 diseases)

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

The table below shows human diseases predicted to be associated to E2f2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respira...	ORPHA:444463
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ...	OMIM:247800
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Decreased specific pneumococcal antibody level, G...	OMIM:613496
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton...	OMIM:613779
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Spider hemangioma, Fulminant hepatitis, Increa...	ORPHA:2137
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo...	OMIM:614420
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Nodular pattern on pulmonary HRCT, ...	ORPHA:99931
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy...	OMIM:613953
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Rheumatoid factor positive, Tachypnea, Leukopenia, Increased circulating IgG level, Per...	OMIM:615934
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Antinucl...	OMIM:620321
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc...	ORPHA:3261
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Skin rash, Eczema, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, D...	ORPHA:2584
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Acne, Recurrent skin infections, Ap...	OMIM:300635
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial n...	ORPHA:37042
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia...	OMIM:304790
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ...	ORPHA:443811
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti...	OMIM:619644
Complement Component 4A Deficiency	Purpura, Cutaneous photosensitivity, Glomerulonephritis, Systemic lupus erythematosus	OMIM:614380
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Mediastinal lymphadenopathy, Dyspnea, ...	ORPHA:60026
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th...	OMIM:618534
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Abnormal immunoglobuli...	ORPHA:90159
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Antinuclear antibody positivity, Dyspnea, Tachypnea, Crescentic glome...	OMIM:616414
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:603909
Caspase 8 Deficiency	Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab...	OMIM:607271
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi...	OMIM:619858
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta...	OMIM:607594
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pne...	ORPHA:169160
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Autoimmunit...	ORPHA:47
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili...	ORPHA:139402
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:601859
Quinquaud Folliculitis Decalvans	Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem...	ORPHA:346
Immunodeficiency 48	Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen...	OMIM:269840
Q Fever	Respiratory distress, Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Cough,...	ORPHA:781
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymph...	ORPHA:397596
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ...	ORPHA:329918
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta...	ORPHA:330058
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node germinal cen...	ORPHA:277
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Skin rash...	ORPHA:829
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Rhe...	OMIM:615816
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Autoimmunity, Pure red cell aplasia, Abnormal lymp...	ORPHA:99867
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Acquired Ichthyosis	Renal insufficiency, Recurrent skin infections, Autoimmunity, Erythema, Dry skin	ORPHA:454
Macrophage Activation Syndrome	Increased inflammatory response, Hepatomegaly, Autoimmunity, Elevated circulating aspartate amino...	ORPHA:158061
Cystic Echinococcosis	Abnormal peritoneum morphology, Renal cyst, Elevated gamma-glutamyltransferase level, Peritoneal ...	ORPHA:400
Simple Cryoglobulinemia	Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Mesangial hypercellularity, ...	ORPHA:91139
Erosive Pustular Dermatosis Of The Scalp	Pustule, Scarring alopecia of scalp, Erythema, Abnormal hair morphology	ORPHA:222
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo...	OMIM:209950
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Bullous Impetigo	Recurrent bacterial skin infections, Glomerulopathy, Pustule, Abnormality of the lymphatic system...	ORPHA:36237
Jessner Lymphocytic Infiltration Of The Skin	Erythema, Abnormal lymphocyte morphology, Cutaneous photosensitivity	ORPHA:33314
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Hepatic ste...	OMIM:608709
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Nep...	OMIM:618999
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Na...	OMIM:618806
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Erythema, Incre...	OMIM:147060
Griscelli Syndrome	Hepatomegaly, Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morpholog...	ORPHA:381
Immunodeficiency, Common Variable, 2	Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recur...	OMIM:240500
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Pauci-Immune Glomerulonephritis	Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Cough, ...	ORPHA:93126
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Recurrent urinary tr...	OMIM:618495
Brucellosis	Liver abscess, Rheumatoid factor positive, Bronchitis, Knee osteoarthritis, Leukopenia, Abnormali...	ORPHA:1304
Familial Cold Autoinflammatory Syndrome 3	Recurrent sinopulmonary infections, Allergic rhinitis, Antinuclear antibody positivity, Asthma, E...	OMIM:614468
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Erythema, Enterocolitis, Ulcerative colitis, Decreased propor...	OMIM:614878
Cryoglobulinemic Vasculitis	Viral hepatitis, Renal insufficiency, Hepatomegaly, Proteinuria, Glomerulopathy, Cutis marmorata,...	ORPHA:91138
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Aut...	OMIM:614470
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Urticaria, Erythema, Telangiectasia macularis eruptiva perstans	OMIM:154800
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Legionnaires Disease	Renal insufficiency, Pericarditis, Proteinuria, Abnormal pleura morphology, Myocarditis, Splenome...	ORPHA:549
Immunodeficiency 102	Leukopenia, Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody r...	OMIM:301082
Cutaneous Mastocytoma	Maculopapular exanthema, Telangiectasia of the skin, Dyspnea, Angioedema, Erythema, Darier's sign...	ORPHA:79455
Omenn Syndrome	Hepatomegaly, Alopecia, Autoimmunity, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroi...	ORPHA:39041
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Antinuclear...	ORPHA:536
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Granuloma...	ORPHA:542592
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I...	ORPHA:183675
Porphyria Cutanea Tarda	Scaling skin, Elevated hepatic iron concentration, Hepatic steatosis, Poor wound healing, Chronic...	ORPHA:101330
Bacterial Toxic-Shock Syndrome	Respiratory distress, Myositis, Sinusitis, Fasciitis, Tachypnea, Increased circulating myelocyte ...	ORPHA:36234
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Renal insufficiency, Sinusitis, Pericarditis, Skin...	ORPHA:727
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, Alopecia, Au...	ORPHA:227990
Rosaï-Dorfman Disease	Erythema, Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Abnormal hair morphology, Erythema, Cutaneous photosensitivity, Abnormality ...	ORPHA:317
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Autoimmunity, Progeroid facial appearance, Lymphocytosis, Microscopi...	ORPHA:79087
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Pallor, Decreased proportion of CD3-positive T cells, Decre...	ORPHA:331206
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Autoimmunity, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglob...	ORPHA:98813
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Proteinuria, Autoimmunity, Impaired T cell function, Minimal change glomerulonephrit...	ORPHA:1830
Granulomatous Slack Skin	Redundant skin, Erythema, Abnormal lymph node morphology, Nephrocalcinosis, Cutis laxa, Acute kid...	ORPHA:33111
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Tubuloint...	ORPHA:289390
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Aspergillosis	Sinusitis, Cough, Neutropenia, Infectious encephalitis, Abnormality of the kidney, Chronic pulmon...	ORPHA:1163
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Cholangitis, Autoimmunity, Portal hypertension, Hypersplenis...	ORPHA:228426
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Autoimmunity, Splenomegaly, Erythema, Panniculitis, Inflammatory abnormality of the...	ORPHA:33577
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, Alopecia, Au...	ORPHA:227982
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Emphysema, Hepatic failure	ORPHA:60
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Complement Component C1R/C1S Deficiency	Autoimmunity, Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis	OMIM:216950
Dermatitis Herpetiformis	Autoimmunity, Eczema, Microcytic anemia, Erythema, Urticaria, Skin vesicle	ORPHA:1656
Postinfectious Vasculitis	Rheumatoid factor positive, Gastrointestinal inflammation, Bacterial endocarditis, Acrocyanosis, ...	ORPHA:48435
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura	ORPHA:889
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal...	ORPHA:905
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Autoimmunity, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Pneumonia, ...	ORPHA:83471
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem...	OMIM:308240
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema	ORPHA:90160
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Ulerythema Ophryogenesis	Acne, Facial erythema, Dry skin, Contact dermatitis, Sparse lateral eyebrow	ORPHA:3406
Sydenham Chorea	Septic arthritis, Erythema, Endocarditis, Recurrent streptococcus pneumoniae infections	ORPHA:306731
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Autoimmunity, Splenomegaly, Recurrent upper respiratory tract in...	OMIM:616005
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Immunodeficiency 62	Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Decrea...	OMIM:618459
Autosomal Erythropoietic Protoporphyria	Eczema, Microcytic anemia, Erythema, Decreased liver function, Cirrhosis, Cholelithiasis, Cutaneo...	ORPHA:79278
Igg4-Related Kidney Disease	Rheumatoid factor positive, Lymphadenitis, Abnormal lung morphology, Renal interstitial immunoglo...	ORPHA:449395
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Petechiae, Eczema, Elevated circulating aspartate aminotransf...	OMIM:170100
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Erythema, Colitis	OMIM:219095
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas...	ORPHA:217390
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat...	ORPHA:562639
Dermatitis, Atopic	Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Atopic dermatitis, Facial erythema,...	OMIM:603165
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Hepato...	OMIM:619126
Avian Influenza	Respiratory distress, Nonproductive cough, Tachypnea, Leukopenia, Conjunctivitis, Cough, Infectio...	ORPHA:454836
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy, Pan...	OMIM:619183
Prolidase Deficiency	Hepatomegaly, Recurrent cystitis, Recurrent respiratory infections, Abnormal fingernail morpholog...	ORPHA:742
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Dyspnea, Anti-acetylcholine receptor antibody ...	ORPHA:589
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Antiphospholipid antibody positivity, Petechiae, Chi...	OMIM:225750
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Erythema, Atopic dermatitis, Palmoplantar scaling skin, Scaling skin, Dry skin	ORPHA:530838
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno...	OMIM:602450
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Absent eyebrow, Renal insufficiency, Membranoproliferative ...	OMIM:137940
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
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, ...	OMIM:618394
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng...	ORPHA:3392
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira...	ORPHA:656
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona...	ORPHA:567548
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased...	OMIM:618986
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros...	ORPHA:171
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Hashi...	ORPHA:49041
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoi...	OMIM:616100
Eosinophilopenia	Decreased eosinophil count, Urticaria, Autoimmunity, Allergic rhinitis	OMIM:131430
Complement Component 4B Deficiency	Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media	OMIM:614379
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk...	OMIM:616576
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Alopecia, Lymp...	ORPHA:50918
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	T lymphocytopenia, Increased circulating IgG level, Lymphocytosis, Neutropenia, Decreased proport...	ORPHA:169154
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot...	OMIM:601457
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Aut...	ORPHA:1572
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia	OMIM:602079
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Skin rash, Erythema, Diffuse telangiectasia, Bruising suscep...	ORPHA:280779
Systemic Lupus Erythematosus 17	Lymphopenia, Alopecia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Thrombocytop...	OMIM:301080
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Indolent Systemic Mastocytosis	Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Lymphadenopathy, Darier's sign, U...	ORPHA:98848
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmunity, Spleno...	OMIM:615387
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia,...	OMIM:226990
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er...	ORPHA:87503
Primary Erythromelalgia	Recurrent respiratory infections, Leukemia, Erythema	ORPHA:90026
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat...	ORPHA:39812
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Emphysema, Increased proportion of exhausted T cells, Facial erythema	OMIM:618307
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur...	ORPHA:47612
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:613812
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lack of faci...	ORPHA:90156
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Vibratory Urticaria	Urticaria, Facial erythema, Flushing	OMIM:125630
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Portal hypertension, ...	OMIM:613385
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Systemic Sclerosis	Acral ulceration, Alopecia, Abnormality of the kidney, Digital ulcer, Pulmonary fibrosis, Acute k...	ORPHA:90291
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce...	OMIM:618935
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Fine hair, Nephrotic syndrome, Glomerula...	OMIM:619428
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disea...	OMIM:614376
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Hypertrichosis	OMIM:617524
Maculopapular Cutaneous Mastocytosis	Dyspnea, Erythema, Darier's sign, Dermatographic urticaria, Elevated total serum tryptase, Genera...	ORPHA:79457
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalitis, Autoimmune thr...	ORPHA:391487
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Autoimmunity, Decreased circu...	OMIM:609529
Psoriasis 14, Pustular	Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Erythema, Oligoarthrit...	OMIM:614204
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Renal fibrosis, Leukopenia, Decreased glomerular filtration rate, H...	ORPHA:470
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase	OMIM:162830
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Eczema, Erythema, Cholelithiasis, Hepatic failure	OMIM:177000
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Pneumonia, Pure red c...	OMIM:613179
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Bronchitis, Enuresis nocturna, Scaling ...	ORPHA:420741
Chronic Mucocutaneous Candidiasis	Recurrent respiratory infections, Recurrent urinary tract infections, Skin rash, Abnormal fingern...	ORPHA:1334
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin, Leukocytosis, Erythe...	ORPHA:99812
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas...	OMIM:617638
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur...	OMIM:619824
Bullous Pemphigoid	Psoriasiform dermatitis, Autoimmunity, Eczema, Erythema, Urticaria	ORPHA:703
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr...	ORPHA:79303
Sjögren-Larsson Syndrome	Urticaria, Erythema, Dry skin, Inflammatory abnormality of the eye	ORPHA:816
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Erythema, Systemic lupus erythematosus, Increased circulating antibody lev...	ORPHA:48377
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Peeling Skin Syndrome 3	Abnormal hair morphology, Erythema, White scaling skin	OMIM:616265
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Neonatal Alloimmune Neutropenia	Antineutrophil antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Pneumon...	ORPHA:464370
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Increased circulating IgA level, Peritonitis, Erythema, Lymphadenopathy, Urticaria,...	ORPHA:343
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Pancytopenia, Proteinuria, Pneumonia, Skin rash, Autoimmune thromboc...	ORPHA:1855
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Recurrent upper respiratory tra...	OMIM:209920
Melioidosis	Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infe...	ORPHA:31202
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Dyspnea, Chronic pu...	OMIM:613490
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph...	OMIM:613101
Lymphoproliferative Syndrome 1	Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopeni...	OMIM:613011
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati...	OMIM:615285
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Cervical lymphadenopathy, Urticaria, Decreased circulating tota...	OMIM:618987
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr...	ORPHA:100024
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Facial erythema, Nail dystrophy, Nail dysplasia, Dry skin	OMIM:212360
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,...	ORPHA:486
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly...	OMIM:608184
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Autoimmunity, Eczema, Megaloblastic anemia, Anem...	OMIM:617780
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Urticaria, Arthritis, Incre...	ORPHA:37748
Mycosis Fungoides	Erythema, Psoriasiform dermatitis, Eczema, Lymphadenopathy	OMIM:254400
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Autoimmunity, Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infect...	ORPHA:1303
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Respiratory insufficiency, Hematu...	ORPHA:375
Acral Peeling Skin Syndrome	Scaling skin, Erythema, Eczema, Excessive wrinkling of palmar skin	ORPHA:263534
Actinic Prurigo	Cheilitis, Cutaneous photosensitivity, Pyoderma, Glomerulonephritis	OMIM:174770
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Bro...	OMIM:619381
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Primary Biliary Cholangitis	Autoimmunity, Portal hypertension, Increased circulating IgA level, Antinuclear antibody positivi...	ORPHA:186
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Angioma Serpiginosum	Erythema, Vascular skin abnormality	ORPHA:95429
Keratosis Pilaris Atrophicans	Absent eyelashes, Erythema, Sparse eyebrow	OMIM:604093
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Scaling skin	ORPHA:90158
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Widow's peak, Bronchiolitis, Periodontitis, Reduction of neutrophil moti...	OMIM:266265
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Perianal erythema, Impaired T cell function, Splenomegaly, Paronychia, Low alkaline...	OMIM:201100
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Lymphatic Filariasis	Wheezing, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Ab...	ORPHA:2035
Goodpasture Syndrome	Nodular pattern on pulmonary HRCT, Crackles, Tachypnea, Pallor, Cough, Anti-glomerular basement m...	OMIM:233450
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency	ORPHA:139406
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Abnormali...	ORPHA:2552
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro...	OMIM:618348
Relapsing Polychondritis	Uveitis, Conjunctivitis, Cough, Chondritis, Glomerulopathy, Alopecia, Atelectasis, Hepatitis, Scl...	ORPHA:728
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, ...	ORPHA:32960
Hypocomplementemic Urticarial Vasculitis	Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Glomerulopathy, Angioedema, Lymphadenopa...	ORPHA:36412
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near...	OMIM:614699
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic...	ORPHA:2968
Orthostatic Hypotensive Disorder, Streeten Type	Bruising susceptibility, Facial erythema	OMIM:143850
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Erythema, Rheumatoid factor positive, Rheumatoid arthritis	ORPHA:79099
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl...	OMIM:618852
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C...	ORPHA:340
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Conjunctiviti...	OMIM:603552
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Urticaria, Arthritis, R...	OMIM:611762
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Skin rash	OMIM:619175
Snakebite Envenomation	Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis, Acute ki...	ORPHA:449285
Trichohepatoenteric Syndrome 2	Hepatomegaly, Brittle hair, Chronic hepatitis, Colitis, Uncombable hair, Cirrhosis, Sparse hair, ...	OMIM:614602
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Antiphospholipid antibody positivity, Rheumat...	ORPHA:90060
Niemann-Pick Disease, Type B	Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Thrombocytopenia, Splenom...	OMIM:607616
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Petechiae, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ...	OMIM:620296
Pediatric Systemic Lupus Erythematosus	Myositis, Leukopenia, Lupus anticoagulant, Nephritis, Alopecia, Lymphadenopathy, Nephrotic syndro...	ORPHA:93552
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Crackles, Nonproductive cough, Leukocytosis, Atelectasis, Hypereosinophilia, Atopic...	ORPHA:2902
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Paronychia, Increased circulating IgE level, Perioral erythema, Eryth...	OMIM:614328
Congenital Enterovirus Infection	Respiratory distress, Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leuk...	ORPHA:292
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephroc...	OMIM:613404
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythem...	OMIM:612843
Familial Hemophagocytic Lymphohistiocytosis	Colitis, Neutropenia, Ecchymosis, Infectious encephalitis, Hepatomegaly, Maculopapular exanthema,...	ORPHA:540
Immunodeficiency 56	Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin...	OMIM:615207
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Incontinentia Pigmenti	Ridged nail, Uveitis, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Alopecia, Macu...	OMIM:308300
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Osteoarthrit...	ORPHA:342
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Desquamative inte...	OMIM:615952
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Erythema, Crusting erythematous dermatitis, Telangiec...	ORPHA:158673
Rheumatic Fever	Pericarditis, Sinusitis, Epistaxis, Abnormal pleura morphology, Myocarditis, Recurrent pharyngiti...	ORPHA:3099
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Sparse hair, Pili torti	OMIM:607903
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	T lymphocytopenia, Scaling skin, Alopecia universalis, Hemolytic anemia, Psoriasiform dermatitis,...	OMIM:606367
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Recurrent urinar...	OMIM:620210
Mixed Connective Tissue Disease	Myositis, Leukopenia, Nephropathy, Hemolytic anemia, Hepatomegaly, Alopecia, Mediastinal lymphade...	ORPHA:809
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Pall...	ORPHA:3260
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Hepatitis, Sparse lateral eyebrow	ORPHA:363523
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eos...	OMIM:618282
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Increased circulating lactat...	ORPHA:824
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De...	OMIM:614069
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect...	OMIM:615518
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Respiratory paralysis, C...	OMIM:121300
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosidase a...	OMIM:230350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Cernunnos-Xlf Deficiency	Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho...	ORPHA:169079
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa...	ORPHA:79124
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb...	ORPHA:507
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ...	OMIM:610163
Tempi Syndrome	Transudative pleural effusion, Abnormality of the kidney, Facial erythema, Hypoxemia, Telangiecta...	ORPHA:284227
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas...	OMIM:618108
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Paronychia, Abnormality of the liver, ...	ORPHA:228119
Progressive Symmetric Erythrokeratodermia	Erythema	ORPHA:316
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu...	OMIM:308800
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hepatitis, Skin ulcer, Onycholysis	ORPHA:525
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N...	OMIM:105200
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Systemic lupus erythematosus, Leukopen...	OMIM:616871
Sézary Syndrome	Hepatomegaly, Alopecia, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, ...	ORPHA:3162
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutrop...	OMIM:301078
Dietary Iron Overload Disease	Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Peritonitis, Micronodular cirrhosis, Abn...	ORPHA:139507
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Polyarteritis Nodosa	Pericarditis, Cutis marmorata, Abnormality of the kidney, Abnormal lung morphology, Erythema, Ski...	ORPHA:767
Familial Tumoral Calcinosis	Hepatomegaly, Skin rash, Splenomegaly, Erythema, Nephrocalcinosis	ORPHA:53715
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Erythema Of Acral Regions	Erythema	OMIM:227000
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Ang...	ORPHA:761
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Synophrys, Low anterior hairline, Leukopenia, Coarse hair, Macrovesicular h...	OMIM:617303
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D...	ORPHA:275
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun...	ORPHA:100026
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Anti-thyroid peroxidase antibo...	OMIM:610199
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Autoimmunity, Alopecia, Telangiectasia of the skin, Dyspnea, E...	ORPHA:93672
Babesiosis	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngiti...	ORPHA:108
Microlissencephaly	Pneumonia	ORPHA:1083
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Generalized lymphadenopathy, Skin rash, Pneumonia, Chilblai...	OMIM:615846
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Keratolytic Winter Erythema	Erythema	OMIM:148370
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Leukopenia, Increased circulatin...	ORPHA:319218
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Acute hepatic failur...	ORPHA:537
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Rheumatoid factor positive, Increased circulating IgA level, Antinuclear antibod...	OMIM:619632
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Purpura, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, ...	OMIM:607944
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Hy...	ORPHA:436252
Stevens-Johnson Syndrome	Acute hepatic failure, Recurrent respiratory infections, Renal insufficiency, Elevated hepatic tr...	ORPHA:36426
Kawasaki Disease	Pericarditis, Abnormality of nail color, Proteinuria, Skin rash, Myocarditis, Leukocytosis, Cervi...	ORPHA:2331
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash...	OMIM:618549
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epi...	OMIM:307200
Familial Cold Urticaria	Urticaria, Arthritis, Erythema, Conjunctivitis	ORPHA:47045
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, System...	ORPHA:90033
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thromboc...	OMIM:603554
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Portal hypertension, Neonatal asphyxia, Hepatitis, Cholestasis, Hypochromic ...	ORPHA:440713
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa, Anemia	OMIM:608068
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Compl...	OMIM:557000
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Aminoaciduria, Jaundice	ORPHA:79238
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Benign Chronic Pemphigus	Erythema	OMIM:169600
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema	Erythema migrans	OMIM:609352
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema	OMIM:617526
Annular Erythema	Erythema	OMIM:106500
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Abnormal fingernail morpho...	ORPHA:75564
Yellow Nail Syndrome	Recurrent respiratory infections, Renal neoplasm, Sinusitis, Abnormal fingernail morphology, Bili...	ORPHA:662
Cold Agglutinin Disease	Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, Lymphadenopat...	ORPHA:56425
Hepatoportal Sclerosis	Elevated hepatic transaminase, Anticardiolipin IgG antibody positivity, Portal hypertension, Port...	ORPHA:64743
Dermatomyositis	Abnormal hair quantity, Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morph...	ORPHA:221
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Diffuse alveolar hemorrhage, Reduced natural killer cell activity, Splen...	OMIM:616050
Bloom Syndrome	Decreased circulating IgG level, Elevated hemoglobin A1c, Recurrent upper respiratory tract infec...	OMIM:210900
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Petechiae, Sple...	OMIM:612840
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent skin infections, Asthma, Recurrent pneumonia, Recurren...	OMIM:619752
Igg4-Related Aortitis	Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti...	ORPHA:449400
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,...	ORPHA:411593
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Brain abscess, Lung abscess, Cyanosis, Pneumonia, Anti-granuloc...	OMIM:610910
Non-Epidermolytic Palmoplantar Keratoderma	Erythema, Skin ulcer	ORPHA:2337
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Alopecia, Asplenia, Iridocyclitis, Chronic mucocuta...	OMIM:240300
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c...	OMIM:615482
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Pancytopenia, Skin rash, Aplastic ...	ORPHA:398124
Preeclampsia	Elevated hepatic transaminase, Proteinuria, Autoimmunity, Abnormality of the kidney, Chronic kidn...	ORPHA:275555
Pemphigus Foliaceus	Psoriasiform dermatitis, Autoimmunity, Pustule, Crusting erythematous dermatitis, Erythema, Scali...	ORPHA:79481
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Urachal Cyst	Abdominal mass, Dysuria, Abscess, Pyuria, Peritonitis, Leukocytosis, Urachus fistula, Erythema, H...	ORPHA:488
Slc35A1-Cdg	Respiratory distress, Subcutaneous hemorrhage, Pneumonia, Giant platelets, Hypoxemia, Neutropenia...	ORPHA:238459
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa...	ORPHA:85414
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Cheilitis, Ski...	ORPHA:37
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ...	OMIM:617388
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi...	OMIM:243700
Immunodeficiency 22	Decreased circulating IgG level, Pericarditis, Autoimmunity, Abscess, Thrombocytopenia, Recurrent...	OMIM:615758
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Atrophoderma Vermiculata	Erythema	ORPHA:79100
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Lymphoid Interstitial Pneumonia	Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect...	ORPHA:79128
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re...	OMIM:612444
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin...	OMIM:214900
Localized Scleroderma	Fasciitis, Abnormal skin adnexa morphology, Autoimmunity, Abnormality of the kidney, Abnormality ...	ORPHA:90289
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Port...	OMIM:615688
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Abnormal pleura morphology, Splenomegaly, Hepatitis, Mucopolysa...	ORPHA:584
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th...	ORPHA:158057
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Tubulointerstitial nephritis, Cough, Acrocyanosis, Glomerulopathy, Respirato...	ORPHA:183
Blau Syndrome	Abnormality of the liver, Posterior uveitis, Nephropathy, Retrobulbar optic neuritis, Skin ulcer,...	ORPHA:90340
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic h...	OMIM:269200
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Urticaria, Nephrotic syndrome, Arth...	ORPHA:575
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti...	ORPHA:73263
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Drug-Induced Lupus Erythematosus	Pericarditis, Petechiae, Antinuclear antibody positivity, Thrombocytopenia, Dyspnea, Autoimmune a...	ORPHA:231111
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Dyspnea, Pneumothorax,...	OMIM:612387
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Mal De Meleda	Perioral erythema, Fragile nails	OMIM:248300
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Proteasome-Associated Autoinflammatory Syndrome 1	Cardiomegaly, Microcytic anemia, Premature graying of hair, Increased circulating IgG level, Conj...	OMIM:256040
Incontinentia Pigmenti	Alopecia, Skin rash, Eosinophilia, Abnormal fingernail morphology, Supernumerary nipple, Keratiti...	ORPHA:464
Bloom Syndrome	Bronchitis, Paronychia, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proport...	ORPHA:125
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Idiopathic Achalasia	Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough	ORPHA:930
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic o...	ORPHA:169090
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Abnormality of the kidney, Antinuclear antibody positivity, Systemic lupus erythema...	OMIM:609939
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Wilson Disease	Acute hepatic failure, Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hemolytic anemia, Hepato...	OMIM:277900
Ifap Syndrome 2	Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail dystrophy, ...	OMIM:619016
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Acute hepatitis, Homocitrullinuria, Decreased liver function, Hepatomegaly	OMIM:238970
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Erythema, Respiratory insufficiency, Urticaria, Skin vesic...	ORPHA:2135
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg...	ORPHA:59303
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, Bruising susceptibility, H...	ORPHA:231401
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Immunodeficiency 58	Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ...	OMIM:618131
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Petechiae, Epistaxis, Portal hypertension, Nodular r...	OMIM:619463
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:614480
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Respiratory tract infection, Dyspnea, Chro...	ORPHA:567546
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Autoimmunity, Leukocytosis, Abnormal lactate dehydrogenase level, Bone ma...	ORPHA:98827
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ...	ORPHA:251004
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Chronic...	OMIM:242860
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Renal insufficiency, Chronic active hepatitis, ...	OMIM:203800
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp...	ORPHA:36238
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno...	OMIM:616828
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria	ORPHA:100057
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Unilateral r...	OMIM:614576
Infantile Sialic Acid Storage Disease	Hepatomegaly, Fair hair, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, ...	OMIM:269920
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er...	OMIM:104100
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Dyspnea, Splenomegaly, Pallor, Anemia	ORPHA:75563
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez...	OMIM:613807
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus eryt...	ORPHA:90036
Gray Platelet Syndrome	Splenomegaly, Bruising susceptibility, Epistaxis, Thrombocytopenia	ORPHA:721
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Neonatal respiratory...	OMIM:614748
Shigellosis	Pneumonia, Abscess, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, Urethritis, Leukocytosis...	ORPHA:810
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Cough, Abnorm...	ORPHA:77260
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate...	OMIM:214950
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we...	ORPHA:2590
Fixed Drug Eruption	Stomatitis, Erythema, Crusting erythematous dermatitis, Generalized abnormality of skin	ORPHA:293812
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Chronic Graft Versus Host Disease	Fasciitis, Cough, Skin vesicle, Alopecia, Poor wound healing, Bronchiectasis, Skin ulcer, Bronchi...	ORPHA:99921
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Mediastinal lymphadenopathy, Hypersensitivity pneumo...	ORPHA:133
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Scaling skin	OMIM:617571
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Hyperconvex nail, Angular cheilitis, Onychogryposis, Recurre...	ORPHA:495
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Lymphadenopathy, Pr...	ORPHA:79477
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Thrombocytopenia, Jaundice, Hepatitis, Uveitis, Hematur...	ORPHA:319251
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis	OMIM:608957
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Glomerulopa...	ORPHA:77297
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,...	ORPHA:542643
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:278000
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Neonatal respiratory distress, Erythema, Apnea	OMIM:610015
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor...	ORPHA:294023
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia of liver, ...	ORPHA:247691
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Necrolytic migratory erythema, Stomatitis, Cholelithiasis, Abnormal bil...	ORPHA:438274
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-...	OMIM:619774
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Recurrent upper resp...	OMIM:614868
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenom...	ORPHA:77259
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
American Trypanosomiasis	Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Autoimmune antibody positivity, Dyspnea, Lymp...	ORPHA:3386
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha...	ORPHA:42642
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Recurrent skin infections, Erythema, Decreased circulating antibody level, Anemia, Nail...	ORPHA:79396
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno...	OMIM:607626
Melas	Proteinuria, Erythema, Focal segmental glomerulosclerosis, Pulmonary arterial hypertension, Proxi...	ORPHA:550
Pruritic Urticarial Papules And Plaques Of Pregnancy	Facial erythema, Skin vesicle, Palmoplantar erythema, Eczematoid dermatitis, Striae distensae	ORPHA:64745
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmunity, Autoimm...	ORPHA:760
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Sea-Blue Histiocytosis	Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Bleph...	ORPHA:158029
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati...	ORPHA:231222
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Neutrope...	ORPHA:79312
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Autoimmunity, Eosinophilia, Hepatitis, Dry skin, Hashimoto ...	ORPHA:199299
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Erythema, Dry sk...	OMIM:257980
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Nail pits, P...	OMIM:127550
Hereditary Orotic Aciduria	Recurrent respiratory infections, Orotic acid crystalluria, Impaired T cell function, Splenomegal...	ORPHA:30
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs...	ORPHA:35078
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Thick hair, Spleno...	OMIM:613489
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Cutis laxa, Decreased circulating antibody level, C...	OMIM:605309
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Retrobulbar optic neuritis, Leukocytosis, Splenomegaly,...	ORPHA:1451
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Rhinitis, Generalized hirsutism	ORPHA:93476
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Asthma, Dry skin, Scaling skin, Erythema	OMIM:614457
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Abnormal fingernail morphology, Asthma, Bronchiectasis, Respirato...	ORPHA:1164
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Immunodeficiency 43	Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif...	OMIM:241600
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Alopecia, Proteinuria, Pneumonia, Skin rash, Autoimmunity, Antinuclear antibody...	ORPHA:2298
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Patchy alopecia, Iritis, Decr...	OMIM:109650
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ...	ORPHA:379
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Neoplasm of the lung, Sparse hair	ORPHA:659
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Free Sialic Acid Storage Disease	Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, Skin ulcer, Nephrotic ...	ORPHA:834
Poikiloderma With Neutropenia	Skin rash, Sparse eyebrow, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent pneumon...	OMIM:604173
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Eczema, Abnormal preputium morphology, Abnormality of the urethra, Pu...	ORPHA:2907
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Thrombocytopenia, Sp...	OMIM:617591
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Pituitary Adenoma 4, Acth-Secreting	Striae distensae, Poor wound healing, Nephrolithiasis, Facial erythema, Ecchymosis, Bruising susc...	OMIM:219090
Brachydactylous Dwarfism, Mseleni Type	Increased inflammatory response, Autoimmunity, Knee osteoarthritis, Hip osteoarthritis, Osteoarth...	ORPHA:2619
Adams-Oliver Syndrome 6	Cutis marmorata, Portal hypertension, Hypoplastic toenails, Splenomegaly, Renal hypoplasia, Hepat...	OMIM:616589
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Abnormality of ...	ORPHA:90117
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Leukonychia, Nail dystrophy, Woolly hair, Fragile nails	OMIM:615821
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Immunodeficiency 54	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphade...	OMIM:609981
Nail-Patella Syndrome	Ridged nail, Renal insufficiency, Proteinuria, Glomerulonephritis, Concave nail, Hematuria, Nephr...	OMIM:161200
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia, Abnormality of...	ORPHA:290
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Patent ductus arteriosus, Erythema, Arthritis, Eczematoid ...	OMIM:259100
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Hypospadias, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia,...	OMIM:618253
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato...	OMIM:158310
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Pallor, Exertional dyspnea	ORPHA:90037
Febrile Infection-Related Epilepsy Syndrome	Sinusitis, Autoimmunity, Cough	ORPHA:163703
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Alopecia, Telangiectasia of the skin, Renal ...	ORPHA:2092
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ...	OMIM:612541
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Pancytopenia, Erythema, Skin rash	OMIM:618321
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k...	ORPHA:79408
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Autoimmunity	OMIM:612227
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recurren...	OMIM:252920
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic stea...	OMIM:612526
Cocaine Intoxication	Respiratory distress, Pulmonary edema, Proteinuria, Glomerulonephritis, Diffuse alveolar hemorrha...	ORPHA:90068
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Thrombocytopenia, Micronodular cirrhosis, Splenomegaly, Patent ductus...	OMIM:606003
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Bone marrow hy...	ORPHA:391
Syndromic Diarrhea	Brittle hair, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepatic fibrosis, Hepa...	ORPHA:84064
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Niemann-Pick Disease, Type A	Hepatomegaly, Recurrent respiratory infections, Elevated circulating aspartate aminotransferase c...	OMIM:257200
Chikungunya	Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Cervical lymphadenopathy, Crusti...	ORPHA:324625
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Hepatomegaly, Absent platelet dense granules, Fair hair, Albinism, Redu...	OMIM:608233
Scedosporiosis	Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Bronchial br...	ORPHA:449280
Pediatric-Onset Graves Disease	Episcleritis, Hepatomegaly, Elevated hepatic transaminase, Autoimmunity, Keratitis, Splenomegaly,...	ORPHA:525731
Fountain Syndrome	Synophrys, Erythema, Cutis marmorata, Thick eyebrow	ORPHA:3219
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urinary tract infections, Decre...	ORPHA:221139
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti...	OMIM:244400
Kindler Epidermolysis Bullosa	Urethral stricture, Recurrent skin infections, Phimosis, Erythema, Neoplasm of the urethra, Cheil...	ORPHA:2908
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Erythema nodosum, Antinuclear antibody positivity, S...	OMIM:613471
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Autoimmunity, Decreased circulating IgA level	OMIM:137100
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc...	ORPHA:555905
Lujo Hemorrhagic Fever	Respiratory distress, Lymphopenia, Renal insufficiency, Increased circulating lactate dehydrogena...	ORPHA:319213
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Spo...	OMIM:214500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ...	ORPHA:533
Sepsis In Premature Infants	Hepatomegaly, Cyanosis, Petechiae, Abnormal mucociliary clearance, Thrombocytopenia, Leukocytosis...	ORPHA:90051
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Mccune-Albright Syndrome	Hyperphosphaturia, Pancytopenia, Hepatitis, Cholestasis, Hepatocellular adenoma, Renal phosphate ...	ORPHA:562
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC...	ORPHA:79126
Xeroderma Pigmentosum, Complementation Group F	Erythema, Cutaneous photosensitivity	OMIM:278760
Granulomatosis With Polyangiitis	Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Glomerulopathy, Ureteral st...	ORPHA:900
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Proteinuria, Thrombocytopenia, Osteoarthritis, Splenom...	ORPHA:355
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Scaling skin, Erythema, Abnormality of the nail	OMIM:607602
Chops Syndrome	Curly hair, Thick eyebrow, Thick hair, Tracheomalacia, Splenomegaly, Patent ductus arteriosus, Sy...	OMIM:616368
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Psoriasiform dermatitis, Severe B lymphocytopenia, Alopecia totalis, Autoimmune thrombo...	ORPHA:293978
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Petechiae, Thrombocytopenia, Patent ductus arter...	OMIM:617053
Vulvovaginal Gingival Syndrome	Ridged nail, Erythema	ORPHA:83453
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Splenomegaly, Aplas...	ORPHA:2930
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Overlap Myositis	Elevated hepatic transaminase, Autoimmunity, Abnormality of the kidney, Antinuclear antibody posi...	ORPHA:206572
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ...	ORPHA:228123
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Splenomegaly, Dyspnea, Lymphadenop...	ORPHA:83317
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,...	OMIM:615468
Kaposiform Lymphangiomatosis	Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system,...	ORPHA:464329
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Telangiectasia...	OMIM:235200
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia	ORPHA:163596
Acute Disseminated Encephalomyelitis	Viral hepatitis, Respiratory failure requiring assisted ventilation, Anti-myelin oligodendrocyte ...	ORPHA:83597
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Apnea, Fetal ascites, Synophrys, Facial erythema, Scaling skin, Chronic otitis media, Aspiration,...	OMIM:619503
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, He...	ORPHA:509
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, Abnormal hair morphology, Erythema, Small nail	OMIM:242100
Adiposis Dolorosa	Recurrent skin infections, Autoimmunity, Sparse axillary hair, Telangiectasia of the skin, Sparse...	ORPHA:36397
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Pneumonia, Dyspnea, Nonproductive cough, Ast...	ORPHA:97287
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Cyanosis, Splenomegaly, Chronic pulmonary obstruction, Cough,...	ORPHA:2414
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Premature graying of hair, Restrictive ventil...	OMIM:619767
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega...	OMIM:260920
Complex Regional Pain Syndrome	Dry skin, Abnormality of hair growth, Slow-growing nails, Erythema	ORPHA:83452
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Respiratory insufficiency, Arthritis, Lipogranulomatosis, Decreased a...	OMIM:228000
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recurrent upper respir...	OMIM:252900
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey...	ORPHA:2273
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Macrocyti...	ORPHA:398063
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Pallor, Poik...	OMIM:300908
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Congenital Isolated Acth Deficiency	Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Cryptococcosis	Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Autoimmunity, Nodular pattern ...	ORPHA:1546
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Cutis marmorata, Epistaxis, Abnormality of ...	ORPHA:33226
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Linear Iga Dermatosis	Epistaxis, Inflammation of the large intestine, Autoimmunity, Renal neoplasm	ORPHA:46488
Alpha-Mannosidosis, Adult Form	Hepatosplenomegaly, Pancytopenia, Pneumonia, Oligosacchariduria	ORPHA:309288
Chédiak-Higashi Syndrome	Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Periodo...	ORPHA:167
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, Nail dystrophy, Atrichia, Acrocyanosis	ORPHA:1867
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recurrent upper respir...	OMIM:252930
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, C...	OMIM:615895
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233710
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Skin vesicle, Skin fragility with non-scarring blistering, Nail dystrophy, Erythema migrans	ORPHA:158681
Fanconi Anemia, Complementation Group F	Pneumonia, Thrombocytopenia, Patent ductus arteriosus, Renal hypoplasia, Leukopenia, Microphallus...	OMIM:603467
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Periodontitis, Sparse hair, Sk...	ORPHA:1775
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n...	ORPHA:90062
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin, Pneumonia	ORPHA:319552
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Palmoplantar scaling skin, Nail dystrophy, Palmoplant...	OMIM:605676
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Alopecia totalis, Erythema, Facial erythema, Sparse or absent eyelashes, Aplasia...	ORPHA:221016
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Poor wound healing, Sparse eyeb...	ORPHA:1010
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Respiratory distress, Paronychia, Renal cyst, Gastrointestinal inflammation, ...	ORPHA:79404
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell...	OMIM:603553
Antisynthetase Syndrome	Recurrent respiratory infections, Myositis, Skin rash, Autoimmunity, Telangiectasia of the skin, ...	ORPHA:81
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Petechiae, Splenomegaly, Jaundi...	OMIM:251290
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233690
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:306400
Chime Syndrome	Abnormality of the kidney, Erythema, Skin ulcer, Fine hair, Acute leukemia, Sparse hair, Hydronep...	ORPHA:3474
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Intrahe...	ORPHA:97282
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Keratitis, Erythema, Dry skin,...	ORPHA:910
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Dyspnea, Bronchie...	OMIM:620233
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp...	ORPHA:178320
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h...	OMIM:615234
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, B...	OMIM:617092
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Ataxia-Telangiectasia	Conjunctival telangiectasia, Decreased circulating IgG level, Sinusitis, Abnormal hair morphology...	OMIM:208900
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ...	OMIM:616084
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
H Syndrome	Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Abnormality of the kidney, Microc...	ORPHA:168569
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splen...	OMIM:611881
Limited Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Autoimmunity, Skin ulcer, Pulmonary fibrosis, Pulmonary arterial hype...	ORPHA:220402
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi...	ORPHA:70587
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Angioedema, Hereditary, 1	Angioedema, Erythema, Autoimmunity	OMIM:106100
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Skin rash, Acanthocytosis, Necrolytic migratory erythema,...	ORPHA:97280
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Interstitial pneumonitis, Granu...	ORPHA:454831
Erythrocytosis, Familial, 1	Plethora, Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit...	OMIM:133100
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti...	OMIM:601495
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Hypopigmentation of hair, Splenomegaly	OMIM:618541
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lympho...	OMIM:619991
Biotinidase Deficiency	Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Splen...	OMIM:253260
Trichohepatoenteric Syndrome 1	Hepatomegaly, Curly hair, Brittle hair, Hypospadias, Increased mean platelet volume, Abnormality ...	OMIM:222470
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Lysinuric Protein Intolerance	Hepatomegaly, Thrombocytopenia, Splenomegaly, Stage 5 chronic kidney disease, Respiratory insuffi...	OMIM:222700
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Abno...	OMIM:216360
Sunct Syndrome	Flushing, Facial erythema, Rhinorrhea	ORPHA:57145
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Hepatitis, Decreased liver function, Hepa...	ORPHA:415
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Leukopenia, Neutropenia, Pa...	ORPHA:811
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Decreased iduronate sulfatase level, Heparan sulfate excretion in urine, Splenomega...	OMIM:309900
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Stag...	OMIM:249100
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induc...	OMIM:153670
Scorpion Envenomation	Acute pancreatitis, Ketonuria, Purpura, Elevated circulating aspartate aminotransferase concentra...	ORPHA:466677
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El...	OMIM:235555
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte...	ORPHA:95430
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,...	OMIM:211600
Alström Syndrome	Respiratory distress, Urinary incontinence, Functional abnormality of the bladder, Hepatic fibros...	ORPHA:64
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi...	ORPHA:2357
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Leukonychia	OMIM:617525
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Urticaria, Splenomegaly, Pancytopenia	OMIM:614979
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo...	OMIM:613673
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Alopecia totalis, Facial erythema, Telangiectasia, Sparse or absent eyelashes, A...	ORPHA:221008
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Hepa...	OMIM:181000
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase...	ORPHA:3202
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo...	ORPHA:70578
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Autoimmunity, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormali...	ORPHA:449432
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Elevated circulating...	OMIM:601847
Ichthyosis, Annular Epidermolytic, 2	Erythema, Scaling skin	OMIM:620148
Kcnq2-Related Epileptic Encephalopathy	Apnea, Pallor, Facial erythema	ORPHA:439218
Pemphigus Vulgaris	Urticaria, Recurrent cutaneous abscess formation, Autoimmunity	ORPHA:704
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ectodermal dysplasia, Atrichia, Periungual erythema, Scaling skin, Dystrophic fingernails, Absent...	OMIM:308205
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem...	ORPHA:31204
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Unilateral renal agenesis, Erythema, Pulmonary hypoplasia, Small nail, Hydronephrosis	OMIM:308050
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Polymyositis	Hepatomegaly, Pericarditis, Abnormal renal tubule morphology, Autoimmunity, Abnormal pulmonary in...	ORPHA:732
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase...	OMIM:224120
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Spl...	OMIM:612852
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Neonatal respiratory distress, Skin rash, Autoimmunity, Abnormalit...	ORPHA:69665
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Proteinuria, Autoimmunity, Progeroid facial appearance, Pannicu...	ORPHA:79086
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Curly eyelashes, Highly arched eyebrow, Syno...	OMIM:122470
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Redundant neck skin, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiec...	OMIM:235255
Degcags Syndrome	Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying of hair, Leukopen...	OMIM:619488
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnorm...	ORPHA:158048
Timothy Syndrome	Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Pulmonary arterial hypertension	OMIM:601005
Gm1-Gangliosidosis, Type I	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Angiokeratoma corporis diffusum, Decreased be...	OMIM:230500
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Bon...	ORPHA:88
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, A...	ORPHA:1454
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Increased hepatic glycogen content, Enlarged tonsils, Autoimmunity	ORPHA:293964
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Anuria, Pneumonia, Respiratory tract infection, Myocarditis, Pan...	ORPHA:544482
Gm1 Gangliosidosis	Recurrent respiratory infections, Splenomegaly, Patent ductus arteriosus, Hepatosplenomegaly, Dec...	ORPHA:354
Fucosidosis	Hepatomegaly, Recurrent respiratory infections, Petechiae, Angiokeratoma, Cardiomegaly, Splenomeg...	OMIM:230000
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Multiple Endocrine Neoplasia Type 4	Increased urinary cortisol level, Insulinoma, Erythema, Thymoma, Extrahepatic cholestasis, Esopha...	ORPHA:276152
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Redundant neck skin, Splenomegaly, Pancreatic lymphangiectasis, Abnormal renal morp...	ORPHA:1655
Occipital Horn Syndrome	Recurrent urinary tract infections, Thick hair, Jaundice, Hepatitis, Cholestasis, Bladder diverti...	ORPHA:198
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Autoimmunity, Dyspnea, Oliguria, Skin ulcer, Art...	ORPHA:220393
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Splenomegaly, Jaundice, Loss of eyelash...	OMIM:263700
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi...	OMIM:615512
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infe...	OMIM:251260
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lympha...	OMIM:602782
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl...	OMIM:139090
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Fetal ascites, Bone-marrow foam cells, Low cholester...	OMIM:607625
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i...	OMIM:230800
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Decreased activity of NADPH oxidase, Renal tubular acidosis, Organic aciduria, Aspiration pneumon...	ORPHA:431361
Cirrhosis, Familial	Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Increased level of L-fu...	OMIM:215600
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Gastrointestinal inflammation, Conjunctivitis, Cough, Neutropenia, Generali...	ORPHA:95455
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema	OMIM:613943
Crimean-Congo Hemorrhagic Fever	Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbilliform rash, Ec...	ORPHA:99827
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema	OMIM:606545
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Rasmussen Subacute Encephalitis	Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo...	ORPHA:1929
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Hennekam Syndrome	Lymphopenia, Recurrent respiratory infections, Sparse axillary hair, Ectopic kidney, Splenomegaly...	ORPHA:2136
Peripartum Cardiomyopathy	Orthopnea, Autoimmunity, Crackles, Myocarditis, Dyspnea, Asthma, Respiratory failure, Paroxysmal ...	ORPHA:563
Sarcoidosis	Increased T cell count, Abnormal lung morphology, Uveitis, Nephrocalcinosis, Tubulointerstitial n...	ORPHA:797
Mednik Syndrome	Cirrhosis, Erythema, Hepatic fibrosis, Cholestasis	OMIM:609313
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Autoimmunity, Dyspnea, Autoimmune antibody positivity, Chronic mucocutan...	ORPHA:36913
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Scheie Syndrome	Splenomegaly, Hepatomegaly, Rhinitis, Mucopolysacchariduria	ORPHA:93474
Roifman-Chitayat Syndrome	Arthritis, Pneumonia, Ectopic kidney	OMIM:613328
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pn...	OMIM:230900
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenome...	OMIM:276700
Pemphigus Erythematosus	Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Jaundice, Erythema, Extrahepatic cholestasis, Esophagitis	ORPHA:913
Pachydermoperiostosis	Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnorm...	ORPHA:2796
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Keratitis, Dyspne...	ORPHA:1018
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati...	ORPHA:70588
Hepatoerythropoietic Porphyria	Facial hypertrichosis, Recurrent bacterial skin infections, Hemolytic anemia, Abnormal circulatin...	ORPHA:95159
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Incr...	OMIM:210250
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Apnea, Episodic tachypnea, Aspiration pneu...	ORPHA:79264
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Neonatal respiratory distress, Apnea, Erythema, Stridor, Aspiration	OMIM:614653
Secondary Non-Traumatic Avascular Necrosis	Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Mucopolysaccharidosis Type 3	Hepatomegaly, Recurrent sinopulmonary infections, Thick hair, Adenoiditis, Heparan sulfate excret...	ORPHA:581
Type 1 Diabetes Mellitus	Autoimmunity, Polyuria	OMIM:222100
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Recurrent respiratory infections, Apnea, Albinism, Splenomegaly, Abnormal pulmonary...	OMIM:617050
Familial Benign Chronic Pemphigus	Skin vesicle, Erythema	ORPHA:2841
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Elevated hepatic transa...	ORPHA:26793
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephr...	ORPHA:29073
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu...	ORPHA:79078
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Restrictive ventilatory defect, Pneumonia, Right ventricular hypertrophy	OMIM:253700
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Psoriasiform lesion, Antinucl...	ORPHA:85436
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Respiratory ...	ORPHA:98905
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Decreased beta-galactosidase activity, Urinary glycosaminoglycan excretion, A...	ORPHA:79255
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Low choleste...	OMIM:257220
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Pneumonia, Reduced leukocyte arylsulfatase B activity, Splenomegaly, Recurrent uppe...	OMIM:253200
Polycythemia Vera	Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Portal vein thrombosis, Splenom...	ORPHA:729
Congenital Erythropoietic Porphyria	Anisocytosis, Scarring alopecia of scalp, Red-brown urine, Leukopenia, Erythroid hyperplasia, Pur...	ORPHA:79277
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Cutis marmorata, Chilblains, Autoimmunity, Cardiomegaly,...	ORPHA:51
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An...	ORPHA:64744
Gaisböck Syndrome	Plethora, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration, Gout, Nephr...	ORPHA:90041
Cystic Fibrosis	Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu...	OMIM:219700
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheu...	ORPHA:85410
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Hypoplastic toenails, Absent toenail, Pulmon...	OMIM:616028
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Dyspnea, Tachypnea, Hypercalciuria, Amin...	OMIM:239200
Ehlers-Danlos Syndrome, Periodontal Type, 1	Prominent superficial veins, Autoimmunity, Poor wound healing, Periodontitis, Palmoplantar cutis ...	OMIM:130080
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert...	ORPHA:60025
Superficial Epidermolytic Ichthyosis	Erythema	ORPHA:455
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Sparse eyelashes, Cholangitis, ...	OMIM:613610
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Lacticaciduria, Aspiration pneumonia, Left ventricular hypertrophy	OMIM:619167
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Autoimmunity, Chylous ascites, Decreased circulating antibody l...	ORPHA:90363
Sympathetic Ophthalmia	Alopecia, Erythema, Posterior uveitis, Poliosis	ORPHA:79098
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent respiratory infections, Apnea, Abnormality of hair texture, Splenomegaly,...	ORPHA:667
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu...	OMIM:612301
Behçet Disease	Increased inflammatory response, Renal insufficiency, Myositis, Acne, Pericarditis, Glomerulopath...	ORPHA:117
Coffin-Siris Syndrome	Hypoplastic fifth toenail, Sparse scalp hair, Thick eyebrow, Hypospadias, Hypoplastic fifth finge...	ORPHA:1465
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Proteinuria, Splenomegaly, Abnormal...	ORPHA:77261
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology, Autoimmunity, Chronic mucocutaneous candidiasis	ORPHA:3453
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Respiratory distress, Hypospadias, Abnormal eyelash morphology, Epispa...	ORPHA:2556
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ...	OMIM:301072
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Recurrent respiratory infections, Sparse scalp hair, Anhidrotic ectodermal dysplasi...	OMIM:612132
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Sinusitis, Pneumonia, Pustule, Respiratory tract infection, Skin ulcer, Intr...	ORPHA:68
Alpha-Mannosidosis, Infantile Form	Abnormal circulating enzyme concentration or activity, Pancytopenia, Recurrent urinary tract infe...	ORPHA:309282
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Protein...	ORPHA:94093
Corneodermatoosseous Syndrome	Erythema, Abnormal fingernail morphology, Absent fingernail	ORPHA:3194
Isolated Osteopoikilosis	Discoid lupus rash, Autoimmunity, Abnormality of the kidney	ORPHA:166119
Pearson Syndrome	Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega...	ORPHA:699
Plague	Respiratory distress, Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Lymphadenitis, Sple...	ORPHA:707
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Recurrent respiratory infections, Renal insufficiency, Redundant n...	ORPHA:397715
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Respiratory failure requiring assisted ventilation, Autoimmune thrombocytopenia, Hy...	ORPHA:77293
Acute Adrenal Insufficiency	Normocytic anemia, Renal insufficiency, Autoimmunity, Sparse axillary hair, Decreased urinary pot...	ORPHA:95409
22Q11.2 Deletion Syndrome	Impaired T cell function, Abnormal lung lobation, Hypoplasia of the thymus, Vesicoureteral reflux...	ORPHA:567
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia, Sparse l...	ORPHA:314655
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Osteomyelitis, Antiphospholipid antibody positivity, Autoimmunity, Pulmon...	ORPHA:70591
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Elevated hepatic transamin...	OMIM:608594
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ...	ORPHA:565612
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hepatic hemangioma, Penile hypospadias, Recurrent as...	ORPHA:73230
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Elevated hepatic transamin...	OMIM:269700
Niemann-Pick Disease Type C	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom...	ORPHA:646
Warburg-Cinotti Syndrome	Erythema, Pneumothorax, Poor wound healing, Sterile abscess	OMIM:618175
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Addison Disease	Normocytic anemia, Autoimmunity, Sparse axillary hair, Decreased urinary potassium, Renal salt wa...	ORPHA:85138
Cholera	Abnormality of renal excretion, Tachypnea, Aspiration pneumonia, Palmoplantar cutis laxa, Acute k...	ORPHA:173
Infantile Neuroaxonal Dystrophy	Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Aspiration...	ORPHA:35069
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Sparse scalp hair, Absent ...	OMIM:264090
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Thick eyebrow, Hypospadias, Abnormal fingernail morphology, Tracheomalacia, Highly ar...	ORPHA:444077
Geleophysic Dysplasia 3	Dyspnea, Hepatomegaly, Respiratory failure, Pneumonia	OMIM:617809
Digeorge Syndrome	Impaired T cell function, Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis...	OMIM:188400
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia, Cough	ORPHA:216866
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure, Acute kidney injury	ORPHA:330021
Stiff-Person Syndrome	Autoimmunity, Anemia	OMIM:184850
Tay-Sachs Disease	Abnormal circulating enzyme concentration or activity, Aspiration pneumonia, Hepatosplenomegaly	ORPHA:845
Fontaine Progeroid Syndrome	Redundant skin, Synophrys, Low anterior hairline, Coarse hair, Micropenis, Recurrent aspiration p...	OMIM:612289
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Autoimmunity, Parathormone-independent increased renal tubular calcium reabsorpt...	ORPHA:405
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Encephalitis Lethargica	Increased circulating antibody level, Autoimmunity, Urinary incontinence, Hyperventilation	ORPHA:83600
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hypoplastic fingernail, Hydroureter, Patent ductus arteriosus, Synophrys, Hypertrophy of the urin...	ORPHA:280633
Baller-Gerold Syndrome	Erythema, Abnormality of the kidney, Anomalous splenoportal venous system	OMIM:218600
Marshall-Smith Syndrome	Brittle hair, Apnea, Highly arched eyebrow, Patent ductus arteriosus, Recurrent upper respiratory...	OMIM:602535
Spondyloepiphyseal Dysplasia Tarda	Increased inflammatory response, Osteoarthritis of the distal interphalangeal joint, Autoimmunity...	ORPHA:93284
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Frontal balding, Highly arched eyebrow, Patent ductus arteriosus, Synophrys, Long lower eyelashes...	OMIM:612474
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Jaundice, Pneumonia	ORPHA:90790
Extracranial Carotid Artery Aneurysm	Total anomalous pulmonary venous return, Autoimmunity, Arteritis	ORPHA:494424
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous...	ORPHA:99104
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Recurrent pneumonia, Recurrent aspiration pneumonia	OMIM:300472
Opitz Gbbb Syndrome	Enlarged ovaries, Hypospadias, Tracheomalacia, Patent ductus arteriosus, Widow's peak, Stridor, A...	ORPHA:2745
Turner Syndrome Due To Structural X Chromosome Anomalies	Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inf...	ORPHA:99413
Mosaic Monosomy X	Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inf...	ORPHA:99228
Monosomy X	Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inf...	ORPHA:99226
Turner Syndrome	Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inf...	ORPHA:881
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Pil...	ORPHA:353281
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Chronic kidney disease, Bruising susceptibility, Aplasia of th...	ORPHA:642
Myasthenia Gravis	Autoimmunity, Thymoma	OMIM:254200
Kabuki Syndrome 1	Hemolytic anemia, Crossed fused renal ectopia, Highly arched eyebrow, Autoimmune thrombocytopenia...	OMIM:147920
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Abn...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Abn...	ORPHA:353277
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Respiratory distress, Abnormal fingernail morp...	ORPHA:79500
Combined Oxidative Phosphorylation Deficiency 25	Aspiration pneumonia	OMIM:616430
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Breathing dysregulation, Patent ductus arteriosus, Nephrolithiasis, Aspir...	ORPHA:438213
Adult-Onset Autosomal Dominant Leukodystrophy	Urinary urgency, Recurrent urinary tract infections, Urinary retention, Aspiration pneumonia	ORPHA:99027
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Recurrent ...	OMIM:616268
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Urinary incontinence, Hypopnea, Restrictive ventilatory defect, Aspiratio...	OMIM:619482
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Acute Transverse Myelitis	Autoimmunity, Urinary incontinence, Abscess, Systemic lupus erythematosus, Urinary retention, Uri...	ORPHA:139417
Lafora Disease	Hepatic failure, Recurrent aspiration pneumonia, Severe photosensitivity	ORPHA:501
Pmm2-Cdg	Respiratory distress, Elevated hepatic transaminase, Pericarditis, Proteinuria, Abnormal subcutan...	ORPHA:79318
Alobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:220386
Yunis-Varon Syndrome	Sparse scalp hair, Absent nipple, Hypospadias, Sparse eyelashes, Redundant neck skin, Sparse eyeb...	OMIM:216340

Histopathology

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

There is no histopathology data for E2f2

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 E2f2.

No publications found that use IMPC mice or data for E2f2.

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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
E2f2^{tm540(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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