Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Traf3ip2 MGI:2143599

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

TRAF3 interacting protein 2

Synonyms:

Act1

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 Traf3ip2 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 Traf3ip2 (2 diseases)
Human diseases predicted to be associated with Traf3ip2 (1099 diseases)

The table below shows human diseases associated to Traf3ip2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Candidiasis, Familial, 8		Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Blepharitis	OMIM:615527
Chronic Mucocutaneous Candidiasis		Dyspareunia, Skin rash, Pruritus, Cheilitis, Hepatitis, Hyperkeratosis	ORPHA:1334

The table below shows human diseases predicted to be associated to Traf3ip2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Acne Inversa, Familial, 3	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa	OMIM:613737
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node germinal cen...	ORPHA:277
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:603909
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo...	OMIM:209950
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Acne Inversa, Familial, 1	Acne inversa	OMIM:142690
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Autoimmunity, Sple...	OMIM:618495
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Chilblain Lupus 2	Chilblains	OMIM:614415
Immunodeficiency 51	Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocyte physiology, Pustule, Chronic mu...	OMIM:613953
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis...	OMIM:617638
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Au...	ORPHA:98813
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of...	OMIM:619924
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur...	ORPHA:567544
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Chron...	OMIM:212050
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Secretory Component Deficiency	Chronic intestinal candidiasis, Secretory IgA deficiency	OMIM:269650
Palmoplantar Keratoderma, Epidermolytic, 1	Plantar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hype...	OMIM:144200
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu...	OMIM:150550
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Abnormal circulating I...	OMIM:618048
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Melioidosis	Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl...	ORPHA:31202
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo...	OMIM:614420
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Follicul...	OMIM:614470
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ...	ORPHA:169154
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton...	OMIM:613779
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia	OMIM:247800
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched memory B ce...	OMIM:615513
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Autoimmune antibody positivity, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Bronchiectasis, Ulcer...	OMIM:618394
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Recur...	OMIM:240500
Immunodeficiency 95	Respiratory distress, Decreased circulating IgG3 level, Respiratory failure, Increased circulatin...	OMIM:619773
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymph...	ORPHA:397596
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Muckle-Wells Syndrome	Renal insufficiency, Maculopapular exanthema, Leukocytosis, Conjunctivitis, Recurrent aphthous st...	OMIM:191900
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopeni...	OMIM:613011
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Sjogren Syndrome	Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar...	OMIM:270150
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Autoimmunity	OMIM:216950
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Diarrhea, Xerostomia, Nephrolithia...	OMIM:617321
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Anti...	ORPHA:486
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom...	ORPHA:444463
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus	OMIM:613652
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ...	OMIM:617241
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Inflammat...	OMIM:615767
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno...	OMIM:602450
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Cholangitis, Eosinophilia, Autoimmunity, Facial edema, Periorbital edema, Ab...	ORPHA:449432
Kimura Disease	Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Antineutrophil antibody posi...	OMIM:301078
C1Q Deficiency 3	Discoid lupus rash, Decreased circulating C1q concentration	OMIM:620322
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Anemia, Arthritis, Nephrotic syndro...	ORPHA:575
Igg4-Related Aortitis	Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti...	ORPHA:449400
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Crackles, Nonproductive cough, Leukocytosis, Increased circulating IgE level, Hyper...	ORPHA:2902
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma, Pruritus	ORPHA:280785
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ...	ORPHA:227990
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Auto...	ORPHA:809
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci...	OMIM:618459
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc...	ORPHA:3261
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia, Increase...	OMIM:304790
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk...	ORPHA:227982
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R...	ORPHA:51636
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Increased proportion of exhausted T cells	OMIM:618307
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Lymphadenitis, Dysphagia, Nephritis, Pancreatitis, Parotitis	ORPHA:449427
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Increased circulating IgE level, Recu...	OMIM:618282
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Lymphopenia, Decr...	OMIM:102700
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr...	ORPHA:100024
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Facial edema, Xerostomia, Tubulointerstitial nephritis, Abnormal salivary gland morphol...	ORPHA:79078
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Asthma, Increased circulating IgE level, Atopic d...	ORPHA:217390
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Chronic decreased circulating total IgG	OMIM:613495
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Flotch Syndrome	Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Nephrolithiasis, Bleph...	ORPHA:2045
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ...	ORPHA:289390
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections	ORPHA:345
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Sea-Blue Histiocytosis	Hepatomegaly, Edema, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharit...	ORPHA:158029
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ...	OMIM:608106
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma	ORPHA:2897
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level	OMIM:609529
Ichthyosis, Congenital, Autosomal Recessive 10	Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma	OMIM:615024
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ...	ORPHA:443811
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG...	ORPHA:2137
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Aphthous ulcer, Diarrhea, Ulcerative colitis, Inflammation of the large i...	OMIM:266600
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Candidiasis, Familial, 9	Recurrent aphthous stomatitis, Chronic mucocutaneous candidiasis	OMIM:616445
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia...	ORPHA:2688
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D...	ORPHA:275
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Autoimmunity, Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leuk...	OMIM:616005
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis, Increased circulating IgE level	ORPHA:89843
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Asthma, Increased circulating I...	OMIM:243700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo...	OMIM:619752
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Antiphospholipid antibody positivity, Skin rash, Rheumatoid factor positive, Follicular...	OMIM:615934
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Gingival overgrowth, Lymphadenopathy, Hematuria, Le...	ORPHA:520
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Di...	ORPHA:39812
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma	OMIM:133200
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis, Gingivitis	OMIM:618648
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ...	OMIM:617388
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce...	OMIM:618987
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl...	OMIM:618852
Immunodeficiency 9	Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Amelogenes...	OMIM:612782
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatit...	OMIM:616100
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Peeling Skin Syndrome 1	Pruritus, Increased circulating IgE level, Erythroderma	OMIM:270300
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule	ORPHA:464318
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Thin upper lip vermilion, T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Lo...	OMIM:615966
Paget Disease, Extramammary	Eczematoid dermatitis	OMIM:167300
Burning Mouth Syndrome	Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Burning mouth, Strawberry...	ORPHA:353253
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutaneous candidiasi...	OMIM:147060
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro...	OMIM:614868
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi...	OMIM:619858
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Blepharitis, Erythroderma	OMIM:614328
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Diarrhea, Ne...	OMIM:308230
Erythermalgia, Primary	Diarrhea, Xerostomia, Hyperhidrosis, Keratoconjunctivitis sicca, Constipation	OMIM:133020
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti...	OMIM:618523
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Abnormal T cell count, Abnormal B cell count, Autoimmu...	ORPHA:331206
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Pediatric Systemic Lupus Erythematosus	Myositis, Edema, Oral ulcer, Leukopenia, Vomiting, Lupus anticoagulant, Nephritis, Pericardial ef...	ORPHA:93552
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Antinuclear antibody positivity, Cervical lymphadenopathy, Recurrent pneumonia, Decrea...	OMIM:617718
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis	OMIM:200400
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, I...	OMIM:615285
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Eczema, Abnormality of the dentition, Xerostomia, Hypohidr...	ORPHA:238468
Sarcoidosis	Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hypo...	ORPHA:797
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Adiposis Dolorosa	Recurrent skin infections, Autoimmunity, Diarrhea, Xerostomia, Arthritis, Constipation, Hypothyro...	ORPHA:36397
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency 48	Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Pa...	OMIM:269840
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Poikiloderma With Neutropenia	Skin rash, Edema, Sparse eyebrow, Carious teeth, Splenomegaly, Recurrent pneumonia, Neutropenia, ...	OMIM:604173
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility	OMIM:300604
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Oral ulcer, Chronic mucocutaneous candid...	OMIM:608971
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Iron deficiency anem...	ORPHA:37042
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Immunodeficiency 50	Eczema, Decreased circulating antibody level	OMIM:300988
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Complement Component 5 Deficiency	Decreased circulating complement C5 concentration, Reduced hemolytic complement activity, General...	OMIM:609536
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Sparse eyelashes, Sparse eyebrow, Keratitis, Carious teeth, Folliculitis, Conjunctivitis, Enamel ...	OMIM:612843
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Increased circulating IgE level, Recurrent pneumonia	OMIM:616069
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ...	ORPHA:329918
Reynolds Syndrome	Hepatomegaly, Skin rash, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Arthritis, Ker...	ORPHA:779
Antisynthetase Syndrome	Myositis, Skin rash, Autoimmunity, Edema, Myocarditis, Xerostomia, Keratoconjunctivitis sicca, Dy...	ORPHA:81
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, High palate, Glomerulonephritis	ORPHA:2172
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hypospadias, Selective tooth agenesis, Conical tooth, Absent eyelashes, Cleft u...	OMIM:106260
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis	OMIM:260570
Complement Component 4A Deficiency	Glomerulonephritis, Systemic lupus erythematosus	OMIM:614380
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Crimean-Congo Hemorrhagic Fever	Hyperhidrosis, Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, Hepatomegaly, Neutro...	ORPHA:99827
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Neutropenia, Stomatitis, A...	OMIM:246400
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Fixed Drug Eruption	Stomatitis, Crusting erythematous dermatitis, Oral ulcer	ORPHA:293812
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanth...	OMIM:619644
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Glossitis, Thin upper lip vermilion, Epicanthus, Pancytopenia, Skin rash, Hepatomegaly, Megalobla...	OMIM:277380
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Anhidrosis, Absent nipple, Sparse eyelashes, Conical tooth, Absent eyelashes, Xer...	OMIM:614941
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Antinuclear antibody ...	ORPHA:536
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Autoimmunity, Malabsorption, Carious teeth, Xerostomia, Oliguria, Arthritis,...	ORPHA:220393
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Eosinophi...	OMIM:615816
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s...	OMIM:608709
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Periodontal Ehlers-Danlos Syndrome	Premature loss of primary teeth, Gingival overgrowth, Agenesis of permanent teeth, Periodontitis,...	ORPHA:75392
Prune Belly Syndrome	Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Ana...	OMIM:100100
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ...	OMIM:618999
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Herpes simplex encephalitis, Recurrent aphthous stomatitis	OMIM:614850
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Increased circ...	ORPHA:169160
Infant Botulism	Bowel incontinence, Xerostomia, Keratoconjunctivitis sicca, Constipation, Dysphagia, Chronic otit...	ORPHA:178478
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Cutaneous abscess	OMIM:619986
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Allergic rhinitis, Pruritus, Increased circulating IgE level, Atopic dermatitis, H...	ORPHA:90368
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Keratitis, Sparse eyebrow, Folliculitis, Conjunctivitis, Blepharitis, Ectropion	OMIM:308800
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Abscess, Pustule, Splenomegaly, Joint swell...	OMIM:612852
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Lichen Planus Pemphigoides	Conjunctivitis, Abnormal oral mucosa morphology, Blepharitis	ORPHA:254478
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Gcgr-Related Hyperglucagonemia	Stomatitis, Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas	ORPHA:438274
Netherton Syndrome	Parakeratosis, Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE le...	OMIM:256500
Boutonneuse Fever	Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymphadenopathy, Increased circulat...	ORPHA:83313
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Unilateral renal agenesis, Megaloblastic anemia, Cleft palate, Methylmalonic aciduria,...	ORPHA:79284
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Erythroderma	OMIM:615022
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis	OMIM:162700
Candidiasis, Familial, 8	Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Blepharitis	OMIM:615527
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody...	ORPHA:93126
Iatrogenic Botulism	Xerostomia, Constipation, Urinary retention, Dysphagia, Ptosis	ORPHA:254509
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Eec Syndrome	Decreased response to growth hormone stimulation test, Xerostomia, Orofacial cleft, Urethral atre...	ORPHA:1896
Immunodeficiency 22	Decreased circulating IgG level, Pericarditis, Autoimmunity, Abscess, Thrombocytopenia, Decreased...	OMIM:615758
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Cleft lip, Stage 5 c...	OMIM:616730
Nephrotic Syndrome, Type 6	Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm...	OMIM:614196
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,...	ORPHA:411593
Cernunnos-Xlf Deficiency	Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho...	ORPHA:169079
Agel Amyloidosis	Tongue atrophy, Proteinuria, Edema, Bilateral ptosis, Xerostomia, Stage 5 chronic kidney disease,...	ORPHA:85448
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Proteinuria, Howell-Jolly bodies,...	ORPHA:85443
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse eyelashes, Eczema, Blepharitis, Hypohidrosis	OMIM:618535
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Esophageal stricture, Cheilitis, Bronchiectasis, Recurrent ...	OMIM:615468
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l...	ORPHA:37748
Immunodeficiency 85 And Autoimmunity	Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,...	OMIM:619510
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Generalized lymphadenopathy, P...	OMIM:618986
Inhalational Botulism	Diarrhea, Xerostomia, Constipation, Urinary retention, Ptosis	ORPHA:254504
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific...	OMIM:617765
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng...	ORPHA:3392
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Mesangial hypercellula...	OMIM:616414
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Edema, Minimal change glomerulonephritis, Cleft...	OMIM:618348
Hereditary Acrokeratotic Poikiloderma	Abnormal renal tubule morphology, Eczema, Premature loss of primary teeth, Abnormal preputium mor...	ORPHA:2907
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, Cobblestone-like hyperkera...	OMIM:602540
Thyrocerebrorenal Syndrome	Renal insufficiency, Euthyroid goiter, Nephritis, Thrombocytopenia	ORPHA:3327
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Cough, Dyspnea, Increased circulati...	ORPHA:1163
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis	OMIM:260910
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Conical primary incisor, Blephar...	OMIM:602400
Epidermolytic Hyperkeratosis 1	Palmoplantar hyperkeratosis, Erythroderma	OMIM:113800
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Impaired T cell function, Pure red cell aplasia, Autoimmu...	OMIM:613179
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ...	ORPHA:656
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Antimitochondrial antibody positivity, Antinuc...	ORPHA:562639
Foodborne Botulism	Diarrhea, Xerostomia, Constipation, Urinary retention, Dysphagia, Ptosis	ORPHA:228371
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Eczema, Reduced natural killer cell activity	OMIM:614493
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Panhypogammaglobulinemia, Erythema nodosum	OMIM:615214
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Diarrhea, Lymphad...	ORPHA:343
Intestinal Botulism	Diarrhea, Xerostomia, Dysphagia, Ptosis	ORPHA:178481
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ...	ORPHA:90340
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent skin infections, Malabsorption, Herpes simplex encephalitis, Chronic diar...	OMIM:233600
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Eczema, Celiac disease, Diarrhea, Thyroiditis, Iron deficiency anemia, Vomitin...	OMIM:212750
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Gingival overgrowth, Nephrotic syndrome,...	OMIM:619428
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, B...	OMIM:226990
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Hepatomegaly, Microcytic anemia, Erythema nodosum, Thrombocytopenia, Splenomegaly, ...	OMIM:256040
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe...	OMIM:618261
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A...	OMIM:615508
Lacrimoauriculodentodigital Syndrome 3	Absent lacrimal punctum, Epicanthus, Absent eyelashes, Carious teeth, Xerostomia, Lacrimal duct a...	OMIM:620193
Erythema Nodosum, Familial	Erythema nodosum	OMIM:132990
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hepatoblastoma, Chronic pancr...	OMIM:232240
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S...	OMIM:300635
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Antinuclear antibody positivity, Au...	ORPHA:99931
Acrodermatitis Enteropathica	Glossitis, Abnormal eyebrow morphology, Abnormal eyelid morphology, Pustule, Malabsorption, Chron...	ORPHA:37
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Hydroxykynureninuria	Stomatitis, Renal tubular acidosis	ORPHA:79155
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Abnormal natural killer cell physiology, Decre...	OMIM:613101
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ...	ORPHA:567548
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero...	OMIM:175500
Macs Syndrome	Irregular dentition, Epicanthus, Palpebral edema, Sparse eyebrow, Cryptorchidism, Urethral stenos...	OMIM:613075
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:604292
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Autosomal Dominant Epidermolytic Ichthyosis	Hyperkeratosis, Palmoplantar keratoderma, Erythroderma	ORPHA:312
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Recurrent cutaneous fungal infections, Gingivitis, Conj...	ORPHA:477
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Ifap Syndrome 2	Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Angular cheilitis	OMIM:619016
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Olmsted Syndrome, X-Linked	Posterior blepharitis, Blepharitis	OMIM:300918
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease...	ORPHA:859
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Igg4-Related Kidney Disease	Rheumatoid factor positive, Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile py...	ORPHA:449395
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Clouston Syndrome	Sparse eyelashes, Abnormality of the dentition, Sparse eyebrow, Conjunctivitis, Blepharitis	OMIM:129500
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Psoriasiform dermatitis, Blepharitis	OMIM:616834
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid factor positive, Anti-thyroid peroxidase antibody positivity, Pedal...	ORPHA:49041
Dyskeratosis Congenita	Abnormality of neutrophils, Hyperhidrosis, Periodontitis, Hepatomegaly, Abnormal eyelash morpholo...	ORPHA:1775
Tenorio Syndrome	Telecanthus, Recurrent pneumonia, Wide mouth, Enuresis, Keratoconjunctivitis sicca, Macroglossia,...	OMIM:616260
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Botulism	Diarrhea, Xerostomia, Urinary retention, Constipation, Dysphagia	ORPHA:1267
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Ramos-Arroyo Syndrome	Aganglionic megacolon, Keratitis, Dacryocystitis, Carious teeth, Xerostomia, Nasolacrimal duct ob...	ORPHA:1051
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:129900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Ichthyosis Prematurity Syndrome	Pruritus, Allergic rhinitis, Follicular hyperkeratosis, Erythroderma	OMIM:608649
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n...	OMIM:608203
Helix Syndrome	Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Xerostomia, Nephrolithiasis, Hypo...	OMIM:617671
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce...	OMIM:618935
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Erythroderma	OMIM:604777
Immunodeficiency 58	Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Dysuria,...	OMIM:618131
Postorgasmic Illness Syndrome	Xerostomia, Hyperhidrosis	ORPHA:279947
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Absent eyebrow, Epicanthus, Membranoproliferative glomerulo...	OMIM:137940
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
17Q23.1Q23.2 Microdeletion Syndrome	Epicanthus, Highly arched eyebrow, Long eyelashes, Widely spaced teeth, Gastroesophageal reflux, ...	ORPHA:261279
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Gingivitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemi...	ORPHA:2968
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Systemic lupus erythematosus, Leukopen...	OMIM:616871
Cold Agglutinin Disease	Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, Lymphadenopathy	ORPHA:56425
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Schimke Immuno-Osseous Dysplasia	Neutropenia, Microdontia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephr...	ORPHA:1830
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy,...	OMIM:614034
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Brucellosis	Liver abscess, Rheumatoid factor positive, Knee osteoarthritis, Increased circulating IgG level, ...	ORPHA:1304
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Lymphad...	OMIM:615387
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Lymphopenia, Recurrent skin infections, Splenomegaly, Decreased circulating total I...	OMIM:620210
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, A...	OMIM:617780
Behçet Disease	Myositis, Oral ulcer, Infectious encephalitis, Glomerulopathy, Acne, Retrobulbar optic neuritis, ...	ORPHA:117
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Autoimmunity, Anti-acetylch...	ORPHA:99867
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Thin upper lip vermilion, Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, St...	OMIM:614376
Lambert-Eaton Myasthenic Syndrome	Xerostomia, Hypohidrosis, Abnormality of the orbital region, Keratoconjunctivitis sicca, Constipa...	ORPHA:43393
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna...	ORPHA:728
Macrophage Activation Syndrome	Hepatomegaly, Increased circulating interleukin 6 concentration, Increased inflammatory response,...	ORPHA:158061
Congenital Ichthyosiform Erythroderma	Keratitis, Palmoplantar keratoderma, Erythroderma, Pruritus	ORPHA:79394
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, P...	ORPHA:449563
Q Fever	Respiratory distress, Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Cough,...	ORPHA:781
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflammation, Con...	ORPHA:95455
Acquired Partial Lipodystrophy	Proteinuria, Autoimmunity, Decreased circulating complement C3 concentration, Lymphocytosis, Micr...	ORPHA:79087
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections	ORPHA:79503
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Eczema, Splenomegaly, Thrombocytopenia, Recurrent pneumonia, ...	OMIM:170100
Limb-Mammary Syndrome	Absent lacrimal punctum, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Absent nippl...	ORPHA:69085
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ...	OMIM:616576
Juvenile Xanthogranuloma	Abnormal oral mucosa morphology, Uveitis, Myeloproliferative disorder, Iritis, Blepharitis	ORPHA:158000
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Leukonychia Totalis	Abnormal eyelash morphology, Adenoma sebaceum, Blepharitis, Nephrolithiasis	ORPHA:2387
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Synophrys, Hypertrophy of the urinary bladder, High palate, Gastroeso...	ORPHA:280633
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613500
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia, Goiter	OMIM:274240
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Immunodeficiency 15A	Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut...	OMIM:618204
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Predominantly lower limb lymphedema, Lymphedema, Orchitis, Lymph...	ORPHA:2035
Moebius Syndrome	Epicanthus, Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Everted ...	ORPHA:570
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Whim Syndrome 1	Decreased circulating IgG level, Neutropenia, Bronchiectasis, Decreased circulating antibody level	OMIM:193670
Netherton Syndrome	Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro...	ORPHA:634
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Autoimmunity, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, ...	ORPHA:64744
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Lacrimal duct stenosis, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, N...	OMIM:609057
Lacrimoauriculodentodigital Syndrome	Xerostomia, Orofacial cleft, Vesicoureteral reflux, Microdontia, Abnormal salivary gland morpholo...	ORPHA:2363
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis	OMIM:612281
Variant Abeta2M Amyloidosis	Intestinal perforation, Chronic kidney disease, Abnormality of the tongue, Hepatic amyloidosis, R...	ORPHA:314652
Glucagonoma	Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Consti...	ORPHA:97280
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Edema, Increased circulating myelocyte count, Vomiting, Infectiou...	ORPHA:36234
Atopic Keratoconjunctivitis	Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, B...	ORPHA:163934
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo...	ORPHA:69126
Prader-Willi Syndrome	Gastroparesis, Decreased response to growth hormone stimulation test, Edema, Abnormality of the d...	ORPHA:739
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Dyskeratosis Congenita, X-Linked	Hyperhidrosis, Leukopenia, Conjunctivitis, Premature loss of teeth, Pterygium, Hypospadias, Crypt...	OMIM:305000
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Skin rash, Palpebral edema, Pustule, Myocarditis, Thro...	ORPHA:50918
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa...	ORPHA:85414
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Thrombocytopenia 1	Increased circulating IgE level, Eczema, Increased circulating IgA level	OMIM:313900
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-uremic syndrome, ...	ORPHA:79282
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in pr...	OMIM:615952
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Edema, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, ...	OMIM:603552
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Neurogenic bladder, Xerostomia	OMIM:618527
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hyperkeratosis, Erythroderma	OMIM:615023
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Mono...	ORPHA:91139
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity	ORPHA:98827
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Kilquist Syndrome	Intestinal malrotation, Midgut malrotation, Xerostomia, Hypoplasia of teeth, Wide mouth, Chronic ...	OMIM:619080
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Autoimmunity, Splenomegaly, Thrombocytopenia...	ORPHA:47612
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Asthma...	OMIM:615577
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Trimethylaminuria	OMIM:602079
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Abnormality of the tonsils, Abnormal...	ORPHA:229717
Sim1-Related Prader-Willi-Like Syndrome	Thin upper lip vermilion, Almond-shaped palpebral fissure, Cryptorchidism, Xerostomia, Central hy...	ORPHA:398079
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocyt...	OMIM:601457
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Eosinophilopenia	Decreased eosinophil count, Autoimmunity, Allergic rhinitis	OMIM:131430
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc...	ORPHA:555905
Ulerythema Ophryogenesis	Hyperkeratotic papule, Acne, Contact dermatitis, Follicular hyperkeratosis	ORPHA:3406
Systemic Sclerosis	Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha...	ORPHA:90291
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi...	OMIM:162000
Cyclic Neutropenia	Premature loss of permanent teeth, Lymphopenia, Sinusitis, Recurrent skin infections, Cyclic neut...	ORPHA:2686
Sézary Syndrome	Pruritus, Palmoplantar keratoderma, Erythroderma, Abnormal immunoglobulin level	ORPHA:3162
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusitis, Perio...	OMIM:613960
Lymphatic Malformation 3	Recurrent skin infections	OMIM:613480
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegal...	ORPHA:100026
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l...	OMIM:618108
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Myh9-Related Disease	Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc...	ORPHA:182050
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Skin rash, Hepatomegaly	OMIM:619175
Plasminogen Deficiency, Type I	Duodenal ulcer, Nephrolithiasis, Gingivitis, Gingival overgrowth, Conjunctivitis, Periodontitis, ...	OMIM:217090
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Hemolytic anemia, Erythrodontia, Nonimmune hydrops fetalis, ...	ORPHA:95159
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Reduction of neutrophil motility	OMIM:266265
Epidermodysplasia Verruciformis	Pustule, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Aplasia Of Lacrimal And Salivary Glands	Absent lacrimal punctum, Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Lacrimal gland apl...	OMIM:180920
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Leukopenia, Macrovesicular hepatic steatosis, Neutropenia, Nephritis, Hepatomegaly, Ne...	OMIM:617303
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No...	ORPHA:87503
Reactive Arthritis	Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, Diarrhea, Enthesitis, A...	ORPHA:29207
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
Amyotrophic Lateral Sclerosis	Xerostomia	ORPHA:803
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the parathyroid gland, Abnormalit...	ORPHA:2552
Magel2-Related Prader-Willi-Like Syndrome	Thin upper lip vermilion, Almond-shaped palpebral fissure, Cryptorchidism, Xerostomia, Central hy...	ORPHA:398069
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa...	ORPHA:29073
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Lymphangiectasia, Intestinal	Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level	OMIM:152800
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Ichthyosis With Confetti	Pruritus, Palmoplantar hyperkeratosis, Erythroderma	OMIM:609165
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,...	ORPHA:294023
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy, Mastocytosis	ORPHA:66661
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circulating IgE level, Cough, Chronic o...	ORPHA:2314
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia	OMIM:616941
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Congenital Erythropoietic Porphyria	Anisocytosis, Edema, Red-brown urine, Leukopenia, Erythroid hyperplasia, Purple urine, Hemolytic ...	ORPHA:79277
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Enanthema, Angioedema, Hepati...	ORPHA:139402
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Quinquaud Folliculitis Decalvans	Pustule, Recurrent skin infections	ORPHA:346
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopen...	OMIM:614069
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Erythroderma	OMIM:618840
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Salivary gland neoplasm, Abnormality of the submandibular g...	ORPHA:79493
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Conical incisor, Conjunctivitis, Nephrosclerosis, Microdonti...	OMIM:149730
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin...	ORPHA:47
Immunodeficiency 61	Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,...	OMIM:300310
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma...	ORPHA:48377
Immunodeficiency 43	Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin...	OMIM:241600
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Minimal change glomerulonephritis, Facial edema, Chronic kidney disease, ...	ORPHA:567546
Common Variable Immunodeficiency	Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Lymphaden...	ORPHA:1572
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Omenn Syndrome	Hepatomegaly, Autoimmunity, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic ...	ORPHA:39041
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma	OMIM:242300
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Lamellar Ichthyosis	Chronic otitis media, Hyperkeratosis, Pruritus, Erythroderma	ORPHA:313
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, System...	ORPHA:90033
Cortisone Reductase Deficiency 1	Acne, Infertility, Oligomenorrhea	OMIM:604931
Lead Poisoning	Decreased female libido, Skin rash, Abnormality of the menstrual cycle, Increased circulating IgE...	ORPHA:330015
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Alopecia Areata 1	Autoimmunity	OMIM:104000
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Necrobiosis Lipoidica	Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Antiphospholipid antibody positivity, Rheumat...	ORPHA:90060
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Abscess, Abnormality of the testis size, Eosinophil...	ORPHA:400
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Chronic ...	ORPHA:33355
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Ar...	OMIM:617591
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Skin rash, Pneumonia, Proteinuria, Autoimmunity, Enlarged polycystic ovaries, A...	ORPHA:2298
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Keratolytic Winter Erythema	Pustule	ORPHA:50943
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Premature Ovarian Failure 13	Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphol...	ORPHA:251004
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increase...	OMIM:617099
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Respiratory insufficiency, Decreased circulating antibody level	OMIM:618042
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu...	ORPHA:63
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor...	ORPHA:98848
Chronic Graft Versus Host Disease	Fasciitis, Pancytopenia, Phimosis, Urinary bladder inflammation, Esophageal stricture, Diarrhea, ...	ORPHA:99921
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na...	ORPHA:540
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Skin rash, Autoimmunity, Splenomegaly, Dyspnea, Uveitis, Lymphadenopa...	ORPHA:36412
Tempi Syndrome	Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ...	ORPHA:284227
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchi...	OMIM:613490
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Aphthous ulcer, Leukocytosis, Uveitis, Arthritis, Conjunctivitis, Renal amyloidosis	OMIM:120100
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Septic arthritis	ORPHA:36237
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Aminoaciduria, Jaundice	ORPHA:79238
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Hepatoportal Sclerosis	Anticardiolipin IgG antibody positivity, Portal hypertension, Portal vein thrombosis, Hyperspleni...	ORPHA:64743
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ...	ORPHA:228123
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros...	ORPHA:470
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma	ORPHA:882
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma	ORPHA:1954
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, S...	OMIM:301050
Pneumocystosis	Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug...	ORPHA:723
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos...	OMIM:260920
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis, Erythroderma	OMIM:133190
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Conjunctivitis, Absent eyebrow, Abnormal dental enamel morph...	ORPHA:2273
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Xeroderma Pigmentosum	Conjunctival telangiectasia, Entropion, Abnormality of the dentition, Keratitis, Cryptorchidism, ...	ORPHA:910
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Hyperhidrosis, Tubulointerstitial nephritis, Vomiting...	ORPHA:340
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence...	OMIM:616098
Bone Marrow Failure Syndrome 4	Eczema, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Th...	OMIM:618116
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Dermatitis, Atopic	Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Conjunctivitis	OMIM:603165
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Bathing Suit Ichthyosis	Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma	ORPHA:100976
Urban-Rogers-Meyer Syndrome	Cryptorchidism, Increased circulating IgE level, Hypogonadism	ORPHA:3409
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Dyspnea, Sea-blue histiocyt...	OMIM:607616
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Harlequin Ichthyosis	Hyperkeratosis, Erythroderma	ORPHA:457
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis	OMIM:620010
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis	ORPHA:26137
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Autoimmunity, Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital cap...	ORPHA:1303
Interstitial Lung Disease 2	Dyspnea, Increased circulating antibody level, Cirrhosis, Cough, Decreased DLCO, Pulmonary arteri...	OMIM:178500
Immunodeficiency 96	Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T...	OMIM:619774
Autosomal Agammaglobulinemia	Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrh...	ORPHA:33110
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig...	ORPHA:508533
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Zygomycosis	Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Vomiting, Neutropen...	ORPHA:73263
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cleft upper lip, Antecubital pterygium, Cle...	OMIM:161200
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Cornelia De Lange Syndrome	Hypoplasia of penis, Synophrys, Downturned corners of mouth, Widely spaced teeth, High palate, Ga...	ORPHA:199
Alstrom Syndrome	Hepatic steatosis, Renal insufficiency, Chronic active hepatitis, Hepatomegaly, Decreased respons...	OMIM:203800
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a...	OMIM:121300
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Nephritis, Renal dysplasia	OMIM:314300
American Trypanosomiasis	Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Autoimmune antibody positivity, Dyspnea, Lymp...	ORPHA:3386
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L...	OMIM:612840
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Mediastinal lymphadenopathy,...	ORPHA:169105
Immunodeficiency 46	Intermittent thrombocytopenia, Neutropenia, Decreased circulating antibody level, Conjunctivitis,...	OMIM:616740
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc...	OMIM:613470
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Mental Retardation And Psoriasis	Psoriasiform dermatitis	OMIM:309480
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre...	ORPHA:64745
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Gastrointestinal inflammation, Iron deficiency anemia, Gastroesophageal reflu...	ORPHA:79408
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Iridocyclitis, Spl...	OMIM:181000
Peeling Skin Syndrome 6	Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis	OMIM:618084
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopathy, Chronic o...	ORPHA:169090
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia	ORPHA:90037
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Autoimmunity, Splenomegaly, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Elastoderma	Erysipelas, Eczema	ORPHA:228240
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Enterocolitis, Anemi...	OMIM:616050
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Autoimmunity,...	ORPHA:83471
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Periorbi...	OMIM:142680
Inclusion Body Myositis	Autoimmunity	ORPHA:611
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis	OMIM:614441
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec...	ORPHA:381
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Bone marrow hy...	ORPHA:391
Neonatal Lupus Erythematosus	Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Maculopapular exanthema, Skin rash...	ORPHA:398124
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Reduced...	OMIM:242860
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology	ORPHA:2584
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea...	OMIM:615607
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukoc...	OMIM:615688
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu...	ORPHA:293173
Copper Deficiency, Familial Benign	Seborrheic dermatitis	OMIM:121270
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropa...	ORPHA:85450
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Skin rash, Splenomegaly, L...	ORPHA:829
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration	ORPHA:31
Pressure-Induced Localized Lipoatrophy	Inflammatory abnormality of the skin	ORPHA:90160
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Arthritis, Infectious encephalitis	ORPHA:42642
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Smooth philtrum, Keratitis, Synophrys, Wide mouth, Oligodontia, Conjunctivitis, Recurrent otitis ...	OMIM:602562
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel...	ORPHA:90362
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Hematuria...	ORPHA:77259
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,...	OMIM:612387
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec...	ORPHA:533
Ciliary Dyskinesia, Primary, 37	Female infertility, Bronchiectasis, Chronic rhinitis	OMIM:617577
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Mycosis Fungoides	Pruritus, Psoriasiform dermatitis, Eczema	OMIM:254400
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Erythroderma	OMIM:609180
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Ascites	OMIM:269920
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Decreased response to growth hormone st...	OMIM:307200
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Abnormal liver sonography, Autoimmune antibody positi...	ORPHA:90003
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Asthma, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased ci...	OMIM:619750
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Abnormal pattern of respiration	ORPHA:77260
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, Tubulointers...	OMIM:615862
Bleeding Disorder, Platelet-Type, 21	Psoriasiform dermatitis, Eczema, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired...	OMIM:617443
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Ureteral duplication, Telecanthus, Recurrent urinary tract infections,...	ORPHA:2036
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Babesiosis	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thromboc...	ORPHA:108
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Palmoplantar keratoderma, Conjunctivitis, Erythroderma	OMIM:242150
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Pancolitis, Folliculitis, Enterocolitis	OMIM:612567
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	ORPHA:172
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Generalized Pustular Psoriasis	Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma	ORPHA:247353
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Autoimmunity, Portal hypertension, Reduced forced expiratory volume i...	OMIM:613385
Immunodeficiency 54	Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Trichothiodystrophy 1, Photosensitive	Hyperkeratosis, Keratoconjunctivitis sicca, Hypogonadism, Erythroderma, Decreased circulating IgG...	OMIM:601675
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Ectropion, Recurrent skin infections, Protein...	ORPHA:33001
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis	OMIM:104570
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Functional abnormality of the bladder	OMIM:300076
Zika Virus Disease	Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, M...	ORPHA:448237
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Renal insufficiency, Proteinuria...	ORPHA:183
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Primary Biliary Cholangitis	Autoimmunity, Portal hypertension, Increased circulating IgA level, Antinuclear antibody positivi...	ORPHA:186
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab...	ORPHA:261529
Hereditary Orotic Aciduria	Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Abnormality of the ureter, Amin...	ORPHA:30
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, B ...	OMIM:601495
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal...	OMIM:275350
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Hepatitis, Bron...	OMIM:619381
Rift Valley Fever	Skin rash, Jaundice, Hepatitis, Uveitis, Anemia, Increased circulating IgG level, Increased circu...	ORPHA:319251
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Intestinal perforation, Hyperhidrosis, Hematuria, Tubulointersti...	ORPHA:90068
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Decreased circulating antibody level, Hydrocele tes...	OMIM:605309
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h...	OMIM:619767
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level, Functional abnormality of the bladder	ORPHA:2571
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic liver disease	OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Cryoglobulinemic Vasculitis	Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Circulating immune complexes, Me...	ORPHA:91138
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating total IgG, Splenomegaly,...	OMIM:300972
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis, Furrowed tongue, Oligo...	ORPHA:2483
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis	OMIM:167100
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Dehydration, Tubulointersti...	OMIM:251000
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating hepatomegaly, Fluctuating splenomegaly, Thrombocytopen...	OMIM:610377
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis	OMIM:602723
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Vomiting, Hepatic fibrosis, Vesicoureteral reflux, Bla...	OMIM:301068
Congenital Disorder Of Glycosylation, Type Iiw	Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulonephritis, Microscopic hematuria,...	OMIM:619525
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Epicanthus, Sparse eyelashes, Proteinuria, Sparse eyebrow, Hematuria, Tubulointersti...	OMIM:616901
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni...	OMIM:214500
Diffuse Cutaneous Mastocytosis	Pruritus, Erythroderma	ORPHA:79456
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Interstitial pneumonitis, Respiratory...	OMIM:620296
Hurler-Scheie Syndrome	Splenomegaly, Rhinitis, Abnormality of the tonsils, Hepatomegaly	ORPHA:93476
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg...	ORPHA:171
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Azoospermia, Decreased mean corpuscular volume, Poikilocytosis, Eleva...	OMIM:615234
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre...	ORPHA:252183
Shigellosis	Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Dehydration, Conjunctivitis, V...	ORPHA:810
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Leukopenia, Increased circulatin...	ORPHA:319218
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Intestinal obstruction, Orchitis, Splenomegaly, Per...	ORPHA:32960
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Psoriasis 15, Pustular, Susceptibility To	Psoriasiform dermatitis	OMIM:616106
Hemochromatosis, Type 2A	Splenomegaly, Azoospermia, Cirrhosis, Hepatomegaly	OMIM:602390
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Legionnaires Disease	Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Resp...	ORPHA:549
Goodpasture Syndrome	Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul...	OMIM:233450
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu...	OMIM:612301
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic a...	ORPHA:77297
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Jejunal atresia, Abnormality of the kidney, Esophageal atre...	ORPHA:391641
Tick-Borne Encephalitis	Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Myeli...	ORPHA:297
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthritis, Eczematoid dermatitis, Palmoplantar hyperkeratosis, Seborrheic dermatitis	OMIM:259100
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria	ORPHA:664
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Erythroderma, Decreased circulating antibody level	OMIM:617425
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Cleft soft palate, Cryptorchidism, Lower eyelid c...	OMIM:154500
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Antecubital pterygium, Stage 5 chron...	ORPHA:2614
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,...	ORPHA:1451
Cholesteryl Ester Storage Disease	Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis	ORPHA:75234
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Impaired T cell function, Unilateral renal agenesis, Splenomegaly, De...	OMIM:614576
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Thromb...	OMIM:603553
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Sinusitis, Bronchiectasis, Acute lymphoblastic leuk...	OMIM:208900
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Decreased circula...	ORPHA:420741
Zinc Deficiency, Transient Neonatal	Eczema	OMIM:608118
Scrub Typhus	Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Dyspnea, Lymphadenopathy, Restrictive ven...	ORPHA:83317
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Idiopathic Localized Lipodystrophy	Pruritus, Inflammatory abnormality of the skin	ORPHA:90158
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Increased circulating interferon-gamma concentrati...	ORPHA:85410
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A...	ORPHA:284
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Mogs-Cdg	Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Cardiomegaly, Hepatosplenomegaly, Dec...	ORPHA:79330
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis	ORPHA:863
Transketolase Deficiency	Secondary amenorrhea, Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Lacrimal Duct Defect	Sinusitis, Periorbital edema, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele	OMIM:149700
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Respiratory insufficiency, Arthritis, Lipogranulomatosis	OMIM:228000
Rasmussen Subacute Encephalitis	Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo...	ORPHA:1929
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Decreased lymph...	ORPHA:221139
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary...	ORPHA:2414
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Pneumonia, Absce...	ORPHA:125
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Pancreatic cysts...	OMIM:208500
Muir-Torre Syndrome	Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma ...	ORPHA:587
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast...	ORPHA:379
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo...	OMIM:613673
Pediatric-Onset Graves Disease	Episcleritis, Hepatomegaly, Autoimmunity, Keratitis, Splenomegaly, Jaundice, Anti-thyroid peroxid...	ORPHA:525731
Familial Mediterranean Fever	Osteoarthritis, Pedal edema, Nephrocalcinosis, Nephropathy, Pancreatitis, Lymphadenopathy, Nephro...	ORPHA:342
Adult-Onset Nemaline Myopathy	Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Paraproteinemia	ORPHA:171442
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Tubulointerstitial ne...	OMIM:603860
Hermansky-Pudlak Syndrome 2	Thin upper lip vermilion, Epicanthus, Absent platelet dense granules, Hepatomegaly, Carious teeth...	OMIM:608233
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt...	ORPHA:167
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Autoimmunity, Autoimmune hypoparathyroidism, Autoimmune antibody positiv...	ORPHA:36913
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Antiphospholipid antibody posi...	ORPHA:391487
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Biotinidase Deficiency	Skin rash, Conjunctivitis, Recurrent skin infections, Seborrheic dermatitis	OMIM:253260
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Familial Cold Urticaria	Arthritis, Conjunctivitis, Dehydration, Hyperhidrosis	ORPHA:47045
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Cytoplasmic antineutrophil antibody positivity, Oral ulcer, U...	OMIM:608710
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Epicanthus, Abnormality of the kidney, Sparse eyebrow, Cleft palate, Tubulointerstitial nephritis...	ORPHA:459061
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Caffey Disease	Increased circulating antibody level, Respiratory insufficiency	ORPHA:1310
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Ileal atresia, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical ...	OMIM:619351
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect...	ORPHA:678
Reynolds Syndrome	Hepatomegaly, Antinuclear antibody positivity, Splenomegaly, Jaundice, Anti-centromere antibody p...	OMIM:613471
Pachydermoperiostosis	Osteomyelitis, Acne, Seborrheic dermatitis, Arthritis, Palmoplantar keratoderma, Eczematoid derma...	ORPHA:2796
Scalp-Ear-Nipple Syndrome	Epicanthus, Telecanthus, Palpebral edema, Renal insufficiency, Unilateral renal agenesis, Lower e...	OMIM:181270
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Bone marrow hy...	ORPHA:88
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Splenomegaly, Increased circulating IgE level, Pancreatic islet-cell hyperplasia, P...	ORPHA:373
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce...	ORPHA:90186
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Exo...	OMIM:620005
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Primary Ciliary Dyskinesia	Male infertility, Abnormal sperm motility, Female infertility, Bronchiectasis, Recurrent otitis m...	ORPHA:244
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L...	ORPHA:33226
Kawasaki Disease	Pericarditis, Skin rash, Proteinuria, Edema, Myocarditis, Leukocytosis, Diarrhea, Cervical lympha...	ORPHA:2331
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility	OMIM:614324
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Anti-thyroid peroxidase antibo...	OMIM:610199
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pneumon...	ORPHA:293978
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Inflammation of the large intestine, Eczema, Erythroderma	OMIM:615895
Avian Influenza	Lymphopenia, Pneumonia, Thrombocytopenia, Diarrhea, Hepatitis, Leukopenia, Conjunctivitis, Vomiti...	ORPHA:454836
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Encephalitis Lethargica	Autoimmunity, Increased circulating antibody level, Urinary incontinence	ORPHA:83600
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph...	OMIM:616629
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Autoimmunity, Chylous ascites, Decreased circulating antibody l...	ORPHA:90363
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Lymphadenopathy, Restrictive ventilatory defect...	ORPHA:2905
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Febrile Infection-Related Epilepsy Syndrome	Autoimmunity	ORPHA:163703
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Trichothiodystrophy 3, Photosensitive	Increased circulating IgA level, Bilateral cryptorchidism, Abdominal adhesions, Neutropenia, Lymp...	OMIM:616395
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat...	OMIM:613070
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnormal cytokine signaling, Abnormal...	ORPHA:158048
Generalized Eruptive Keratoacanthoma	Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectropion	ORPHA:411777
Pemphigus Erythematosus	Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S...	ORPHA:79480
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Atrophic gastritis, Ch...	OMIM:615846
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
X-Linked Dominant Chondrodysplasia Punctata	Erythroderma	ORPHA:35173
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Dysphagia, Anemi...	OMIM:226600
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Upslanted palpebral fissur...	OMIM:617595
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:252920
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Conical tooth, Carious teeth, Lacrimal duct atresia, Lacrimal duct aplas...	OMIM:620192
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Proteinuria, Thrombocytopenia, Splenomegaly, Hematuria, Increased cir...	ORPHA:77261
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Leukocytosis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Gingivitis, Rec...	OMIM:116920
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Hyperparakeratosis, Seborrheic dermatitis	ORPHA:276280
Alg12-Cdg	Hypospadias, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib)...	ORPHA:79324
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hyp...	ORPHA:79259
Vici Syndrome	Lymphopenia, Decreased circulating IgG2 level, Decreased proportion of CD4-positive helper T cell...	OMIM:242840
Secondary Non-Traumatic Avascular Necrosis	Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Anemia, Ne...	ORPHA:505248
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in...	OMIM:153670
Linear Iga Dermatosis	Autoimmunity	ORPHA:46488
Fowler Urethral Sphincter Dysfunction Syndrome	Menorrhagia, Acne, Oligomenorrhea, Amenorrhea	ORPHA:2795
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, S...	ORPHA:91500
Lassa Fever	Dyspnea, Jaundice, Increased circulating IgM level, Conjunctivitis, Cough	ORPHA:99824
Acquired Ichthyosis	Autoimmunity	ORPHA:454
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Chondrodysplasia Punctata 2, X-Linked Dominant	Erythroderma	OMIM:302960
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Eczema, Cholangitis, Pruritus, Chronic hepatitis, Arthritis...	ORPHA:3260
Kaposiform Lymphangiomatosis	Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system, Hepatosple...	ORPHA:464329
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,...	OMIM:211600
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Entropion, Dysuria, Abnormality of neutrophils,...	ORPHA:36426
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Kindler Epidermolysis Bullosa	Urethral stricture, Recurrent skin infections, Abnormal dental enamel morphology, Premature loss ...	ORPHA:2908
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Hepatomegaly, Decreased testicular size, Impaired T cell function	OMIM:201100
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Renal insufficiency, Entropion, Dysuria, Malabsorption, Abnormality ...	ORPHA:537
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Anemia, Pulmonary ar...	OMIM:230800
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Abnormality of...	ORPHA:90321
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Adult Syndrome	Premature loss of permanent teeth, Absent nipple, Eczema, Nasolacrimal duct obstruction, Orofacia...	OMIM:103285
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malfo...	OMIM:208540
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Cryptorchidism, Keratoconjunctivitis sicca, Conjunct...	ORPHA:33364
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Dermatochalasis, Pyloric stenosis, Recurrent pneumonia, Pyelo...	ORPHA:90349
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus	ORPHA:90036
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat...	ORPHA:83617
Tumoral Calcinosis, Normophosphatemic, Familial	Conjunctivitis, Gingivitis	OMIM:610455
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis	OMIM:235555
Sepsis In Premature Infants	Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, ...	ORPHA:90051
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Intermediate Uveitis	Anterior uveitis, Psoriasiform dermatitis, Macular edema, Tubulointerstitial nephritis, Optic neu...	ORPHA:279914
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis, Hepatic steatosis, Hepatomegaly	OMIM:614582
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea	OMIM:110100
Bloom Syndrome	Elevated hemoglobin A1c, Bronchiectasis, Malar rash, Decreased circulating total IgM, Leukemia, D...	OMIM:210900
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Pancytopenia, Autoimmunity, Hypersplenism, Anti-thyroid peroxidase antibody positivity, Neutropen...	ORPHA:228426
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased testicular size, Anem...	OMIM:620040
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Preeclampsia	Autoimmunity, Thrombocytopenia	ORPHA:275555
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Hepatic fibrosis...	OMIM:212065
Chronic Mucocutaneous Candidiasis	Dyspareunia, Skin rash, Pruritus, Cheilitis, Hepatitis, Hyperkeratosis	ORPHA:1334
Vici Syndrome	Renal tubular acidosis, Decreased circulating IgG level, Ureteral atresia, Decreased circulating ...	ORPHA:1493
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Neutropen...	OMIM:232220
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Lymphocytosis, Short eye...	OMIM:258360
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Abnormality of the ...	ORPHA:84064
Hennekam Syndrome	Lymphopenia, Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Decrease...	ORPHA:2136
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Scheie Syndrome	Splenomegaly, Hepatomegaly, Mucopolysacchariduria	ORPHA:93474
Anti-Glomerular Basement Membrane Disease	Autoimmunity, Anemia	ORPHA:375
Viss Syndrome	Chronic gastritis, Eczema, Dyspnea, Asthma, Increased circulating IgE level, Hypereosinophilia, A...	OMIM:619472
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Isolated Congenital Alacrima	Keratitis, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Achalasia, Distic...	ORPHA:91416
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Abnormal B cell morphology, Hashimoto thyroiditis, Aplasia of the thymus	OMIM:618223
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Seborrheic dermatitis	OMIM:210210
Crouzon Syndrome	Dental crowding, Keratitis, High palate, Conjunctivitis, Shallow orbits, Dysgerminoma	OMIM:123500
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arth...	OMIM:249100
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating...	OMIM:607143
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Erythroid hypoplasia...	OMIM:612541
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Dysphagia,...	ORPHA:488627
Type 1 Diabetes Mellitus	Autoimmunity	OMIM:222100
Niemann-Pick Disease, Type C1	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon...	OMIM:257220
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho...	OMIM:611881
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi...	OMIM:615512
Alström Syndrome	Abnormality of dental color, Urinary incontinence, Decreased response to growth hormone stimulati...	ORPHA:64
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Red-brown urine, R...	ORPHA:228308
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Benign Schwannoma	Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Abnormal esoph...	ORPHA:252164
Adult Acute Respiratory Distress Syndrome	Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:70578
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Trichohepatoenteric Syndrome 1	Hepatomegaly, Hypospadias, Increased mean platelet volume, Abnormality of the pancreas, Splenomeg...	OMIM:222470
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Fetal ascites, Bone-marrow foam cells, Splenomegaly,...	OMIM:607625
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess...	OMIM:301074
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Gingival overgrowth, Nephrolithiasis, Gingivitis, Periodontitis, Abno...	ORPHA:722
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, Anemia	OMIM:239200
Uremic Pruritus	Recurrent skin infections, Inflammatory abnormality of the skin, Abnormality of serum cytokine le...	ORPHA:94059
Nocardiosis	Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, D...	ORPHA:31204
Say-Barber-Miller Syndrome	Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology,...	ORPHA:3132
Acute Lung Injury	Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali...	ORPHA:178320
Centrifugal Lipodystrophy	Lymphadenitis, Inflammatory abnormality of the skin	ORPHA:90156
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Nonprod...	ORPHA:99826
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Lacrimal duct stenosis, Carious teeth, Periorbital dermoid cyst, Dental malocclusion, Renal cyst,...	OMIM:615560
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Autoimmunity	ORPHA:363558
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,...	ORPHA:79329
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Recurrent aspiration pneumonia, Thromb...	OMIM:230900
Porphyria, Congenital Erythropoietic	Absent eyebrow, Hemolytic anemia, Erythrodontia, Hepatomegaly, Splenomegaly, Jaundice, Loss of ey...	OMIM:263700
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Hyperhidrosis, Tubulointerstitial nephritis, I...	ORPHA:358
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Hep...	OMIM:602782
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,...	ORPHA:157
Japanese Encephalitis	Respiratory distress, Neutrophilia, Increased circulating IgM level, Increased circulating antibo...	ORPHA:79139
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Anemia, Renal Fanconi syndrome...	OMIM:276700
Familial Tumoral Calcinosis	Nephrocalcinosis, Hepatomegaly, Splenomegaly	ORPHA:53715
Xeroderma Pigmentosum, Variant Type	Keratitis, Entropion, Conjunctivitis, Ectropion	OMIM:278750
Cranioectodermal Dysplasia 1	Hepatomegaly, Epicanthus, Telecanthus, Malformation of the hepatic ductal plate, Renal magnesium ...	OMIM:218330
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Abnormality of cy...	ORPHA:567983
Overlap Myositis	Autoimmunity, Antinuclear antibody positivity, Systemic lupus erythematosus, Leukopenia, Rheumato...	ORPHA:206572
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Symblepharon, Phimosis, Carious teeth, Urethral stenosis, Gin...	OMIM:173650
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Entropion, Conjunctivitis, Ectropion	OMIM:278740
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Autoimmunity	ORPHA:704
Lymphedema-Distichiasis Syndrome	Ptosis, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Cleft upper lip, Lymphede...	OMIM:153400
Dermatitis Herpetiformis	Autoimmunity, Microcytic anemia	ORPHA:1656
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Subungual hyperkeratosis, Recurrent skin infections, Eczema, Keratitis, Cryptorchidism, Hyperkera...	OMIM:308205
Sweet Syndrome	Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Leukocyt...	ORPHA:3243
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Autoimmune anti...	ORPHA:94089
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephrocalcinosis, Hypernatriur...	ORPHA:90041
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Chronic kidney disease, Paraproteinemia, Glomerul...	ORPHA:439232
Limited Cutaneous Systemic Sclerosis	Autoimmunity	ORPHA:220402
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Eczema, Seborrheic dermatitis	ORPHA:369950
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Aspiration pneumonia, Seborrheic dermatitis	OMIM:301072
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal...	ORPHA:542323
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Antinuclear...	ORPHA:1855
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Thrombocytopenia, Osteoarthritis, Hepati...	ORPHA:355
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Systemic lupus erythemato...	ORPHA:77293
Monosomy 22	Seborrheic dermatitis	ORPHA:96123
Isolated Biliary Atresia	Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi...	ORPHA:30391
Xeroderma Pigmentosum, Complementation Group D	Entropion, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	OMIM:278730
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Renal hypoplasia	OMIM:612918
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, Bladder diverticulum, Vomiting, Small ...	ORPHA:90348
Livedoid Vasculopathy	Pancytopenia, Autoimmunity, Antinuclear antibody positivity, Leukocytosis, Systemic lupus erythem...	ORPHA:542643
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Entropion, Conjunctivitis, Ectropion	OMIM:278720
22Q11.2 Deletion Syndrome	Acne, Impaired T cell function, Seborrheic dermatitis, Cryptorchidism, Arthritis, Chronic otitis ...	ORPHA:567
Lysinuric Protein Intolerance	Hepatomegaly, Thrombocytopenia, Splenomegaly, Stage 5 chronic kidney disease, Leukopenia, Aminoac...	OMIM:222700
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Autoimmunity	ORPHA:293964
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic lupus erythe...	OMIM:607944
Thrombocytopenia-Absent Radius Syndrome	Seborrheic dermatitis, Decreased circulating antibody level	OMIM:274000
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Abnormality of the menstrual cycle, Pruritus, Or...	ORPHA:556
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Oligozoospermia	OMIM:602668
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Dubowitz Syndrome	Aplastic anemia, Eczema, Acute lymphoblastic leukemia, Otitis media, Decreased circulating IgG le...	OMIM:223370
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Bullous Pemphigoid	Autoimmunity	ORPHA:703
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Scleromyxedema	Pruritus, Paraproteinemia	ORPHA:167635
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Seborrheic dermatitis	OMIM:300868
Yellow Fever	Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Skin rash, L...	ORPHA:99829
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Autoimmunity	ORPHA:69665
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Peripartum Cardiomyopathy	Autoimmunity, Anemia, Increased circulating interferon-gamma concentration	ORPHA:563
Stiff-Person Syndrome	Autoimmunity, Anemia	OMIM:184850
Tropical Endomyocardial Fibrosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cardiomegaly, Sple...	ORPHA:75565
Digeorge Syndrome	Acne, Impaired T cell function, Seborrheic dermatitis, Recurrent pneumonia, Hydrocele testis, Rec...	OMIM:188400
Hennekam-Beemer Syndrome	Mastocytosis	ORPHA:2135
Plague	Respiratory distress, Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Splenomegaly, Lymph...	ORPHA:707
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Defective production of NFKB1-dependent cytokines, Hepatomegaly	OMIM:612132
African Trypanosomiasis	Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Keratitis, Myocarditis, Sp...	ORPHA:3385
Turner Syndrome Due To Structural X Chromosome Anomalies	Premature ovarian insufficiency, Female infertility, Thyroiditis, Secondary amenorrhea, Gastroint...	ORPHA:99413
Mosaic Monosomy X	Premature ovarian insufficiency, Female infertility, Thyroiditis, Secondary amenorrhea, Gastroint...	ORPHA:99228
Monosomy X	Premature ovarian insufficiency, Female infertility, Thyroiditis, Secondary amenorrhea, Gastroint...	ORPHA:99226
Turner Syndrome	Premature ovarian insufficiency, Female infertility, Thyroiditis, Secondary amenorrhea, Gastroint...	ORPHA:881
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Cysticercosis	Iridocyclitis, Increased circulating antibody level, Infectious encephalitis	ORPHA:1560
Psoriasis-Related Juvenile Idiopathic Arthritis	Antinuclear antibody positivity, Autoimmunity, Abnormality of tumor necrosis factor secretion	ORPHA:85436
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Eosinophilia, Autoimmunity, Hashimoto thyroiditis	ORPHA:199299
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cholestasis, Tubulointerstitial ne...	OMIM:124000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Myasthenia Gravis	Autoimmunity	OMIM:254200
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Autoimmunity, Hypoplasia of the thymus, Rectal abscess, Hashimoto th...	ORPHA:436252
Chronic Thromboembolic Pulmonary Hypertension	Myeloproliferative disorder, Lupus anticoagulant, Antiphospholipid antibody positivity, Autoimmunity	ORPHA:70591
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral renal agenesis, Secretory IgA deficiency, Horseshoe kidney, Decrea...	ORPHA:500150
Pmm2-Cdg	Impaired neutrophil chemotaxis	ORPHA:79318

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 Traf3ip2

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 Traf3ip2.

No publications found that use IMPC mice or data for Traf3ip2.

Order Mouse and ES Cells

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
Traf3ip2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Traf3ip2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us