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Gene: Map3k14 MGI:1858204

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

mitogen-activated protein kinase kinase kinase 14

Synonyms:

Nik

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 Map3k14 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 Map3k14 (1 diseases)
Human diseases predicted to be associated with Map3k14 (1159 diseases)

The table below shows human diseases associated to Map3k14 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Immunodeficiency 112		Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449

The table below shows human diseases predicted to be associated to Map3k14 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Decreased circulating IgG level	OMIM:235550
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve...	OMIM:606843
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy, Impaired Ig class switch recombination, Complete or near-complete absence of spe...	OMIM:605258
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy, Impaired Ig class switch recombination, Decreased circulating IgG level, Increas...	OMIM:608106
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ...	OMIM:616452
Immunodeficiency 105	Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc...	OMIM:619924
Immunodeficiency 38 With Basal Ganglia Calcification	BCGitis, Lymphadenopathy, Severe viral infection, Recurrent viral infections, Recurrent mycobacte...	OMIM:616126
Tuftsin Deficiency	Recurrent infections, Abnormality of the spleen	OMIM:191150
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci...	OMIM:617514
Caspase 8 Deficiency	Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Complete or near-complete absence of ...	OMIM:607271
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent Staphylococcus aureus infections, Panhypogammaglobulinemia, Sclerosing cholangitis, Ski...	ORPHA:572
Bare Lymphocyte Syndrome, Type Ii	Villous atrophy, Neutropenia, Recurrent lower respiratory tract infections, Panhypogammaglobuline...	OMIM:209920
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific...	OMIM:614699
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti...	OMIM:615897
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl...	OMIM:618987
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly	OMIM:606445
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sclerosing cholangitis, Molluscum contagiosum, Recurrent sinusitis, Reduced natural killer cell c...	OMIM:243700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616911
Immunodeficiency 18	Defective T cell proliferation, Decreased circulating total IgM, Decreased proportion of CD3-posi...	OMIM:615615
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Immunodeficiency 92	Recurrent oral herpes, Hepatomegaly, Cholangitis, Sclerosing cholangitis, Persistent CMV viremia,...	OMIM:619652
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A...	OMIM:613493
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu...	OMIM:240500
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I...	OMIM:300400
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant...	OMIM:619846
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl...	OMIM:619707
Lymphoproliferative Syndrome 3	Lymphadenopathy, Decreased circulating antibody level, Partial absence of specific antibody respo...	OMIM:618261
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the...	OMIM:611926
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating total IgM, Agammaglobulinemia, Decreased circul...	OMIM:613500
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Failure to t...	ORPHA:169160
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re...	ORPHA:183675
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:620282
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia	OMIM:233650
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Lymphoproliferative Syndrome, X-Linked, 2	Hypertriglyceridemia, Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Recurrent in...	OMIM:300635
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Increased circulating antibody level, Decreased proportion of CD3-positive T cel...	ORPHA:169154
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Granuloma, Increased circulating lactate dehydrogenase concentration, Splen...	OMIM:619802
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga...	OMIM:613502
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count	OMIM:613495
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level,...	OMIM:616636
Immunodeficiency 62	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:618459
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia, Decreased circulating IgG level, Decreased circula...	OMIM:612692
Immunodeficiency 103, Susceptibility To Fungal Infections	Chronic oral candidiasis, Deep dermatophytosis, Lymphadenopathy, Abnormal natural killer cell cou...	OMIM:212050
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Immunodeficiency 56	Cirrhosis, Recurrent otitis media, Cholangitis, Recurrent respiratory infections, Panhypogammaglo...	OMIM:615207
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ...	ORPHA:98813
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Decreased circulating total IgM, Abnormal natural kill...	ORPHA:331206
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr...	OMIM:619281
Kimura Disease	Abnormal salivary gland morphology, Lymphadenopathy, Increased circulating IgE level, Eosinophili...	ORPHA:482
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
Immunodeficiency 102	Hepatomegaly, Anemia, Decreased circulating total IgM, Partial absence of specific antibody respo...	OMIM:301082
Immunodeficiency 32B	BCGitis, Hepatomegaly, Anemia, Recurrent infections, Abnormal circulating IgG level, Bronchiectas...	OMIM:226990
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Gastrointestinal hemorrhage, Cholestasis, Biliary hyperplasia, Splenomegaly, Abn...	ORPHA:731
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:2137
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circu...	OMIM:602450
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circul...	ORPHA:449395
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas...	OMIM:618969
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va...	OMIM:617765
Immunodeficiency 104	Pneumonia, Recurrent otitis media, Hepatomegaly, Failure to thrive secondary to recurrent infecti...	OMIM:608971
Caroli Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrah...	ORPHA:480520
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Steatorrhea, Elevated circulating al...	OMIM:613812
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Neutropenia, Anemia, Ileus, Lymphadenopathy, Arthritis, Increased circulating Ig...	OMIM:304790
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Decreased circulating total IgM, Increased circulating interleukin 6...	OMIM:620430
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,...	OMIM:616100
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Immunodeficiency 11B With Atopic Dermatitis	Severe cytomegalovirus infection, Pneumonia, Increased circulating IgE level, Atopic dermatitis, ...	OMIM:617638
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG...	OMIM:619220
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormality of the kidney, Prostatitis, Abnormal salivary gland morphol...	ORPHA:449432
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Abnormal immunoglobulin level, Decreased proportion of CD3-positive T cel...	ORPHA:276
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc...	OMIM:615952
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ...	OMIM:618944
Psoriasis 14, Pustular	Nail dystrophy, Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis,...	OMIM:614204
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Splenomegaly, Decreased lymphocyte apoptosis, Increased circulating ...	OMIM:603909
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Decreased lymphocyte proliferation...	ORPHA:911
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm...	ORPHA:100024
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent sinusitis, Chronic oral candidiasis, Abnormality of the dentition, Atopic dermatitis, R...	OMIM:618282
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec...	OMIM:613953
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, A...	ORPHA:277
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Dental crowding, Increased circulating IgE level, Eczematoid dermatitis, ...	OMIM:618523
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level, Erythroid hypoplasia	OMIM:242880
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi...	OMIM:269840
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Immunodeficiency 10	Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Lymphadenopathy, Inc...	OMIM:612783
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Cirrhosis, Cholangitis, Pancytopenia, Recurrent infections, Thyroiditis, Neutropenia in presence ...	ORPHA:228426
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Respiratory tract infection...	ORPHA:444463
Pgm3-Cdg	Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce...	ORPHA:443811
Cystic Echinococcosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Increased cir...	ORPHA:400
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Elevated circulating...	ORPHA:69663
Kerion Celsi	Lymphadenopathy	ORPHA:499
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El...	ORPHA:562639
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Aspergillosis	Abnormality of the kidney, Hypersensitivity pneumonitis, Invasive pulmonary aspergillosis, Pleuri...	ORPHA:1163
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly	ORPHA:100025
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Lymphadenopathy, Increased circulating IgG level, Increased circulating IgE level, Increased B ce...	OMIM:618982
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Thick hair, Intrahepatic biliary atresia, Oligodo...	OMIM:607626
Immunodeficiency 50	Decreased circulating antibody level, Neutropenia, Lymphopenia	OMIM:300988
Activated Pi3K-Delta Syndrome	Severe cytomegalovirus infection, Recurrent otitis media, Severe Epstein Barr virus infection, He...	ORPHA:397596
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Recurrent Staphylococcus aureus infections, T lymphocytopenia, Sinusitis, O...	ORPHA:83471
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia,...	ORPHA:79302
Autosomal Agammaglobulinemia	Chronic otitis media, Sepsis, Recurrent respiratory infections, Recurrent infections, Arthritis, ...	ORPHA:33110
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:601859
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Increased serum bile acid concentration, Hepatomeg...	OMIM:602347
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Microsporidiosis	Bronchitis, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Bronchio...	ORPHA:2552
Alveolar Echinococcosis	Decreased liver function, Jaundice, Liver abscess, Cholangitis, Increased circulating antibody le...	ORPHA:284
Roifman Syndrome	Recurrent otitis media, Lymphadenopathy, Decreased circulating antibody level, Eczematoid dermati...	ORPHA:353298
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha...	OMIM:300853
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Immunodeficiency 25	Autoimmune hemolytic anemia, Recurrent candida infections, Increased circulating IgG level, Compl...	OMIM:610163
Hardikar Syndrome	Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, B...	OMIM:301068
Gallbladder Disease 1	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho...	OMIM:600803
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgE, T lymphocytopenia, Decreased circulat...	OMIM:619510
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Decreas...	OMIM:614069
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Cellulitis, Neutropenia, Recurrent aphthous stomatitis, Acute myelo...	ORPHA:486
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Gastroesophageal reflux, Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltr...	OMIM:620532
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Skin rash, Sinusitis, Splenomegaly, Aplasia of the thymus, Lymphopenia, Decreased circulating IgG...	OMIM:102700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Inguinal hernia, Cholelithiasis, Seborrheic dermatitis, B lymphocytopenia, Pancreat...	ORPHA:83617
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased c...	OMIM:620210
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal ma...	OMIM:243150
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Liver Disease, Severe Congenital	Nail dystrophy, Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoprote...	OMIM:619991
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Lymphadenopat...	OMIM:606367
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural...	OMIM:613101
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocyte transfo...	OMIM:153600
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n...	OMIM:615401
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope...	OMIM:308240
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Abnormality of the kidney, Prostatitis, Pancreatitis, Cholangitis, Elev...	ORPHA:449563
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:30391
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Anal fissure, Crohn's disease, Onychomycosis, Granuloma, Splenomegaly, Lymphope...	OMIM:618935
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism	OMIM:183350
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Intestinal malrotation,...	OMIM:208540
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ...	OMIM:608184
Immunodeficiency 23	Recurrent Staphylococcus aureus infections, Molluscum contagiosum, Severe varicella zoster infect...	OMIM:615816
Biliary Atresia, Extrahepatic	Cirrhosis, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:210500
X-Linked Agammaglobulinemia	Chronic otitis media, Sepsis, Anemia, Hypocalcemia, Arthritis, Skin rash, Alopecia, Glossoptosis,...	ORPHA:47
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:613027
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Nail dystrophy, Elevated circulating hepatic transaminase concentration, Abnormal intestine morph...	ORPHA:37042
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE...	OMIM:615767
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
Immunodeficiency 9	Abnormal natural killer cell count, Hypoplasia of the thymus, Decreased circulating IgG level, Ly...	OMIM:612782
Cyclic Neutropenia	Perianal abscess, Sinusitis, Opportunistic infection, Lymphopenia, Cellulitis, Recurrent tonsilli...	ORPHA:2686
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bon...	ORPHA:3261
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating...	OMIM:613501
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Legionnaires Disease	Myocarditis, Sepsis, Jaundice, Pancreatitis, Recurrent pharyngitis, Hematuria, Renal insufficienc...	ORPHA:549
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus...	OMIM:620632
Immunodeficiency 11A	Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr...	OMIM:615206
Immunodeficiency 7	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Lymp...	OMIM:615387
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hematochezia, Splenomegaly, Paralytic ileus, Intraalveolar phospholipid accumulation, Neutrophili...	OMIM:620565
Reticular Dysgenesis	Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu...	OMIM:267500
Roifman Syndrome	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Eczematoid dermatitis, Hip contracture, Re...	OMIM:616651
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le...	OMIM:618048
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, De...	OMIM:614470
Netherton Syndrome	Sepsis, Intestinal atresia, Brittle hair, Increased circulating IgE level, Hypereosinophilia, Spa...	OMIM:256500
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Erythroderma, Hypoplas...	OMIM:603554
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Recurrent candida infections, B lymphocytopenia, Increased circulating IgE ...	ORPHA:217390
Melioidosis	Lung abscess, Unusual skin infection, Sepsis, Pneumonia, Prostatitis, Liver abscess, Acute infect...	ORPHA:31202
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Immunodeficiency 32A	Recurrent infections, Lymphadenitis, BCGitis, Lymphadenopathy	OMIM:614893
Griscelli Syndrome	Abnormal circulating lipid concentration, Premature graying of hair, Jaundice, Hepatomegaly, Lymp...	ORPHA:381
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Recurrent lower respiratory tract infections, Increased circu...	OMIM:620603
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Pan...	OMIM:618986
Omenn Syndrome	Sepsis, Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Eryth...	ORPHA:39041
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Decreased circulating complement C3 concentration, Hepatomegaly, Med...	OMIM:615559
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Renal insu...	ORPHA:139402
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch...	ORPHA:70593
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, Skin r...	OMIM:607115
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ...	OMIM:619705
Agammaglobulinemia, X-Linked	Decreased circulating IgE, T lymphocytopenia, Recurrent sinusitis, Lymph node hypoplasia, Neutrop...	OMIM:300755
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope...	ORPHA:169079
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Sepsis, Hepatomegaly, Pancreatitis, Anemia, Renal tubular dysfunction, Hyperammonemia, Thrombocyt...	ORPHA:289916
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Arthritis, Abnormal pleura morphology, Lymphopenia	ORPHA:2582
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Eosinophilia, Hypothyroidism, Recurrent viral...	OMIM:618999
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun...	ORPHA:35078
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level, Lymphopenia	OMIM:247800
Schimke Immuno-Osseous Dysplasia	Abnormal intestine morphology, Hyperlipidemia, Abnormal lymphocyte physiology, Microdontia, Bone ...	ORPHA:1830
Igg4-Related Thyroid Disease	Euthyroid goiter, Sclerosing cholangitis, Hypocalcemia, Thyroiditis, Sialadenitis, Abnormal pitui...	ORPHA:64744
Autoinflammatory Disease, Systemic, X-Linked	B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate...	OMIM:301081
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m...	OMIM:202700
Idiopathic Hypereosinophilic Syndrome	Elevated circulating hepatic transaminase concentration, Portal fibrosis, Splenomegaly, Dysphagia...	ORPHA:3260
Macrophage Activation Syndrome	Hypertriglyceridemia, Decreased liver function, Increased circulating lactate dehydrogenase conce...	ORPHA:158061
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ...	OMIM:615214
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Abscess, Splenomegaly, Intermittent thrombocytopenia, Abnorma...	OMIM:150550
Meckel Syndrome, Type 7	Multiple glomerular cysts, Inguinal hernia, Multicystic kidney dysplasia, Cholestasis, Biliary ci...	OMIM:267010
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Splenomegaly, Renal insuffi...	ORPHA:79312
Al Amyloidosis	Gastrointestinal hemorrhage, Increased circulating antibody level, Dysphagia, Abnormality of the ...	ORPHA:85443
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, Pulmonary pneumatocele, Chronic mucocutaneous candidiasis, Increased circula...	OMIM:619752
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Chronic otitis media, Dystrophic fingernails, Atelectasis, Delayed eruption of teeth, Recurrent i...	ORPHA:2314
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Long philtrum, Recurrent infections, Hypodontia, Oligodontia, Narrow mouth, Microdontia, Thin eye...	OMIM:618092
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Cleft palate, Hepatic fibrosis, Multicystic kidney dysplas...	OMIM:607361
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Meckel Syndrome, Type 2	Renal cyst, Bile duct proliferation, Intestinal malrotation, Omphalocele, Cleft palate	OMIM:603194
Cranioectodermal Dysplasia 2	Elevated circulating hepatic transaminase concentration, Portal fibrosis, Cholestasis, Biliary ci...	OMIM:613610
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Skin rash, Biliary cirrhosis, Leuk...	ORPHA:2298
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Sple...	OMIM:618495
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Reduced natural killer cel...	OMIM:615592
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia	OMIM:616873
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Elevated total serum tryptase, Hypereosinophilia, Histiocytosis, Leukemia	ORPHA:157991
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Recurrent infections, Decreased circulating antibody level, Anal atresia, Eosinophilia, Lymphopen...	OMIM:617425
Idiopathic Chronic Eosinophilic Pneumonia	Hypersensitivity pneumonitis, Abnormality of the gastrointestinal tract, Atelectasis, Elevated ci...	ORPHA:2902
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Selective Igm Deficiency	Decreased proportion of CD3-positive T cells, Crohn's disease, Recurrent vulvovaginal candidiasis...	ORPHA:331235
Wiskott-Aldrich Syndrome	Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lym...	OMIM:301000
Immunodeficiency 96	Defective T cell proliferation, Decreased circulating total IgM, Increased mean corpuscular volum...	OMIM:619774
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Immunodeficiency 27A	Anemia, Lymphadenopathy, Thrombocytosis, Increased circulating IgG level, Leukocytosis, Increased...	OMIM:209950
Immunodeficiency 95	Increased circulating IgG3 level, Decreased circulating IgG3 level, Lymphopenia	OMIM:619773
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Recurrent bronchopulmonary infections, Low posterior hairline, Bone marrow hypoc...	OMIM:617303
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Abnormal pulmonary interstitial morphology, Elevated circula...	OMIM:613658
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis	ORPHA:26137
Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the eye, Jau...	ORPHA:39812
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Renal insufficiency, Hepatic fibrosis, Renal cyst, Polycystic liver disease, Bile duct ...	OMIM:208500
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Panhypogammaglobulinemia, Decreased res...	OMIM:307200
Ebola Hemorrhagic Fever	Sepsis, Gastrointestinal hemorrhage, Increased circulating antibody level, Melena, Acute pancreat...	ORPHA:319218
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Igg4-Related Aortitis	Intestinal obstruction, Increased circulating antibody level, Elevated circulating C-reactive pro...	ORPHA:449400
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Decreased circula...	OMIM:615122
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating hepatic transaminase concentration, Prolonged neonatal jaundice, Splenomegal...	OMIM:619525
Immunodeficiency 61	Decreased circulating IgG4 level, Decreased circulating total IgM, Decreased circulating IgG2 level	OMIM:300310
Combined Immunodeficiency-Enteropathy Spectrum	Recurrent abscess formation, Autoimmune hemolytic anemia, Gastrointestinal atresia, Nail dystroph...	ORPHA:436252
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Hirsutism, Synophrys, Decreased circulating IgG level, Decreased circulating total IgM, Decreased...	OMIM:300861
Hereditary Folate Malabsorption	Cheilitis, Gastroesophageal reflux, Pancytopenia, Glossitis, Recurrent urinary tract infections, ...	ORPHA:90045
Eosinophilic Gastroenteritis	Steatorrhea, Protein-losing enteropathy, Anemia, Abnormality of the gastrointestinal tract, Eleva...	ORPHA:2070
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholestasis, Microdontia, Bifid uvula, Wide mouth, Umbilical hernia, Access...	OMIM:266920
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating ...	ORPHA:470
Eosinophilia, Familial	Anemia, Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Eosinophilia	OMIM:131400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Arthrit...	OMIM:601457
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel...	OMIM:613179
D-Bifunctional Protein Deficiency	Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin...	OMIM:261515
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Hyperammonemia, Leukopenia, Thrombocytopen...	ORPHA:27
Immune Dysregulation, Autoimmunity, And Autoinflammation	Decreased circulating complement C3 concentration, Cervical lymphadenopathy, Anemia, Increased ci...	OMIM:620514
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Decreased circulating IgG level, Abnormal circulating IgA level,...	OMIM:241600
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Duodenal ulcer, Recurrent Staphylococcus aureus infections, Skin rash, Dysphagia, Recurrent cutan...	OMIM:147060
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess	OMIM:612260
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent...	ORPHA:65682
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level	OMIM:215250
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Renal insufficiency, Lacticaciduria, Hyperamylasemia, Hyperalaninemia, Elevated cir...	OMIM:619386
Immunodeficiency 82 With Systemic Inflammation	Recurrent abscess formation, Duodenal ulcer, Crohn's disease, Skin rash, Bronchitis, T lymphocyto...	OMIM:619381
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Lipoatrophy, Advanced eruption of teeth, Hepatomegaly, Pancreatitis, Glomer...	ORPHA:2348
Heme Oxygenase 1 Deficiency	Sepsis, Hepatomegaly, Increased circulating interleukin 6 concentration, Thrombocytosis, Elevated...	OMIM:614034
Meckel Syndrome, Type 6	Aplasia of the bladder, Renal cyst, Bile duct proliferation, Cleft upper lip, Cleft palate, Pulmo...	OMIM:612284
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Hepatomegaly, Pancreatitis, Polycystic ovaries, Hepatic steatosis	ORPHA:79084
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Splenomegaly	ORPHA:37748
Variant Abeta2M Amyloidosis	Gastrointestinal infarctions, Abnormal salivary gland morphology, Intestinal perforation, Renal a...	ORPHA:314652
Igg4-Related Pachymeningitis	Pancreatitis, Elevated circulating C-reactive protein concentration, Parotitis, Lymphadenitis, Re...	ORPHA:449427
Meckel Syndrome, Type 5	Cleft upper lip, Cleft palate, Renal cyst, Bile duct proliferation	OMIM:611561
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Giant cell hepatitis, Elevated circulating hepatic transaminase concentration, Jaund...	ORPHA:79303
Bone Marrow Failure Syndrome 4	Anemia, Decreased circulating antibody level, Bone marrow hypocellularity, Thrombocytopenia, Leuk...	OMIM:618116
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leuko...	OMIM:615285
Coccidioidomycosis	Skin rash, Granuloma, Pericarditis, Unusual CNS infection, Erythema nodosum, Coccidioidal meningi...	ORPHA:228123
Porphyria Cutanea Tarda	Elevated circulating hepatic transaminase concentration, Increased urinary porphobilinogen, Abnor...	ORPHA:101330
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith...	ORPHA:227990
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Short philtrum, Hirsutism, T lymphocy...	OMIM:617237
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, 3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase ...	OMIM:618329
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Beta-Thalassemia	Abnormality of iron homeostasis, Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenome...	ORPHA:848
Bacterial Toxic-Shock Syndrome	Skin rash, Severe varicella zoster infection, Sinusitis, Cellulitis, Elevated circulating creatin...	ORPHA:36234
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Pleural thickening, Reduced circulating interle...	OMIM:619632
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C...	ORPHA:171
Avian Influenza	Pneumothorax, Acute kidney injury, Sepsis, Elevated circulating hepatic transaminase concentratio...	ORPHA:454836
Acute Generalized Exanthematous Pustulosis	Cheilitis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Renal insuff...	ORPHA:293173
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu...	OMIM:618805
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Premature loss of teeth, Gingivitis, Neutrop...	OMIM:162700
Immunodeficiency 40	Chronic oral candidiasis, Rectal fistula, Recurrent otitis media, Macrovesicular hepatic steatosi...	OMIM:616433
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Biliary cirrhosis, Leukopenia, Aplasia/Hypoplasia of the spleen, Non-caseating...	ORPHA:227982
Reticular Dysgenesis	Anemia, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia of the thymus, Abnor...	ORPHA:33355
Congenital Enterovirus Infection	Myocarditis, Sepsis, Neutropenia, Anemia, Abnormal macrophage morphology, Skin rash, Cholestasis,...	ORPHA:292
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Nail dystrophy, Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lympho...	OMIM:618806
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:829
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Peeling Skin Syndrome 1	Nail dystrophy, Brittle hair, Increased circulating IgE level, Erythroderma, Eosinophilia, Palmop...	OMIM:270300
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he...	ORPHA:543
Immunodeficiency 57 With Autoinflammation	Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe...	OMIM:618108
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Short philtrum, Pancytopenia, Gastroesophageal reflux, Camptodactyly, Portal hypert...	OMIM:613385
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Immunodeficiency 22	Anemia, Decreased circulating IgE, Decreased circulating IgG level, Decreased proportion of CD4-p...	OMIM:615758
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Steatorrhea, Biliary cirrhosis, Onychomycosis, Splenome...	ORPHA:186
Cadds	Cholestasis, Increased circulating very long-chain fatty acid concentration, Elevated circulating...	ORPHA:369942
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Methylmalonic acidemia, Pancreatitis, Hepatomegaly, Hyperammonemia, Leuko...	OMIM:251000
Tularemia	Pneumonia, Anemia, Increased circulating antibody level, Mediastinal lymphadenopathy, Inflammator...	ORPHA:3392
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat...	OMIM:232220
Primary Sjögren Syndrome	Increased circulating antibody level, Normochromic anemia, Optic neuritis, Bronchitis, Biliary ci...	ORPHA:289390
Q Fever	Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr...	ORPHA:781
Joubert Syndrome 6	Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Bile duct proliferation	OMIM:610688
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi...	OMIM:266265
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia, Abnormality of the gingiva	ORPHA:517
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis, Silver-gray hair, Melanin pigment aggregation...	OMIM:607624
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Meckel Syndrome, Type 4	Cleft palate, Renal cyst, Bile duct proliferation	OMIM:611134
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Primary hypothyroidism, Abnormal intestine morphology, Lymphopenia, Recurrent Aspergillus infecti...	ORPHA:391487
Propionic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Increased level of hippuric acid in urine, Pancytopenia, Hype...	OMIM:606054
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent abscess formation, Elevated circulating hepatic transaminase concentration, Panhypogamm...	ORPHA:79124
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i...	ORPHA:318
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal pulmonary interstitial morphology, Abnormal salivary gland mor...	OMIM:181000
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis, Abnormality of complement system	OMIM:613783
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency 27B	Recurrent mycobacterium avium complex infections, Generalized lymphadenopathy, Recurrent mycobact...	OMIM:615978
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp...	OMIM:617006
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Increased adipos...	OMIM:608600
Meckel Syndrome, Type 1	Intestinal malrotation, Wide mouth, Splenomegaly, Cystic renal dysplasia, Accessory spleen, Polyc...	OMIM:249000
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Myositis, Flexion contracture, Eosinophilia, Elevated circulating creatine kinase concentration	OMIM:253600
Immunodeficiency 35	Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterial infections, Recu...	OMIM:611521
Immunodeficiency, Common Variable, 6	Hepatomegaly, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:613496
Eosinophilic Fasciitis	Myositis, Abnormal eosinophil morphology, Arthritis, Eosinophilia, Cellulitis, Fasciitis	ORPHA:3165
Complement Component C1R/C1S Deficiency	Recurrent bronchitis, Discoid lupus rash, Arthritis, Reduced circulating complement concentration...	OMIM:216950
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Pyoderma, Emphysema, Abnormally low T cell receptor excision ci...	OMIM:242700
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu...	ORPHA:73263
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Ataxia-Telangiectasia	Hypoplasia of the thymus, T lymphocytopenia, Decreased circulating IgG level, Acute lymphoblastic...	OMIM:208900
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Lipoatrophy, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperuricemia, Loss of ...	ORPHA:79083
Hepatitis Delta	Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ...	ORPHA:402823
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Immunodeficiency 47	Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch...	OMIM:300972
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn...	OMIM:619767
Cach Syndrome	Pancreatitis, Nonketotic hyperglycinemia, Optic neuritis, Renal hypoplasia, Hepatosplenomegaly, F...	ORPHA:135
Iga Pemphigus	Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ...	ORPHA:555905
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Intrahepatic cholestasis, Giant cell hepatitis, Jaundice, Hepatomegaly, Elevated circu...	OMIM:607765
Thyrocerebrorenal Syndrome	Euthyroid goiter, Nephritis, Thrombocytopenia, Renal insufficiency	ORPHA:3327
Whim Syndrome	Sepsis, Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymph...	ORPHA:51636
Mccune-Albright Syndrome	Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Ovarian cyst, Hypophosphatemia,...	ORPHA:562
Systemic Mastocytosis With Associated Hematologic Neoplasm	Peptic ulcer, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chron...	ORPHA:98849
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:242860
Isolated Agammaglobulinemia	Sepsis, Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal ly...	ORPHA:229717
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating antibody level, Decreased circulating IgA level	OMIM:617744
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Argininosuccinic aciduria, Portal...	OMIM:603471
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:613796
Pediatric Systemic Lupus Erythematosus	Skin rash, Discoid lupus rash, Increased circulating lactate dehydrogenase concentration, Leukope...	ORPHA:93552
Candidiasis, Familial, 1	Premature loss of teeth, Chronic mucocutaneous candidiasis, Cutaneous anergy, Recurrent viral inf...	OMIM:114580
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly...	OMIM:603552
Common Variable Immunodeficiency	Chronic otitis media, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, E...	ORPHA:1572
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Cryoglobulinemic Vasculitis	Gastrointestinal infarctions, Glomerulopathy, Hepatomegaly, Hematuria, Mediastinal lymphadenopath...	ORPHA:91138
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Increased proportion of CD4-positive T cells, Increased circulating IgA level, L...	OMIM:617099
Neonatal Alloimmune Neutropenia	Sepsis, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia, Meningitis, Se...	ORPHA:464370
Monocyte Chemotactic Disorder	Chronic mucocutaneous candidiasis, Cutaneous anergy	OMIM:252250
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Abnormality of the kidney, Chronic lymphatic leukemia,...	ORPHA:91139
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, D...	OMIM:275350
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Decr...	ORPHA:508533
Late-Onset Isolated Acth Deficiency	Sepsis, Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Hyperuricemia, Adrenocorticotro...	ORPHA:199299
Immunodeficiency 88	BCGosis, Eosinophilia	OMIM:619630
Lipase Deficiency, Combined	Hypertriglyceridemia, Pancreatitis, Lipodystrophy	OMIM:246650
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology, Cryptorchidism	OMIM:616910
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Intestinal obstruction, Glomerulopathy, Hematuria, Gastroesophageal reflux, Renal in...	ORPHA:183
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Hepatocellular adenoma, Enlarged kidney, Tubulointerstitial fibrosis, Chron...	ORPHA:79259
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Abnormal renal tubule morphology, Steatorrhea, Anemia, Hypochromic mic...	ORPHA:440713
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:208085
Infection-Related Hemolytic Uremic Syndrome	Decreased urine output, Oliguria, Intussusception, Myocarditis, Acute kidney injury, Increased ci...	ORPHA:544482
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopenia, Abnorm...	ORPHA:507
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Unconjugated hyperbilirubinemia, Reticulocytosis, Increased circulating lactate dehydrogenase con...	ORPHA:90038
Papa Syndrome	Increased circulating antibody level, Lymphadenopathy	ORPHA:69126
Sarcoidosis	Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Erythema nodosum,...	ORPHA:797
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Recurrent infections, Increased circulating thyroglobulin concentrati...	OMIM:610199
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi...	ORPHA:905
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Cirrhosis, Elevated circulating hepatic tr...	OMIM:614576
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hypohidrosis, Enamel hypoplasia, Carious teeth, Sparse lateral eyebrow, Thick vermilion border, R...	ORPHA:363523
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Myositis, Thyroidi...	ORPHA:79078
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia	OMIM:193670
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Recurrent aphthous stomatitis, Decreased proportion of CD3-positive T c...	ORPHA:275
Postinfectious Vasculitis	Recurrent Staphylococcus aureus infections, Increased circulating antibody level, Abnormal circul...	ORPHA:48435
Complement Component 4B Deficiency	Recurrent otitis media, Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Decre...	OMIM:614379
Congenital Syphilis	Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Notched primary central incisor, High palate,...	ORPHA:499009
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Panniculitis, Hepatomegaly, Emphysema, Bronchitis, Hepatocellular carcinoma,...	ORPHA:60
Systemic Capillary Leak Syndrome	Myocarditis, Abnormal renal tubule morphology, Pulmonary edema, Pancreatitis, Pleural effusion, L...	ORPHA:188
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Chylous Ascites	Abnormal intestine morphology, Pancreatitis	ORPHA:1160
Biliary, Renal, Neurologic, And Skeletal Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Everted lower lip vermilion, P...	OMIM:619534
Alpha-1-Antitrypsin Deficiency	Gastric varix, Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emph...	OMIM:613490
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Steatorrhea, Dental crowding, Microdontia, Wide mouth, Splenomegaly, Re...	OMIM:618268
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Decreased liver function, Cholestatic liver disease, Elevated circulating h...	ORPHA:540
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Lymphadenitis, Coccidioid...	ORPHA:319552
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo...	OMIM:619374
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total ...	OMIM:612301
Familial Mediterranean Fever	Intestinal obstruction, Skin rash, Pericarditis, Nephrocalcinosis, Acute hepatic failure, Splenom...	ORPHA:342
Immunodeficiency 37	Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-...	OMIM:616098
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Hepatocellular Carcinoma	Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis	OMIM:114550
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Fusariosis	Onychomycosis, Sinusitis, Granuloma, Unusual CNS infection, Lymphopenia, Cellulitis, Neutropenia,...	ORPHA:228119
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Portal hypertension, Cryptorchidism, Decreased circulating IgG level, S...	OMIM:620005
Toxic Epidermal Necrolysis	Sepsis, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Pan...	ORPHA:537
Rift Valley Fever	Hematemesis, Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hematuria...	ORPHA:319251
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:301045
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Increased circulat...	ORPHA:158057
Boutonneuse Fever	Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopen...	ORPHA:83313
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count	OMIM:131430
Marburg Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Sk...	ORPHA:99826
Bloom Syndrome	Cheilitis, Bronchitis, Skin rash, Severe varicella zoster infection, Acute myeloid leukemia, Recu...	ORPHA:125
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Loss of gluteal subcutaneous adipose tissue, Lo...	ORPHA:435651
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Lipoatrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Pancrea...	ORPHA:280365
Fetal Cytomegalovirus Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemia, Thromboc...	ORPHA:294
Esophagitis, Eosinophilic, 2	Eosinophilia, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Esophagitis, Dysphagia	OMIM:610247
Mogs-Cdg	Hepatomegaly, Alopecia, Decreased circulating antibody level, Hirsutism, Long eyelashes, Decrease...	ORPHA:79330
Aicardi-Goutieres Syndrome 9	Elevated circulating hepatic transaminase concentration, Chilblains, Pericarditis, Stage 5 chroni...	OMIM:619487
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Abnormal lymphocyte morphology, Spl...	ORPHA:3162
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis, Dysphagia	OMIM:618230
Immunodeficiency 46	Decreased circulating antibody level, Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod...	ORPHA:169105
Granulomatosis With Polyangiitis	Chronic otitis media, Intestinal obstruction, Gastrointestinal hemorrhage, Inflammatory abnormali...	ORPHA:900
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic oral candidiasis, Nail dystrophy, Hypoparathyroidism, Cholelithiasis, Chronic active hepa...	OMIM:240300
Myh9-Related Disease	Neutrophil inclusion bodies, Elevated circulating hepatic transaminase concentration, Giant plate...	ORPHA:182050
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Congenital alopecia totalis, T lymphocytopenia	ORPHA:169095
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Increased circulating antibody level, Leukopenia, Spleno...	ORPHA:77259
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Intestinal malrotation, ...	ORPHA:3032
Stevens-Johnson Syndrome	Sepsis, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Pan...	ORPHA:36426
Aicardi-Goutieres Syndrome 7	Hematemesis, Increased circulating antibody level, Skin rash, Chilblains, Hematochezia, Splenomeg...	OMIM:615846
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Recurrent infections, Decreased circulating antibody level, Recurren...	OMIM:616576
Ataxia-Telangiectasia	Decreased circulating antibody level, Abnormal testis morphology, Lymphopenia, Aplasia/Hypoplasia...	ORPHA:100
Felty Syndrome	Chronic otitis media, Sinusitis, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Celluli...	ORPHA:47612
Rat-Bite Fever	Morbilliform rash, Myocarditis, Sepsis, Pancreatitis, Anemia, Arthritis, Skin rash, Parotitis, Ly...	ORPHA:31205
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic...	ORPHA:811
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Steatorrhea, Rectal prolapse, Hypercalciuria, Meconium ile...	OMIM:219700
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia	OMIM:615190
Incontinentia Pigmenti	Scarring, Breast hypoplasia, Nail dystrophy, Coarse hair, Breast aplasia, Conical tooth, Delayed ...	OMIM:308300
Mirizzi Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ...	ORPHA:521219
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	3-Methylglutaconic aciduria, Jaundice, Elevated circulating hepatic transaminase concentration, H...	OMIM:203700
Hereditary Chronic Pancreatitis	Jaundice, Elevated circulating C-reactive protein concentration, Abnormal circulating enzyme conc...	ORPHA:676
Thyrocerebroretinal Syndrome	Goiter, Nephritis, Thrombocytopenia	OMIM:274240
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Hyperparathyroidism 2 With Jaw Tumors	Parathyroid carcinoma, Renal cortical adenoma, Polycystic kidney dysplasia, Recurrent pancreatiti...	OMIM:145001
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hyperammonemia, Pancreatitis, Recurrent upper respiratory tract infections	OMIM:620137
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Mucoepithelial Dysplasia, Hereditary	Coarse hair, Nail dystrophy, Hematuria, Melena, Chronic mucocutaneous candidiasis, Keratoconjunct...	OMIM:158310
Systemic Lupus Erythematosus	Pleuritis, Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolyti...	OMIM:152700
Renal Failure, Progressive, With Hypertension	Microscopic hematuria, Nephritis, Proteinuria, Elevated circulating creatinine concentration, Sta...	OMIM:161900
Immunodeficiency 12	Cheilitis, Absent isohemagglutinin level, Recurrent lower respiratory tract infections, Recurrent...	OMIM:615468
Angiostrongyliasis	Increased circulating IgG level, Increased circulating IgA level, Gastrointestinal eosinophilia, ...	ORPHA:74
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
Dominant Beta-Thalassemia	Splenomegaly, Decreased mean corpuscular volume, Chronic infection, Adrenal insufficiency, Jaundi...	ORPHA:231226
Dyskeratosis Congenita, Digenic	Nail dystrophy, Anemia, Decreased testicular size, Decreased circulating IgG level, Sparse eyelas...	OMIM:620040
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti-CD3, B ly...	ORPHA:221139
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Increased circulating IgG level, Increased circulating IgA level, Paratracheal lymphadeno...	OMIM:615934
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Pancreatitis, Increased serum bile acid concentration, Intrahepatic cholestasis wit...	OMIM:243300
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Lymphatic Filariasis	Abnormality of the kidney, Hematuria, Lymphadenopathy, Circulating immune complexes, Urethral obs...	ORPHA:2035
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Increased circulating interleukin 6 concentration, Congenital hyd...	OMIM:620376
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal hair quantity, Decreased circulating antibody level, Lymphopenia	ORPHA:1116
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Pulmonary hemorrhage, Intra...	OMIM:222700
Pseudomyxoma Peritonei	Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Immunodeficiency, Common Variable, 10	Decreased response to growth hormone stimulation test, Recurrent otitis media, Recurrent oral her...	OMIM:615577
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, E...	OMIM:124000
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnor...	ORPHA:54251
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Skin rash, Increased circ...	ORPHA:50918
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Decreased glucosephosphate isomerase leve...	OMIM:613470
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pancreatitis, Inguinal hernia, Hyperhomocystinemia, Homocystinuria, Dental crowding, Reduced cyst...	OMIM:236200
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Familial Adenomatous Polyposis	Lipoma, Eruption failure, Odontoma, Pituitary adenoma, Neoplasm of the gastrointestinal tract, De...	ORPHA:733
Trimethylaminuria	Trimethylaminuria, Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Hypocalciuric Hypercalcemia, Familial, Type Ii	Peptic ulcer, Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased re...	OMIM:145981
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Hematuria, De...	ORPHA:1855
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased re...	OMIM:600740
C1Q Deficiency 2	Sepsis, Pneumocystis carinii pneumonia, Recurrent otitis media, Recurrent lower respiratory tract...	OMIM:620321
Gaucher Disease	Decreased HDL cholesterol concentration, Increased circulating antibody level, Leukopenia, Spleno...	ORPHA:355
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Sepsis, Recurrent lower respiratory tract infections, Recurrent apht...	OMIM:614868
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Recurrent infection...	OMIM:614493
Smith-Kingsmore Syndrome	Cryptorchidism, Thrombocytopenia, Decreased circulating IgA level, Curly hair	OMIM:616638
Crimean-Congo Hemorrhagic Fever	Hematemesis, Increased circulating lactate dehydrogenase concentration, Hyperhidrosis, Leukopenia...	ORPHA:99827
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Xerostomia, Skin rash, Posterior uve...	ORPHA:90340
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Chronic otitis media, Sepsis, Pneumonia, Hepatomegaly, Lymphadenopathy, ...	ORPHA:169090
Riddle Syndrome	Decreased circulating total IgM, Generalized lymphadenopathy, Decreased circulating IgG level, De...	ORPHA:420741
Acute Lung Injury	Abnormal circulating cytokine concentration, Sepsis, Abnormal pulmonary interstitial morphology, ...	ORPHA:178320
Yellow Fever	Hematemesis, Acute kidney injury, Jaundice, Increased circulating interleukin 6 concentration, Hy...	ORPHA:99829
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent vulvovaginal candidiasis, O...	OMIM:614162
Glycogen Storage Disease Vii	Jaundice, Exercise-induced myoglobinuria, Hematuria, Cholelithiasis, Hyperuricemia, Elevated circ...	OMIM:232800
Atelis Syndrome 1	Long philtrum, Anemia, Recurrent infections, High palate, Eczematoid dermatitis, Hypothyroidism, ...	OMIM:620184
Kawasaki Disease	Cheilitis, Skin rash, Pericarditis, Cholecystitis, Myocarditis, Jaundice, Conjunctivitis, Thrombo...	ORPHA:2331
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Recurrent infections, Increased circulating IgM level, Helicobacte...	ORPHA:2688
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Steatorrhea, Iron deficiency anemia, Chronic mucocutaneous candidiasis, Keratoconjunct...	OMIM:269200
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Gastr...	ORPHA:79301
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Panniculitis, Increased circulating antibody level, Elevated ...	OMIM:617591
Prolidase Deficiency	Hepatomegaly, Anemia, Increased circulating antibody level, Facial hirsutism, Recurrent infection...	OMIM:170100
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Hyperlipidemia, Portal hypertensi...	ORPHA:1414
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Brucellosis	Bronchitis, Granuloma, Pericarditis, Intrarenal abscess, Hyperhidrosis, Leukopenia, Splenomegaly,...	ORPHA:1304
Wilson Disease	Portal fibrosis, Acute hepatic failure, Splenomegaly, Dysphagia, High nonceruloplasmin-bound seru...	OMIM:277900
Trichohepatoenteric Syndrome 2	Trichorrhexis nodosa, Cirrhosis, Hepatomegaly, Villous atrophy, Brittle hair, Uncombable hair, Wo...	OMIM:614602
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Peripheral Primitive Neuroectodermal Tumor	Jaundice, Pancreatitis, Neoplasm of the pancreas, Ovarian neoplasm, Anemia, Increased circulating...	ORPHA:370348
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Immunodeficiency 17	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Abnormal B cell mo...	OMIM:615607
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Recurrent infections, Thyroiditis, Increased circulating IgE level, Eczematoid dermatitis, Celiac...	OMIM:618985
Hyper-Igd Syndrome	Lymphadenopathy, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Increased circulat...	OMIM:260920
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla...	OMIM:616084
Shigellosis	Cholestasis, Abnormal blood ion concentration, Paralytic ileus, Myocarditis, Acute kidney injury,...	ORPHA:810
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Congenital Disorder Of Glycosylation, Type Iih	Interface hepatitis, Elevated circulating creatine kinase concentration, Elevated serum transamin...	OMIM:611182
Adult Acute Respiratory Distress Syndrome	Pulmonary edema, Sepsis, Increased circulating interleukin 6 concentration, Pancreatitis, Abnorma...	ORPHA:70578
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Reduced circulating transferrin concentration, Intestinal bleeding, Lymph...	ORPHA:90363
Epilepsy-Telangiectasia Syndrome	Decreased circulating antibody level, Decreased circulating IgA level	ORPHA:1951
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Cholelithiasis, Eczematoid dermatitis, Abnormal circulating ...	ORPHA:79278
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Incontinentia Pigmenti	Orofacial cleft, Delayed eruption of teeth, Abnormal hair morphology, Abnormal dental enamel morp...	ORPHA:464
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Pancre...	ORPHA:247585
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Steatorrhea, Elevated circulating hepatic transaminase concentration, Abnormal immunoglobulin lev...	OMIM:618752
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Decreased circulating carnitine concentration, Renal tubular acidosis, Decreased ac...	ORPHA:431361
Iga Nephropathy, Susceptibility To, 2	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:613944
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Chronic active Eps...	ORPHA:158048
Brooke-Spiegler Syndrome	Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo...	ORPHA:79493
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Ureteral duplication, Anemia, Meckel diverticulum, Seborrheic dermatitis, Decr...	OMIM:274000
Immunodeficiency 116	Recurrent viral infections, Bronchiectasis, Recurrent respiratory infections, Absence of CD8-posi...	OMIM:608957
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased intramuscular fat, Hepat...	OMIM:151660
Microscopic Polyangiitis	Gastrointestinal infarctions, Glomerulopathy, Gastrointestinal hemorrhage, Pancreatitis, Hematuri...	ORPHA:727
Macrocephaly/Autism Syndrome	Hepatomegaly, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Hydrocele testis	OMIM:605309
Multiple Myeloma	Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea...	ORPHA:29073
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transa...	OMIM:214950
Beta-Thalassemia Intermedia	Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, De...	ORPHA:231222
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Hepatic steatosis, Splenomegaly, Decreased circulating IgA level	OMIM:613327
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Jaundice, Reduced haptoglobin level, Cholelithiasis, Chronic hemolytic anemia, Redu...	OMIM:266200
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Defective T cell proliferation, Anoperineal fistula, Increased circulating IgG ...	OMIM:618213
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia	ORPHA:858
Wiskott-Aldrich Syndrome	Chronic otitis media, Hematemesis, Abnormal platelet function, Sinusitis, Abnormal platelet morph...	ORPHA:906
Hemochromatosis, Type 3	Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Arthritis, Increased ...	OMIM:604250
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Generalized lipodystro...	ORPHA:79086
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec...	OMIM:308220
Protoporphyria, Erythropoietic, X-Linked	Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con...	OMIM:300752
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Idiopathic Achalasia	Gastroesophageal reflux, Bronchitis, Decreased circulating prealbumin concentration, Recurrent as...	ORPHA:930
Mucopolysaccharidosis Type 7	Inguinal hernia, Mucopolysacchariduria, Splenomegaly, Abnormal pleura morphology, Umbilical herni...	ORPHA:584
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemia, Hyperuri...	ORPHA:20
Congenital Disorder Of Glycosylation, Type It	Recurrent otitis media, Elevated circulating hepatic transaminase concentration, Intrahepatic cho...	OMIM:614921
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Cholelithiasis, Eczematoid dermatitis, Hemolytic anemia, Hepatic failure	OMIM:177000
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Glutaric aciduria, Hepatomegaly, Elevated circulating hepatic transamin...	ORPHA:26791
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Long eyelashes, Pustule, Recurrent pneumonia, Recurrent bronchio...	OMIM:616069
Hermansky-Pudlak Syndrome 2	Recurrent abscess formation, Absent platelet dense granules, Impaired ADP-induced platelet aggreg...	OMIM:608233
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Abnormal circulating enzyme concentration or activity, Vacuolated lym...	ORPHA:565612
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Decreased glomerular filtration rate, Hematuria, Hyperuricemi...	OMIM:232240
Wells Syndrome	Eosinophilia, Cellulitis	ORPHA:901
Listeriosis	Pericarditis, Pustule, Unusual CNS infection, Cholecystitis, Granulomatosis, Myocarditis, Acute k...	ORPHA:533
Hyperparathyroidism-Jaw Tumor Syndrome	Peptic ulcer, Pancreatitis, Lipoma, Testicular neoplasm, Hypercalciuria, Renal hamartoma, Nephrol...	ORPHA:99880
Immunodeficiency 58	Chronic otitis media, Seborrheic dermatitis, Molluscum contagiosum, Onychomycosis, Decreased spec...	OMIM:618131
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Panhypogammaglobulinemia, Rectal absces...	OMIM:601495
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Anemia of inadequa...	OMIM:224100
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Lead Poisoning	Abnormal T cell morphology, Decreased HDL cholesterol concentration, Anemia, Delayed eruption of ...	ORPHA:330015
Parathyroid Carcinoma	Peptic ulcer, Parathyroid carcinoma, Pancreatitis, Lipoma, Testicular neoplasm, Hypercalciuria, R...	ORPHA:143
Behçet Disease	Gastrointestinal hemorrhage, Optic neuritis, Pericarditis, Splenomegaly, Recurrent aphthous stoma...	ORPHA:117
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch...	ORPHA:209902
Pauci-Immune Glomerulonephritis	Acute kidney injury, Abnormality of the pulmonary vasculature, Abnormality of the gastrointestina...	ORPHA:93126
Microlissencephaly	Pneumonia	ORPHA:1083
Lichen Planopilaris	Neoplasm of the oral cavity, Abnormal intestine morphology, Hepatitis, Alopecia	ORPHA:525
Myasthenia Gravis	Myositis, Rheumatoid arthritis, Hashimoto thyroiditis, Pure red cell aplasia, Primary adrenal ins...	ORPHA:589
Isolated Congenital Hypoglossia/Aglossia	Cleft palate, Aspiration pneumonia, Microglossia	ORPHA:141152
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Hepatic steatosis, Cirrhosis, Elevated circulating hepatic transaminase con...	OMIM:269700
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Staphylococcus aureus infections, Discoid lupus rash, Recurrent bacterial skin infectio...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Staphylococcus aureus infections, Discoid lupus rash, Recurrent bacterial skin infectio...	OMIM:233710
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Intestinal obstruction, Decreased HDL cholesterol concentration, Gastro...	ORPHA:85450
Netherton Syndrome	Trichorrhexis nodosa, Emphysema, Ectopic kidney, Abnormal hair morphology, Recurrent infections, ...	ORPHA:634
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Perianal abscess, Jaundice, Increased circulating chylomicron concentration...	ORPHA:444490
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia	OMIM:620133
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating hepatic transaminase concentration, Skin rash, Aphthous ulcer, Bone marrow h...	OMIM:615688
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Sepsis, Elevated circulating C-reactive protein concentrati...	ORPHA:36238
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pancreas, Abn...	ORPHA:83469
Pneumocystosis	Chronic oral candidiasis, Increased circulating antibody level, Abnormal neutrophil count, Acute ...	ORPHA:723
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Mirage Syndrome	Hyperkalemia, Sepsis, Anemia, Hypospadias, Gastroesophageal reflux, Recurrent urinary tract infec...	OMIM:617053
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Staphylococcus aureus infections, Discoid lupus rash, Recurrent bacterial skin infectio...	OMIM:233690
Sickle Cell Anemia	Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Recurrent infections,...	ORPHA:232
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Hyperornithinemia, Acute hepatitis, Hyperammonemia, Homoc...	OMIM:238970
Bloom Syndrome	Decreased circulating IgA level, Decreased circulating IgG level, Elevated hemoglobin A1c, Hypert...	OMIM:210900
Inflammatory Pseudotumor Of The Liver	Cirrhosis, Increased hepatitis B virus antibody level, Elevated circulating alanine aminotransfer...	ORPHA:90003
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating interleukin 6 concentration, Leukocy...	ORPHA:457077
Loeffler Endocarditis	Eosinophilia, Pericarditis	ORPHA:75566
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased response to growth hormo...	OMIM:203800
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Recurrent infections, Decreased proportion of CD4-positive T cells, Bronchiectasis	ORPHA:477814
Scedosporiosis	Abnormal renal morphology, Bronchitis, Sinusitis, Pericarditis, Unusual CNS infection, Fungal men...	ORPHA:449280
Immunodeficiency 59 And Hypoglycemia	Sepsis, Hepatomegaly, High anterior hairline, Recurrent lower respiratory tract infections, Recur...	OMIM:233600
Chronic Mucocutaneous Candidiasis	Cheilitis, Hematuria, Recurrent infections, Recurrent urinary tract infections, Abnormal dental e...	ORPHA:1334
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating antibody level, Hepatomegaly, Decreased circulating IgA level, Long eyelashes	OMIM:606056
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Pancreatitis, Hypothyroidism, Dysphagia, Iridocyclitis, Alopecia	ORPHA:412057
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Neonatal sepsis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Inguinal h...	OMIM:612541
Benign Schwannoma	Abnormality of the liver, Abnormal parotid gland morphology, Intestinal polyposis, Abnormal esoph...	ORPHA:252164
Retinitis Pigmentosa 89	Intrahepatic bile duct dilatation, Esophageal varix, Hepatosplenomegaly, Micronodular cirrhosis, ...	OMIM:618955
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Iga Nephropathy, Susceptibility To, 1	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:161950
Maple Syrup Urine Disease, Type Ia	Increased level of hippuric acid in urine, Pancreatitis, Elevated circulating branched chain amin...	OMIM:248600
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Leukocyte Adhesion Deficiency	Perianal abscess, Nail dystrophy, Severe periodontitis, Impaired platelet aggregation, Sinusitis,...	ORPHA:2968
Crigler-Najjar Syndrome Type 1	Unconjugated hyperbilirubinemia, Biliary tract abnormality, Prolonged neonatal jaundice, Neonatal...	ORPHA:79234
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Microdontia, Ureterocele, Sparse axillary hair, Sparse hair, Decreased response to growth hormone...	OMIM:129900
Aggressive Systemic Mastocytosis	Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po...	ORPHA:98850
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Hyperhomocystinemia, Recurrent infections, Stomatitis, Skin rash, Elev...	ORPHA:79284
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Aspiration pneumonia	OMIM:609528
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Reduced haptoglobin level, Hepatomegaly, Cholelithiasis, Normochromi...	OMIM:611881
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pneumonia, Cellulitis, Pulmonary h...	ORPHA:238459
Vici Syndrome	Everted upper lip vermilion, T lymphocytopenia, Leukopenia, Dysphagia, Lymphopenia, Long philtrum...	OMIM:242840
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Nail dystrophy, Recurrent sinusitis, Decreased circulating cortisol level, Psoriasiform dermatiti...	ORPHA:293978
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytosis, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Seckel Syndrome 10	Hypertriglyceridemia, Acute pancreatitis, Elevated circulating alanine aminotransferase concentra...	OMIM:617253
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancreati...	OMIM:232200
Complement Factor I Deficiency	Decreased circulating complement C3 concentration, Recurrent otitis media, Decreased circulating ...	OMIM:610984
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Abnormal eosinophil morphology, Emphysema	ORPHA:1164
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Hepatomegaly, Anemia, Recurrent lower respiratory tract infections, Iron ...	OMIM:226300
Rhabdoid Tumor	Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy	ORPHA:69077
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis	OMIM:619290
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Cryptorchidism, Decreased circulating IgG level, Decreased circu...	OMIM:607143
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Alpha-Mannosidosis, Adult Form	Pneumonia, Pancytopenia, Recurrent infections, Hepatosplenomegaly, Recurrent gastroenteritis, Mac...	ORPHA:309288
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cryptorchidism, Decreased circulating IgA level, Curly hair	ORPHA:457485
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Granulomatous Disease, Chronic, X-Linked	Recurrent Staphylococcus aureus infections, Discoid lupus rash, Recurrent bacterial skin infectio...	OMIM:306400
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level, Duodenitis, Blepharitis, Pustule, Erythroderma, Villous atrophy	OMIM:614328
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Premature graying of hair, Cirrhosis, Nail dystrophy, Anemia, Increased mean cor...	OMIM:127550
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level, Alopecia	OMIM:212750
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology, Abnormal pleura morphology	ORPHA:724
Cowden Syndrome 1	Recurrent infections, Thyroiditis, Decreased circulating antibody level, High palate, Furrowed to...	OMIM:158350
Ciliary Dyskinesia, Primary, 25	Recurrent otitis media, Gastroesophageal reflux, Chronic rhinitis, Recurrent pneumonia, Recurrent...	OMIM:615482
Congenital Disorder Of Glycosylation, Type Ia	Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Elevated circulating he...	OMIM:212065
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Muscular Hypertonia, Lethal	Pneumonia, Umbilical hernia	OMIM:254120
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Pancreatitis, Hypocalciuria, Hypercalciuria, Nephrolithiasis, Hypercalcemia, Par...	OMIM:145980
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Nail dystrophy, Microdontia, Ureterocele, Sparse axillary hair, Urethral stenosis, Decreased resp...	OMIM:604292
Lujo Hemorrhagic Fever	Myocarditis, Elevated circulating hepatic transaminase concentration, Atelectasis, Elevated circu...	ORPHA:319213
Trichothiodystrophy 3, Photosensitive	Trichorrhexis nodosa, Brittle hair, Increased circulating IgA level, Tiger tail banding, Bilatera...	OMIM:616395
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati...	OMIM:618549
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement memb...	OMIM:301050
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Hyperlipidemia, Acut...	OMIM:238600
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, Alopecia, Nail dystrophy, T lymphocytopenia	OMIM:601705
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Sepsis, Normocytic anemia, Elevated circulating alkaline phosphatase concentration, Gastrointesti...	ORPHA:247691
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Pancreatitis, Atelectasis, Splenic cyst, Highly arched eyebrow, High palate, Evert...	OMIM:620371
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Decreased liver function, Elevated circulating hepatic transaminase concent...	ORPHA:167
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration, Abnormality...	ORPHA:31
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Lambert Syndrome	Intrahepatic biliary atresia, Jaundice, Cholestasis, Decreased circulating antibody level	ORPHA:1296
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Ovarian cyst, Primary hypercortisolism, Increased circulating cortisol level	OMIM:610475
Neurofibroma	Recurrent otitis media, Abnormal biliary tract morphology, Neoplasm of the trachea, Multiple inte...	ORPHA:252183
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Dubin-Johnson Syndrome	Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia	OMIM:237500
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Increased circulating lactat...	ORPHA:3202
Rigid Spine Syndrome	Pneumonia, Hip contracture, Elbow flexion contracture, Hamstring contractures	ORPHA:97244
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Keloids, Oligozoospermia, Nephritis, Renal dysplasia, Cryptorchidism, P...	OMIM:314300
Senior-Boichis Syndrome	Elevated circulating hepatic transaminase concentration, Tubular luminal dilatation, Cholestasis,...	ORPHA:84081
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Periodontitis, Recurrent infections, Lymphadeno...	OMIM:214500
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Skin rash, Pleural ...	ORPHA:509
Poikiloderma With Neutropenia	Nail dystrophy, Recurrent otitis media, Skin rash, Elevated circulating creatine kinase concentra...	OMIM:604173
Digeorge Syndrome	Seborrheic dermatitis, Recurrent sinusitis, Ovarian cyst, Splenomegaly, Bifid uvula, Umbilical he...	OMIM:188400
Bone Marrow Failure Syndrome 5	Nail dystrophy, Anemia, Erythroid hypoplasia, Decreased circulating antibody level, Pure red cell...	OMIM:618165
Icf Syndrome	Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Lymphopenia	ORPHA:2268
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Wolcott-Rallison Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Iron deficiency ...	ORPHA:1667
Pancreatic Colipase Deficiency	Steatorrhea, Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Fat malabso...	ORPHA:309108
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Anemia, Pelvic kidney, Vesicoureteral refl...	OMIM:603467
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Hypoplasia of penis, Abnormality of the philtrum, Increased circulati...	ORPHA:3409
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Abnormal natural kil...	OMIM:615966
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Recurrent tonsillitis, Cholelithiasis, Atopic dermatitis, Glucocortocoid-insensitiv...	ORPHA:171876
Sepsis In Premature Infants	Decreased liver function, Neonatal sepsis, Increased circulating interleukin 6 concentration, Jau...	ORPHA:90051
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Skin rash, Tracheoesophageal fistula, Neutropenia, Pancytopenia, Cystathioninuria, Megaloblastic ...	OMIM:277380
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Aspiration pneumonia, Hyperammonemia, Dysphagia, Sparse hair, Bronchiectasis, Neutro...	OMIM:618253
Progeria-Short Stature-Pigmented Nevi Syndrome	Fragile teeth, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentration,...	ORPHA:2959
Melas	Hypoparathyroidism, Anemia, Intestinal pseudo-obstruction, Proximal tubulopathy, Focal segmental ...	ORPHA:550
Syndromic Diarrhea	Panhypogammaglobulinemia, Splenomegaly, Lymphopenia, Inguinal hernia, Brittle hair, Polycystic ki...	ORPHA:84064
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro...	OMIM:610717
Nijmegen Breakage Syndrome-Like Disorder	Decreased circulating antibody level	OMIM:613078
Porphyria, Congenital Erythropoietic	Erythrodontia, Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Increased fecal coproporphyrin ...	OMIM:263700
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Panhypogammaglobulinemia, Pancytopenia	ORPHA:251009
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Premature graying of hair, Nail dystrophy, Pancytopenia, Abnormality of the dent...	OMIM:613989
Peutz-Jeghers Syndrome	Rectal prolapse, Neoplasm of the pancreas, Oral melanotic macule, Iron deficiency anemia, Gastroi...	OMIM:175200
Dystrophic Epidermolysis Bullosa Pruriginosa	Scarring, Increased circulating IgE level, Nail dystrophy, Atrophic scars	ORPHA:89843
Myotonic Dystrophy 2	Decreased circulating total IgM, Elevated circulating follicle stimulating hormone level, Frontal...	OMIM:602668
Sialuria	High, narrow palate, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:3166
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Increased circulating interleukin...	ORPHA:160
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Chronic kidney disease, Hyperuricemia, Recurrent infections, Renal cyst, Focal segmental ...	OMIM:617056
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Recurrent otitis media, Hepatomegaly, Recurrent lower...	OMIM:620233
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level, Hypertrichosis, Synophrys	ORPHA:85317
Congenital Isolated Acth Deficiency	Hyponatremia, Prolonged neonatal jaundice, Decreased circulating cortisol level, Adrenocorticotro...	ORPHA:199296
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Premature graying of hair, Decreased HDL cholesterol concentration, Flexion...	OMIM:256040
Pancreatitis, Hereditary	Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Pleural effusion, Exocrine pancreatic insuffici...	OMIM:167800
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, Recurrent otitis media, Anal stenosis, Recurre...	OMIM:251260
Neutropenia, Severe Congenital, X-Linked	Eczematoid dermatitis, Monocytopenia, Decreased CD4:CD8 ratio, Recurrent bacterial infections, Ne...	OMIM:300299
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Prolonged neonatal...	OMIM:257200
Familial Hypocalciuric Hypercalcemia	Peptic ulcer, Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Lipoma, Hypocalciuria, Hypoma...	ORPHA:405
Hypotrichosis Simplex Of The Scalp	Slow-growing scalp hair, Alopecia of scalp, Increased circulating IgE level, Sparse scalp hair, A...	ORPHA:90368
H Syndrome	Hypertriglyceridemia, Enlarged kidney, Abnormal eyebrow morphology, Psoriasiform dermatitis, Hern...	ORPHA:168569
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Pleural effusion, Reticu...	ORPHA:846
Hyperbiliverdinemia	Decreased liver function, Green urine, Cholelithiasis, Cholestasis, Elevated circulating biliverd...	OMIM:614156
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropen...	ORPHA:398124
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Relapsing Polychondritis	Myocarditis, Glomerulopathy, Hematuria, Recurrent aphthous stomatitis, Anteriorly placed anus, In...	ORPHA:728
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopat...	OMIM:612387
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Decreased glomerular filtra...	ORPHA:340
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Chronic bronchitis, Polysplenia, Recu...	OMIM:613807
Bronchogenic Cyst	Bronchogenic cyst, Abnormal stomach morphology, Atelectasis, Abnormal peritoneum morphology, Abno...	ORPHA:2357
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Dysphagia, Abnormality of the urinary system, Elevated circulating creatine kinase concentration,...	ORPHA:90117
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Nephronophthisi...	OMIM:216360
Visceral Myopathy 1	Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pancreatitis, Intestinal ...	OMIM:155310
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt...	ORPHA:508542
Plasminogen Deficiency, Type I	Duodenal ulcer, Periodontitis, Gingival overgrowth, Gingivitis, Decreased level of plasminogen, N...	OMIM:217090
Dubowitz Syndrome	Aplastic anemia, Sparse scalp hair, Sparse lateral eyebrow, Decreased circulating IgG level, Acut...	OMIM:223370
Viss Syndrome	Pulmonary artery aneurysm, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Dysph...	OMIM:619472
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Highly arched eyebrow, Abnormal renal morphology...	OMIM:122470
Lacrimoauriculodentodigital Syndrome	Orofacial cleft, Abnormal salivary gland morphology, Lacrimal gland aplasia, Abnormal dental enam...	ORPHA:2363
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Nephritis, Renal tubular atroph...	OMIM:162000
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Persistence of ...	OMIM:618849
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Anemia, Leukopenia, Hepa...	OMIM:603553
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicular siz...	ORPHA:66628
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Bone Marrow Failure Syndrome 3	Aplastic anemia, Nail dystrophy, Hyperechogenic pancreas, Microdontia, Bone marrow hypocellularit...	OMIM:617052
Ciliary Dyskinesia, Primary, 9	Chronic otitis media, Absent outer dynein arms, Pneumonia, Recurrent otitis media, Chronic rhinit...	OMIM:612444
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Aplasia of the eccrine sweat glands, Increased circulating IgA level, Abnor...	OMIM:300291
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Elevated circulating hepatic transaminase concentrati...	ORPHA:64
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypoplasia of the ovary, Pituitary hypothyroidism, Decreased testicular siz...	ORPHA:179494
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgD level,...	OMIM:610377
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopen...	OMIM:619644
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Cervical lymph...	ORPHA:514
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pn...	OMIM:620296
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Peroxisome Biogenesis Disorder 2A (Zellweger)	Jaundice, Hepatomegaly, Intrahepatic biliary dysgenesis, Polycystic kidney dysplasia, Elevated ci...	OMIM:214110
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, T lymphocytopenia	DECIPHER:16
Acute Disseminated Encephalomyelitis	Severe Epstein Barr virus infection, Myelitis, Herpes simplex encephalitis, Severe parainfluenza ...	ORPHA:83597
Complement Factor B Deficiency	Recurrent meningococcal disease, Decreased circulating complement factor B concentration, Periton...	OMIM:615561
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level, Abnormality of the dentition, Dental malocclusion	ORPHA:1858
Nocardiosis	Pericarditis, Unusual CNS infection, Cellulitis, Thyroiditis, Conjunctivitis, Pneumonia, Scleriti...	ORPHA:31204
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Reynolds Syndrome	Calcinosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Stea...	OMIM:613471
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Meckel diverticulum, Hyperbilirubinemia, Pancreatic hypoplasia...	OMIM:615710
Scrub Typhus	Lymphadenopathy, Splenomegaly	ORPHA:83317
Occipital Horn Syndrome	Scarring, High, narrow palate, Jaundice, Abnormal esophagus physiology, Coarse hair, Inguinal her...	ORPHA:198
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent otitis media, Lymphadenopathy, Juvenile rheumatoid arthritis, Tubulointerstitial fibros...	OMIM:607944
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Complex organic aciduria, P...	OMIM:557000
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Hypoplasia of penis, Wide mouth, Splenomeg...	ORPHA:373
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Transient hypogammaglobulinemia of infancy	OMIM:251240
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Inguinal hernia, Renal hypoplasia, Proteinuri...	OMIM:614376
Primary Ciliary Dyskinesia	Chronic otitis media, Recurrent otitis media, Atelectasis, Pulmonary situs ambiguus, Chronic rhin...	ORPHA:244
Alport Syndrome	Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi...	ORPHA:63
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Recurrent candida infections, Hepatomegaly, Alopecia of scalp, Impaired T cell function, Decrease...	OMIM:201100
Degcags Syndrome	Premature graying of hair, Cholestasis, Abnormal spleen morphology, Low posterior hairline, Abnor...	OMIM:619488
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, High palate, Furrowed tongue, Patchy alopecia, Decreased testicular size, Thick e...	OMIM:300534
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Eosinophilic infiltration of the esophagus, Hypernatremia, Recur...	OMIM:615508
Dysbetalipoproteinemia	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Renal steatosis, Inc...	ORPHA:412
Bardet-Biedl Syndrome 20	Elevated circulating hepatic transaminase concentration, Pancreatitis, Hypercholesterolemia, Bila...	OMIM:619471
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul...	OMIM:242900
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Reduced haptoglobin level, Anemia, Short philtrum, Hemolytic-uremic syndrome, Recurrent infection...	OMIM:301110
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Nail dystrophy, Thickened glomerular basement membrane, Glomerular basement membrane disruption, ...	OMIM:609057
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level	OMIM:615872
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Gastroesophageal reflux, Enuresis nocturna, Vesico...	OMIM:301111
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Absent outer dynein arms, Atelectasis, Recurrent bronchitis, Chronic rhinit...	OMIM:244400
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Abnormal gastric mucosa morphology, Biliary tract abnormality, Conjugated...	ORPHA:234
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro...	ORPHA:98908
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Lathosterolosis	Bilobate gallbladder, Anisopoikilocytosis, Intrahepatic cholestasis, Elevated circulating alkalin...	OMIM:607330
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Myositis, Elevated circulating creatine kinase concentration, Biliary atresia	ORPHA:565899
Peroxisome Biogenesis Disorder 12A (Zellweger)	Sepsis, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Renal tubular dy...	OMIM:614886
Nephronophthisis 18	Nephronophthisis, Portal fibrosis, Cholestasis, Thickened glomerular basement membrane, Renal tub...	OMIM:615862
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholelithiasis, Normochromic anemia, Macro...	OMIM:615512
Cushing Disease	Decreased eosinophil count, Increased circulating cortisol level, Intra-oral hyperpigmentation, H...	ORPHA:96253
Grfoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, ...	ORPHA:97261
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections, High palate	ORPHA:596
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Low anterior hairline...	OMIM:248500
Hennekam Syndrome	Ectopic kidney, Tooth agenesis, Splenomegaly, Sparse axillary hair, Lymphopenia, Short philtrum, ...	ORPHA:2136
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Anemia, Inguinal hernia, Agammaglobulinemia, White hair, Lymphopenia, Recu...	ORPHA:935
Congenital Multicore Myopathy With External Ophthalmoplegia	High palate, Flexion contracture, Increased connective tissue, Tented upper lip vermilion, Pneumo...	ORPHA:98905
Gm1 Gangliosidosis	Inguinal hernia, Gastroesophageal reflux, Gingival overgrowth, Hirsutism, Narrow mouth, Aspiratio...	ORPHA:354
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Impaired T cell function, Abnormality of the ureter, Orotic acid crystall...	ORPHA:30
Cirrhosis, Familial	Cirrhosis, Jaundice, Increased level of propylene glycol in blood, Fulminant hepatitis, Esophagea...	OMIM:215600
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a...	OMIM:613159
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom...	ORPHA:103918
Neuroleptic Malignant Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Myoglobinuria, Inc...	ORPHA:94093
Acute Liver Failure	Acute kidney injury, Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transami...	ORPHA:90062
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Com...	ORPHA:79324
Monosomy 18Q	Secondary growth hormone deficiency, Decreased circulating IgA level, Low anterior hairline, Bila...	ORPHA:1600
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Inguinal hernia, Microdontia, Biliary tract abnormality...	ORPHA:3191
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Yellow Nail Syndrome	Renal neoplasm, Yellow nails, Pleuritis, Neoplasm of the lung, Sinusitis, Rhinitis, Biliary tract...	ORPHA:662
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia, ...	OMIM:605479
22Q11.2 Deletion Syndrome	Chronic otitis media, Gastrointestinal hemorrhage, Anorectal anomaly, Seborrheic dermatitis, Inte...	ORPHA:567
Ppoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intrahepatic chole...	ORPHA:97278
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis, Cryptorchidism	ORPHA:99812
Hypocomplementemic Urticarial Vasculitis	Lymphadenopathy, Hepatomegaly, Splenomegaly, Reduced circulating complement concentration	ORPHA:36412
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Cryoglobulinemia, Splenomegaly, Monoclonal immu...	ORPHA:33226
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Intestinal hypoplasia, Pancreatic h...	OMIM:601346
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Mild proteinuria, Glom...	OMIM:614377
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Decreased adipose tissue around neck, Polyuria, Loss of subcutaneous adipos...	OMIM:606721
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Decreased circulating antibody level, Sparse body hair, Sparse hair,...	ORPHA:1006
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM, Annular pancreas	OMIM:618162
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia, Gastroesophageal reflux	OMIM:619971
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Orofacial cleft, Hypospadias, Non-midline cleft of the upper lip...	ORPHA:1335
Familial Pancreatic Carcinoma	Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie...	ORPHA:1333
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Elevated circulating hepatic transaminase concentration, Hematuria, Increased b...	OMIM:614817
Cryptococcosis	Sepsis, Prostatitis, Cirrhosis, Mediastinal lymphadenopathy, Lymphoid leukemia, Pleural effusion,...	ORPHA:1546
Nail-Patella Syndrome	Abnormality of the kidney, High anterior hairline, Hematuria, Abnormal gastrointestinal tract mor...	ORPHA:2614
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level, Hypoparathyroidism	ORPHA:369837
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Contracture of the proximal interphalangeal joint of the 4th finger, Decreased res...	OMIM:618223
Distal Duplication 5Q	Thin vermilion border, Hypospadias, Narrow mouth, Eczematoid dermatitis, Carious teeth, Hernia, L...	ORPHA:96097
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marro...	ORPHA:699
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Aganglionic megacolon, Tracheoesophageal fistula, Asplenia, Intestinal malrotat...	ORPHA:210122
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Renal tubular epithelial necrosis, Nail dystrophy, Elevated circulating hepatic transaminase conc...	ORPHA:95455
Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Decreased circulating antibody level, Synophrys, Decreased circulating IgG...	OMIM:617062
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Widely spaced teeth, Delayed eruption of teeth, Seborrheic dermatitis, Gingival ove...	OMIM:301072
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Nail dystrophy, Ureterocele, Abnormal blood ion concentration,...	ORPHA:79404
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Hyperornithinemia, Abnormal circulating citrulline concen...	ORPHA:415
16P12.1P12.3 Triplication Syndrome	Long philtrum, Decreased response to growth hormone stimulation test, Thin vermilion border, High...	ORPHA:485405
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Recurrent otitis media, Hepatomegaly, Cholelithiasis, Everted lower lip vermilion, Synophrys, Cle...	OMIM:301066
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Cholelithiasis, Elevated circulating creatine kinase concentration, Thromboc...	OMIM:618775
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Dysphagia, Abnormal circulating enzyme concentration or activity	ORPHA:2590
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Increased circulating antibody level, Polycythemia, Splenomegaly, ...	ORPHA:2905
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ...	ORPHA:60033
Thymoma	Aplastic anemia, Abnormal lymphocyte physiology, Decreased circulating antibody level, Pure red c...	ORPHA:99867
Dermatomyositis	Elevated circulating hepatic transaminase concentration, Skin rash, Gastrointestinal stroma tumor...	ORPHA:221
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Hypospadias, Cholelithiasis, Inguinal hernia, Short philtrum, Exaggerated cu...	ORPHA:464738
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Premature graying of hair, Gastrointestinal hemorrhage, Abnormal pulmonary inter...	OMIM:613990
Lynch Syndrome	Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the pancreas, Ovarian neoplasm, Intestinal...	ORPHA:144
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Atrichia, Decreased testicular size, Congenital abnormal hair pattern, Pneumonia,...	ORPHA:1867
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the stomach, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Small cell lu...	ORPHA:99889
Senior-Loken Syndrome 9	Nephronophthisis, Cholestasis, Hepatic fibrosis, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:616629
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Urinary glycosaminoglycan excretion, Gingival o...	ORPHA:79255
Fanconi Anemia, Complementation Group Q	Bone marrow hypocellularity, Anteriorly placed anus, Esophageal atresia, Biliary atresia	OMIM:615272
Letterer-Siwe Disease	Jaundice, Anemia, Stomatitis, Seborrheic dermatitis, Hepatosplenomegaly, Thrombocytopenia, Neutro...	OMIM:246400
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypocalcemia, Hy...	ORPHA:26793
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Thick hair, Vesicoureteral reflux, Aspiration pneum...	OMIM:616368
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Recurrent infections, Microvesicular hepatic steatosis, Lipodystrophy	OMIM:619273
Acute Interstitial Pneumonia	Reduced hematocrit, Atelectasis, Lymphadenopathy, Elevated circulating C-reactive protein concent...	ORPHA:79126
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Azotemia, Renal insufficiency, Nephrotic syndrome, Microscopic hematuria, Thickened gl...	OMIM:104200
Oculopharyngodistal Myopathy	High, narrow palate, Oral-pharyngeal dysphagia, High palate, Impaired oropharyngeal swallow respo...	ORPHA:98897
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Immunodeficiency 77	Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Bronchiectasis, Cellulit...	OMIM:619223
Myotonic Dystrophy 1	Frontal balding, Dysphagia, Testicular atrophy, Cholelithiasis	OMIM:160900
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet aggregation, Decrea...	ORPHA:79329
Velocardiofacial Syndrome	Hypoparathyroidism, Inguinal hernia, Recurrent infections, Hypocalcemia, Pulmonary artery atresia...	OMIM:192430
Shwachman-Diamond Syndrome 1	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute myeloid...	OMIM:260400
Hemophagocytic Lymphohistiocytosis, Familial, 1	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Anemia, Leukopenia, Splenomegaly, Thro...	OMIM:267700
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of connective tissue, Ski...	ORPHA:79128
Hennekam-Beemer Syndrome	Thick lower lip vermilion, High palate, Mastocytosis, Camptodactyly of finger, Pneumonia	ORPHA:2135
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Reduced leukocyte arylsulfatase B activity, Inguinal hernia, Delayed eruption of te...	OMIM:253200
Posterior Urethral Valve	Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no...	ORPHA:93110
Timothy Syndrome	Recurrent infections, Hypocalcemia, Bronchitis, Microdontia, Hypothyroidism, Pneumonia, Thin uppe...	OMIM:601005
Alport Syndrome 2, Autosomal Recessive	Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St...	OMIM:203780
Cat Eye Syndrome	Rectal fistula, Anal stenosis, Biliary atresia, Meckel diverticulum, Vesicoureteral reflux, Total...	OMIM:115470
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Gastroesophageal reflux, Bronchiolitis, Recurrent aspiration pneumonia, Spl...	OMIM:230900
Bronchial Neuroendocrine Tumor	Abnormal pulmonary interstitial morphology, Hepatomegaly, Chronic noninfectious lymphadenopathy, ...	ORPHA:97287
Tempi Syndrome	Increased circulating IgG level, Polycythemia, Increased hematocrit	ORPHA:284227
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Hyperalaninemia, Elevated circulating alanine aminotransferase concentration, Eleva...	OMIM:614582
Metachromatic Leukodystrophy	Abnormal stomach morphology, Urinary incontinence, Abnormal circulating enzyme concentration or a...	ORPHA:512
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Recurrent infections, Oral ulcer, Joint co...	OMIM:620443
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Multiple bladder diverticula, Emphysema, Inguinal hernia, Recurrent urinary tract i...	ORPHA:90349
Alpha-Mannosidosis, Infantile Form	Pneumonia, Widely spaced teeth, Pancytopenia, Recurrent infections, Recurrent urinary tract infec...	ORPHA:309282
Combined Oxidative Phosphorylation Deficiency 51	Aspiration pneumonia	OMIM:619057
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice...	ORPHA:100086
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Orofaciodigital Syndrome Viii	High palate, Recurrent aspiration pneumonia, Cleft palate, Median cleft upper lip	OMIM:300484
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hyperechogenic pancreas, Hepatomegaly, Steatorrhea, Recurrent infections, High...	OMIM:617941
Mucopolysaccharidosis Type 3	Chronic otitis media, Splenomegaly, Dysphagia, Umbilical hernia, Inguinal hernia, Recurrent tonsi...	ORPHA:581
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Knee flexion contracture, Rectovaginal fistula, Inflammation of the large intestine, Interstitial...	OMIM:619708
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cholestasis, Increased circulating lactate dehydrogenase concentration, Renal cortical microcysts...	OMIM:614866
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Lymphadenitis, Leukocytosis, Splenomegaly, He...	OMIM:615895
Zika Virus Disease	Increased circulating IgM level, Thrombocytopenia	ORPHA:448237
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Acute Radiation Syndrome	Thrombocytopenia, Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Gr...	ORPHA:454831
Pyruvate Dehydrogenase E1-Alpha Deficiency	Gastroesophageal reflux, Recurrent infections, Abnormal medullary pyramid morphology, Increased s...	ORPHA:79243
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatic steatosis, Hepatomegaly, High, narrow palate, Renal tubular epithelial necrosis, Cystic r...	ORPHA:228308
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Multiple glomerular cysts, Abnormal rena...	OMIM:137920
Scorpion Envenomation	Myocarditis, Acute kidney injury, Pulmonary edema, Increased circulating NT-proBNP concentration,...	ORPHA:466677
8P Inverted Duplication/Deletion Syndrome	Abnormality of dental eruption, High, narrow palate, Frontal balding, Abnormality of the urinary ...	ORPHA:96092
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Ileal atresia, Recurrent infections, Anuria, Fetal megacystis, Renal cortical hyperechogenicity, ...	OMIM:619351
Feingold Syndrome Type 1	Abnormality of the kidney, Gastrointestinal atresia, Esophageal atresia, Vesicoureteral reflux, A...	ORPHA:391641
Cranioectodermal Dysplasia 1	Everted lower lip vermilion, Microdontia, Sparse hair, Anodontia, Stage 5 chronic kidney disease,...	OMIM:218330
Tracheobronchopathia Osteochondroplastica	Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec...	ORPHA:3348
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Hepatomegaly, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc...	OMIM:618278
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal neoplasm, Hematuria, Gastroesophageal reflux, Abnormal gastrointestinal tract morpholo...	ORPHA:1018
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Neonatal sepsis, Jaundice, Adrenal hyperplasia, Hyponatremia, Decreased circulating...	ORPHA:90790
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki...	ORPHA:2237
Carney Triad	Anemia, Pheochromocytoma, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Scalp-Ear-Nipple Syndrome	Multiple lipomas, Unilateral renal agenesis, Breast aplasia, Patchy alopecia, Hypohidrosis, Renal...	OMIM:181270
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Mounier-Kühn Syndrome	Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections	ORPHA:3347
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Urinary incontinence, Abnormal nephron morphology, Ure...	ORPHA:93108
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Dysphagia, Aspiration pneumonia	ORPHA:52368
Ring Chromosome 21 Syndrome	Decreased circulating antibody level	ORPHA:1445
Xanthinuria, Type I	Xanthinuria, Hypouricemia, Reduced circulating xanthine oxidase activity, Reduced xanthine dehydr...	OMIM:278300
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Intraalveolar phospholipid accumulation, Pneumonia, Recurrent respiratory infection...	OMIM:610910
Trichohepatoenteric Syndrome 1	Trichorrhexis nodosa, Cirrhosis, Jaundice, Hepatomegaly, Brittle hair, Decreased circulating anti...	OMIM:222470
Scalp-Ear-Nipple Syndrome	Abnormality of the kidney, Ureteral duplication, Delayed eruption of teeth, Breast aplasia, Recur...	ORPHA:2036
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Combined Oxidative Phosphorylation Deficiency 59	Dicarboxylic aciduria, Hyperalaninemia, Cholelithiasis	OMIM:620646
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Hemolytic a...	ORPHA:809
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Increased urinary glycerol, Downtu...	OMIM:307030
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Cystic renal dysplasia, Reduced tissue carnitine...	ORPHA:157
Trisomy 8P	Abnormal lung lobation, Thin vermilion border, Annular pancreas, Multiple joint contractures, Per...	ORPHA:264450
Cystic Fibrosis	Pneumothorax, Nontuberculous mycobacterial pulmonary infection, Cirrhosis, Steatorrhea, Recurrent...	ORPHA:586
Distal Deletion 12Q	Ectopic kidney, Biliary atresia, Pituitary adenoma, Long philtrum, Fine hair, Polycystic kidney d...	ORPHA:96149
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal pulmonary interstitial morphology, Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Ba...	ORPHA:2072
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Abnormal periodontium morphology, Tooth malposition, Cyst of the ductus choledochus, Gingival ove...	ORPHA:480880
Cleft Velum	Recurrent otitis media, Oral-pharyngeal dysphagia, Cleft soft palate, Aspiration pneumonia, Velop...	ORPHA:99772
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Highly arched eyebrow, Decreased circulating antibody level, Hirsutis...	ORPHA:3132
Plague	Hematemesis, Sepsis, Carbuncle, Hepatomegaly, Inflammatory abnormality of the eye, Acute infectio...	ORPHA:707
Tropical Endomyocardial Fibrosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Hypoalbuminemia, Splenomegaly, E...	ORPHA:75565
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Anemia, Thick hair, Long eyelashes, Bone marrow hypocellularity, Decreased circulating IgG level,...	ORPHA:505248
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Hyperuric...	OMIM:174000
Ciliary Dyskinesia, Primary, 37	Bronchiectasis, Goiter, Hypothyroidism, Chronic rhinitis	OMIM:617577
Juvenile Neuronal Ceroid Lipofuscinosis	Hyperhidrosis, Dysphagia, Aspiration pneumonia, Abnormal circulating enzyme concentration or acti...	ORPHA:79264
Chronic Graft Versus Host Disease	Nail dystrophy, Elevated circulating hepatic transaminase concentration, Dysphagia, Urinary bladd...	ORPHA:99921
Senior-Loken Syndrome 8	Nephronophthisis, Intrahepatic bile duct dilatation, Glomerular subepithelial immune-complex depo...	OMIM:616307
Bronchiectasis With Or Without Elevated Sweat Chloride 2	Bronchiectasis, Recurrent bronchiolitis, Abnormality of exocrine pancreas physiology, Chronic bro...	OMIM:613021
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification	OMIM:608189
Ciliary Dyskinesia, Primary, 42	Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Increased circulating antibody level, Normochromic anemia, Dec...	ORPHA:91500
Bronchiolitis Obliterans	Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans	ORPHA:1303
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Treacher Collins Syndrome 1	Preauricular hair displacement, Cleft soft palate, Narrow mouth, Cleft palate, Wide mouth, Sparse...	OMIM:154500
Epidermodysplasia Verruciformis, Susceptibility To, 5	Persistent human papillomavirus infection, Lymphopenia, Cryptococcal meningitis, T lymphocytopenia	OMIM:618309
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Recurrent infections, Bilateral wrist flexion contracture, Cong...	ORPHA:97297
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Recurrent aspiration pneumonia, Wide mouth, Dysphagia, Rectovestibula...	ORPHA:280633
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Flexion contracture, Elevated circulating creatine kinase concentration	OMIM:253700
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Orotic Aciduria	Hematuria, Oroticaciduria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Roifman-Chitayat Syndrome	Ectopic kidney, Arthritis, Thin lower lip vermilion, Umbilical hernia, Pneumonia	OMIM:613328
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Coffin-Siris Syndrome	Thick lower lip vermilion, Hypospadias, Horseshoe kidney, Delayed eruption of teeth, Recurrent in...	ORPHA:1465
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Broad eyebrow, Corneal scarring, Hypohidrosis, Recurrent pneumonia, Urethral stricture, Bronchiec...	OMIM:301220
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent Staphylococcus aureus infections, Anemia, Premature loss of teeth, Abnormality of humor...	ORPHA:642
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Sepsis, Atelectasis, Respiratory tract infection, Pneumonia	ORPHA:70587
Sporadic Creutzfeldt-Jakob Disease	Recurrent infections, Sepsis, Recurrent aspiration pneumonia	ORPHA:204
Tetrasomy 9P	Abnormal number of permanent teeth, Biliary atresia, Dental crowding, Pericarditis, Bifid uvula, ...	ORPHA:3310
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypospadias, Short philtrum, Hypocalcemia, Hyperbilirubinemia, Cleft palate, Thrombocytop...	ORPHA:163979
Ciliary Dyskinesia, Primary, 35	Chronic otitis media, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Abdominal situs ambi...	OMIM:617092
Trichinellosis	Increased circulating IgE level, Skin rash, Dysphagia, Conjunctivitis, Meningitis	ORPHA:863
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Lipoatrophy, Dysphagia, Long philtrum, Alopecia of scalp, Hypospadias, Abse...	OMIM:264090
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat...	ORPHA:31150
Neuroblastoma	Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:635
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Gastroesophageal reflux, Cyst of the ductus choledochus, Exaggerated cupid's bow, Narrow mouth, B...	OMIM:619480
Lacrimoauriculodentodigital Syndrome 1	Nephrosclerosis, Absence of Stensen duct, Lacrimal gland aplasia, Conical incisor, Xerostomia, Ap...	OMIM:149730
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Tracheoesophageal fistula, Recurrent aspiration pneumonia, Dysph...	ORPHA:2745
Orofaciodigital Syndrome Ix	High palate, Abnormality of the dentition, Camptodactyly, Cleft palate, Recurrent aspiration pneu...	OMIM:258865
Miller-Dieker Lissencephaly Syndrome	Inguinal hernia, Delayed eruption of teeth, Duodenal atresia, Pelvic kidney, Camptodactyly, Ompha...	OMIM:247200
Progeroid Short Stature With Pigmented Nevi	Hypospadias, Impaired T cell function, Irregular dentition, Lack of facial subcutaneous fat, Esop...	OMIM:176690
Hereditary Pulmonary Alveolar Proteinosis	Elevated circulating carcinoembryonic antigen concentration, Crazy paving pattern, Acute infectio...	ORPHA:264675
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal tubular epithelial necrosis, Reduced tissue carnitine O-palmitoyltransferase 2 activity, My...	ORPHA:228302
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Anterior pituitary agenesis, Biliary atres...	ORPHA:2255
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Cirrhosis, Hepatic arteriovenous malformation, Anemia, Intestinal polyposi...	ORPHA:774
Marshall-Smith Syndrome	Short mandibular rami, Highly arched eyebrow, Glossoptosis, Microdontia, Eclabion, Recurrent aspi...	OMIM:602535
Liver Failure, Infantile, Transient	Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Microvesicular hepatic steatosis, Decre...	OMIM:613070
Pancreatic Agenesis-Holoprosencephaly Syndrome	Solitary median maxillary central incisor, Hypoamylasemia, High palate, Pancreatic aplasia, Decre...	ORPHA:556955
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	High palate, Bilateral cryptorchidism, Bifid uvula, Recurrent pneumonia, Recurrent aspiration pne...	OMIM:300472
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Widely spaced teeth, Inguinal hernia, Sparse scalp hair, Camptodactyly...	ORPHA:459061
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Retroperito...	OMIM:602782
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated circulating hepatic transaminase concentration, Hypospadias, Gastroesophageal reflux, Re...	ORPHA:397715
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Intestinal malrotation, Keloids, Narrow palate, Hypospadias, Talon cusp, Nephrol...	ORPHA:353281
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	High palate, Aspiration pneumonia, Sparse lateral eyebrow, Recurrent pneumonia, Tented upper lip ...	ORPHA:314655
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Biliary atresia, Posteriorly placed anus, Total anomalous pulmonar...	OMIM:306955
Kabuki Syndrome 1	Highly arched eyebrow, Intestinal malrotation, Recurrent aspiration pneumonia, Hirsutism, Abnorma...	OMIM:147920
Lymphedema-Distichiasis Syndrome	Abnormality of the pulmonary vasculature, Glomerulopathy, Recurrent urinary tract infections, Dis...	ORPHA:33001
Onychotrichodysplasia And Neutropenia	Trichorrhexis nodosa, Chronic irritative conjunctivitis, Curly eyelashes, Recurrent infections, L...	OMIM:258360
Farber Disease	Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegaly, Thr...	ORPHA:333
Gitelman Syndrome	Neoplasm of the pancreas, Urinary incontinence, Renal potassium wasting, Hyperhidrosis, Parathyro...	ORPHA:358
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Bardet-Biedl Syndrome 1	Abnormality of the kidney, High, narrow palate, Aganglionic megacolon, Dental crowding, Hirsutism...	OMIM:209900
Doors Syndrome	Broad alveolar ridges, Adrenal hyperplasia, Nephrocalcinosis, Long philtrum, Narrow palate, Abnor...	ORPHA:79500
Williams Syndrome	Abnormal circulating lipid concentration, Chronic otitis media, Hypoplasia of penis, Everted lowe...	ORPHA:904
Niemann-Pick Disease Type C	Jaundice, Hepatomegaly, Bone-marrow foam cells, Aspiration pneumonia, Low cholesterol esterificat...	ORPHA:646
Cerebrotendinous Xanthomatosis	Abnormal circulating cholesterol concentration, Cholelithiasis, Pseudobulbar paralysis	OMIM:213700
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatic hemangioma, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastro...	ORPHA:73230
Tick-Borne Encephalitis	Abnormal circulating cytokine concentration, Increased circulating IgG level, Leukocytosis, Incre...	ORPHA:297
Zttk Syndrome	Thin vermilion border, Polyuria, Intestinal atresia, Short philtrum, Unilateral renal agenesis, B...	OMIM:617140
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ketonuria, Hepatomegaly, Aspiration pneumonia, Lacticaciduria	OMIM:619167
Autosomal Dominant Cutis Laxa	Emphysema, Unilateral renal agenesis, Inguinal hernia, Bronchiolitis, Small bowel diverticula, Bl...	ORPHA:90348
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Lassa Fever	Increased circulating IgM level, Jaundice	ORPHA:99824
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Increased red blood cell count, Sinusitis, Granuloma, Pustule, Intrarenal...	ORPHA:68
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Premature graying of hair, Emphysema, Absent eyelashes, Abnorm...	ORPHA:363618
Trisomy 10P	Orofacial cleft, Thin vermilion border, Abnormality of the kidney, Rectovaginal fistula, Gastroes...	ORPHA:171929
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Ureteral duplication, Biliary atresia, Inguinal hernia, Pancreat...	OMIM:600001
Alagille Syndrome 1	Hypertriglyceridemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Duplica...	OMIM:118450
Severe Acute Respiratory Syndrome	Acute infectious pneumonia, Acute kidney injury	ORPHA:140896
Systemic Lupus Erythematosus	Decreased circulating complement C3 concentration, Lymphadenopathy, Thrombocytopenia, Leukopenia,...	ORPHA:536
Hand-Foot-Genital Syndrome	Hypospadias, Vesicoureteral reflux, Chordee, Ureteropelvic junction obstruction, Micropenis, Rena...	OMIM:140000
Geleophysic Dysplasia 3	Pneumonia, Long philtrum, Hepatomegaly, Thick vermilion border	OMIM:617809
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level	ORPHA:1493
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Natal tooth, Proteinuria, Tubuloi...	OMIM:616901
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ...	OMIM:610913
Birk-Landau-Perez Syndrome	Hyperkalemia, Stage 3 chronic kidney disease, Long eyelashes, Renal hypoplasia, Hyperechogenic ki...	OMIM:617595
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Orchitis, Splenomegaly, Peritonitis	ORPHA:32960
Ciliary Dyskinesia, Primary, 43	Abdominal situs inversus, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurre...	OMIM:618699
Infantile Neuroaxonal Dystrophy	Increased circulating lactate dehydrogenase concentration, Flexion contracture, Aspiration pneumonia	ORPHA:35069
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Cholera	Acute kidney injury, Hypokalemia, Hypocalcemia, Achlorhydria, Aspiration pneumonia, Hyponatremia,...	ORPHA:173
Classic Pantothenate Kinase-Associated Neurodegeneration	Dysphagia, Aspiration pneumonia	ORPHA:216866
Craniofacioskeletal Syndrome	Hypospadias, Short philtrum, Hypocalcemia, Cleft palate, Hydronephrosis, Absent gallbladder, Cryp...	OMIM:300712
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Highly arched eyebrow, Dental crowding, Intestinal malrotation, Keloids, Narrow palate, Abnormali...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Highly arched eyebrow, Dental crowding, Intestinal malrotation, Keloids, Narrow palate, Abnormali...	ORPHA:353277
Cartilage-Hair Hypoplasia	Hepatomegaly, Anemia, Decreased circulating antibody level, Sparse eyebrow, Sparse hair, Abnormal...	ORPHA:175
Pulmonary Alveolar Microlithiasis	Pneumothorax, Hepatomegaly, Hematuria, Pleural thickening, Testicular microlithiasis, Bronchitis,...	ORPHA:60025
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Nail dystrophy, Decreased circulating antibody level, Anemia, Alopecia	ORPHA:79396
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Anemia, Broad eyebrow, Leukocytosis, Long eyelashes, Neutrophilia, Low anterior hai...	ORPHA:99843
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Long philtrum, High palate, Elevated circulating alanine aminotransferase concentration, Pancreat...	OMIM:618500
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis	ORPHA:100078
Trichothiodystrophy	Alopecia of scalp, Dystrophic fingernails, Anemia, Panhypogammaglobulinemia, Increased mean corpu...	ORPHA:33364
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Anal atresia, Low posterior hairline, Cleft palate, Natal tooth, Pulmonary hypoplasia, Absent gal...	OMIM:617925
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Broad lateral eyebrow, Bifid uvula, Dysphagia, Short philtrum, Curly hair, Cleft palate, Unilater...	ORPHA:500150
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Japanese Encephalitis	Increased circulating IgM level, Neutrophilia, Increased circulating antibody level	ORPHA:79139
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
Pmm2-Cdg	Elevated circulating hepatic transaminase concentration, Reduced thyroxin-binding globulin, Peric...	ORPHA:79318
Trichothiodystrophy 1, Photosensitive	Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Tiger tail banding, Trichoschisis, Decreased ...	OMIM:601675
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue	ORPHA:53351
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Hypospadias, Horseshoe kidney, Gastroesoph...	ORPHA:444077
Fontaine Progeroid Syndrome	Everted lower lip vermilion, Microdontia, Low posterior hairline, Recurrent aspiration pneumonia,...	OMIM:612289
Congenital Tracheomalacia	Pneumothorax, Partial anomalous pulmonary venous return, Emphysema, Esophageal atresia, Gastroeso...	ORPHA:95430
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy	ORPHA:538
Cocaine Intoxication	Pneumothorax, Acute kidney injury, Gastrointestinal infarctions, Pulmonary edema, Hematuria, Coli...	ORPHA:90068
Medullary cystic kidney disease 2	Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst...	OMIM:603860
Proximal Spinal Muscular Atrophy	Gastroesophageal reflux, Elbow flexion contracture, Recurrent aspiration pneumonia, Flexion contr...	ORPHA:70
Arboleda-Tham Syndrome	Chronic otitis media, Highly arched eyebrow, Intestinal malrotation, Recurrent aspiration pneumon...	OMIM:616268
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	High anterior hairline, Anemia, Gastroesophageal reflux, Vesicoureteral reflux, Nephrolithiasis, ...	ORPHA:438213
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Hypospadias, Short philtrum, Primary hypothyroidism, Abnormality o...	ORPHA:96176
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Solitary median maxillary central incisor,...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Solitary median maxillary central incisor,...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Solitary median maxillary central incisor,...	ORPHA:93924
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Solitary median maxillary central incisor,...	ORPHA:220386
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Dysphagia, Chronic kidney ...	ORPHA:488627
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Abnormality of thyroid physiology, Elevate...	ORPHA:273
Steinfeld Syndrome	Unilateral renal dysplasia, Median cleft palate, Bifid uvula, Absent gallbladder, Median cleft up...	OMIM:184705
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia, Neonatal hyperbilirubinemia	ORPHA:95232
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Aspiration pneumonia, Urinary urgency, Anhidrosis, Flexion co...	ORPHA:99027
Cerebrotendinous Xanthomatosis	Cholelithiasis, Abnormal circulating enzyme concentration or activity, Premature loss of teeth, H...	ORPHA:909
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Dysphagia, Aspiration pneumonia, Abnormal circulating enzyme...	ORPHA:845
Wolf-Hirschhorn Syndrome	Orofacial cleft, Hypospadias, Short philtrum, Accessory spleen, Hypodontia, Gastroesophageal refl...	OMIM:194190
Distal Deletion 19P	Decreased circulating antibody level, Thick eyebrow, Alopecia	ORPHA:96129
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Autosomal Recessive Malignant Osteopetrosis	Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly	ORPHA:667
Mercury Poisoning	Interstitial pneumonitis, Hypokalemia, Acute kidney injury	ORPHA:330021
Sjogren Syndrome	Rheumatoid arthritis, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca	OMIM:270150
Intermediate Uveitis	Optic neuritis, Tubulointerstitial nephritis, Anterior uveitis, Macular scar, Psoriasiform dermat...	ORPHA:279914
Combined Oxidative Phosphorylation Deficiency 25	Long philtrum, Smooth philtrum, Aspiration pneumonia	OMIM:616430
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Dental crowding, Elbow flexion contracture, High palate, Aspiration pn...	ORPHA:2020
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Orofacial cleft, Renal hypoplasia/aplasia, Omphalocele, Abnormal localization of kidney, Absent g...	ORPHA:3186
Diarrhea 10, Protein-Losing Enteropathy Type	Decreased circulating antibody level, Cryptorchidism	OMIM:618183
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Bickerstaff Brainstem Encephalitis	Recurrent gastroenteritis, Pneumonia, Respiratory tract infection, Severe infection	ORPHA:79138
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Biliary tract abnormality, Umbilical hernia, Long phi...	OMIM:261540
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ...	ORPHA:217563
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Anomalous pulmonary venous return, Recurrent bacterial infections	ORPHA:99104
Roberts-Sc Phocomelia Syndrome	Ankle flexion contracture, Hypospadias, Accessory spleen, Long penis, Polycystic kidney dysplasia...	OMIM:268300
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Gastroesophageal reflux, Small intestinal dysmotility, Aspiration pneumonia...	OMIM:619482
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Recurrent bacterial infections	ORPHA:99103
Sponastrime Dysplasia	Decreased circulating antibody level, Neutropenia	ORPHA:93357
Yunis-Varon Syndrome	Thin vermilion border, Hypospadias, Short philtrum, Broad alveolar ridges, Hypoplastic nipples, H...	OMIM:216340
Lafora Disease	Recurrent aspiration pneumonia, Hepatic failure	ORPHA:501
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hydrocele testis, Cryptorchidism, Decreased circulating antibody level, Asplenia	ORPHA:261537
Mowat-Wilson Syndrome	Hydrocele testis, Cryptorchidism, Decreased circulating antibody level, Asplenia	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hydrocele testis, Cryptorchidism, Decreased circulating antibody level, Asplenia	ORPHA:261552

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 Map3k14

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 Map3k14.

No publications found that use IMPC mice or data for Map3k14.

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
Map3k14^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Map3k14^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Map3k14^{tm33704(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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