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Gene: Fas MGI:95484

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

Fas cell surface death receptor

Synonyms:

CD95, Tnfrsf6, APO-1, TNFR6

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 Fas 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 Fas (4 diseases)
Human diseases predicted to be associated with Fas (2349 diseases)

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

Disease	Matching phenotypes	Source
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:601859
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, T...	ORPHA:3261
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acn...	ORPHA:117
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Cataract, Poliosis, Abnormal eyelash morphology, Sensorineural heari...	ORPHA:3437

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

Disease	Matching phenotypes	Source
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula...	OMIM:614420
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:601859
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I...	OMIM:613652
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:608106
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p...	OMIM:613779
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia...	OMIM:618495
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Recurrent infections, Lymphadenopat...	OMIM:618982
Immunodeficiency 24	Lymphopenia, Recurrent viral infections, Decreased CD4:CD8 ratio, Severe varicella zoster infecti...	OMIM:615897
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:603909
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections	OMIM:242870
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased c...	OMIM:615513
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Complement Component 4A Deficiency	Glomerulonephritis, Vasculitis, Reduced hemolytic complement activity, Systemic lupus erythematos...	OMIM:614380
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Aut...	OMIM:614470
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection...	OMIM:616452
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level	OMIM:609529
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Fulminant hepatitis, Lymphocytosis, Neutropenia, Decreased circulating IgG level...	OMIM:308240
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thrombocytopenia, ...	OMIM:613496
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Spider hemangioma, Fulminant hepatitis, Increa...	ORPHA:2137
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, T...	ORPHA:3261
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of...	OMIM:619924
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp...	ORPHA:169154
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C...	OMIM:618048
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Immunodeficiency 48	Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Pa...	OMIM:269840
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ...	ORPHA:329918
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Immunodeficiency 27A	Rheumatoid factor positive, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Incr...	OMIM:209950
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Autoimmunity, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin lev...	ORPHA:98813
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Secretory diarrhea, Abnormal blood ion con...	ORPHA:37042
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence o...	ORPHA:277
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Immunodeficiency 95	Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul...	OMIM:619773
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Immunodeficiency, Common Variable, 2	Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recur...	OMIM:240500
Igg4-Related Kidney Disease	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,...	ORPHA:449395
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi...	OMIM:300853
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circu...	ORPHA:37748
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci...	OMIM:619802
Activated Pi3K-Delta Syndrome	Hepatomegaly, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circu...	ORPHA:397596
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Simple Cryoglobulinemia	Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Myocardial infarction, Mesan...	ORPHA:91139
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la...	OMIM:614700
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, T lymphocytopenia, Scaling skin, Hypothyroidism, Hemolytic anemia, Psoriasiform ...	OMIM:606367
Reni Syndrome	Diffuse mesangial sclerosis, Lymphopenia, Proteinuria, Ataxia, Mesangial hypercellularity, Hypoth...	OMIM:617575
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Incr...	OMIM:615934
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia...	OMIM:617514
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Autoimmunity, Splenomegaly, Enlarged tonsils, Chronic lymphatic ...	OMIM:616005
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Brucellosis	Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,...	ORPHA:1304
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ...	ORPHA:443811
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce...	OMIM:618987
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos...	ORPHA:331206
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Antinuclear antibody positivity, Dyspnea, Tachypnea, Crescentic glome...	OMIM:616414
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom...	ORPHA:444463
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Microdontia, Nephropathy, Nephrotic range proteinuria, Min...	ORPHA:1830
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o...	OMIM:618459
Omenn Syndrome	Hepatomegaly, Autoimmunity, Eosinophilia, Edema, Pneumonia, Splenomegaly, Leukocytosis, Chronic d...	ORPHA:39041
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ...	OMIM:613500
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Autoimmune antibody positivity, Follicular hyperplasia	ORPHA:60026
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thromb...	OMIM:102700
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections...	OMIM:613493
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Igg4-Related Aortitis	Increased inflammatory response, Thoracic aortic aneurysm, Autoimmunity, Increased circulating Ig...	ORPHA:449400
Q Fever	Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti...	ORPHA:781
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria	ORPHA:419
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ...	OMIM:617241
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ...	OMIM:300755
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal natural killer cell ...	OMIM:212050
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Hypocomplementemic Urticarial Vasculitis	Uveitis, Conjunctivitis, Glomerulopathy, Hepatomegaly, Ataxia, Pericardial effusion, Lymphadenopa...	ORPHA:36412
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec...	OMIM:615122
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Thrombocy...	OMIM:304790
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:613101
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:617099
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Petechiae...	ORPHA:83313
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopeni...	OMIM:615285
Mantle Cell Lymphoma	Splenomegaly, Weight loss, B-cell lymphoma, Lymphadenopathy	ORPHA:52416
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ...	ORPHA:289390
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu...	OMIM:301082
Iga Nephropathy, Susceptibility To, 1	Purpura, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the...	OMIM:161950
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha...	ORPHA:42642
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H...	ORPHA:911
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Vasculitis, Hematuria, Arthritis,...	ORPHA:375
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Elevated circulating C-rea...	ORPHA:85414
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Gaisböck Syndrome	Myocardial infarction, Nephrocalcinosis, Increased circulating renin level, Cholecystitis, Periph...	ORPHA:90041
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, H...	ORPHA:91138
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutro...	OMIM:301078
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Idiopathic Pulmonary Hemosiderosis	Rheumatoid factor positive, Glomerulonephritis, Crackles, Diffuse alveolar hemorrhage, Antinuclea...	ORPHA:99931
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Reduced natural ...	ORPHA:540
Kimura Disease	Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia	ORPHA:482
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Skin rash, Elevated circul...	ORPHA:829
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Mixed Connective Tissue Disease	Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Nephropathy, Hemolytic anemia, Hepatom...	ORPHA:809
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Postinfectious Vasculitis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Gastrointestin...	ORPHA:48435
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly...	OMIM:608184
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci...	OMIM:608709
Cernunnos-Xlf Deficiency	Autoimmunity, Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia,...	ORPHA:169079
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Immunodeficiency 20	Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se...	OMIM:615707
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Facial edema, Xerostomia, Tubulointerstitial nephritis, Abnormal salivary gland morphol...	ORPHA:79078
Immunodeficiency 37	Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent...	OMIM:616098
Tularemia	Brain abscess, Tachycardia, Skin rash, Pneumonia, Confusion, Erythema nodosum, Abnormal nasophary...	ORPHA:3392
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Lymphoproliferative Syndrome 1	Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopeni...	OMIM:613011
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy...	OMIM:613953
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med...	ORPHA:572
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis, Neutropenia, Atrial septal defect,...	OMIM:617303
Lymphoproliferative Syndrome 3	Severe varicella zoster infection, Lymphadenopathy, Decreased circulating antibody level, Recurre...	OMIM:618261
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Ne...	ORPHA:171
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili...	ORPHA:139402
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Drug-Induced Lupus Erythematosus	Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating creatine ki...	ORPHA:231111
Insulin Autoimmune Syndrome	Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu...	ORPHA:411593
Igg4-Related Submandibular Gland Disease	Cholangitis, Facial edema, Periorbital edema, Xerostomia, Increased circulating IgG level, Abnorm...	ORPHA:449432
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Rec...	OMIM:602450
Immunodeficiency 23	Hemolytic anemia, Somatic sensory dysfunction, Membranoproliferative glomerulonephritis, Rheumato...	OMIM:615816
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Medial calcification of large arteries, Functional abnormality of the bladder, T...	ORPHA:391487
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperiton...	ORPHA:64744
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat...	OMIM:616730
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti...	OMIM:619644
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella...	ORPHA:331235
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	ORPHA:158048
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur...	OMIM:619824
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ...	OMIM:619281
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Autoimmunity, Myopathy, Decreased circulating complement C3 concentr...	ORPHA:79087
Al Amyloidosis	Howell-Jolly bodies, Xerostomia, Abnormality of the liver, Abnormal EKG, Hepatomegaly, Abnormalit...	ORPHA:85443
American Trypanosomiasis	Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Autoimmune antibody positivity, Lymphadenopat...	ORPHA:3386
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Vasculitis, Optic a...	ORPHA:575
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen...	ORPHA:2688
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased circulating IgG level, Leukopenia, Hypoalbumi...	ORPHA:2298
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Intestinal bleeding, Interstitial cardiac fib...	ORPHA:90291
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Leishmaniasis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral muco...	ORPHA:507
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Thymoma	Myositis, Aplastic anemia, Autoimmunity, Glomerulonephritis, Pure red cell aplasia, Abnormal lymp...	ORPHA:99867
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody...	ORPHA:93126
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Recurrent ph...	ORPHA:549
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Obesity, Lymphadenopathy	ORPHA:99976
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibody positivity, Decreased circulating...	OMIM:618394
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Acquired Ichthyosis	Renal insufficiency, Recurrent skin infections, Autoimmunity, Erythema, Hyperkeratosis, Palmoplan...	ORPHA:454
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat...	OMIM:612692
Spondyloenchondrodysplasia With Immune Dysregulation	Purpura, Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, H...	OMIM:607944
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla...	OMIM:619858
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Oral ulcer, Leukopenia, Lupus anticoagulan...	OMIM:615688
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Recurrent herpes, Eosinophilia, Recurrent pneumonia, Hepatitis, Recurrent candida in...	ORPHA:169160
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve...	ORPHA:343
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos...	OMIM:260920
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona...	ORPHA:567548
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Severe varicella zoster infection, Lymphadenitis, Sepsis, Leukopenia...	OMIM:618986
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Periorbital edema,...	ORPHA:449563
Waldenström Macroglobulinemia	Normocytic anemia, Abnormality of neutrophils, Hepatomegaly, Ataxia, Vertigo, Vasculitis, Lymphad...	ORPHA:33226
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit...	OMIM:613501
C1Q Deficiency 3	Antinuclear antibody positivity, Recurrent bacterial meningitis, Discoid lupus rash	OMIM:620322
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell...	OMIM:603553
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Abnorma...	ORPHA:47
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux...	ORPHA:183
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Inflammatory abnormality of the skin, Vasculitis in the skin, Ab...	ORPHA:90159
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly...	OMIM:616100
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia...	OMIM:243700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease...	OMIM:162000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom...	OMIM:607624
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Pediatric Systemic Lupus Erythematosus	Myositis, Leukopenia, Vomiting, Decreased circulating complement C4 concentration, Lupus anticoag...	ORPHA:93552
Neuromyelitis Optica Spectrum Disorder	Autoimmune antibody positivity, Functional abnormality of the bladder, Optic neuritis, Peripheral...	ORPHA:71211
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos...	ORPHA:90280
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c...	OMIM:619381
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis, Cardiac shunt	OMIM:305800
Iga Pemphigus	Eosinophilia, Autoimmune antibody positivity, Monoclonal elevation of circulating IgA, Increased ...	ORPHA:555905
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Ventricular septal defect, Minimal change glome...	OMIM:618348
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Increased circulating ...	OMIM:613179
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl...	OMIM:618852
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren...	ORPHA:275
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocyt...	OMIM:601457
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Edema, Malabsorption, Pulmonary embolism, Hypothyroidism, D...	OMIM:226300
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum	OMIM:619986
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Immunodeficiency 32B	Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombo...	OMIM:226990
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomegaly, Lymphopenia, ...	OMIM:620210
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Symmetric polyarthritis, Rheumatoid factor positive, Elevated circulating C-reactive protein conc...	ORPHA:85435
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Edema, Abnormal small intestinal villus morphology, Hypoalbuminemia, Hypocal...	ORPHA:90362
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Inf...	OMIM:301000
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos...	ORPHA:66661
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Hypermelanotic macule, S...	OMIM:617730
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm...	ORPHA:293978
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ...	ORPHA:99827
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Cardiomegaly, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hy...	ORPHA:465508
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Microscopic Polyangiitis	Sinusitis, Uveitis, Glomerulopathy, Vasculitis, Oliguria, Subcutaneous hemorrhage, Episcleritis, ...	ORPHA:727
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Systemic Lupus Erythematosus	Lupus nephritis, Chorea, Leukopenia, Decreased circulating complement C4 concentration, Serositis...	ORPHA:536
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Abscess, Abnormality of the testis size, Eosinophil...	ORPHA:400
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt...	OMIM:613845
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia	ORPHA:2134
Non-Epidermolytic Palmoplantar Keratoderma	Erythema, Skin ulcer	ORPHA:2337
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Decreased serum insulin-like growth factor 1, Eczema, Celiac disease, Increased circulating IgE l...	OMIM:618985
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ...	ORPHA:183675
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Prolidase Deficiency	Hepatomegaly, Petechiae, Eczema, Hyperimidodipeptiduria, Splenomegaly, Thrombocytopenia, Recurren...	OMIM:170100
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Galactosemia I	Hemolytic anemia, Hepatomegaly, Cataract, Elevated circulating aspartate aminotransferase concent...	OMIM:230400
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus	OMIM:613791
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Hepatoportal Sclerosis	Elevated hepatic transaminase, Anticardiolipin IgG antibody positivity, Portal hypertension, Port...	ORPHA:64743
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Autoimmunity, Pneumonia, Recurrent viral infections, Splenomegaly...	ORPHA:169090
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Edema, Malabsorption, Pedal edema, Intestinal lymphangiectasia, ...	OMIM:152800
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Enterocolitis, Anemi...	OMIM:616050
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Pancytopenia, Autoimmunity, Cholangitis, Portal hypertension, Hypersplenism, Hypothyroidism, Anti...	ORPHA:228426
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy...	ORPHA:562639
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Proteinuria, E...	OMIM:614034
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Chorea, Anti-dsDNA antibody positivity, Ju...	ORPHA:1855
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Abnormality of the kidney, Keratitis, Meningit...	ORPHA:1163
Cowden Syndrome 1	Colonic diverticula, Hyperthyroidism, Thyroiditis, Decreased circulating antibody level, Hydrocel...	OMIM:158350
Preeclampsia/Eclampsia 1	Proteinuria, Thrombocytopenia	OMIM:189800
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Weight loss, Lymphadenop...	ORPHA:86893
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Conjunctiviti...	OMIM:603552
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Muckle-Wells Syndrome	Renal insufficiency, Maculopapular exanthema, Leukocytosis, Conjunctivitis, Renal amyloidosis, Re...	OMIM:191900
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease	OMIM:615995
Subacute Inflammatory Demyelinating Polyneuropathy	Symmetric peripheral demyelination, Demyelinating motor neuropathy, Leukocytosis, Severe infectio...	ORPHA:206594
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Splenomegaly, Myocarditis, Meningitis, Lymphade...	ORPHA:83317
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:158061
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Cellular urinary cast...	ORPHA:509
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Hypospadias, Glomerulonephritis, Proteinuria, Ataxia, ...	OMIM:619428
Immunodeficiency 92	Hepatomegaly, Recurrent oral herpes, Persistent CMV viremia, Cholangitis, BCGosis, Leukocytosis, ...	OMIM:619652
Papa Syndrome	Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Skin ulcer, Lymphadenopath...	ORPHA:69126
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Conjunctivitis, Hypoalbuminemia, Atrial septal defect, Decreased circulating IgG leve...	ORPHA:505248
Zika Virus Disease	Maculopapular exanthema, Skin rash, Thrombocytopenia, Meningitis, Acute demyelinating polyneuropa...	ORPHA:448237
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Immunodeficiency 43	Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab...	OMIM:241600
Immunodeficiency 16	Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia	OMIM:615593
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea...	OMIM:615607
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Autoimmunity, Portal hypertension, Hypersplenism, Splenomegaly, Limit...	OMIM:613385
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Complement Factor H Deficiency	Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g...	OMIM:609814
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia	OMIM:616941
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Systemic Lupus Erythematosus 17	Hypertensive crisis, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Raynaud phenom...	OMIM:301080
Common Variable Immunodeficiency	Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Bronchiectasi...	ORPHA:1572
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Immunodeficiency 46	Chronic oral candidiasis, Intermittent thrombocytopenia, Chronic diarrhea, Decreased circulating ...	OMIM:616740
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Au...	ORPHA:229717
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid factor positive, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ...	ORPHA:227990
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren...	OMIM:256300
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic syndrome, Membranous nephropathy, ...	OMIM:618999
Avian Influenza	Elevated hepatic transaminase, Pneumonia, Meningitis, Hepatitis, Sepsis, Leukopenia, Conjunctivit...	ORPHA:454836
Amyloidosis, Familial Visceral	Proteinuria, Skin rash, Splenomegaly, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nephritis, Leuk...	ORPHA:227982
Juvenile Temporal Arteritis	Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia	ORPHA:26137
Crigler-Najjar Syndrome	Jaundice, Abnormality of the liver, Infectious encephalitis	ORPHA:205
Extracranial Carotid Artery Aneurysm	Autoimmunity, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Arteri...	ORPHA:494424
Farber Lipogranulomatosis	Hepatomegaly, Ulnar deviation of the wrist, Splenomegaly, Cherry red spot of the macula, Arthriti...	OMIM:228000
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Lymphoma, Hepatosplenomegaly, Decreased proportion of class-switched memo...	OMIM:619126
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Failure to thrive in infancy, Hepatomegaly	OMIM:619175
Blau Syndrome	Xerostomia, Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Nephropathy, Ab...	ORPHA:90340
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Podocyte foot process effacement, Stage 5 chronic kidney disease, Th...	OMIM:619155
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Primary Biliary Cholangitis	Orthostatic hypotension, Autoimmunity, Portal hypertension, Increased circulating IgA level, Anti...	ORPHA:186
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Dehydration, Decreased circulatin...	ORPHA:33355
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Typhoid	Splenomegaly, Hepatomegaly, Infectious encephalitis, Skin rash	ORPHA:99745
Preeclampsia	Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Autoimmunity, Chronic kidn...	ORPHA:275555
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmunity, Severe...	OMIM:615387
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal bleeding, Lymphedema, Malabsorption, Decreased circulating antibody level, Lymphopenia, ...	ORPHA:1116
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Neonatal Alloimmune Neutropenia	Pneumonia, Severe infection, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Seps...	ORPHA:464370
Autosomal Agammaglobulinemia	Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, External ear malforma...	ORPHA:33110
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity...	OMIM:617718
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Stomatitis, Eczema, Celiac disease, Diarrhea, Thyroiditis, Steatorrhea, Iron d...	OMIM:212750
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Takayasu Arteritis	Abnormal endocardium morphology, Increased inflammatory response, Hypertensive crisis, Abnormal h...	ORPHA:3287
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration...	OMIM:620010
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Pediatric-Onset Graves Disease	Anti-thyroid peroxidase antibody positivity, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, I...	ORPHA:525731
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Increased circulating myelocyt...	ORPHA:36234
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Thrombocytopenia, Leukocytosis, Myocarditis, Meningiti...	ORPHA:292
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Cataract, Autoimmunity, Autoimmune hypoparathyroi...	ORPHA:36913
Giant Cell Arteritis	Hyperhidrosis, Conductive hearing impairment, Abdominal aortic aneurysm, Ataxia, Sudden cardiac d...	ORPHA:397
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l...	OMIM:618108
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne...	OMIM:614868
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, V...	ORPHA:3260
Whim Syndrome 1	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac...	OMIM:193670
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Granulomatosis With Polyangiitis	Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Glomerulopathy, Ureteral stenosis,...	ORPHA:900
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Almond-shaped palpebral fissure, Stage 5 chronic kidney disease, Cho...	OMIM:619603
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Villous atrophy, Inflammatory abnormality of the skin, Micr...	ORPHA:398063
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland...	ORPHA:2552
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor...	ORPHA:228123
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepa...	OMIM:300635
Carcinoid Syndrome	Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Hepatic necrosis, Pulmonary...	ORPHA:100093
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid...	ORPHA:319552
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Krabbe Disease	Autoimmune thrombocytopenia, Optic atrophy, Reduced galactocerebrosidase activity, CNS demyelinat...	OMIM:245200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Prolonged bleeding following procedure, Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of...	ORPHA:79259
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis, Thrombocytopenia	ORPHA:3327
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Meningitis, Lymphadenopathy, Anemia, Leukopenia, Hemophagoc...	OMIM:267700
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, In...	ORPHA:340
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Su...	ORPHA:169802
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Cednik Syndrome	Proteinuria, Ataxia, Congestive heart failure, Sensorineural hearing impairment, Optic atrophy, N...	ORPHA:66631
Spermatogenic Failure, X-Linked, 1	Sertoli cell-only phenotype, Obesity	OMIM:305700
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal lower limb amyotrophy, Proteinuria, Claw hand deformity, Sensorineural hearing impairment,...	OMIM:614455
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acn...	ORPHA:117
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Eczema, Oligoarthritis, T lymphocytopenia, Decreased circulating...	OMIM:619510
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Deep philtrum, Recurren...	OMIM:619750
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthritis, Oligoarthrit...	ORPHA:85408
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:615767
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Eczema, Lymphadenitis, Splenome...	OMIM:615895
Paraparetic Variant Of Guillain-Barré Syndrome	Recurrent acute respiratory tract infection, Peripheral axonal neuropathy, Urinary bladder sphinc...	ORPHA:231445
Nephronophthisis	Renal insufficiency	ORPHA:655
Subcorneal Pustular Dermatosis	Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema...	ORPHA:48377
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Schistocytosis, Elevat...	OMIM:274150
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react...	OMIM:620321
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Redundant neck skin, Polyhydramnios, Lymphedema, High palate, Hypocalcemia, Protein-losing entero...	OMIM:235255
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Cataract, Proteinuria, Ataxia, Congestive heart failure, Sen...	ORPHA:225
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Autoimmunity, Myocardial infarction, Abn...	ORPHA:732
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi...	OMIM:301045
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Epicanthus, Proteinuria, Stage 5 chronic kidney disease, Coarctation...	OMIM:617729
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Oral ulcer, L...	ORPHA:50918
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Progressive neurologic deterioration, Cryptorchidism, Sensorineural hearing impairme...	ORPHA:1192
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:54057
Wilson Disease	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Joint swelling, Arthritis, Cirrhosis, Ac...	ORPHA:905
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Myh9-Related Disease	Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc...	ORPHA:182050
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis...	ORPHA:533
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Dental crowding, Hypoammonemia, Deep philtrum, Dehydration, Oligosaccharidur...	ORPHA:534
Gaucher Disease Type 1	Osteoarthritis, Pedal edema, Leukopenia, Biliary tract obstruction, Hepatomegaly, Pericardial eff...	ORPHA:77259
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Circulating ...	ORPHA:2035
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614376
Congenital Disorder Of Glycosylation, Type Iil	Elevated circulating creatine kinase concentration, Impaired T cell function, Inflammation of the...	OMIM:614576
Galloway-Mowat Syndrome 5	Epicanthus, Proteinuria, Ataxia, Stage 5 chronic kidney disease, Focal segmental glomeruloscleros...	OMIM:617731
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Natal tooth, Increased circulating IgA level, Bilateral cryptorchidism, Carious teet...	OMIM:616395
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs...	ORPHA:35078
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce...	OMIM:618935
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Thin upper lip vermilion, Hypogonadotropic hypogon...	ORPHA:353298
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis	OMIM:278300
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Elevated circulating C-reactive protein conce...	OMIM:612852
Sarcoidosis	Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Nephrocalcinosis, Tubuloin...	ORPHA:797
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Brushfield spots, Cryp...	OMIM:214100
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney d...	ORPHA:79147
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Anemia	ORPHA:2668
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Epicanthus, Proteinuria, Cataract, Ataxia, Opti...	OMIM:251300
Alopecia Areata 1	Autoimmunity	OMIM:104000
Chédiak-Higashi Syndrome	Edema, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholog...	ORPHA:167
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Farber Disease	Abnormality of the knee, CNS foam cells, Intrahepatic cholestasis with episodic jaundice, Abnorma...	ORPHA:333
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Recurrent otitis...	OMIM:615993
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono...	OMIM:616871
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,...	ORPHA:293173
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane...	OMIM:617780
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule...	ORPHA:839
Lassa Fever	Shock, Abnormal bleeding, Jaundice, Diarrhea, Oliguria, Increased circulating IgM level, Conjunct...	ORPHA:99824
Rheumatoid Arthritis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Vasculitis, An...	OMIM:180300
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei...	ORPHA:449427
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ...	OMIM:619705
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb...	ORPHA:95715
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, S...	ORPHA:567546
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo...	ORPHA:486
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Progressive neurologic deterioration, Elevated gamma-glutamyltransferase level...	ORPHA:247691
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo...	ORPHA:319487
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Recurrent respiratory infections, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Eosinophilopenia	Decreased eosinophil count, Autoimmunity, Allergic rhinitis	OMIM:131430
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level, Vasculitis in the skin	ORPHA:90000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tract infections, Recurrent candida...	OMIM:614069
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Aicardi-Goutieres Syndrome 9	Edema, Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hemolyti...	OMIM:619487
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal neck blood vessel morphology, Abnormal lymph node...	ORPHA:97290
Shigellosis	Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, Conjunctivitis, Vomiting, Nausea, A...	ORPHA:810
Chilblain Lupus 1	Antinuclear antibody positivity, Chilblains, Skin ulcer	OMIM:610448
Trimethylaminuria	Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia	OMIM:602079
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Abnormality of the elbow, Splenic ruptu...	ORPHA:98878
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Reduced natural killer ce...	OMIM:608233
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Hypochromic microcytic anemia, Hepatosplenomegaly, ...	ORPHA:96123
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hypothyroidi...	OMIM:615846
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Thrombocytopenia, Sp...	OMIM:617591
Schimke Immunoosseous Dysplasia	Bilateral cryptorchidism, Abnormal T cell morphology, Neutropenia, Hypermelanotic macule, Decreas...	OMIM:242900
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Dehydration, Uveitis, Bloody diarrhea, Leukop...	ORPHA:99826
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Perica...	OMIM:181000
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Immunodeficiency, Common Variable, 10	Anti-thyroid peroxidase antibody positivity, Decreased circulating total IgM, Anti-thyroglobulin ...	OMIM:615577
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Antiphospholipid antibody positivity, Petechiae, Chi...	OMIM:225750
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces...	OMIM:233710
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Elevated circulatin...	ORPHA:2796
Moyamoya Disease 1	Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia	OMIM:252350
Secondary Intestinal Lymphangiectasia	Edema, Lymphedema, Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrict...	ORPHA:90363
Immunodeficiency 67	Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf...	OMIM:607676
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Abnormality of the kidney, 3-Methylglutaconic aciduria, Infectious enc...	ORPHA:1194
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Uveitis, Conjunctivitis, Hepatomegaly, Ataxia, Hypermelanoti...	ORPHA:90321
Immunodeficiency 22	Decreased circulating IgG level, Autoimmunity, Thrombocytopenia, Decreased circulating total IgM,...	OMIM:615758
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Vo...	ORPHA:85450
Familial Mediterranean Fever	Acute hepatic failure, Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Nephropathy, Vasc...	ORPHA:342
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Celiac disease, A...	OMIM:615952
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis, Renal amyloidosis, Hearing impairment	OMIM:120100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Hemochromatosis, Neonatal	Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H...	OMIM:231100
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Nephrosialidosis	Nephropathy, Nephrotic syndrome, Renal insufficiency	OMIM:256150
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia...	OMIM:242700
Galloway-Mowat Syndrome 6	Proteinuria, Decreased response to growth hormone stimulation test, Downturned corners of mouth, ...	OMIM:618347
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Weight loss,...	ORPHA:545
Neuraminidase Deficiency	Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu...	OMIM:256550
Kawasaki Disease	Sterile pyuria, Conjunctivitis, Cholecystitis, Leukocytosis, Vasculitis, Hepatitis, Ascending tub...	ORPHA:2331
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Whipple Disease	Hepatomegaly, Myositis, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocarditis, Uve...	ORPHA:3452
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces...	OMIM:233690
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Cataract, Ventricular septal defect, Abnormal c...	ORPHA:488618
Amyloidosis, Finnish Type	Nephrotic syndrome, Renal insufficiency, Cutis laxa	OMIM:105120
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Congenital Disorder Of Glycosylation, Type Ia	Villous atrophy, Edema, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, Vomiting, Hypocholesterole...	OMIM:212065
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Jaundice, Severe viral infection, Hepatitis, Uveitis, A...	ORPHA:319251
Tempi Syndrome	Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG lev...	ORPHA:284227
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia	OMIM:617638
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog...	ORPHA:251004
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent...	OMIM:615518
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Decreased circulating complement factor B concentration, Hemolytic-uremi...	OMIM:235400
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Recurrent herpes, Herpes simplex encephalitis	OMIM:610551
Moderate Hemophilia A	Arthropathy, Hip contracture, Gastrointestinal hemorrhage, Epidural hemorrhage, Abnormal bleeding...	ORPHA:169805
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Increased circu...	OMIM:242860
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Granulomatous Slack Skin	Redundant skin, Erythema, Cutis laxa, Nephrocalcinosis, Acute kidney injury	ORPHA:33111
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Chronic infection, Micronodular cirrhosi...	ORPHA:139507
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Recurrent respiratory infections, Hepatomegaly	ORPHA:139406
Diffuse Alveolar Hemorrhage	Antiphospholipid antibody positivity, Rheumatoid factor positive, Proteinuria, Autoimmunity, Anti...	ORPHA:90060
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Sple...	OMIM:603554
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Uveitis, Conjunctivitis, Vomiting, Hypermelanotic macule, Leukocytosis, Vasc...	ORPHA:32960
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
New-Onset Refractory Status Epilepticus	Infectious encephalitis, Autoimmunity	ORPHA:363558
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Adult Acute Respiratory Distress Syndrome	Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula...	ORPHA:70578
Immunodeficiency 101 (Varicella Zoster Virus-Specific)	Cerebral vasculitis	OMIM:619872
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Decreased circulating antibody level	OMIM:616873
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Polyhydra...	ORPHA:1655
Febrile Infection-Related Epilepsy Syndrome	EEG abnormality, Sinusitis, Autoimmunity	ORPHA:163703
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Leukodystrophy, Recur...	ORPHA:79124
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr...	OMIM:300555
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormality of the knee, Enlarged interphalangeal joints, Abnormal circulating C-reactive protein...	ORPHA:1159
Sneddon Syndrome	Antiphospholipid antibody positivity, Cerebral hemorrhage, Decreased circulating total IgM, Hyper...	OMIM:182410
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Poikiloderma With Neutropenia	Skin rash, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Nasolacrimal duct obstruction, Reti...	OMIM:604173
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Agel Amyloidosis	Deficit in phonologic short-term memory, Cataract, Proteinuria, Ataxia, Facial palsy, Bilateral p...	ORPHA:85448
Thyroid Lymphoma	Hyperthyroidism, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology	OMIM:609886
Yellow Fever	Increased circulating interleukin 6 concentration, Anuria, Elevated circulating creatine kinase c...	ORPHA:99829
Myasthenia Gravis	Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Anti-acet...	ORPHA:589
Felty Syndrome	Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal...	ORPHA:47612
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Ataxia, Abnormality of the upper urinary tract, Bilateral ptosis, Autoimmune antibody ...	ORPHA:99885
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Edema, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Dry ...	ORPHA:2584
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Decreased response to growth hormone stimulation test, Fetal ascites, Ascending ...	OMIM:619503
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Polyhydramnios, Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis...	OMIM:243150
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Trichohepatoenteric Syndrome 1	Villous atrophy, Polyhydramnios, Hypoalbuminemia, Hepatic fibrosis, Intractable diarrhea, Bifid u...	OMIM:222470
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Vomiting, Gastroesophageal reflux, Elevated gamma-glutamyltransferase level, H...	OMIM:619525
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Anti-thyroid peroxidase antibody ...	OMIM:274300
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Absent eyebrow, Renal insufficiency, Membranoproliferative ...	OMIM:137940
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity	ORPHA:98827
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Gm1 Gangliosidosis	Recurrent respiratory infections, Splenomegaly, Patent ductus arteriosus, Optic atrophy, Hepatosp...	ORPHA:354
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Onion bulb formation, Decreased phosphoribosylpyrophosphate synthetase level, Segm...	OMIM:311070
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Ataxia, Seborrheic dermatitis, Splenomegaly, ...	OMIM:253260
Livedoid Vasculopathy	Venous insufficiency, Abnormality of complement system, Pedal edema, Hyperhomocystinemia, Lupus a...	ORPHA:542643
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:607734
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Ataxia, Sensorineural hearing impairment, Rag...	OMIM:607426
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Aapoaiv Amyloidosis	Paraproteinemia, Left bundle branch block, Sinus bradycardia, Elevated circulating creatinine con...	ORPHA:439232
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro...	OMIM:619752
Acute Disseminated Encephalomyelitis	Viral hepatitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Disseminated viral...	ORPHA:83597
Alg12-Cdg	Redundant skin, Edema, Polyhydramnios, Hypoalbuminemia, Short philtrum, Gastroesophageal reflux, ...	ORPHA:79324
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Rosaï-Dorfman Disease	Erythema, Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Chikungunya	Facial edema, Pedal edema, Enthesitis, Vomiting, Skin vesicle, Infectious encephalitis, Abnormal ...	ORPHA:324625
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Bilirubinuria, Conjunctival icterus, Jaund...	ORPHA:3111
Primary Erythromelalgia	Leukemia, Vasculitis	ORPHA:90026
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Infectious encephalitis, ...	ORPHA:73263
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Ede...	ORPHA:2315
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Herpes simplex encephalitis, Meningitis	OMIM:617900
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Vasculitis, Skin rash, Hepatomegaly	OMIM:601979
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7	Herpes simplex encephalitis	OMIM:616532
Tangier Disease	Hepatomegaly, Peripheral axonal neuropathy, Splenomegaly, Facial diplegia, Peripheral demyelination	OMIM:205400
Sézary Syndrome	Hepatomegaly, Edema, Abnormal immunoglobulin level, Splenomegaly, Dry skin, Lymphadenopathy, Eryt...	ORPHA:3162
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Abnormality of the dentition, Inc...	OMIM:618282
Vasculitis, Lymphocytic, Nodular	Nodular inflammatory vasculitis	OMIM:192310
Catastrophic Antiphospholipid Syndrome	Myocardial infarction, Pulmonary embolism, Lupus anticoagulant, Abnormal jugular vein morphology,...	ORPHA:464343
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Bronchiec...	OMIM:619468
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Vasculitis, Skin rash	ORPHA:889
Mccune-Albright Syndrome	Gastroesophageal reflux, Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting,...	ORPHA:562
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, A...	ORPHA:247598
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Autoimmunity	OMIM:612227
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Thrombocyto...	ORPHA:99828
Interstitial Lung Disease 2	Increased circulating antibody level, Cirrhosis	OMIM:178500
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n...	OMIM:617872
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Ptosis, Proteinuria, Cataract, Recurrent skin...	ORPHA:33001
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Failure to thrive	ORPHA:172
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Immunodeficiency 10	Autoimmune hemolytic anemia, Recurrent infections, Lymphadenopathy, Recurrent bacterial infection...	OMIM:612783
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age	OMIM:601820
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fa...	ORPHA:95716
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria, Megaloblastic anemia	OMIM:261100
Reynolds Syndrome	Hepatomegaly, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, Infectious e...	ORPHA:779
Tyrosinemia Type 1	Splenomegaly, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Mevalonic Aciduria	Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele...	OMIM:610377
Relapsing Polychondritis	Uveitis, Large vessel vasculitis, Conjunctivitis, Chondritis, Glomerulopathy, Vertigo, Hepatitis,...	ORPHA:728
Nail-Patella Syndrome	Keratoconus, Renal insufficiency, Lester's sign, Proteinuria, Glomerulonephritis, Cataract, Bicep...	OMIM:161200
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Abnormal bleeding, Anemic pal...	ORPHA:86839
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Cocaine Intoxication	Prolonged QRS complex, Myocardial infarction, Hyperhidrosis, Bloody diarrhea, Tubulointerstitial ...	ORPHA:90068
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Abnormal lymphocyte proliferation, Recurrent viral infections, Sepsis, Elevat...	OMIM:619573
Localized Scleroderma	Skeletal muscle atrophy, Fasciitis, Abnormality of the kidney, Autoimmunity, Raynaud phenomenon, ...	ORPHA:90289
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Crackles, Nonproductive cough, Dyspnea, Increased circulating IgE level, Wheezing, ...	ORPHA:2902
Glycogen Storage Disease Xi	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia	OMIM:274240
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Immunodeficiency 83, Susceptibility To Viral Infections	Herpes simplex encephalitis, Meningitis	OMIM:613002
Pseudo-Torch Syndrome 3	Proteinuria, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Acute kid...	OMIM:618886
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Glycogen Storage Disease Due To Acid Maltase Deficiency	Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contracture, Oligosacchariduri...	ORPHA:365
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Myelin outfoldings, Onion bulb formation,...	OMIM:118200
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Cowden Syndrome 5	Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys...	OMIM:615108
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen...	OMIM:606483
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, BCGosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Hypogonadotropic hypogonadism, Dysuria, Abnormal pericardium ...	ORPHA:35687
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel...	OMIM:614895
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Cerebral vasculitis, Leukocytosis, Cerebral edema, Anterior open-bite malocclusion,...	ORPHA:83601
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Cervical...	OMIM:142680
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration...	OMIM:620378
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:145900
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Entropion, Elevated hepa...	ORPHA:36426
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Neutropenia, Bronchiectasis, Chronic diarrhea, Decreased circulating antibod...	OMIM:601495
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Abnormal cir...	ORPHA:101330
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pyloric stenosis, Jaundice, Hepatitis, Pe...	ORPHA:381
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis	OMIM:614480
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas	OMIM:134610
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephritis, Aminoa...	ORPHA:91500
Cowden Syndrome 6	Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys...	OMIM:615109
L-2-Hydroxyglutaric Aciduria	Infectious encephalitis	ORPHA:79314
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, High, narrow palate, Ga...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, High, narrow palate, Ga...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, High, narrow palate, Ga...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Lymphedema, High, narrow palate, Ga...	ORPHA:881
Gamma-Heavy Chain Disease	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmunity, Autoim...	ORPHA:100026
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d...	OMIM:231530
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrom...	OMIM:215250
Variant Abeta2M Amyloidosis	Intestinal perforation, Abnormal vascular morphology, Chronic kidney disease, Abnormality of the ...	ORPHA:314652
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu...	ORPHA:63
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Uric acid nep...	ORPHA:411536
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Edema, Goiter, Autoimmune...	ORPHA:90673
Buerger Disease	Vasculitis	ORPHA:36258
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency, Palmoplantar hyperkeratosis	ORPHA:2364
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se...	OMIM:617056
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Epicanthus, Congenital diaphrag...	OMIM:194080
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope...	OMIM:619991
Glycogen Storage Disease V	Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:232600
Tick-Borne Encephalitis	Skeletal muscle atrophy, Leukopenia, Increased circulating IgG level, Vomiting, Nausea, Delirium,...	ORPHA:297
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-f...	ORPHA:420741
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers...	ORPHA:358
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Oral-pharyngeal dysphagia, Xerostomia, Gastrointestinal inflammation, Conjunctivitis, Neutropenia...	ORPHA:95455
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht...	OMIM:619113
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Optic atrophy, Skeletal muscle steatosis, R...	ORPHA:436271
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:95513
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Ataxia, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall muscula...	ORPHA:834
Sea-Blue Histiocyte Disease	Splenomegaly, Cirrhosis, Absent axillary hair, Sea-blue histiocytosis, Thrombocytopenia	OMIM:269600
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Arthropathy, Dental crowding, Eosinophilia, Craniosynostosis, Eczema, Keratitis, Increased circul...	OMIM:618523
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating ...	ORPHA:95512
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Nocardiosis	Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, P...	ORPHA:31204
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Increased circulating IgE ...	OMIM:147060
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Proteinuria, Ataxia, Subcutaneous hemorrhage, Macrothrombocytopenia, Aminoa...	OMIM:603585
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ...	OMIM:618213
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant...	ORPHA:90283
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Entropion, Elevated hepa...	ORPHA:537
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Weight loss, Hepatomegaly	ORPHA:79238
Megabladder, Congenital	Multiple glomerular cysts, Patent ductus arteriosus, Stage 5 chronic kidney disease, Fetal megacy...	OMIM:618719
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Cryptorchidism, Obesity, Thick eyebrow	OMIM:309585
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Hypertrophic nerve changes, Onion bulb fo...	OMIM:180800
Nephronophthisis 16	Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Polycystic kidney ...	OMIM:615382
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Viral encephalitis	OMIM:619441
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop...	OMIM:214400
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Lymphadenitis, Decreased activity of NADPH oxidase, Granulomatosis, Hepatomegaly, ...	OMIM:306400
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals...	OMIM:118210
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Neonatal hyperbilirubinemia, Delayed cranial suture ...	ORPHA:90674
Sandhoff Disease	Splenomegaly, Recurrent respiratory infections, Hepatomegaly	ORPHA:796
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respi...	OMIM:618278
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Abnormal liver sonography, Autoimmune antibody positi...	ORPHA:90003
Nipah Virus Disease	Recurrent pharyngitis, Infectious encephalitis	ORPHA:99825
Cinca Syndrome	Papilledema, Skin rash, Eosinophilia, Leukocytosis, Uveitis, Lymphadenopathy, Hepatosplenomegaly,...	OMIM:607115
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:118220
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Niemann-Pick Disease, Type B	Recurrent respiratory infections, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocyto...	OMIM:607616
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Hepatic fibrosis, Atrial septal defect, Microdontia, Decreased circulat...	OMIM:620005
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Increased circulating IgE level, Recurrent pneumonia, Coarctation of aorta, Hypertension	OMIM:616069
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:301050
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Sparse eyelashes, Ventricular septal defect, Absent eyelashes, Patent ductus arterio...	OMIM:106260
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Cataract, Asplenia, Iridocyclit...	OMIM:240300
Meningococcal Meningitis	Papilledema, Renal insufficiency, Skin rash, Sepsis, Infectious encephalitis	ORPHA:33475
Fabry Disease	Renal insufficiency, Proteinuria, Corneal dystrophy, Myocardial infarction, Angina pectoris, Tran...	OMIM:301500
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	OMIM:608068
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Arteria lusoria, Protruding ear, Gastroesophageal reflux, Recurrent aspiration pneumonia, Psorias...	ORPHA:221139
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Pierson Syndrome	Diffuse mesangial sclerosis, Skeletal muscle atrophy, Rieger anomaly, Cataract, Proteinuria, Hypo...	OMIM:609049
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ...	OMIM:616576
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Increased hepatocellular lipid droplets, Se...	OMIM:220110
Immunodeficiency 42	Hepatomegaly, Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thy...	OMIM:616622
Ataxia-Telangiectasia	Conjunctival telangiectasia, Lymphopenia, Diabetes mellitus, Female hypogonadism, Sinusitis, Elev...	OMIM:208900
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Gastrointestinal hemorrhage, Proteinuria, Skin...	ORPHA:761
Acrorenal Syndrome	Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia	ORPHA:971
Dermatitis, Atopic	Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, C...	OMIM:603165
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Increased circulating antibod...	ORPHA:48104
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Spondyloepiphyseal Dysplasia Tarda	Increased inflammatory response, Osteoarthritis of the distal interphalangeal joint, Autoimmunity...	ORPHA:93284
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati...	ORPHA:231222
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Onion bulb formation, Peripheral demyelination, Axonal regeneration	OMIM:615185
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Autoimmunity, Raynaud phenomenon, Mediastinal lymphadenopathy, A...	ORPHA:79128
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Intellectual Developmental Disorder, X-Linked 97	Synophrys, Obesity	OMIM:300803
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis, Increa...	OMIM:127550
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Leigh Syndrome	CNS demyelination, Optic atrophy, Hepatocellular necrosis	OMIM:256000
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduri...	ORPHA:26791
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Abnormal ...	ORPHA:2968
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:614878
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Diabetes mellitus, Telangiectasia of the skin, Abnormality ...	ORPHA:542592
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidis...	OMIM:618183
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Autoimmune antibody positivity, Elevated circulating...	ORPHA:99832
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Ventricular septa...	OMIM:613404
Mogs-Cdg	Atrial septal defect, Generalized edema, Pulmonary edema, Left ventricular hypertrophy, Hepatomeg...	ORPHA:79330
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Gastrointestinal hemorrhage, Pericarditis, Angina pectoris, Auto...	ORPHA:93672
Melas	Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Vomiting, Nephropathy, Hypothyroidism, ...	ORPHA:550
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatic steatosis, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, ...	OMIM:619013
Cogan Syndrome	Episcleritis, Aortic regurgitation, Abnormal vestibular function, Keratitis, Leukocytosis, Vascul...	ORPHA:1467
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Lymphadenopat...	ORPHA:2221
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Autoimmunity, Splenomegaly, Lymphadenopathy	ORPHA:56425
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hypoparathyroidis...	ORPHA:199299
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Hemolytic anemia, Renal insufficiency, Reticulocytosis, Proteinuria, Pancytopeni...	ORPHA:447
Gray Platelet Syndrome	Splenomegaly, Myelodysplasia, Thrombocytopenia	ORPHA:721
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Prolonged bleeding time, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leuko...	ORPHA:3226
Immunodeficiency 40	Hepatomegaly, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Interstitial pneumo...	OMIM:616433
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Axonal loss, Clusters of axonal regeneration, Chronic axonal neur...	ORPHA:101097
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
Galactosemia Iii	Splenomegaly, Jaundice, Failure to thrive, Hepatomegaly	OMIM:230350
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced myoglobinuria, H...	OMIM:201475
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased...	OMIM:275350
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Decreased number of peripheral myelinated nerve fibers, Elev...	OMIM:256810
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Ménétrier Disease	Gastrointestinal hemorrhage, Nausea, Abnormal gastric mucosa morphology, Diarrhea, Multiple gastr...	ORPHA:2494
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati...	ORPHA:324964
Multiple Sulfatase Deficiency	Hepatomegaly, Splenomegaly, Mucopolysacchariduria, CNS demyelination, Peripheral demyelination	OMIM:272200
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat...	OMIM:613070
Hennekam Syndrome	Abnormal oral mucosa morphology, Ectopic kidney, Lymphedema, Hydrops fetalis, Short philtrum, Hyp...	ORPHA:2136
Peroxisome Biogenesis Disorder 8B	Peripheral demyelination, Optic atrophy, Decreased liver function, Leukodystrophy	OMIM:614877
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Cytoplasmic antineutrophil antib...	OMIM:608710
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Large for gestational age	OMIM:256450
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Leukocytosis, Spleni...	OMIM:603903
Immunodeficiency 12	Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,...	OMIM:615468
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Recurrent Haemophilus influenzae infections	OMIM:300455
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Syndromic X-Linked Intellectual Disability 7	Cryptorchidism, Sparse body hair, Obesity	ORPHA:85274
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Peripheral demyelination, CNS demyelination, Urinary incontinence	OMIM:249900
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Progressive neurologic deterioration, Flexion contracture, Microcornea, ...	ORPHA:90324
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Lessel-Kubisch Syndrome	Renal insufficiency, Renal hypoplasia	OMIM:618681
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T4 concentration, Increased circulating thyroglobulin level, Increased...	OMIM:188570
Congenital Analbuminemia	Edema, Facial edema, Hyperlipidemia, Pedal edema, Increased alpha-globulin, Increased circulating...	ORPHA:86816
Complement Component 4B Deficiency	Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin...	OMIM:614379
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea...	ORPHA:247585
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation	OMIM:182815
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de...	OMIM:608340
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s...	ORPHA:347
Trichothiodystrophy	Congenital exfoliative erythroderma, Multiple joint contractures, Gait ataxia, Microcornea, Protr...	ORPHA:33364
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Edema, Cryptorchidism, Thrombocytopenia, Diarrhea, Elevated circulating creatinine ...	OMIM:608104
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Meningitis, Optic atrophy, Unusual CNS infection, Incr...	ORPHA:447788
Majeed Syndrome	Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Congenita...	ORPHA:77297
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Gout, Hy...	ORPHA:3467
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Wilson Disease	Decreased circulating ceruloplasmin concentration, Edema, Osteoarthritis, Pedal edema, Aminoacidu...	OMIM:277900
Lyme Disease	Atrioventricular block, Uveitis, Arthritis, Joint swelling, Arrhythmia, Infectious encephalitis	ORPHA:91546
Gaucher Disease	Joint dislocation, Elevated circulating C-reactive protein concentration, Osteoarthritis, Hydrops...	ORPHA:355
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,...	OMIM:611762
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Crouzon Syndrome	Ptosis, Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Conjunctivitis, Conductive ...	ORPHA:207
Lead Poisoning	Delayed eruption of teeth, Decreased HDL cholesterol concentration, Abnormal sperm morphology, Sk...	ORPHA:330015
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ...	ORPHA:699
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital...	OMIM:202010
Hepatitis, Fulminant Viral, Susceptibility To	Hepatomegaly, Nausea, Jaundice, Fulminant hepatitis, Gingival bleeding, Type I diabetes mellitus,...	OMIM:618549
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Lymphedema, Periorbital edema, Rectal prolapse, Conical incisor, Oligodontia, Hyp...	OMIM:235510
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal bleeding, Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia, Generalized edema	OMIM:207731
Goodpasture Syndrome	Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul...	OMIM:233450
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach...	ORPHA:83469
Obesity And Hypopigmentation	Red hair, Overgrowth, Hepatic steatosis, Obesity	OMIM:620195
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Posteriorly rotated ears, Keratitis, Synophrys, Microtia, Conjunctivitis, Recurr...	OMIM:602562
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Ja...	ORPHA:1667
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elev...	OMIM:613327
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Pancytopenia, Proteinuria, Abnormal heart valve morphol...	ORPHA:77261
Bone Marrow Failure Syndrome 4	Eczema, Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Th...	OMIM:618116
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Alkaptonuria	Joint dislocation, Mitral valve calcification, Abnormal heart valve morphology, Coronary artery c...	ORPHA:56
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Yao Syndrome	Ventricular hypertrophy, Inflammatory abnormality of the skin, Pericarditis, Skin rash, Diarrhea,...	OMIM:617321
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Unconjugated hyperbili...	OMIM:300908
Ataxia-Telangiectasia	Elevated hepatic transaminase, Skeletal muscle atrophy, Hypopigmentation of hair, Telangiectasia ...	ORPHA:100
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Telangiectasia of the skin, Abnormal pericardium...	ORPHA:679
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Simplified gyral pattern, T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Mi...	OMIM:615966
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure...	OMIM:269920
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypertensive retinopathy, Proteinuria, Pulsatile tinnitus, Cerebral hemorrhage, Elevated urinary ...	ORPHA:276621
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Hyperuricemia, Ve...	ORPHA:261222
Japanese Encephalitis	Hyponatremia, Neutrophilia, Genu recurvatum, Diarrhea, Elbow flexion contracture, Increased circu...	ORPHA:79139
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Hypertrophic nerve changes, Onion bulb formation, Segmental peripheral demyelination/remyelination	OMIM:601098
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Rasmussen Subacute Encephalitis	Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo...	ORPHA:1929
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elb...	OMIM:604416
Coenzyme Q10 Deficiency, Primary, 8	Peripheral demyelination, Renal dysplasia, Abnormal renal corticomedullary differentiation	OMIM:616733
Alveolar Echinococcosis	Liver abscess, Abnormal pericardium morphology, Eosinophilia, Cholangitis, Pancreatic cysts, Port...	ORPHA:284
Macrocephaly/Autism Syndrome	Hepatomegaly, Dilation of Virchow-Robin spaces, Penile freckling, Splenomegaly, Decreased circula...	OMIM:605309
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Arthritis, Joint swelling, Chondrocalcinosis	ORPHA:1416
Vici Syndrome	Elevated circulating creatine kinase concentration, Leukopenia, T lymphocytopenia, Abnormal thymu...	OMIM:242840
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Atrial septal defect, Hypospadias, ...	ORPHA:209905
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal a...	OMIM:612541
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Osteoarthritis, Joint swelling, Arthritis	ORPHA:1525
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Neph...	ORPHA:324
Holocarboxylase Synthetase Deficiency	Ataxia, Eczema, Keratoconjunctivitis, Organic aciduria, Thrombocytopenia, Perioral eczema	ORPHA:79242
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe...	OMIM:601596
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol...	ORPHA:97362
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone exc...	ORPHA:100083
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr...	OMIM:619693
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathy...	ORPHA:231226
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination	OMIM:250850
Immunodeficiency 54	Recurrent respiratory infections, Hepatomegaly, Recurrent viral infections, Splenomegaly, Lymphad...	OMIM:609981
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination	OMIM:607791
Mucoepithelial Dysplasia, Hereditary	Cataract, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic diarrhea, Cor pulmonale, Chronic ...	OMIM:158310
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:609152
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Leukodystrophy	DECIPHER:59
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ...	OMIM:617021
Congenital Disorder Of Glycosylation, Type Ib	Abnormal bleeding, Hepatomegaly, Villous atrophy, Edema, Diarrhea, Renal cyst, Steatorrhea, Proxi...	OMIM:602579
Tenosynovial Giant Cell Tumor	Abnormality of the knee, Lymphedema, Polyarticular arthropathy, Abnormality of the elbow, Joint s...	ORPHA:66627
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Osteoarthritis, Joint swel...	OMIM:208230
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Prolonged QRS complex, Cardiomegaly, Atriovent...	ORPHA:75565
Mannosidosis, Beta A, Lysosomal	Increased urinary disaccharide excretion, Tortuosity of conjunctival vessels, Hearing impairment	OMIM:248510
Pendred Syndrome	Increased circulating thyroglobulin level, Compensated hypothyroidism, Thyroid carcinoma, Goiter	OMIM:274600
Subacute Cutaneous Lupus Erythematosus	Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit...	ORPHA:163525
Hartnup Disease	Skin rash, Abnormal urinary color, Infectious encephalitis, Neutral hyperaminoaciduria	ORPHA:2116
Syndromic Diarrhea	Villous atrophy, Bicuspid aortic valve, Bloody diarrhea, Abnormality of the liver, Colitis, Hypop...	ORPHA:84064
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Myocardial infarction, Bowel incont...	ORPHA:330001
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Diarrhea, Increased urinary porphobilinogen, H...	OMIM:121300
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Gout	ORPHA:510
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Proteinuria, Raynaud phenomenon, Micr...	OMIM:192315
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Posterior Column Ataxia With Retinitis Pigmentosa	Peripheral demyelination, Recurrent urinary tract infections, Optic atrophy, Urinary incontinence	OMIM:609033
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased...	OMIM:618061
Dyskeratosis Congenita, X-Linked	Reticulated skin pigmentation, Hyperhidrosis, Premature graying of hair, Leukopenia, Conjunctivit...	OMIM:305000
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration	OMIM:607731
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr...	ORPHA:508533
Molybdenum Cofactor Deficiency, Complementation Group A	Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Xanthine nephrolithiasis, S...	OMIM:252150
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Portal fibro...	ORPHA:369
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Onion bulb formation, Peripheral demyelination	OMIM:618279
Anaplastic Thyroid Carcinoma	Tracheoesophageal fistula, Lymphadenopathy, Anaplastic thyroid carcinoma, Dysphagia, Nodular goit...	ORPHA:142
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination	OMIM:608236
Xq28 (MECP2) duplication	Functional abnormality of the bladder, Dysphagia, Constipation, Gastroesophageal reflux, Narrow m...	DECIPHER:45
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration	OMIM:607677
22Q11.2 Deletion Syndrome	Impaired T cell function, Polyhydramnios, Abnormal aortic arch morphology, Hypoplasia of the thym...	ORPHA:567
Acromegaly	Osteoarthritis, Wide penis, Hyperhidrosis, Widely spaced teeth, Pituitary prolactin cell adenoma,...	ORPHA:963
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:614162
Trichinellosis	Skin rash, Facial palsy, Confusion, Vertigo, Increased circulating IgE level, Central retinal art...	ORPHA:863
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Autoimmunity, Splenomegaly, Jau...	ORPHA:90033
Null Syndrome	Optic atrophy, Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination	ORPHA:280234
Familial Cold Urticaria	Dysesthesia, Sensorineural hearing impairment, Hyperhidrosis, Arthritis, Conjunctivitis	ORPHA:47045
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Autoimmunity, Insulin-resist...	ORPHA:79086
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Maculopapul...	ORPHA:398124
Metachromatic Leukodystrophy	Urinary incontinence, Reduced leukocyte arylsulfatase A activity, Optic atrophy, Gallbladder dysf...	OMIM:250100
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i...	OMIM:232800
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Abnorma...	OMIM:275000
Chronic Inflammatory Demyelinating Polyneuropathy	Peripheral demyelination, Segmental peripheral demyelination/remyelination	ORPHA:2932
Cinca Syndrome	Joint dislocation, Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive prot...	ORPHA:1451
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Onion bul...	OMIM:607706
Alstrom Syndrome	Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h...	OMIM:203800
Congenital Disorder Of Glycosylation, Type Ig	Thin upper lip vermilion, Hypospadias, Edema, Polyhydramnios, Cryptorchidism, Patent ductus arter...	OMIM:607143
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methionine synthase activity, Renal insufficiency, Proteinuria, Confusion, Megaloblasti...	OMIM:277400
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel...	OMIM:609311
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphoma, Weight loss, Lymphadenopathy, Neoplasm, Bone marrow hypocel...	ORPHA:391
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Calcinosis, Cataract, Decreased response to growth hormone stimulation tes...	ORPHA:79443
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo...	ORPHA:26793
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute demyelinating polyneuropathy, Onion bulb formation	ORPHA:98916
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Malabsor...	ORPHA:98850
Panner Disease	Limited elbow movement, Abnormality of upper limb joint, Irregular articular surfaces of the elbo...	ORPHA:97336
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Ataxia, Splenomegaly, Sensorineural hearing impairment, Schistocytosis, Hyp...	OMIM:616084
Melioidosis	Shock, Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of ...	ORPHA:31202
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Recurrent urinary tract infections, Abnormal hemoglobin, Abnormality of the ...	ORPHA:847
Peripartum Cardiomyopathy	Ventricular tachycardia, Pedal edema, Increased circulating interferon-gamma concentration, Right...	ORPHA:563
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Peripheral axonal atrophy,...	OMIM:609260
Hereditary Pheochromocytoma-Paraganglioma	Hypertensive retinopathy, Episodic hyperhidrosis, Cranial nerve compression, Positive regitine bl...	ORPHA:29072
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Abnormal blee...	ORPHA:480520
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Jaundice, Recurrent infectio...	ORPHA:108
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy	OMIM:608673
Poems Syndrome	Diabetes mellitus, Polycythemia, Edema, Abnormality of the endocrine system, Pericardial effusion...	ORPHA:2905
Bloom Syndrome	Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decreased circulating IgG level, ...	ORPHA:125
Familial Afibrinogenemia	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding	ORPHA:98880
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Peripheral demyelination, Axonal loss, Urinary incontinence	OMIM:221770
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology	OMIM:605253
Proteus Syndrome	Splenomegaly, Depigmentation/hyperpigmentation of skin, Limbal dermoid, Lymphangioma, Downslanted...	OMIM:176920
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Cockayne Syndrome	Skeletal muscle atrophy, Urinary incontinence, Progressive gait ataxia, Retinal arteriolar constr...	ORPHA:191
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Gout, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute ki...	ORPHA:79233
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Peripheral demyelination, Axonal degeneration/regeneration	OMIM:607736
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Hepatic necrosis, De...	ORPHA:71212
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:604563
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency	ORPHA:254857
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy...	ORPHA:71526
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Tented upper lip vermilion, High, narrow palate, Renal cyst, Nephrocalcinosis, Downturned corners...	ORPHA:369837
Charcot-Marie-Tooth Disease Type 4G	Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy	ORPHA:99953
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Calcinosis, Cataract, Decreased response to growth hormone stimulation tes...	ORPHA:94089
Familial Cold Autoinflammatory Syndrome 3	Allergic rhinitis, Antinuclear antibody positivity, Angioedema, Erythema, Presyncope, Recurrent o...	OMIM:614468
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kid...	ORPHA:54251
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Cockayne Syndrome Type 2	Hepatomegaly, Ataxia, Hypermelanotic macule, Cryptorchidism, Flexion contracture, Uveitis, Develo...	ORPHA:90322
Wells Syndrome	Vasculitis, Eosinophilia	ORPHA:901
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Abnormal bleeding, Proteinuri...	OMIM:232200
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Failure to thrive, Ne...	ORPHA:79301
Porphyria, Congenital Erythropoietic	Absent eyebrow, Hemolytic anemia, Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Jaun...	OMIM:263700
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper...	ORPHA:713
Monosomy 18Q	Bilateral cryptorchidism, Secundum atrial septal defect, Downturned corners of mouth, High palate...	ORPHA:1600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Hypouricemia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Hypoph...	OMIM:616026
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Peripheral demyelination	OMIM:616684
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathyroidism, Hepat...	ORPHA:231214
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis	OMIM:314300
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co...	ORPHA:314769
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Mixed hearing impairment, Scapular winging, Lacrimal duct stenosis, Periorbital dermoid cyst, Cup...	OMIM:615560
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteomyelitis, Skin rash, Eosinophilia, Craniosynostosis, Abnormality ...	ORPHA:2314
Hyperuricemia, Hprt-Related	Renal insufficiency, Podagra, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog...	ORPHA:226313
Multiple Endocrine Neoplasia Type 2	Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochromocytoma, Pallor, Ganglion...	ORPHA:653
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Rec...	OMIM:214500
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Epicanthus, Sparse eyelashes, Proteinuria, Ventricular septal defect, Sparse eyebrow, Hematuria, ...	OMIM:616901
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin...	OMIM:214900
Caroli Disease	Liver abscess, Cholangitis, Hepatic fibrosis, Vomiting, Elevated gamma-glutamyltransferase level,...	ORPHA:53035
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp...	ORPHA:2260
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Thin upper lip vermilion, Ventricular septal defec...	OMIM:616651
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency	OMIM:620235
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Axonal degeneration, Peripheral hypomyelination, Peripheral demye...	OMIM:604168
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Splenomeg...	ORPHA:59303
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane...	OMIM:612301
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Rhiniti...	ORPHA:230
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Decreased muscle mass, Exercise-induced rhabdomyolysis, Reduced circulating ald...	ORPHA:57
Adult-Onset Nemaline Myopathy	Dilated cardiomyopathy, Paraproteinemia, Neuromuscular dysphagia, High palate, Mildly elevated cr...	ORPHA:171442
Poliomyelitis	Myelitis, Meningitis, Infectious encephalitis, Absent tonsils	ORPHA:2912
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Lymphadenopathy, Hematuria, Anemia, Neoplasm of the liver, Hyperte...	ORPHA:69077
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Pustule...	ORPHA:247353
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, Autoimmunity, Po...	ORPHA:436252
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Hyperkeratosis Lenticularis Perstans	Skin ulcer	ORPHA:409
Biotinidase Deficiency	Skin rash, Ataxia, Optic neuropathy, Sensorineural hearing impairment, Optic atrophy, Organic aci...	ORPHA:79241
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid...	OMIM:300653
Radiation Proctitis	Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, Hematochezia, Rectal...	ORPHA:70475
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Elev...	OMIM:613489
Classical Ehlers-Danlos Syndrome	Osteoarthritis, Rectal prolapse, Shoulder dislocation, Vomiting, Gastroesophageal reflux, Ecchymo...	ORPHA:287
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hyperammonemia, Dehydration, C...	ORPHA:79312
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Autoimmune Thyroid Disease, Susceptibility To, 3	Thyroiditis	OMIM:608175
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy, Chronic diarr...	OMIM:618805
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Tetralogy of Fallot, Hematuria, R...	OMIM:610205
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Spleno...	OMIM:602390
Linear Iga Dermatosis	Inflammation of the large intestine, Autoimmunity	ORPHA:46488
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation	OMIM:615035
Charcot-Marie-Tooth Disease Type 1F	Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Urinary incont...	ORPHA:101085
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Hyperlipidemia, Permanent ...	ORPHA:31825
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Neuropathy, Hereditary, With Liability To Pressure Palsies	Segmental peripheral demyelination/remyelination	OMIM:162500
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Inclusion Body Myositis	Autoimmunity, Elevated circulating creatine kinase concentration	ORPHA:611
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonadotropic cell ade...	ORPHA:652
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno...	OMIM:616828
Specific Granule Deficiency 2	Absent neutrophil specific granules, Recurrent pneumonia, Sepsis, Anemia, Recurrent bacterial inf...	OMIM:617475
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, High, narrow ...	OMIM:619472
Spinocerebellar Ataxia Type 43	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy	ORPHA:497764
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Perianal erythema, Impaired T cell function, Splenomegaly, Diarrhea, Hypogeusia, De...	OMIM:201100
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Chronic diarrhea, Abnormal heart morphology, Neph...	ORPHA:79327
Lamellar Ichthyosis	Renal insufficiency, Lack of skin elasticity, Hyperkeratosis, Erythroderma, Chronic otitis media,...	ORPHA:313
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Prelingual sensorineural hearing impairment, Recurrent ...	ORPHA:477
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Castleman Disease	Renal insufficiency, Increased circulating interleukin 6 concentration, Generalized lymphadenopat...	ORPHA:160
Osteochondritis Dissecans	Abnormality of the knee, Abnormal joint morphology, Joint swelling, Limited elbow flexion, Limite...	ORPHA:2764
Hepatoerythropoietic Porphyria	Abnormal bleeding, Recurrent bacterial skin infections, Hemolytic anemia, Abnormal circulating en...	ORPHA:95159
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec...	OMIM:154230
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r...	ORPHA:51636
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation	OMIM:618184
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Ataxia, Keratitis, Sensorineural hearing impairment, Telangiectasia, Choreoa...	OMIM:278730
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Edema, Malabsorption, Allerg...	ORPHA:2070
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Cardiomegaly, Congenital hypothyroidism, Colitis, Hypoalbuminemia	ORPHA:88643
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash	OMIM:609939
Gaucher Disease Type 2	Splenomegaly, Recurrent respiratory infections, Hepatomegaly	ORPHA:77260
Neuroleptic Malignant Syndrome	Urinary incontinence, Pulmonary embolism, Chorea, Hyperhidrosis, Vomiting, Aspiration pneumonia, ...	ORPHA:94093
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Intermittent Hydrarthrosis	Abnormality of the knee, Knee joint hypermobility, Joint swelling, Chondrocalcinosis	ORPHA:329967
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Peripheral demyelination	ORPHA:99944
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Xeroderma Pigmentosum, Complementation Group A	Entropion, Ataxia, Hypermelanotic macule, Keratitis, Sensorineural hearing impairment, Telangiect...	OMIM:278700
African Trypanosomiasis	Urinary incontinence, Impaired proprioception, Choreoathetosis, Conjunctivitis, Vomiting, Iritis,...	ORPHA:3385
Glutaric Aciduria Iii	Hyperthyroidism, Glutaric aciduria, Diarrhea, Hypertension, Vomiting, Goiter	OMIM:231690
Acute Promyelocytic Leukemia	Abnormal bleeding, Pancytopenia, Petechiae, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytope...	ORPHA:520
Brachydactylous Dwarfism, Mseleni Type	Increased inflammatory response, Autoimmunity, Knee osteoarthritis, Hip osteoarthritis, Osteoarth...	ORPHA:2619
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Obesity, Hirsutism	OMIM:184700
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Calcinosis, Cataract, Decreased response to growth hormone stimulation tes...	ORPHA:79444
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Foot osteomyelitis, Axonal degeneration/r...	OMIM:600882
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Intermediate Uveitis	Anterior uveitis, Cataract, Psoriasiform dermatitis, Band keratopathy, Vasculitis, Tubulointersti...	ORPHA:279914
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Axonal loss, Peripheral demyelination	OMIM:617672
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I...	OMIM:223900
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Chronic rhinitis, Hypoth...	OMIM:617577
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Arthritis	ORPHA:231
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Mohr-Tranebjaerg Syndrome	Abnormal vestibular function, Absent brainstem auditory responses, Sensorineural hearing impairme...	ORPHA:52368
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for...	OMIM:605588
Autosomal Dominant Progressive External Ophthalmoplegia	Diabetes mellitus, Hyperthyroidism, Elevated circulating creatine kinase concentration, Edema, Ga...	ORPHA:254892
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of ...	ORPHA:379
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Neurocutaneous Melanocytosis	Infectious encephalitis, Renal hypoplasia/aplasia	ORPHA:2481
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Netherton Syndrome	Skin rash, Eczema, Ectopic kidney, Malabsorption, Increased circulating IgE level, Dehydration, D...	ORPHA:634
Pseudoleprechaunism Syndrome, Patterson Type	Diabetes mellitus, Flat acetabular roof, Increased circulating androgen concentration, Genu valgu...	ORPHA:2976
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Patent ductus arteriosus, Sepsis, Anemia, Leukop...	OMIM:617053
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Uric acid nephrolithiasis, A...	ORPHA:411543
Aregenerative Anemia	Abnormal bleeding, Pancytopenia, Dyspnea, Erythroid hypoplasia, Thrombocytopenia, Reticulocytopen...	ORPHA:101096
Liddle Syndrome	Nephropathy, Renal insufficiency	ORPHA:526
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis	ORPHA:157991
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Unusual skin infection, Sinusitis, Pneumonia, Facial palsy, Pustule, Intrare...	ORPHA:68
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Increased mean corpu...	OMIM:194380
Relapsing Fever	Elevated hepatic transaminase, Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Thrombocy...	ORPHA:91547
Juvenile Arthritis	Antinuclear antibody positivity, Thrombocytosis, Leukocytosis	OMIM:618795
Arboleda-Tham Syndrome	Anteverted ears, Secundum atrial septal defect, Bilateral cryptorchidism, Conjunctivitis, Gastroe...	OMIM:616268
Familial Adenomatous Polyposis	Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno...	ORPHA:733
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia	OMIM:615996
Sjogren Syndrome	Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar...	OMIM:270150
Hereditary Orotic Aciduria	Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Patent ductus arteriosus, Abnor...	ORPHA:30
B4Galt1-Cdg	Abnormal bleeding, Thin upper lip vermilion, Hepatomegaly, Redundant neck skin, Inflammatory abno...	ORPHA:79332
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Hepatoblastoma, Spider hemangioma, Chronic pancre...	OMIM:232240
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Recurrent urinary tract infections, Sinusitis, Epicanthus, Autoimmun...	OMIM:251260
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri...	OMIM:227810
Usmani-Riazuddin Syndrome, Autosomal Recessive	Epicanthus, Posteriorly rotated ears, Low-set ears, Conjunctival hyperemia	OMIM:619548
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Onion bulb formation	OMIM:610100
Urban-Rogers-Meyer Syndrome	Epicanthus, Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Aplasia/Hypoplasia of t...	ORPHA:3409
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Nephroblastoma	Weight loss, Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy, Neoplasm, Nephroblastoma	ORPHA:654
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin, Malabsorption, Crypt...	ORPHA:99812
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers	ORPHA:2386
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Congestive heart fa...	ORPHA:367
Autosomal Dominant Epidermolytic Ichthyosis	Hyperkeratosis, Palmoplantar keratoderma, Skin ulcer, Erythroderma	ORPHA:312
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Autoimmunity, Myocardia...	ORPHA:221
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Congenital Erythropoietic Porphyria	Anisocytosis, Red-brown urine, Leukopenia, Erythroid hyperplasia, Hypopigmentation of the skin, P...	ORPHA:79277
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Decreased circulating IgG2 level, Sensorineural he...	ORPHA:1493
Ascher Syndrome	Upper eyelid edema, Abnormal upper lip morphology, High palate, Hypothyroidism, Goiter	ORPHA:1253
Dyskeratosis Congenita	Abnormality of neutrophils, Hyperhidrosis, Periodontitis, Skin vesicle, Hepatomegaly, Skin ulcer,...	ORPHA:1775
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Abnormality of the thyroid gland, Celiac disease, Primary adrenal insufficien...	ORPHA:3143
Sinding-Larsen-Johansson Disease	Joint swelling, Osteochondrosis, Limitation of knee mobility	ORPHA:97337
Thyroid Dyshormonogenesis 1	Macroglossia, Constipation, Dry skin, Hypothyroidism, Goiter	OMIM:274400
Hepatic Veno-Occlusive Disease	Renal insufficiency	ORPHA:890
Cutaneous Mastocytoma	Maculopapular exanthema, Telangiectasia of the skin, Angioedema, Erythema, Diarrhea, Lymphadenopa...	ORPHA:79455
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Spinocerebellar Ataxia Type 25	Urinary urgency, Decreased number of large peripheral myelinated nerve fibers	ORPHA:101111
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T...	OMIM:251000
Adult Polyglucosan Body Disease	Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence, Skin ulcer	ORPHA:206583
Medullary Thyroid Carcinoma	Neoplasm of the skeletal system, Primary hyperparathyroidism, Abnormal liver parenchyma morpholog...	ORPHA:1332
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-uremic syndrome, ...	ORPHA:79282
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Truncal obesity, Obesity, Large for gestational age	OMIM:240900
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Cerebral dysmyelination, Portal hypertension, Dysmyelinating leukodystrophy, Hepatosplenomegaly, ...	OMIM:609136
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomegaly, Abnorma...	ORPHA:1046
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Absence of renal corticom...	OMIM:120330
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Aminoaciduria, Lacticaciduria, Pancreatitis	OMIM:619386
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Increased variability in muscle fiber...	OMIM:125250
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Angina pectoris, Elevated ...	ORPHA:565612
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:90051
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer	ORPHA:2218
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Anuria, Edema, Intestinal perforation, Secreto...	ORPHA:544482
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Lipoma Of The Conjunctiva	Conjunctival lipoma	OMIM:151700
Acrogeria	Excessive wrinkled skin, Thin skin, Skin ulcer	ORPHA:2500
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ...	OMIM:605285
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Maculo...	ORPHA:822
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Abnormal bleeding, Ventricular septal...	ORPHA:79329
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality...	ORPHA:1834
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme...	OMIM:146255
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise...	ORPHA:368
H Syndrome	Microcytic anemia, Micropenis, Psoriasiform dermatitis, Abnormality of the kidney, Cleft upper li...	ORPHA:168569
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Elevated hepatic transaminase, Sensorineural hearing impairment, Conjunctivitis, Ele...	OMIM:242150
Pemphigus Erythematosus	Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Digeorge Syndrome	Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology...	OMIM:188400
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Gastrointestinal inflammation, Iron deficiency anemia, Gastroesophageal reflu...	ORPHA:79408
Overlap Myositis	Elevated hepatic transaminase, Autoimmunity, Abnormality of the kidney, Antinuclear antibody posi...	ORPHA:206572
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Scleromyxedema	Abnormal coronary artery morphology, Abnormality of thyroid physiology, Elevated circulating crea...	ORPHA:167635
Pendred Syndrome	Hyperparathyroidism, Thyroid carcinoma, Nephropathy, Hypothyroidism, Goiter	ORPHA:705
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Epicanthus, Hypospadias, Cryptorchidism, Decreased circulating antibody level, Agammaglobulinemia...	OMIM:616910
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Abnormality of the dentition, Cardiomyopathy, H...	OMIM:613752
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Folliculitis, Conjunctivitis, Ble...	OMIM:308800
Nail-Patella Syndrome	Decreased muscle mass, Impaired temperature sensation, Flexion contracture, Knee flexion contract...	ORPHA:2614
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Hepatic fibrosis, Vomiting, Hepatic steatosis...	ORPHA:264580
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Thyroid Dyshormonogenesis 2A	Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific...	OMIM:274500
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Proteinuria, Angular cheiliti...	ORPHA:35858
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Thin skin, Skin ulcer, Purpura	ORPHA:743
Cystinosis	Renal insufficiency, Proteinuria, Corneal opacity, Portal hypertension, Renal tubular dysfunction...	ORPHA:213
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Proteinuria, Hearing impairment, Blepharophimosis, Cryptorchidism, Heart mu...	ORPHA:2728
Diffuse Neonatal Hemangiomatosis	Patent ductus arteriosus, Renal insufficiency, Renal hypoplasia/aplasia	ORPHA:2123
Graft Versus Host Disease	Fasciitis, Myositis, Limited elbow movement, Oral ulcer, Gastrointestinal inflammation, Vomiting,...	ORPHA:39812
Antisynthetase Syndrome	Aortic regurgitation, Myositis, Skin rash, Autoimmunity, Telangiectasia of the skin, Myocarditis,...	ORPHA:81
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Adult-Onset Autosomal Dominant Leukodystrophy	Flexion contracture, Impaired proprioception, Dysmetria, Gait ataxia, Aspiration pneumonia, Ataxi...	ORPHA:99027
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Splenomegaly, Delayed myelination, Vacuolated lymphocytes, Decreased circulating an...	OMIM:248500
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Eosinophilia, Familial	Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Anemia	OMIM:131400
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Cryptorchidism, Thrombocytopenia, Wide mouth, Long philtrum, Open mouth...	OMIM:616638
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Orthostatic Hypotension 1	Hypomagnesemia, Nocturia, Increased blood urea nitrogen	OMIM:223360
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Cryptococcosis	Lymphoid leukemia, Osteomyelitis, Autoimmunity, Pneumonia, Mediastinal lymphadenopathy, Peritonit...	ORPHA:1546
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Lower limb muscle weakness, Microcytic anemia, Limb-girdle muscle weakne...	OMIM:251900
Recessive Mitochondrial Ataxia Syndrome	Increased serum pyruvate, ST segment elevation, Hashimoto thyroiditis, Dysphagia	ORPHA:94125
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Abnormality of the urinary system, Abnormality of neuronal migration, Hepatomegaly	ORPHA:2204
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Peripheral hypomyelination	OMIM:616287
Neuronal Intestinal Pseudoobstruction	Patent ductus arteriosus, Decreased circulating antibody level	ORPHA:99811
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Skeletal muscle atrophy, Bilateral ptosis, Rhabdomyolysis, Leukopenia, Myop...	OMIM:255125
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Sepsis, Leukopenia, Increased circulating antibody level, Lymphope...	ORPHA:319218
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M...	OMIM:615508
Plasminogen Deficiency, Type I	Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis	OMIM:217090
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Lymphadenopathy, Pr...	ORPHA:79477
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Jaundice, Diarrhea, Lymphadenopathy, Anemia, Ascites, Thrombocytopenia	ORPHA:858
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi...	ORPHA:226316
Abetalipoproteinemia	Impaired distal proprioception, Cardiomegaly, Impaired proprioception, Dysmetria, Gait ataxia, He...	ORPHA:14
Popliteal Cyst	Abnormality of the knee, Joint swelling	OMIM:175750
Donnai-Barrow Syndrome	Proteinuria, Posteriorly rotated ears, Congenital diaphragmatic hernia, Ventricular septal defect...	ORPHA:2143
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Progressive neurologic det...	ORPHA:263455
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Folliculitis, Conjunctivitis, Blepharitis	OMIM:612843
Bloom Syndrome	Elevated hemoglobin A1c, Cryptorchidism, Bronchiectasis, Agenesis of maxillary lateral incisor, F...	OMIM:210900
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Epicanthus, Increased circulating lactate dehydrogenase concentr...	OMIM:611881
Niemann-Pick Disease, Type A	Recurrent respiratory infections, Hepatomegaly, Elevated circulating aspartate aminotransferase c...	OMIM:257200
Takayasu Arteritis	Arteritis	OMIM:207600
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epit...	ORPHA:157
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Anti-thyroid peroxidase antibody positivity, Elevated circulating thyroid-stimulating hormone con...	OMIM:610199
Cyclic Neutropenia	Premature loss of permanent teeth, Sinusitis, Recurrent skin infections, Cyclic neutropenia, Peri...	ORPHA:2686
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Cachexia, Splenomegaly, Hamartomatous polyposis, Aplasia/Hypoplasia of th...	ORPHA:2930
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria...	OMIM:256100
Malakoplakia	Abnormal bleeding, Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Follicu...	ORPHA:556
Dubowitz Syndrome	Delayed eruption of teeth, Hypospadias, Aplastic anemia, Eczema, Carious teeth, Cryptorchidism, V...	OMIM:223370
Retinitis Pigmentosa 59	Renal insufficiency, Micropenis	OMIM:613861
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Pallor, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Leukocytosis, Ly...	ORPHA:98849
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Cataract, Hypothyroidism, Renal cyst, Nephroc...	ORPHA:445038
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Herpes simplex encephalitis, Recurrent aphthous stomatitis	OMIM:614850
Familial Partial Lipodystrophy, Dunnigan Type	Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Glomerulopathy, Splenom...	ORPHA:2348
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,...	ORPHA:811
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra...	OMIM:613239
Genetic Recurrent Myoglobinuria	Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Elevated hepa...	ORPHA:99845
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Cataract, Proteinuria, Hypoperistalsis, Keratitis, Sensorineural hearing impairment, Chronic kidn...	ORPHA:1018
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Autoimmunity, Malabsorption, Carious teeth, Cong...	ORPHA:220393
Good Syndrome	Abnormal leukocyte morphology, Recurrent urinary tract infections, Diabetes mellitus, Sinusitis, ...	ORPHA:169105
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei...	ORPHA:90796
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Cortisone Reductase Deficiency 1	Alopecia, Obesity, Hirsutism	OMIM:604931
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Hypospadias, Cryptorchidism, Wide mouth, Long philtrum, Open mouth, Intestin...	ORPHA:457485
Netherton Syndrome	Recurrent respiratory infections, Increased circulating IgE level, Hypereosinophilia, Sepsis, Dec...	OMIM:256500
Brooke-Spiegler Syndrome	Abnormal bleeding, Salivary gland neoplasm, Skin ulcer, Abnormality of the sublingual glands, Abn...	ORPHA:79493
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ...	ORPHA:90037
Temporal Arteritis	Retinal arteritis	OMIM:187360
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism	OMIM:228355
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Edema, Portal hypertension, Diarrhea, Protein-losing e...	ORPHA:79319
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Elliptocytosis, Abnor...	ORPHA:86818
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Cataract, Proteinuria, Abnormality of retinal pigmentation, ...	ORPHA:2715
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Tenorio Syndrome	Telecanthus, Raynaud phenomenon, Recurrent pneumonia, Enuresis, Keratoconjunctivitis sicca, Synco...	OMIM:616260
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
De Sanctis-Cacchione Syndrome	Entropion, Ataxia, Hypermelanotic macule, Keratitis, Bilateral cryptorchidism, Sensorineural hear...	OMIM:278800
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:214
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Craniosynostosis, Oral mucosal blisters, Erythema, Decreased circulati...	ORPHA:79396
Martin-Probst Syndrome	Renal insufficiency, Epicanthus, Proteinuria, Telecanthus, Pancytopenia, Cryptorchidism, Sensorin...	OMIM:300519
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Onion bulb formation, Facial palsy	OMIM:607684
Secondary Non-Traumatic Avascular Necrosis	Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Dural Sinus Malformation	Papilledema, Somatic sensory dysfunction, Ataxia, Pulsatile tinnitus, Cerebral hemorrhage, Subara...	ORPHA:97339
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemi...	ORPHA:97289
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Malaria	Acute kidney injury	ORPHA:673
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration, Osteomyelitis, Urinary incontinence	OMIM:613115
Summitt Syndrome	Obesity	OMIM:272350
Abetalipoproteinemia	CNS demyelination, Peripheral demyelination, Acanthocytosis	OMIM:200100
Molybdenum Cofactor Deficiency, Complementation Group B	Molybdenum cofactor deficiency, Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthi...	OMIM:252160
Smith-Lemli-Opitz Syndrome	Dental crowding, Renal cyst, Hypoalbuminemia, Vomiting, Gastroesophageal reflux, Hypocholesterole...	OMIM:270400
Calciphylaxis	Stage 5 chronic kidney disease, Skin ulcer	ORPHA:280062
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Conjunctivitis, Absent eyebrow, Abnormality of the kidney, A...	ORPHA:2273
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Skin rash, Autoimmunity, System...	ORPHA:90036
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Maffucci Syndrome	Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo...	ORPHA:163634
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection...	ORPHA:2970
Incontinentia Pigmenti	Skin rash, Eosinophilia, Keratitis, Uveitis, Infectious encephalitis	ORPHA:464
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Bundle branch block, Polyh...	ORPHA:373
Adult Krabbe Disease	Peripheral demyelination, Abnormal circulating enzyme concentration or activity, CNS demyelinatio...	ORPHA:206448
Osteosarcoma	Joint swelling	ORPHA:668
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig...	OMIM:219800
Myasthenia, Limb-Girdle, Autoimmune	Mildly elevated creatine kinase, Hashimoto thyroiditis, Thymoma, Systemic lupus erythematosus	OMIM:159400
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of...	ORPHA:141083
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Autoimmunity, Splenomegaly, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Bangstad Syndrome	Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Pancytopenia, Goiter	OMIM:210740
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Charcot-Marie-Tooth Disease, Type 4J	Axonal loss, Onion bulb formation, Peripheral hypomyelination	OMIM:611228
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Glutaric aciduria, Delayed myelination, Symmetrical progressive peripher...	OMIM:231670
Ohdo Syndrome	Epicanthus, Proteinuria, Hearing impairment, Sparse eyebrow, Cryptorchidism, Microtia, Blepharoph...	OMIM:249620
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Hypokalemia, Palpitations, Goiter	OMIM:188580
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Holoprosencephaly	Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Synophrys, Chore...	ORPHA:2162
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Hyperli...	ORPHA:1414
Kindler Epidermolysis Bullosa	Urethral stricture, Corneal opacity, Recurrent skin infections, Camptodactyly of finger, Phimosis...	ORPHA:2908
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I...	OMIM:620040
Jeune Syndrome	Nephropathy, Renal insufficiency, Nephronophthisis	ORPHA:474
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Pustule, D...	ORPHA:29207
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Synophrys, Renal cyst, Microcornea, Gastroesopha...	OMIM:122470
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Red-brown ur...	ORPHA:228308
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Patent ductus arteriosus, Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Thyroid Cancer, Nonmedullary, 1	Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter	OMIM:188550
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, Pallor, ...	ORPHA:91347
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Ret...	ORPHA:88
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency	ORPHA:28
Laurence-Moon Syndrome	Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus	ORPHA:2377
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Synovi...	OMIM:186580
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc...	OMIM:600501
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Intestinal obstruction, Cataract, Chronic diarrhea, Flexion cont...	OMIM:601675
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Increased hepatic glycogen content, Enlarged tonsils, Large for gestational age	ORPHA:293964
Clouston Syndrome	Cataract, Sparse eyelashes, Sparse eyebrow, Conjunctivitis, Blepharitis, Hyperpigmentation of the...	OMIM:129500
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Eczema, Xerostomia, Hypohidrosis, Nephrotic syndrome, Keratoconjunctivitis sicca, Cogn...	ORPHA:238468
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Intestinal polyposis, Angina pectoris, Abnormal large intestine m...	ORPHA:109
Alg6-Cdg	Puberty and gonadal disorders, Jaundice, Decreased LDL cholesterol concentration, Increased circu...	ORPHA:79320
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature th...	ORPHA:371428
Chronic Mucocutaneous Candidiasis	Recurrent urinary tract infections, Skin rash, Erythema, Hepatitis, Cheilitis, Skin ulcer, Hematu...	ORPHA:1334
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Lacrimal Duct Defect	Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele	OMIM:149700
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Epicanthus, Telecanthus, Hypospadias, Aganglionic megacolon, Generaliz...	ORPHA:3339
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an...	ORPHA:90035
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Pleural Mesothelioma	Hepatomegaly, Abnormal cardiovascular system physiology, Lymphadenopathy, Obstruction of the supe...	ORPHA:50251
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Increase...	OMIM:618892
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Antinuclear antibody positivity, Splenomegaly, Jaundic...	OMIM:613471
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis, Hirsutism	OMIM:612526
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Anuria, Myocardial infarction, Thrombocytopenia, Peritonitis, Leukocytosis, Schi...	ORPHA:90038
Immunodeficiency 58	Recurrent cutaneous abscess formation, Psoriasiform lesion, Dysuria, Eczema, Allergic rhinitis, S...	OMIM:618131
Progeroid Short Stature With Pigmented Nevi	Cataract, Hypospadias, Allergic rhinitis, Impaired T cell function, Bicuspid aortic valve, Allerg...	OMIM:176690
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectropion	ORPHA:411777
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Rhabdomyolysis, Red-brown u...	ORPHA:228305
Juvenile Hyaline Fibromatosis	Skin ulcer	ORPHA:2028
Charcot-Marie-Tooth Disease Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel...	ORPHA:98856
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia, Anhidrosis	OMIM:614979
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Sensorineural hearing impairment, Moderate albuminuria, Periodontitis, Hydronephrosis	OMIM:619269
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, EEG with burst suppression, Jaundice, Cryptorchidism, Optic atroph...	OMIM:614231
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Encephalitis Lethargica	Autoimmunity, Urinary incontinence, Bowel incontinence, Increased circulating antibody level, Bra...	ORPHA:83600
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n...	ORPHA:90062
Analbuminemia	Edema, Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL ch...	OMIM:616000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Abnormal circulating enzyme...	ORPHA:79240
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Secundum atr...	OMIM:619534
Lambert Syndrome	Hypospadias, Ventricular septal defect, Jaundice, Cholestasis, Decreased circulating antibody lev...	ORPHA:1296
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia	ORPHA:99879
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Elevated circulating aspartate aminotransferase concentration, Decreased number of large peripher...	OMIM:271245
Cockayne Syndrome A	Abnormality of skin pigmentation, Micropenis, Hepatomegaly, Ataxia, Retinal pigment epithelial mo...	OMIM:216400
Branchiootorenal Syndrome 1	Renal dysplasia, Renal malrotation, Congenital hip dislocation, Intestinal malrotation, Unilatera...	OMIM:113650
Prolidase Deficiency	Recurrent cystitis, Crusting erythematous dermatitis, Erythema, Skin ulcer, Hyperkeratosis, Palmo...	ORPHA:742
Limited Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Autoimmunity, Skin ulcer, Gastroesophageal reflux, Dysphagia, Pulmona...	ORPHA:220402
Arima Syndrome	Ptosis, Hepatomegaly, Proteinuria, Polyuria, Ataxia, Optic atrophy, Stage 5 chronic kidney diseas...	OMIM:243910
Fucosidosis	Hepatomegaly, Anhidrosis, Petechiae, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion ...	OMIM:230000
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:98895
Hereditary Acrokeratotic Poikiloderma	Ectropion, Telangiectasia of the skin, Eczema, Hearing impairment, Abnormal preputium morphology,...	ORPHA:2907
Thyroid Cancer, Nonmedullary, 4	Goiter, Papillary thyroid carcinoma, Ovarian neoplasm	OMIM:616534
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Lung abscess, Abnormal pericardium morphology, Acute colit...	ORPHA:67
Chromosome 16P13.3 Deletion Syndrome, Proximal	Obesity, Polysplenia, Facial hypertrichosis, Failure to thrive, Abnormality of the hairline, Faci...	OMIM:610543
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia	OMIM:231000
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi...	OMIM:314050
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Peripheral axonal neuropathy, Demyelinating peripheral neuropathy,...	ORPHA:298
Hemochromatosis, Type 1	Arthropathy, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increa...	OMIM:235200
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Ollier Disease	Precocious puberty, Lymphangioma, Skin ulcer, Anemia	ORPHA:296
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ...	OMIM:613673
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Pneumocystosis	Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug...	ORPHA:723
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Blepharochalasis And Double Lip	Blepharochalasis, Duplication of the upper lip, Goiter	OMIM:109900
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Cleft upp...	OMIM:614294
Charcot-Marie-Tooth Disease, Type 4B3	Myelin outfoldings, Onion bulb formation, Urinary incontinence	OMIM:615284
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers	OMIM:607080
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Autoimmunity	ORPHA:703
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Meni...	OMIM:249100
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp...	OMIM:620133
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia	OMIM:266120
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Heart block, Increased circulating interferon-...	ORPHA:542323
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Flexion contracture, Corneal scarring, Constipation, Conjunctivitis, Dysphagia, Anemia	OMIM:226600
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Say-Barber-Miller Syndrome	Patellar hypoplasia, Abnormal T cell morphology, Knee flexion contracture, High palate, Decreased...	ORPHA:3132
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Abnormal conjunctiva morphology, Stroke	OMIM:602248
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia, Giant hypertrophic gastritis, Vascular dilatation	OMIM:137280
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Fumarase Deficiency	Necrotizing enterocolitis, Bilateral fetal pyelectasis, Increased urine succinate level, Decrease...	OMIM:606812
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He...	ORPHA:210136
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Autoimmune antibody positivity, Diarrhea, Ac...	ORPHA:424
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn...	OMIM:616307
Congenital Disorder Of Glycosylation, Type Ij	Cryptorchidism, Jaundice, Hypoproteinemia	OMIM:608093
Scedosporiosis	Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, ...	ORPHA:449280
Hypomagnesemia 2, Renal	Renal magnesium wasting, Renal insufficiency, Hypocalciuria	OMIM:154020
Lacrimoauriculodentodigital Syndrome	Xerostomia, Conductive hearing impairment, Vesicoureteral reflux, Increased corneal thickness, Hy...	ORPHA:2363
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Hypercalcemia, Cryptorchidism, Splenomegaly, Elbow flexion contract...	OMIM:618440
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Hematuria, Varicose vein...	ORPHA:71273
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Ddost-Cdg	Dry skin, Nephrotic range proteinuria	ORPHA:300536
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology	OMIM:614227
Enterokinase Deficiency	Diarrhea, Hypoproteinemia, Hypoproteinemic edema	OMIM:226200
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media	OMIM:266265
Trichothiodystrophy 5, Nonphotosensitive	Chronic decreased circulating IgG1, Chronic diarrhea, Wide mouth, Widely spaced primary teeth, Mi...	OMIM:300953
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypertensive retinopathy, Proteinuria, Cerebral hemorrhage, Elevated urinary norepin...	OMIM:171420
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal tubular dysfunction, Renal insufficiency, Pancreatitis	ORPHA:289916
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Acute Adrenal Insufficiency	Normocytic anemia, Decreased circulating cortisol level, Adrenal hypoplasia, Decreased urinary po...	ORPHA:95409
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Hyperprolinemia Type 2	Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra...	ORPHA:79101
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Polyarteritis Nodosa	Pericarditis, Erythema, Abnormality of the kidney, Skin ulcer	ORPHA:767
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Narrow mouth, Hypochromic microcytic anemia, Vomit...	OMIM:619147
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Cupped ear, Lacrimal duct atresia, Lacrimal duct aplasia, Microtia, Conj...	OMIM:620192
Hurler-Scheie Syndrome	Splenomegaly, Abnormality of the tonsils, Generalized hirsutism, Hepatomegaly	ORPHA:93476
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Diarrhea 13	Hepatic steatosis, Hypoalbuminemia, Secretory diarrhea, Vomiting	OMIM:620357
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers	OMIM:615376
Donnai-Barrow Syndrome	Cataract, Proteinuria, Posteriorly rotated ears, Congenital diaphragmatic hernia, Ventricular sep...	OMIM:222448
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Crouzon Syndrome	Keratitis, Optic atrophy, Conjunctivitis, Atresia of the external auditory canal, Shallow orbits,...	OMIM:123500
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter	OMIM:617175
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Renal insufficiency, Hypospadias, Nephroblastoma	OMIM:194072
Lichen Planus Pemphigoides	Hypopigmented streaks, Conjunctivitis, Blepharitis	ORPHA:254478
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Small bowel diverticula, Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration	OMIM:221400
Aicardi-Goutières Syndrome	Myositis, Diabetes mellitus, Autoimmunity, Chilblains, Cardiomegaly, Neonatal alloimmune thromboc...	ORPHA:51
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Autoimmune antibody positivity, Diarrhea, Ac...	ORPHA:99819
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Vasc...	ORPHA:793
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Intrahepatic Cholestasis Of Pregnancy	Skin rash, Autoimmunity, Abnormality of the pancreas, Jaundice, Abnormal circulating interleukin ...	ORPHA:69665
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Dry skin, Hypoalbuminemia, Malabsorption	ORPHA:1954
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Hyperthyroidism, Band keratopathy, Asplenia, Primary adrenal insufficiency, Hepatitis, ...	OMIM:269200
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Diarrhea, Sensorineural hearing impairment, ...	ORPHA:18
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Telecanthus, Proteinuria, Camptodactyly of finger	ORPHA:2774
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Ataxia, Cardiac arrest, Acute rhabdomyolysis, Oral-phar...	OMIM:616878
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hepatomegaly, A...	OMIM:276700
Charcot-Marie-Tooth Disease, Type 4D	Axonal loss, Onion bulb formation, Segmental peripheral demyelination/remyelination	OMIM:601455
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade...	ORPHA:99889
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Edema of the dorsum of hands, Atrial septal de...	OMIM:274000
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Recurrent skin infections, Anal fissure, Decreased serum iron, Carious teeth...	ORPHA:89842
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, R...	ORPHA:904
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter	OMIM:600791
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Osteomyelitis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Intestinal obstruction, Lymphadenopathy, Inflammation of the larg...	ORPHA:26790
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating...	ORPHA:79126
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Ulnar deviation of the wrist, Eczema, Allergic rhin...	OMIM:618162
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula...	OMIM:218700
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Body Mass Index Quantitative Trait Locus 20	Obesity, Tall stature	OMIM:618406
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Thrombocytopenia, Congestive heart...	ORPHA:508542
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pancreatic cysts, Pericardial effusion, Spleno...	ORPHA:464329
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Hyperapobetalipoproteinemia, Carotid artery stenosis, Elevate...	OMIM:210250
Hypotrichosis Simplex Of The Scalp	Allergic rhinitis, Abnormality of the dentition, Increased circulating IgE level, Atopic dermatit...	ORPHA:90368
Erythermalgia, Primary	Diarrhea, Xerostomia, Hyperhidrosis, Keratoconjunctivitis sicca, Constipation, Palpitations, Abno...	OMIM:133020
Galloway-Mowat Syndrome	Proteinuria, Camptodactyly of finger, Nephrotic syndrome, EEG abnormality, Cognitive impairment, ...	ORPHA:2065
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Abnormality of T cel...	ORPHA:2237
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Skin rash, Abnormal auditory evoked potentials	OMIM:617523
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Renal salt wasting, Vomiting, Leydig cell neoplasia, Hypona...	ORPHA:361
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Protein-losing enteropathy, Vomiting,...	OMIM:615863
Recon Progeroid Syndrome	Attached earlobe, Skeletal muscle atrophy, Red eye, Absent lower eyelashes, Anemia, Keratoconjunc...	OMIM:620370
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Duplicated collecting system, Cholestasis, Hepatosplenomegaly, Rec...	ORPHA:541423
Hughes-Stovin Syndrome	Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ...	ORPHA:228116
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea...	OMIM:620300
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin...	OMIM:612714
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Cerebral arteriovenous ma...	ORPHA:2929
Lymphedema-Distichiasis Syndrome	Ectropion, Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Varicose vei...	OMIM:153400
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal...	ORPHA:84081
Pparg-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Sple...	ORPHA:79083
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal hair quantity, Abnormal testis morphology, Obesity, Low posterior hairline	ORPHA:2233
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Recurrent upper respiratory tract infections, Enuresis, Recurrent ...	ORPHA:293987
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer	OMIM:604571
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Autoimmunity, Decreased response to growth hormone stimulation test, Precocious pub...	ORPHA:91354
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Highly elevated creatine kinase, Exercise-induced myoglobinuria	ORPHA:352479
Xeroderma Pigmentosum, Variant Type	Entropion, Freckles in sun-exposed areas, Keratitis, Cutaneous telangiectasia, Conjunctivitis, Ec...	OMIM:278750
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:615399
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Parkes Weber Syndrome	Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac...	ORPHA:90307
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis, Lymphadenopathy, Oligo...	ORPHA:2483
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Multinodular goiter, Nephroblastoma, Thyroid nodule, Goiter	OMIM:180295
Trisomy 10P	Absent gallbladder, Epicanthus, Decreased muscle mass, Posteriorly rotated ears, Abnormality of t...	ORPHA:171929
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Hepatomegaly	OMIM:620296
Hajdu-Cheney Syndrome	Downturned corners of mouth, Periodontitis, Hepatomegaly, Hypospadias, Open bite, Patent ductus a...	ORPHA:955
Infant Botulism	Ptosis, Cardiac arrest, Bowel incontinence, Xerostomia, Hypertension, Keratoconjunctivitis sicca,...	ORPHA:178478
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Spastic Paraplegia 11, Autosomal Recessive	Urinary urgency, Urinary bladder sphincter dysfunction, Urinary incontinence, Decreased number of...	OMIM:604360
Distal Limb Deficiencies-Micrognathia Syndrome	Low-set, posteriorly rotated ears, Renal insufficiency, Proteinuria, Cryptorchidism, Sensorineura...	ORPHA:1307
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Skin ulcer, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of ...	ORPHA:424019
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, Osteomyelitis, Hypospadias, Recurrent ear infections, Jaundice, Ne...	OMIM:619475
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Bilateral ptosis, Sensorineural hearing impairment, ...	ORPHA:1215
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Secretory diarrhea, Grade II vesicoureteral reflux...	OMIM:619377
Alexander Disease	Infectious encephalitis, Facial palsy	ORPHA:58
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Kaposi Sarcoma	Generalized lymphadenopathy, Skin rash, Lymphedema, Venous insufficiency, Abnormality of the sple...	ORPHA:33276
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A...	ORPHA:65681
Cockayne Syndrome B	Microcornea, Hypoplasia of the iris, Abnormality of skin pigmentation, Micropenis, Hepatomegaly, ...	OMIM:133540
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Epicanthus, Superficial dermal perivascular inflammatory infiltrate, Severe B lymph...	ORPHA:83617
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine...	OMIM:171400
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:119
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Abnormal circulating enzyme concentration or acti...	ORPHA:206443
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Thyroid a...	ORPHA:3047
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Shallow orbits, Megalocornea, Pericardial effusion, Cryptorchidi...	ORPHA:1272
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Acquired Purpura Fulminans	Shock, Skin rash, Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum, In...	ORPHA:49566
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Cysticercosis	Iridocyclitis, Infectious encephalitis, Increased circulating antibody level	ORPHA:1560
Lichen Planopilaris	Hyperkeratosis, Hepatitis, Skin ulcer	ORPHA:525
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Heman...	ORPHA:2969
Helix Syndrome	Renal insufficiency, Polyuria, Nephrolithiasis, Hypocalciuria, Dry skin	OMIM:617671
Chromomycosis	Keratitis, Hypopigmented skin patches, Keratoconjunctivitis sicca, Eyelid retraction, Lymphangiec...	ORPHA:182
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency	ORPHA:3222
Xeroderma Pigmentosum, Complementation Group C	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Freckling, Hypopigmentation of the skin, Ec...	OMIM:278720
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Abnormal bleeding, Left at...	ORPHA:57777
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Renal tubular acidosis, Chronic kidney disease, 3-Methylglutaconic aciduria	ORPHA:324525
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Asplenia, Recurrent mycobacterial infections, Bronchiectasis,...	ORPHA:244
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Nausea, Increased circulating ferritin concentration, Splenomegaly, ...	OMIM:222700
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pain insensitivity, Cataract, Telangiectasia of the skin, Decreased response to growth hormone st...	OMIM:616007
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Multiple glomerular cysts, Segmental peripheral demyelination/remyelination, Abnorm...	ORPHA:255210
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah...	OMIM:613812
Velocardiofacial Syndrome	Hypoparathyroidism, Ventricular septal defect, Impaired T cell function, Cryptorchidism, Velophar...	OMIM:192430
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Failure to thrive	OMIM:235555
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Chronic otitis media, Multicystic kidney dysplasia, Abnormal denta...	ORPHA:2750
Pulmonary Capillary Hemangiomatosis	Right ventricular failure, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody p...	ORPHA:199241
Ileal Neuroendocrine Tumor	Intestinal fistula, Tricuspid stenosis, Edema, Nausea, Right ventricular failure, Arterial occlus...	ORPHA:100078
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Bitot spots of the conjunctiva	OMIM:277350
Wagro Syndrome	Cataract, Corneal opacity, Proteinuria, Hypertension, Low-set ears, Aniridia, Nephroblastoma, Dow...	OMIM:612469
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Abnormal eyelid morphology, Pustule, Corneal erosion, Chronic diarrh...	ORPHA:37
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Polycystic kidney dysplasia	OMIM:173900
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con...	OMIM:609015
Plague	Glossitis, Chapped lip, Edema, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inflam...	ORPHA:707
Werner Syndrome	Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vascular mor...	ORPHA:902
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Glycogen Storage Disease Ixd	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:300559
Hereditary Folate Malabsorption	Pancytopenia, Recurrent urinary tract infections, Eosinophilia, Megaloblastic anemia, Diarrhea, C...	ORPHA:90045
Combined Oxidative Phosphorylation Deficiency 37	Prolonged prothrombin time, 3-Methylglutaconic aciduria, Bile duct proliferation, Hypoalbuminemia...	OMIM:618329
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Warburg-Cinotti Syndrome	Dental crowding, Ankle flexion contracture, Erythema, Elbow flexion contracture, Gingival overgro...	OMIM:618175
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body mass index, Increased body weight, Anemia	OMIM:614450
Treacher-Collins Syndrome	Hypoplasia of penis, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper l...	ORPHA:861
Dermatopathia Pigmentosa Reticularis	Abnormal conjunctiva morphology, Reticular hyperpigmentation, Hypohidrosis	OMIM:125595
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheu...	ORPHA:85410
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Type 1 Diabetes Mellitus	Autoimmunity	OMIM:222100
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:306000
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:612300
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Atr...	OMIM:301068
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Orofacial cleft, G...	OMIM:615630
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Autoimmune Disease, Susceptibility To, 1	Hashimoto thyroiditis	OMIM:607836
Infantile Krabbe Disease	Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Abnormal circulating e...	ORPHA:206436
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology	ORPHA:3411
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Abnormal heart valve morphology, Intestinal pseudo-obstr...	OMIM:309900
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema nodosum, Lymphadenitis, Pus...	ORPHA:31205
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Hypoalbuminemia	OMIM:227090
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,...	OMIM:613090
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Multiple pterygia, Abnormal eyelid morphology, Cond...	ORPHA:2990
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Impaired T cell function, Anisocytosis, Fola...	OMIM:258900
Pheochromocytoma	Tachycardia, Hypertensive retinopathy, Proteinuria, Cerebral hemorrhage, Elevated urinary norepin...	OMIM:171300
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Dry skin, Hypertension, Hypoalbuminemia, Premature loss of teet...	OMIM:610965
Xeroderma Pigmentosum, Complementation Group E	Entropion, Keratitis, Telangiectasia, Conjunctivitis, Ectropion	OMIM:278740
Dermatitis Herpetiformis	Eczema, Autoimmunity, Microcytic anemia	ORPHA:1656
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia	OMIM:617827
Hypothyroidism, Central, With Testicular Enlargement	Overweight, Reduced circulating prolactin concentration	OMIM:300888
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration	OMIM:607831
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induc...	OMIM:153670
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Autoimmunity	ORPHA:704
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anisocytosis, Anemia ...	OMIM:224120
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cy...	OMIM:208500
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Thrombocytopenia, Hepatosplenom...	OMIM:606003
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:604292
Lacrimoauriculodentodigital Syndrome 1	Xerostomia, Conjunctivitis, Nephrosclerosis, Corneal perforation, Hypoplasia of the lacrimal punc...	OMIM:149730
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Obesity Due To Melanocortin 4 Receptor Deficiency	Childhood-onset truncal obesity, Obesity	ORPHA:71529
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Aredyld Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Refractory anemia with ringed sideroblasts, Sparse body hai...	ORPHA:1133
Cerebrotendinous Xanthomatosis	Precocious atherosclerosis, Abnormal eyelid morphology, Progressive psychomotor deterioration, Ju...	ORPHA:909
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Elevated circulating creatine kinase concentration, Protruding ...	OMIM:608779
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis	OMIM:616589
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Mucopolysaccharidosis Type 1	Joint dislocation, Sinusitis, Abnormal heart valve morphology, Abnormality of the tonsils, Malabs...	ORPHA:579
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed...	ORPHA:103910
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism	OMIM:252920
Infantile Systemic Hyalinosis	Abnormal dental morphology, Camptodactyly of finger, Telangiectasia of the skin, Lymphedema, Mala...	ORPHA:2176
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Sen...	OMIM:148210
Flotch Syndrome	Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Nephrolithiasis, Bleph...	ORPHA:2045
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Go...	OMIM:609734
Acute Radiation Syndrome	Abnormal bleeding, Inflammatory abnormality of the skin, Diarrhea, Skin ulcer, Telangiectasia, In...	ORPHA:454831
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin...	ORPHA:529799
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Severe periodontitis, Palpebral e...	ORPHA:99843
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit...	OMIM:617595
Cowden Syndrome	Abnormal penis morphology, Follicular thyroid carcinoma, Abnormality of the kidney, Enlarged poly...	ORPHA:201
Flynn-Aird Syndrome	Abnormality of the thyroid gland, Carious teeth, Primary adrenal insufficiency, Skin ulcer, Type ...	ORPHA:2047
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Polyhydramnios, Downturned corners of mouth, Gastroesophageal reflux, Atrial septal defect, Paten...	OMIM:620186
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:129900
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist...	OMIM:139090
Cushing Disease	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Pedal edema, Re...	ORPHA:96253
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin...	ORPHA:552
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,...	OMIM:619127
Hurler Syndrome	Aortic regurgitation, Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Enlarged to...	OMIM:607014
Coach Syndrome 1	Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Vascular dilatation, Splenomegaly, ...	OMIM:216360
Arthrogryposis, Distal, Type 2A	Hip contracture, Epicanthus, Telecanthus, Flexion contracture of finger, Shoulder flexion contrac...	OMIM:193700
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration	ORPHA:31
Essential Thrombocythemia	Transient ischemic attack, Myocardial infarction, Abnormal cerebral vascular morphology, Splenome...	ORPHA:3318
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Reticulocytopenia, Abnormality of skin pigmentation, Neutropenia, Micropenis, Pel...	OMIM:227646
Classical-Like Ehlers-Danlos Syndrome Type 2	Carotid artery stenosis, Impaired temperature sensation, Pericardial effusion, Bilateral ptosis, ...	ORPHA:536532
Primary Hyperoxaluria Type 1	Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn...	ORPHA:93598
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C...	ORPHA:2414
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Peripheral axonal neuropathy, Axonal degeneration/regeneration, Facial diplegia, Onion bulb forma...	OMIM:218000
Mycosis Fungoides	Erythema, Eczema, Psoriasiform dermatitis, Lymphadenopathy	OMIM:254400
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Peripheral dysmyelination	ORPHA:101082
Glucose-Galactose Malabsorption	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:35710
Infantile Myofibromatosis	Neoplasm of the pancreas, Intestinal obstruction, Hypercalcemia, Abnormality of the kidney, Trach...	ORPHA:2591
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Abnormal circulating enzyme concentration or activity, Cataract, Dysmetria, Tortuosity of conjunc...	ORPHA:284289
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Sparse eyelashes, Ventricular septal defect, Optic atrophy, Microcornea, Keratoconjun...	OMIM:234050
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Pancreatitis, Abnormal renal tubule mor...	ORPHA:188
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Anasarca, Hypoproteinemia, Anal atresia, Exocrine pancreatic insufficiency	OMIM:260450
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Abnormal bleeding, High, narrow palate, Rectal pr...	ORPHA:79076
Adiposis Dolorosa	Recurrent skin infections, Autoimmunity, Telangiectasia of the skin, Diarrhea, Xerostomia, Arthri...	ORPHA:36397
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos...	ORPHA:223
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Pseudo-Torch Syndrome 1	Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Patent ductus arteriosus, Lissencephal...	OMIM:251290
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Cupped ear, Upper eyeli...	OMIM:167730
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Spinocerebellar Ataxia, Autosomal Recessive 10	Limb ataxia, Gait ataxia, Tortuosity of conjunctival vessels, Dysmetria, Truncal ataxia	OMIM:613728
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Optic disc pallor, Tricuspid regurgitation, Ketonuria, Ataxia, Dilated cardiomyopat...	OMIM:619167
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena...	ORPHA:411629
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Elevated circula...	ORPHA:97287
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Hypohidrosis, Microcornea, Protruding ear, Keratoconju...	ORPHA:1806
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Axonal degeneration, Onion bulb formation, Decreased number of pe...	OMIM:302800
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Hemophagocytosis, Skin ulcer, Hepatosplenomegaly	ORPHA:86884
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Symmetric peripheral demyelination, Leukodystrophy	OMIM:169500
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Cataract, Ataxia, Abnormal auditory evoked potentials, Synophrys, Sensorineura...	OMIM:619260
Gorham-Stout Disease	Lymphangioma, Osteomyelitis, Elevated alkaline phosphatase of bone origin, Meningitis	ORPHA:73
Trigeminal Neuralgia	CNS demyelination, Cranial nerve compression, Peripheral demyelination	ORPHA:221091
Monosomy 18P	Autoimmunity, Lymphedema, Carious teeth, Cleft palate, Downturned corners of mouth, Hypertension,...	ORPHA:1598
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno...	OMIM:607626
Rhyns Syndrome	Renal insufficiency, Chronic kidney disease, Nephronophthisis	OMIM:602152
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Apparent Mineralocorticoid Excess	Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency, Renal sodium wasting	ORPHA:320
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Cryptorchidism, Synophrys, Increased body weight	ORPHA:589905
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Diarrhea, Bronchiectasis, Lymphadenopathy, Pleural effusion	ORPHA:411703
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper...	OMIM:239200
Mucopolysaccharidosis Type 6	Sinusitis, Abnormal heart valve morphology, Splenomegaly, Thick lower lip vermilion, Genu valgum,...	ORPHA:583
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Thick lower lip vermil...	OMIM:162300
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Acne, Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia ...	OMIM:158330
Xeroderma Pigmentosum	Conjunctival telangiectasia, Ankyloblepharon, Aminoaciduria, Pterygium, Ataxia, Hypermelanotic ma...	ORPHA:910
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure...	ORPHA:3027
Hypothyroidism, Congenital, Nongoitrous, 5	Thyroid agenesis, Patent foramen ovale, Elevated circulating thyroid-stimulating hormone concentr...	OMIM:225250
Tangier Disease	Accelerated atherosclerosis, Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectio...	ORPHA:31150
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Bronchiectasis, Autoimmunity	ORPHA:1303
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi...	OMIM:275200
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency	OMIM:247410
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Corneal dystrophy, Corneal opacity, Optic nerve hypoplasia, Sparse eyebrow, Cryptorc...	ORPHA:495875
Hurler Syndrome	Hepatomegaly, Abnormal heart valve morphology, Camptodactyly of finger, Abnormality of the tonsil...	ORPHA:93473
Familial Keratoacanthoma	Skin ulcer	ORPHA:493
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Pancreatitis	ORPHA:27
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Edema, Pulmonary embolism, ...	ORPHA:70591
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia	OMIM:614922
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Conjugated hyperbilirubinemia, Renal cyst, High palate, Atri...	OMIM:614866
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Abnormality of the kidney, Vertebrobasilar d...	ORPHA:521445
Cranioectodermal Dysplasia 2	Cholangitis, Polyhydramnios, Hydrops fetalis, Renal cyst, Fused teeth, High palate, Widely spaced...	OMIM:613610
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Atrial septal defect, R...	OMIM:118450
Spinocerebellar Ataxia 25	Urinary urgency, Decreased number of peripheral myelinated nerve fibers	OMIM:608703
Myasthenia Gravis	Facial palsy, Autoimmunity, Thymoma	OMIM:254200
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Linear hyperpigmentation, Ventricular septal defect, Sclerocornea, Cryptorc...	OMIM:613001
Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly, Wide mouth, Mucopolysacchariduria, Thick vermil...	ORPHA:93474
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Skin ulcer, Hepa...	ORPHA:2072
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Cartilage-Hair Hypoplasia	Low-set, posteriorly rotated ears, Hepatomegaly, Epicanthus, Abnormality of retinal pigmentation,...	ORPHA:175
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis	OMIM:200400
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria, Achilles tendon contracture, Dilated cardiomyopathy, Abnormal lef...	OMIM:607155
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, ...	OMIM:617093
Charcot-Marie-Tooth Disease Type 4A	Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy...	ORPHA:99948
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ...	OMIM:230800
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatic steatosis, Diabetes...	ORPHA:280365
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Nephrocalcinosis, Early onset of sexual maturation, Gastr...	OMIM:194050
Marfanoid-Progeroid-Lipodystrophy Syndrome	Scapular winging, Ectopia lentis, Melanocytic nevus, Mitral valve prolapse, Hypertension, Keratoc...	OMIM:616914
Pure Mitochondrial Myopathy	Scapular winging, Recurrent myoglobinuria, Bilateral ptosis, Quadriceps muscle weakness, Rhabdomy...	ORPHA:254854
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Cardiomegaly, Progressive alveolar ridge hypertropy, Hepatom...	OMIM:252500
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveiti...	OMIM:612387
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Pancytopenia, Phimosis, Urinary bladder inflammation, D...	ORPHA:99921
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Anti-granulocyte-macrop...	OMIM:610910
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante...	OMIM:604484
Severe Acute Respiratory Syndrome	Acute infectious pneumonia, Acute kidney injury	ORPHA:140896
Chops Syndrome	Ventricular septal defect, Gastroparesis, Cryptorchidism, Splenomegaly, High, narrow palate, Pate...	OMIM:616368
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Asymmetric septal hyper...	OMIM:252930
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Telecanthus, Rieger anomaly, Abnormal auditory evoked potentials, Sensorineural hearing impairmen...	OMIM:109120
Isolated Osteopoikilosis	Autoimmunity, Abnormality of the kidney, Abnormality of the endocrine system, Discoid lupus rash,...	ORPHA:166119
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Heparan sulfate excretion in urine, Splenomegaly, ...	OMIM:253220
Meacham Syndrome	Hypoplasia of penis, Cryptorchidism, Abnormality of the spleen, Patent ductus arteriosus, Hydrome...	ORPHA:3097
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria	OMIM:619685
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
Cowden Syndrome 7	Intestinal polyposis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashimoto thyroiditi...	OMIM:616858
Cystic Fibrosis	Elevated hepatic transaminase, Recurrent Aspergillus infections, Recurrent respiratory infections...	ORPHA:586
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral...	ORPHA:391641
Oculoauriculofrontonasal Syndrome	Ventricular septal defect, Conductive hearing impairment, Upper eyelid coloboma, Microtia, Limbal...	ORPHA:398156
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Hepatic fibrosis, Hamartoma of tongue, Cleft upper lip, Supernumer...	OMIM:311200
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Bardet-Biedl Syndrome 9	Renal insufficiency	OMIM:615986
Tumoral Calcinosis, Normophosphatemic, Familial	Calcinosis, Conjunctivitis	OMIM:610455
Eec Syndrome	Decreased response to growth hormone stimulation test, Xerostomia, Urethral atresia, Hypoplasia o...	ORPHA:1896
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Congenital hip dislocation, Splenomegaly, Renal hypoplasia, Dysphagia, ...	OMIM:617913
Chylomicron Retention Disease	Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol co...	OMIM:246700
Okur-Chung Neurodevelopmental Syndrome	Epicanthus, Ataxia, Highly arched eyebrow, Synophrys, Cupped ear, Overfolded helix, Decreased cir...	OMIM:617062
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Osteomyelitis	OMIM:614116
Liddle Syndrome 1	Renal insufficiency	OMIM:177200
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Synophrys, Coarse hair, Hirsutism	OMIM:252900
Hurler-Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Camptodactyly of finger, Heparan sulfate excretion in urine, ...	OMIM:607015
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Papilledema, Atrial septal defect, Proteinuria, Bilateral cryptorc...	OMIM:619471
Autosomal Spastic Paraplegia Type 58	Peripheral demyelination	ORPHA:397946
Pmm2-Cdg	Lymphedema, Elevated circulating thyroid-stimulating hormone concentration, Intracranial hemorrha...	ORPHA:79318
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Low Phospholipid-Associated Cholelithiasis	Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Biliary cirrhosis, Obesity, Neo...	ORPHA:69663
Porphyria Variegata	Neurogenic bladder, Chronic kidney disease, Porphyrinuria, Increased urinary porphobilinogen, Ski...	ORPHA:79473
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Abnormality of the dentition, Short dental root, Congenital hypothyroidism, Genu valgum, Delayed ...	OMIM:271510
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leu...	OMIM:620233
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia, Atopic dermatitis, Hypochromic microcy...	ORPHA:3240
Familial Tumoral Calcinosis	Hepatomegaly, Skin rash, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, ...	ORPHA:53715
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Dilated ca...	OMIM:230500
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Acitretin/Etretinate Embryopathy	Epicanthus, Cupped ear, Antecubital pterygium, Conotruncal defect, Microtia, Hypoplasia of the th...	ORPHA:40366
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pancreatic islet-cell hyperplasia, Increased body weight	ORPHA:276608
Refsum Disease	Renal insufficiency, Dry skin	ORPHA:773
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ...	ORPHA:100080
Primary Angiitis Of The Central Nervous System	Cerebral vasculitis, Ataxia, Transient ischemic attack, Vertigo, Intracranial hemorrhage, Pseudop...	ORPHA:140989
Snakebite Envenomation	Ecchymosis, Erythema, Acute kidney injury	ORPHA:449285
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Decreased motor nerve conduction velocity, Chorea, Impaired distal v...	OMIM:606002
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Polyhydramnios, Downturned corners of mouth, High palate, Widely spaced teeth, G...	OMIM:618268
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Congenital hip dislocation, Adrenal hypoplasia, Unilateral renal agenesis, Cleft upper lip, Eleva...	OMIM:308050
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Stage 5 chronic kidney disease, R...	OMIM:613159
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Abnormal pulmonary ...	ORPHA:100082
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal dysplasia, Renal insufficiency, Hypoplasia of penis, Renal hypoplasia	ORPHA:85321
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfec...	ORPHA:100075
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency	ORPHA:1563
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Synophrys, Hypertrophy of the urinary bladder, Large fleshy ears, Gastroesophageal reflux, Atrial...	ORPHA:280633
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Erythema, Nephrotic syndrome, Focal segmental glomerulosclerosi...	OMIM:614748
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Abnormal pulmonary valve morphology, Craniosynostosis, P...	ORPHA:667
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre...	ORPHA:252183
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Sensory axonal neuropathy, Facial palsy, ...	OMIM:256850
Adult Syndrome	Eczema, Nasolacrimal duct obstruction, Conjunctivitis, Freckling, Fair hair	OMIM:103285
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Asplenia, Patent ductus arteriosus, Horseshoe kidney, Abnor...	ORPHA:99776
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Recurrent urinary tract infections, Intestinal malrotation, Portal hypertension, Es...	OMIM:613658
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio...	OMIM:618528
Johanson-Blizzard Syndrome	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Atrial septal defect, Micropenis, Hyp...	OMIM:243800
Beckwith-Wiedemann Syndrome	Ureteral duplication, Redundant skin, Polyhydramnios, Cardiomegaly, Vesicoureteral reflux, Nephro...	ORPHA:116
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Mediastinal lymphadenopa...	ORPHA:139411
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H...	ORPHA:93111
Silver-Russell Syndrome 3	Unilateral cryptorchidism, Elbow contracture, Patent ductus arteriosus, Antecubital pterygium, Me...	OMIM:616489
Idiopathic Bronchiectasis	Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections	ORPHA:60033
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Ifap Syndrome 2	Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca	OMIM:619016
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Secundum atrial septal defect, Dysmetria, Facial diplegia, Attention defic...	OMIM:619121
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Vascular dilatation, Pa...	OMIM:606519
Autosomal Recessive Spastic Paraplegia Type 35	Urinary incontinence, Optic atrophy, Enuresis nocturna, Pollakisuria, Peripheral demyelination	ORPHA:171629
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Insulinoma	Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Increased body weight, Ne...	ORPHA:97279
Chime Syndrome	Ventricular septal defect, Abnormal dental morphology, Abnormality of the kidney, Abnormality of ...	ORPHA:3474
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Splenomegaly, Mi...	OMIM:619418
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Fanconi Anemia, Complementation Group O	Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Urinary incontinence, Delayed peripheral myelination	ORPHA:464282
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Autoimmunity, Abnormal cerebral vascular morphology, Pri...	ORPHA:3453
Atypical Werner Syndrome	Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Premature arteriosclerosis, Abno...	ORPHA:79474
D-Bifunctional Protein Deficiency	Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Primary adrenal insufficiency, Renal c...	OMIM:261515
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Anemia	OMIM:244460
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Vomiting, Prolonged QTc interval, Mildly elevated creatine k...	ORPHA:66529
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Abnormal pinna morphology, Eczema, Absent eyelashes, Conjunctival hyperemia	ORPHA:2890
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased number of large peripheral myelinated nerve fibers, Foot osteomyelitis, Osteomyelitis, ...	OMIM:162400
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Synophrys, Increased body weight, Low posterior hairline, Nail dystrophy, Hi...	OMIM:300860
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Adrenal hyperplasia, Increased body weight, Hirsutism	OMIM:615830
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Perianal abs...	OMIM:301074
Acute Intermittent Porphyria	Dark urine, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Increased urinary ...	ORPHA:79276
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Chylothorax, Polyhydramnios	OMIM:619036
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Cavernous hemangioma, Dystrophic toenail, Ri...	OMIM:616028
Dermatoosteolysis, Kirghizian Type	Keratitis, Osteoarthritis, Skin ulcer	ORPHA:1657
Stiff-Person Syndrome	Hypertension, Tachycardia, Autoimmunity, Anemia	OMIM:184850
Limb-Mammary Syndrome	Absent lacrimal punctum, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr...	ORPHA:69085
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity	OMIM:603233
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Hypospadias, Supraventricular arrhythmia, Microcytic anemia, T lymphocy...	ORPHA:2959
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, ...	ORPHA:71493
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Epicanthus, Venous insufficiency, Decreased nerve conduction velocity, Osteoarthriti...	ORPHA:285
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Lymphedema, Abnormality of t...	ORPHA:538
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Elevated circulating creatine kinase concentration, Intraventricular hemorrhage, Aminoaciduria, P...	OMIM:619055
Lambert-Eaton Myasthenic Syndrome	Xerostomia, Abnormality of the orbital region, Hypohidrosis, Keratoconjunctivitis sicca, Constipa...	ORPHA:43393
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congest...	ORPHA:423
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Combined Oxidative Phosphorylation Deficiency 9	Hyperalaninemia, Tubulointerstitial nephritis	OMIM:614582
East Syndrome	Peripheral axonal neuropathy, Renal salt wasting, Renal magnesium wasting, Enuresis, Peripheral h...	ORPHA:199343
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Polyhydramnios, Conjugated hyperbilirubinemia, ...	OMIM:617156
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections, Micropenis, Delayed myelination	OMIM:241410
Acth-Independent Macronodular Adrenal Hyperplasia 2	Abdominal obesity, Macronodular adrenal hyperplasia, Increased body weight	OMIM:615954
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, C...	OMIM:620024
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity	OMIM:619351
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Hermansky-Pudlak Syndrome 10	Splenomegaly, Recurrent respiratory infections, Hepatomegaly, Neutropenia	OMIM:617050
Frontofacionasal Dysplasia	Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li...	ORPHA:1791
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Acute Transverse Myelitis	Invasive parasitic infection, Urinary incontinence, Autoimmunity, Abscess, Severe viral infection...	ORPHA:139417
Paroxysmal Hemicrania	Palpebral edema, Hypertension, Rhinitis, Conjunctival hyperemia, Ptosis	ORPHA:157835
Peho Syndrome	Optic atrophy, Peripheral dysmyelination	OMIM:260565
Mucopolysaccharidosis Type 7	Lymphedema, Splenomegaly, Hydrops fetalis, Hepatitis, Mucopolysacchariduria, Arteriovenous malfor...	ORPHA:584
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Knee flexion c...	OMIM:265000
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my...	OMIM:160980
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Pituitary adenoma, Primary hyperparathyroidism, Increased body weight, Abdominal obesit...	ORPHA:189427
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Facial palsy, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphol...	ORPHA:456312
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr...	OMIM:616843
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease	OMIM:618821
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Intestinal malrotation, Adrenal hypoplasia, Polyhydramnios, Ren...	ORPHA:2166
Joubert Syndrome 9	Stage 5 chronic kidney disease	OMIM:612285
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Neuropathy, Hereditary Sensory And Autonomic, Type V	Osteomyelitis, Urinary incontinence, Osteoarthritis, Acral ulceration, Septic arthritis	OMIM:608654
Middle Ear Neuroendocrine Tumor	Chronic diarrhea, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm, Carcinoid tumor	ORPHA:100084
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Nephroblastoma, Overgrowth	OMIM:612918
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Frontal balding, Synophrys, Obesity, Facial hirsutism, High anterior hairline, Abn...	ORPHA:247768
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Microvesicular hepatic steatosis, CNS demyelination, Increased hepatocell...	OMIM:220111
Sifrim-Hitz-Weiss Syndrome	Vesicoureteral reflux, Renal insufficiency, Micropenis, Patent ductus arteriosus	OMIM:617159
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Hepatomegaly, Tricuspid regurgitation, Pneumonia, Carious teeth, Splen...	OMIM:253200
Phace Syndrome	Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root...	ORPHA:42775
Sunct Syndrome	Palpebral edema, Episodic hyperhidrosis, Ear pain, Hyperhidrosis, Vomiting, Conjunctival hyperemi...	ORPHA:57145
Staphylococcal Necrotizing Pneumonia	Shock, Neutrophilia, Pneumonia, Confusion, Leukocytosis, Acute infectious pneumonia, Leukopenia, ...	ORPHA:36238
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Splenomegal...	ORPHA:251066
Spastic Ataxia, Charlevoix-Saguenay Type	Urinary urgency, Decreased number of large peripheral myelinated nerve fibers, Onion bulb formati...	OMIM:270550
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Familial Multiple Nevi Flammei	Edema, Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arterioveno...	ORPHA:624
Mucopolysaccharidosis Type 2, Severe Form	Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, Abnormal dental m...	ORPHA:217085
Oculoectodermal Syndrome	Atrial septal defect, Epicanthus, Transient ischemic attack, Patent ductus arteriosus, Hyperpigme...	OMIM:600268
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure to thrive, T...	OMIM:614520
Proteus Syndrome	Lymphedema, Neoplasm of the thymus, Pulmonary embolism, Renal cyst, Abnormality of the wrist, Abn...	ORPHA:744
Hermansky-Pudlak Syndrome 1	Ecchymosis, Renal insufficiency, Colitis, Inflammation of the large intestine	OMIM:203300
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum ...	OMIM:269700
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoids, Abnormal dental m...	ORPHA:217093
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Pol...	OMIM:608836
Phaver Syndrome	Epicanthus, Posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Conduct...	ORPHA:2876
Meckel Syndrome, Type 1	Adrenal hypoplasia, Asplenia, Lobulated tongue, Accessory spleen, Malformation of the hepatic duc...	OMIM:249000
Lujo Hemorrhagic Fever	Renal insufficiency, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatitis, Oligur...	ORPHA:319213
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction, Jaundice, Extrahepat...	ORPHA:1333
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Downturned corners of mouth, Short philtrum, Gastroesophageal reflux, Atrial septal defect, Decre...	ORPHA:500150
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege...	OMIM:615490
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease	OMIM:613819
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Palmoplantar keratoderma, Skin ulcer	ORPHA:659
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Defective production of NFKB1-depen...	OMIM:612132
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Spastic Ataxia 5, Autosomal Recessive	Onion bulb formation	OMIM:614487
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Urinary incontinence, Abnormal peripheral myelination, Atopic dermatitis, Abnormal myelination, M...	ORPHA:466768
Stüve-Wiedemann Syndrome	Camptodactyly of finger, Abnormality of the dentition, Elbow flexion contracture, Knee flexion co...	ORPHA:3206
Ehlers-Danlos Syndrome, Periodontal Type, 1	Joint dislocation, Alveolar bone loss around teeth, Prominent superficial veins, Autoimmunity, Hi...	OMIM:130080
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Epicanthus, Abnormal pinna morphology, Hypospadias, Multiple pterygia, Pterygium	OMIM:177980
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Diabetes mellitus, Hyperthyroidism, Autoimmunity, Mitral valve prolapse, Hypertension, Aortic roo...	ORPHA:449291
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Cherry red spot of the macula, Abnormal bleeding, Hepato...	ORPHA:77293
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis, Secretory diarrhea, Hyperhidrosis, Hypoalbuminemia	OMIM:614441
Pallister-Hall Syndrome	Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Atrial septal defect, Micropenis, At...	ORPHA:672
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hepatomegaly, Median cleft lip, Ventricular septal defect, Intestinal malrotation, E...	OMIM:269860
Pemphigus Foliaceus	Psoriasiform dermatitis, Autoimmunity, Pustule, Crusting erythematous dermatitis, Erythroderma	ORPHA:79481
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi...	ORPHA:85436
Meckel Syndrome 12	Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Bilateral renal agenesis, Low-set e...	OMIM:616258
Thyroid Ectopia	Abnormality of the thyroid gland, Jaundice, Macroglossia, Constipation, Ectopic thyroid, Hypothyr...	ORPHA:95712
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos...	OMIM:607625
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination	ORPHA:168563
Pterygium Of Conjunctiva And Cornea	Abnormal conjunctiva morphology, Pterygium	OMIM:178000
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Simplified gyral pattern, Vaginal atresia, Microlissencephaly	OMIM:617914
Cranioectodermal Dysplasia 4	Recurrent pneumonia, Stage 5 chronic kidney disease, Cutis laxa	OMIM:614378
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Congenital Disorder Of Glycosylation, Type Iig	Hemolytic-uremic syndrome, Renal insufficiency, Hypospadias, Hydronephrosis	OMIM:611209
Bohring-Opitz Syndrome	Vesicoureteral reflux, Recurrent infections, Delayed peripheral myelination, Hyperechogenic pancreas	OMIM:605039
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Hepatitis, Abnormal renal tubule morphology	ORPHA:440713
Otoonychoperoneal Syndrome	Underfolded helix, Aplasia/Hypoplasia of the earlobes, Flexion contracture, Knee flexion contract...	ORPHA:2793
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hem...	ORPHA:31826
Peters-Plus Syndrome	Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Patent ductus arteri...	OMIM:261540
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin...	OMIM:608594
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration	ORPHA:90103
Bruck Syndrome 2	Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Hydroxyprolinuria, Pter...	OMIM:609220
Mucolipidosis Type Ii	Knee flexion contracture, Otitis media, Patent foramen ovale, Telangiectases of the cheeks, Promi...	ORPHA:576
Thyroid Hypoplasia	Jaundice, Macroglossia, Constipation, Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Hypothyroidism, Congenital, Nongoitrous, 9	Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l...	OMIM:301035
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Patent ductus arteri...	OMIM:135500
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency	ORPHA:2318
Leukodystrophy, Hypomyelinating, 5	Onion bulb formation, Leukodystrophy, CNS hypomyelination	OMIM:610532
Malt Lymphoma	Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Hyperhidrosis, Lymphadenopathy, Co...	ORPHA:52417
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Limbal dermoid, Vesicoureteral reflux, Atrial septal defect,...	ORPHA:857
Carney Complex	Pituitary growth hormone cell adenoma, Increased body weight, Thyroid carcinoma, Papillary thyroi...	ORPHA:1359
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Chronic otitis media, Renal cyst, Vesicour...	ORPHA:261494
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Ectopic kidney, Bilateral cryptorchidism, Flexion contracture, Ankylob...	OMIM:263650
Angioedema, Hereditary, 1	Intestinal edema, Autoimmunity, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema,...	OMIM:106100
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:259900
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency	ORPHA:220497
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Congestive heart ...	OMIM:615512
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic...	ORPHA:79644
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Urolithiasis, Gout, Hyperuricosuria, Uric acid nephrolithiasis	OMIM:300661
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Ectropion, Recurrent skin infections, Urinary bladder inflammation, Hydroneph...	ORPHA:79403
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Hypoka...	OMIM:174900
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Flexion contracture, Abnormality of the urinary syst...	ORPHA:158684
Mckusick-Kaufman Syndrome	Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ...	OMIM:236700
Hamamy Syndrome	Hypoparathyroidism, Atrial septal defect, Telecanthus, Sparse eyelashes, Prolonged QRS complex, M...	OMIM:611174
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Kanzaki Disease	Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Vertigo, Sensorineur...	OMIM:609242
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Edema, Lymphedema, Skin ulcer, Panniculitis, Thick vermilion border, Chylothorax, Leukemia, Scali...	ORPHA:2526
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Sparse eyelashes, Hyperpigmentation of the skin, Nasolacrimal duct...	OMIM:224230
Bartter Syndrome Type 4	Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki...	ORPHA:89938
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Chordee, Hypospadias, Renal dysplasia	ORPHA:96179
Adrenocortical Carcinoma	Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Increased body weight, Weight l...	ORPHA:1501
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal insufficiency, Redundant neck skin, Hypospadias, Renal cortical cysts, Hyperechogenic kidne...	ORPHA:397715
Bardet-Biedl Syndrome 6	Vaginal atresia, Hypospadias, External genital hypoplasia	OMIM:605231
Bardet-Biedl Syndrome 17	Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst	OMIM:615994
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Autoimmunity, Parathormone-independent increased renal t...	ORPHA:405
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Renal cyst, Webbed neck	OMIM:617478
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Multinodular goiter, Scaling skin, Premature loss of teeth, Dry skin	OMIM:618373
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Laterally extended eyebrow, Posteriorly rotated ears, Synophrys, Gait ataxia, Protruding ear, Ker...	OMIM:618479
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Peripheral axonal neurop...	ORPHA:254930
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia	OMIM:267400
Leprosy	Epistaxis, Abnormality of the spleen, Testicular mass, Penetrating foot ulcers, Uveitis, Hypohidr...	ORPHA:548
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Bronchiolitis, Thrombocytopenia	OMIM:230900
Kleefstra Syndrome Due To 9Q34 Microdeletion	Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis	ORPHA:96147
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Steatorrhea, Exocrine panc...	ORPHA:309031
Adult Syndrome	Dry skin, Thin skin, Skin ulcer	ORPHA:978
Pancreatoblastoma	Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Exstrophy-Epispadias Complex	Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k...	ORPHA:322
Smith-Magenis Syndrome	Synophrys, Increased body weight	OMIM:182290
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypocalciuria, Peripheral hypomyelination, Chronic axonal...	OMIM:612780
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Urinary incontinence, Dental crowding, Asplenia, Cleft hard palate, Short ...	ORPHA:261537
Cholera	Abnormality of renal excretion, Aspiration pneumonia, Palmoplantar cutis laxa, Acute kidney injur...	ORPHA:173
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Dilated cardiomyop...	OMIM:300952
Distal Deletion 10Q	Patent ductus arteriosus, Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesi...	ORPHA:96148
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Intractable diarrhea, Arthrogryposis multiplex congenita, Axillary pter...	OMIM:226730
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Camptobrachydactyly	Septate vagina	ORPHA:1319
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Low-set ears, Overf...	OMIM:619339
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:99880
Pyomyositis	Recurrent cutaneous abscess formation, Renal insufficiency, Myositis	ORPHA:764
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Mowat-Wilson Syndrome	Bicuspid aortic valve, Urinary incontinence, Dental crowding, Asplenia, Cleft hard palate, Widely...	ORPHA:2152
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Hepatomegaly, Peripheral axonal neuropath...	ORPHA:2388
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Camptobrachydactyly	Septate vagina	OMIM:114150
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos...	ORPHA:143
Classic Progressive Supranuclear Palsy Syndrome	Neuromuscular dysphagia, Blepharospasm, Social and occupational deterioration, Mental deteriorati...	ORPHA:240071
Meacham Syndrome	Accessory spleen, Septate vagina, Male pseudohermaphroditism, Patent ductus arteriosus, Blind vag...	OMIM:608978
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Recurrent pneumonia, Pyelonephritis, Urethral diverticulum, M...	ORPHA:90349
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer	ORPHA:79140
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux	ORPHA:140952
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
Okamoto Syndrome	Redundant neck skin, Tented upper lip vermilion, Urinary incontinence, Primum atrial septal defec...	ORPHA:2729
Wolfram Syndrome 2	Abnormal bleeding, Neurogenic bladder, Optic neuropathy, Sensorineural hearing impairment, Optic ...	OMIM:604928
Bardet-Biedl Syndrome 12	Hypogonadism, Hydrometrocolpos, Vaginal atresia	OMIM:615989
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Mechanical ileus, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Midgut...	ORPHA:100079
Camptodactyly Syndrome, Guadalajara, Type Iii	Small hypothenar eminence, Telecanthus, Abnormal pinna morphology, Symblepharon, Torticollis, Sma...	OMIM:611929
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a...	OMIM:619743
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease	OMIM:620366
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney	ORPHA:459061
Mckusick-Kaufman Syndrome	Cryptorchidism, Patent ductus arteriosus, Hydrometrocolpos, Glandular hypospadias, Urogenital sin...	ORPHA:2473
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1454
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Dental crowding, Asplenia, Cleft hard palate, Short ...	ORPHA:261552
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Sensory axonal neuropathy, ...	OMIM:618733
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Proteinuria, Intestinal malrotation, Hiatus hernia, Precocious puberty...	OMIM:616682
Currarino Syndrome	Septate vagina, Perianal abscess, Chronic constipation, Bicornuate uterus, Rectovaginal fistula	OMIM:176450
Duplication Of Urethra	Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch...	ORPHA:237
Familial Multinodular Goiter	Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Renal cell carcinoma, Thyroid carcinoma, ...	ORPHA:276399
Homozygous Familial Hypercholesterolemia	Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Familial Dysautonomia	Glomerulopathy, Renal insufficiency, Abnormality of the kidney	ORPHA:1764
Mercury Poisoning	Interstitial pneumonitis, Acute kidney injury	ORPHA:330021
Kindler Syndrome	Telangiectasia of the skin, Symblepharon, Phimosis, Corneal erosion, Urethral stenosis, Spotty hy...	OMIM:173650
Meckel Syndrome, Type 7	Patent ductus arteriosus, Multicystic kidney dysplasia, Multiple glomerular cysts, Stage 5 chroni...	OMIM:267010
Mitochondrial Complex I Deficiency, Nuclear Type 29	Stage 5 chronic kidney disease, Lacticaciduria	OMIM:618250
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Posteriorly rotated ears, Elbow contracture, Multiple pterygia, Hearing impairme...	OMIM:178110
Mend Syndrome	Telecanthus, Cataract, Abnormal auditory evoked potentials, Cryptorchidism, Spotty hypopigmentati...	ORPHA:401973
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Renal cyst, Atrial septal defect, Hepatoblastoma, Exaggerated median tongue furro...	OMIM:312870
Muir-Torre Syndrome	Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Colon ca...	ORPHA:587
Glossopharyngeal Neuralgia	Autoimmunity, Oral-pharyngeal dysphagia, Vascular dilatation, Jaw claudication, Syncope, Bradycar...	ORPHA:221098
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ...	ORPHA:209902
Benign Schwannoma	Intestinal polyposis, Abnormality of the liver, Abnormality of the adrenal glands, Abnormal parot...	ORPHA:252164
Sotos Syndrome	Sparse eyebrow, Cryptorchidism, Increased body weight, Overgrowth, Prolonged neonatal jaundice, H...	OMIM:117550
Arachnoiditis	Urinary bladder sphincter dysfunction, Meningitis	ORPHA:137817
Blue Diaper Syndrome	Increased body weight	ORPHA:94086
Hereditary Fructose Intolerance	Renal insufficiency, Chronic kidney disease	ORPHA:469
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Abnormal renal morphology	ORPHA:477817
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Skin ulcer, Lymphadenopathy, Neoplasm ...	ORPHA:424016
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis	OMIM:181270
Cranioectodermal Dysplasia 3	Dry skin, Stage 5 chronic kidney disease, Nephronophthisis, Cutis laxa	OMIM:614099
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy	OMIM:300707
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Renal insufficiency	OMIM:226980
Colchicine Poisoning	Myocarditis, Renal insufficiency, Oliguria	ORPHA:31824
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Stage 5 chronic kidney disease, Renal cyst, Cutis laxa, Thin s...	OMIM:266920
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Fetal Akinesia Deformation Sequence	Multiple joint contractures, Posteriorly rotated ears, Camptodactyly of finger, Cryptorchidism, G...	ORPHA:994
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Atrial septal defect, Epicanthus, Torticollis, Hypospadias, Hearing impairment, Cryptorchidism, C...	OMIM:609945
Camptodactyly Syndrome, Guadalajara Type 3	Telecanthus, Abnormal pinna morphology, Symblepharon, Micropenis, Sternocleidomastoid amyotrophy,...	ORPHA:488434
Treacher Collins Syndrome 1	Cleft soft palate, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide mouth, Abnormal ...	OMIM:154500
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers	OMIM:201300
Craniofacial Microsomia 1	Ectopic kidney, Anotia, Limbal dermoid, Conductive hearing impairment, Vesicoureteral reflux, Dup...	OMIM:164210
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease	ORPHA:25
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Polyhydramnios, Accessory oral frenulum, Splenomegaly, Supernumer...	OMIM:617088
Leukonychia Totalis	Abnormal eyelash morphology, Blepharitis, Nephrolithiasis	ORPHA:2387
Hermansky-Pudlak Syndrome	Hyperkeratosis, Renal insufficiency	ORPHA:79430
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Hypotriglyceridemia, Decreased circulating apolipoprotein B concentration, Ac...	OMIM:256840
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Arteriosclerosis, Severe Juvenile	Chronic kidney disease	OMIM:208060
Perlman Syndrome	Renal hamartoma, Large for gestational age, Cryptorchidism, Nephroblastomatosis, Pancreatic islet...	OMIM:267000
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Dyssegmental Dysplasia, Silverman-Handmaker Type	Posteriorly rotated ears, Cryptorchidism, Flexion contracture, Developmental cataract, Abnormal h...	ORPHA:1865
Ferguson-Bonni Neurodevelopmental Syndrome	High palate, Patent foramen ovale, Coronary-pulmonary artery fistula	OMIM:619699
Grange Syndrome	Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,...	OMIM:602531
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Cryptorchidism, Increased body weight, Abdominal obesity, Small pituita...	ORPHA:398069
Autosomal Recessive Omodysplasia	Cryptorchidism, Pterygium, Posteriorly rotated ears, Low-set ears	ORPHA:93329
Serotonin Syndrome	Acute kidney injury	ORPHA:43116
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Abnormality of the dentition, Carious teeth, Splenomegaly, ...	ORPHA:93
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Onion bulb formation, Optic neuropathy	ORPHA:320375
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Autosomal Dominant Cutis Laxa	Bladder diverticulum, Bronchiectasis, Unilateral renal agenesis, Pyelonephritis	ORPHA:90348
Neu-Laxova Syndrome	Skeletal muscle atrophy, Cataract, Abnormal nasolacrimal system morphology, Abnormal eyelid morph...	ORPHA:2671
Aromatase Deficiency	Macroorchidism, postpubertal, Eunuchoid habitus, Enlarged polycystic ovaries, Cryptorchidism, Obe...	ORPHA:91
Fanconi Anemia	Renal insufficiency, Hydroureter, Hypospadias, Recurrent urinary tract infections, Abnormal prepu...	ORPHA:84
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hypoplastic labia majora, Vaginal atresia, Fused labia minora	OMIM:207410
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Decreased number of small peripheral myelinated nerve fibers, Osteomyelitis	OMIM:256800
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Micropenis, Uterus didelphys, Septate vagina	OMIM:617925
Bruck Syndrome 1	Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, ...	OMIM:259450
Juvenile Xanthogranuloma	Hyphema, Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Multiple c...	ORPHA:158000
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cryptorchidism, Pterygium, Cataract, Posteriorly rotated ears	OMIM:224410
Manitoba Oculotrichoanal Syndrome	Vaginal atresia, Nasolacrimal duct obstruction	OMIM:248450
Charcot-Marie-Tooth Disease Type 4C	Decreased number of peripheral myelinated nerve fibers, Facial paralysis, Optic atrophy, Demyelin...	ORPHA:99949
Apert Syndrome	Acne, Cryptorchidism, Hyperhidrosis, Chronic otitis media, Vaginal atresia	OMIM:101200
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Vaginal atresia	ORPHA:3301
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil...	OMIM:614527
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:218330
Scorpion Envenomation	Acute pancreatitis, Ketonuria, Myocarditis, Erythema, Glycosuria, Acute kidney injury, Purpura	ORPHA:466677
Cherubism	Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multiple impacted tee...	OMIM:118400
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease	ORPHA:2752
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Multinodular goiter, Adenocarcinoma of the colon	OMIM:620189
Au-Kline Syndrome	Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis	OMIM:616580
Bardet-Biedl Syndrome 1	Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Decreased testicular size	OMIM:209900
Bruck Syndrome	Arthrogryposis multiplex congenita, Pterygium	ORPHA:2771
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Knee flexion contracture	OMIM:620232
Microphthalmia, Syndromic 2	Hypospadias, Septate vagina, Cryptorchidism, Patent ductus arteriosus, Adrenal insufficiency, Hyp...	OMIM:300166
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections, Pneumonia	ORPHA:99104
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Degcags Syndrome	Recurrent urinary tract infections, Hypospadias, Pneumonia, Bilateral renal dysplasia, Abnormal r...	OMIM:619488
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Costello Syndrome	Renal insufficiency, Redundant neck skin, Webbed neck	OMIM:218040
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Red eye, Posterior synechiae of the anterior chamber	ORPHA:280921
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections, Pneumonia	ORPHA:99103
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Bilateral cryptorchidism, Recurrent pneumonia, Hydrometrocolpos, Hypohidrosis,...	OMIM:150230
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Pterygium, Joint contracture, Hypoplasia of the musculature	OMIM:225790
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Ant...	OMIM:616503
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Chronic kidney disease, Recurrent Staphylococcus aureus infect...	ORPHA:642
Neu-Laxova Syndrome 1	Ablepharon, Cataract, Renal agenesis, Ventricular septal defect, Absent eyelashes, Cryptorchidism...	OMIM:256520
Neurooculorenal Syndrome	Hypoplasia of the bladder, Unilateral renal agenesis, Stage 2 chronic kidney disease, Stage 5 chr...	OMIM:620305
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Basal lamina onion bulb formation, Demyelinating peripheral neuropathy	ORPHA:2821
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria	OMIM:124000
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Adrenal gland agenesis, Va...	OMIM:273395
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Imperforate hymen, Bic...	OMIM:181450
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Dry skin	ORPHA:466650
Chand Syndrome	Imperforate hymen, Hypohidrosis	ORPHA:1401
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Delayed peripheral myelination	ORPHA:364577
Adams-Oliver Syndrome 1	Polymicrogyria, Pachygyria, Imperforate hymen, Supernumerary nipple	OMIM:100300
Fraser Syndrome 1	Hypospadias, Abnormal cortical gyration, Cryptorchidism, Bicornuate uterus, Micropenis, Vaginal a...	OMIM:219000
Sacral Defect With Anterior Meningocele	Meningitis, Neurogenic bladder, Urinary retention, Rectal abscess	OMIM:600145
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Vesicoureter...	ORPHA:199
Waardenburg Syndrome, Type 1	Aplasia of the vagina	OMIM:193500
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis...	ORPHA:821
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,...	OMIM:107480
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen...	ORPHA:2052
Pituitary Dermoid And Epidermoid Cysts	Meningitis	ORPHA:91351
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Chordee, Dysphagia, Hema...	OMIM:619522
Eisenmenger Syndrome	Patent ductus arteriosus, Renal insufficiency, Bacterial endocarditis	ORPHA:97214
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena...	ORPHA:2044
Hydranencephaly	Meningitis, Optic nerve hypoplasia	ORPHA:2177
Kyphomelic Dysplasia	Pterygium, Low-set ears	OMIM:211350
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Cataract, Poliosis, Abnormal eyelash morphology, Sensorineural heari...	ORPHA:3437
Pallister-Killian Syndrome	Anhidrosis, Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Patent ductus arter...	OMIM:601803

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 Fas

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 Fas.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Nuclear-encoded mitochondrial ribosomal proteins are required to initiate gastrulation.	Development (Cambridge, England) (May 2020)	Fastkd5^{tm1.1(KOMP)Vlcg}	32376682
Essentiality of fatty acid synthase in the 2D to anchorage-independent growth transition in transforming cells.	Nature communications (November 2019)	Fasn^{tm1a(KOMP)Wtsi}	PMC6825217
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression.	PLoS genetics (February 2016)	Fastk^{tm1(KOMP)Vlcg}	PMC4739719

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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