Genes Phenotypes Help, News, Blog

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

Gene: Fasl MGI:99255

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

Fas ligand

Synonyms:

Fasl, CD95L, CD178, APT1LG1, Tnfsf6, Fas-L

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 Fasl 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 Fasl (3 diseases)
Human diseases predicted to be associated with Fasl (1853 diseases)

The table below shows human diseases associated to Fasl 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, L...	ORPHA:3261
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980

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

Disease	Matching phenotypes	Source
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th...	OMIM:618534
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:601859
Uridine-Cytidineuria	Elevated urinary uridine level, Elevated urinary cytidine	OMIM:618477
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmunity, Lympho...	OMIM:618495
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
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
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant...	OMIM:603909
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Rheumatoid factor positive, Pneumo...	OMIM:209950
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio...	OMIM:615897
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ...	OMIM:618048
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Activated Pi3K-Delta Syndrome	Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymph...	ORPHA:397596
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node germinal cen...	ORPHA:277
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre...	OMIM:619773
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ...	ORPHA:169154
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, R...	OMIM:619632
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Desquamative inte...	OMIM:615952
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo...	OMIM:308240
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Genital edema, Autoimmunity, Absent peripheral lymph nodes in presence of infection, Abnormal imm...	ORPHA:98813
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmunity, Fol...	OMIM:614470
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Autoimmunity, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged t...	OMIM:616005
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Decreased serum iron, Increas...	OMIM:212050
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula...	OMIM:614420
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage...	OMIM:613496
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Increa...	OMIM:605258
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Autoimmunity, Decreased circu...	OMIM:609529
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l...	ORPHA:37748
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Myositis, Antiphospholipid antibody positivity, Rheumatoid fact...	OMIM:615934
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Mediastinal lymphadenopathy, Dyspnea, ...	ORPHA:60026
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Autoimmunity, Micro...	ORPHA:567544
Immunodeficiency, Common Variable, 2	Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recur...	OMIM:240500
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton...	OMIM:613779
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Lymphoma, Increased circulating beta-2-microglobulin level, Multiple myeloma, Cryoglobulinemia, M...	ORPHA:209004
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD...	OMIM:619846
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ...	ORPHA:329918
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I...	OMIM:613652
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli...	OMIM:617241
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly...	OMIM:618987
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ...	OMIM:618459
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, L...	ORPHA:3261
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder	OMIM:242880
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Anti-thyroid peroxidase antibody positivity, Iron deficiency anem...	ORPHA:37042
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ...	OMIM:617388
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Acne, Recurrent skin infections, Ap...	OMIM:300635
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibo...	OMIM:618394
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Lymphopenia, Psoriasiform dermatitis, Atrophic gastrit...	OMIM:616100
Immunodeficiency 40	Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphoc...	OMIM:616433
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG...	ORPHA:2137
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, ...	ORPHA:443811
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma...	ORPHA:2688
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce...	OMIM:617638
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increase...	OMIM:617099
Immunodeficiency 20	Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se...	OMIM:615707
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
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
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase...	OMIM:304790
Immunodeficiency 37	Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent...	OMIM:616098
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom...	ORPHA:444463
Igg4-Related Aortitis	Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula...	ORPHA:449400
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease...	OMIM:613493
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl...	OMIM:618852
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Inflammat...	OMIM:615767
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Abnormal T cell count, Abnormal B cell count, Autoimmu...	ORPHA:331206
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Increased circulating IgE level...	OMIM:243700
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ...	OMIM:300755
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recur...	OMIM:614493
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Chronic decreased circulating total IgG	OMIM:613495
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper...	OMIM:613101
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy...	OMIM:613953
Cernunnos-Xlf Deficiency	Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho...	ORPHA:169079
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc...	ORPHA:555905
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen...	OMIM:269840
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Thymoma	Myositis, Aplastic anemia, Abnormal lymphocyte proliferation, Pure red cell aplasia, Anti-acetylc...	ORPHA:99867
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Lymphopenia, Recurrent herpes, Pneumonia, Eosinophilia, Recurrent pneum...	ORPHA:169160
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased...	OMIM:618986
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec...	OMIM:615122
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i...	OMIM:614699
Lymphoproliferative Syndrome 1	Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Stomatitis, Autoimmunity, Autoimmune thr...	OMIM:613011
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Immunodeficiency 50	Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Neutropenia, Lymp...	OMIM:300988
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe...	OMIM:618261
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr...	ORPHA:100024
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Cholangitis, Autoimmunity, Retroperitoneal fibrosis, Increased...	ORPHA:449432
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly...	OMIM:608184
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med...	ORPHA:572
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Oral ulcer, Chronic mucocutaneous candidiasis, Lym...	OMIM:608971
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati...	OMIM:615285
Complement Component 4A Deficiency	Systemic lupus erythematosus, Glomerulonephritis, Reduced hemolytic complement activity, Decrease...	OMIM:614380
Boutonneuse Fever	Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymphadenopathy, Increased circulat...	ORPHA:83313
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy...	ORPHA:133
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe...	OMIM:233650
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of CD4+...	OMIM:606367
Simple Cryoglobulinemia	Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Mesangial hypercellularity, ...	ORPHA:91139
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno...	OMIM:602450
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Increased circulating I...	OMIM:618282
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, B-cell lymphoma, ...	OMIM:102700
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro...	OMIM:619752
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,...	OMIM:226990
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutane...	OMIM:147060
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl...	OMIM:614372
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath...	OMIM:301078
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti...	OMIM:618523
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Eczema, Oligoarthritis, Decreased circulating total IgM, T lymphocytopenia, Decrease...	OMIM:619510
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ...	ORPHA:540
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Hypoalbuminemia, Meningitis, Infectious encephalitis, Hyponatremia, Hepatomegaly, Hep...	OMIM:603553
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:608709
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,...	OMIM:608898
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos...	OMIM:260920
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng...	ORPHA:3392
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Rhe...	OMIM:615816
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla...	OMIM:619858
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Pruritus, Splenomegaly, L...	ORPHA:3162
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Increased circulating IgE level, Recurrent pneumonia	OMIM:616069
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Dyspnea, Angioedema, Myocarditis, Hepatitis, Erythroderma, Lymp...	ORPHA:139402
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Impaired T cell function, Pure red cell aplasia, Autoimmu...	OMIM:613179
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Increased circulating IgE level	ORPHA:89843
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,...	OMIM:308220
Immunodeficiency 22	Pericarditis, Autoimmunity, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infectio...	OMIM:615758
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al...	OMIM:245480
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:613494
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Abnormal morphology of female inter...	OMIM:193670
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Arthritis, Infectious encephalitis	ORPHA:42642
Igg4-Related Kidney Disease	Rheumatoid factor positive, Lymphadenitis, Abnormal lung morphology, Pedal edema, Increased circu...	ORPHA:449395
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat...	ORPHA:562639
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,...	ORPHA:411593
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop...	OMIM:616022
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N...	OMIM:105200
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Nephrotic Syndrome, Type 22	Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne...	OMIM:619155
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Complement Component 4B Deficiency	Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin...	OMIM:614379
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural k...	OMIM:616050
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Meningiti...	ORPHA:292
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Recurrent herpes, Herpes simplex encephalitis	OMIM:610551
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Decreased proportion of class-switche...	OMIM:619126
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Chronic...	OMIM:242860
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi...	ORPHA:84090
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Crackles, Nonproductive cough, Leukocytosis, Increased circulating IgE level, Hyper...	ORPHA:2902
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Peeling Skin Syndrome 1	Pruritus, Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Immunodeficiency 43	Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,...	OMIM:241600
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia	OMIM:616941
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Edema, Pedal edema, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Crigler-Najjar Syndrome	Jaundice, Abnormality of the liver, Infectious encephalitis	ORPHA:205
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D...	ORPHA:275
Dietary Iron Overload Disease	Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Chronic infection, Increased circulating...	ORPHA:139507
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Autoimmunity, Portal hypertension, Increased circulatin...	ORPHA:186
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De...	OMIM:614069
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Complement Component C1R/C1S Deficiency	Autoimmunity, Discoid lupus rash, Arthritis, Complement deficiency, Nephritis	OMIM:216950
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Asthma, Recu...	OMIM:617585
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Avian Influenza	Elevated hepatic transaminase, Pneumonia, Elevated circulating creatine kinase concentration, Ele...	ORPHA:454836
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Lymphopenia, Recurrent respiratory infections, Recurrent skin infections, Splenomeg...	OMIM:620210
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Blepharitis, Erythroderma	OMIM:614328
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot...	OMIM:601457
Zika Virus Disease	Maculopapular exanthema, Skin rash, Thrombocytopenia, Meningitis, Acute demyelinating polyneuropa...	ORPHA:448237
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice...	ORPHA:36234
Panniculitis-Induced Localized Lipodystrophy	Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira...	OMIM:310350
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas...	OMIM:618108
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane...	OMIM:617780
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Meningitis, Increased circulating I...	ORPHA:1163
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Dehydration, Decreased c...	ORPHA:33355
Postinfectious Vasculitis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Gastrointestin...	ORPHA:48435
Insulin-Resistance Syndrome Type B	Osteoarthritis, Increased circulating IgG level, Leukopenia, Hypoalbuminemia, Hypotriglyceridemia...	ORPHA:2298
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce...	OMIM:618935
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interstitial pneumoniti...	OMIM:127550
Immunodeficiency 56	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Pneumocystis...	OMIM:615207
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypoproteinemia, Hypertrigly...	OMIM:267700
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Cardiomegaly, Antinuclear antibody ...	ORPHA:99931
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi...	ORPHA:289390
Atypical Hemolytic Uremic Syndrome	Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s...	ORPHA:2134
Brucellosis	Liver abscess, Rheumatoid factor positive, Bronchitis, Knee osteoarthritis, Increased circulating...	ORPHA:1304
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Increased circulating IgA level, Peritonitis, Lymphadenopathy, Arthritis, Recurrent...	ORPHA:343
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Netherton Syndrome	Skin rash, Eczema, Ectopic kidney, Increased circulating IgE level, Decreased circulating antibod...	ORPHA:634
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom...	OMIM:607624
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natu...	OMIM:615214
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s...	OMIM:618999
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7	Herpes simplex encephalitis	OMIM:616532
Subcorneal Pustular Dermatosis	Autoimmunity, Pruritus, Pustule, Systemic lupus erythematosus, Increased circulating antibody lev...	ORPHA:48377
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Autoimmunity, Decreased circulating complement C3 concentration, Lym...	ORPHA:79087
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec...	ORPHA:47
Subacute Inflammatory Demyelinating Polyneuropathy	Limitation of movement at ankles, Symmetric peripheral demyelination, Demyelinating motor neuropa...	ORPHA:206594
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
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Netherton Syndrome	Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Hypereosin...	OMIM:256500
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Immunodeficiency 96	Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T...	OMIM:619774
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
Tempi Syndrome	Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ...	ORPHA:284227
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser...	OMIM:231100
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Immunodeficiency, Common Variable, 13	Pancytopenia, Polyhydramnios, Decreased circulating antibody level, Acute lymphoblastic leukemia,...	OMIM:616873
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Elevated circ...	ORPHA:829
Trichothiodystrophy 3, Photosensitive	Abdominal adhesions, Lymphopenia, Neutropenia, Increased circulating IgA level	OMIM:616395
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
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
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ...	ORPHA:183675
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Systemic Lupus Erythematosus	Lupus nephritis, Oral ulcer, Leukopenia, Decreased circulating complement C4 concentration, Seros...	ORPHA:536
Agammaglobulinemia 5, Autosomal Dominant	Agammaglobulinemia	OMIM:613506
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Autoimmunity, Increased circulating IgG4 level, Increased circulating ...	ORPHA:79078
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Proteinuria, E...	OMIM:614034
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur...	ORPHA:47612
Legionnaires Disease	Hyponatremia, Pericarditis, Myocarditis, Splenomegaly, Jaundice, Recurrent pharyngitis, Hepatitis...	ORPHA:549
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Lymphadenopathy, Arthritis...	ORPHA:69126
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Primary Intestinal Lymphangiectasia	Lymphopenia, Generalized edema, Peritoneal effusion, Edema, Pericardial effusion, Decreased circu...	ORPHA:90362
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Herpes simplex encephalitis, Meningitis	OMIM:617900
Common Variable Immunodeficiency	Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Decrea...	OMIM:615577
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:567548
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Macrophage Activation Syndrome	Increased inflammatory response, Hepatomegaly, Hypertriglyceridemia, Elevated circulating asparta...	ORPHA:158061
Hypotrichosis Simplex Of The Scalp	Pruritus, Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis	ORPHA:90368
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Immunodeficiency 46	Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Decr...	OMIM:616740
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
C1Q Deficiency 3	Discoid lupus rash, Recurrent bacterial meningitis	OMIM:620322
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Camptodactyly of finger, Cryptorchidism, Flexion contracture, Hyperamm...	ORPHA:1194
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ...	OMIM:617744
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia...	ORPHA:470
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Thrombocytope...	OMIM:617303
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Viral encephalitis	OMIM:619441
Q Fever	Respiratory distress, Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Cough,...	ORPHA:781
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Immunodeficiency 83, Susceptibility To Viral Infections	Herpes simplex encephalitis, Meningitis	OMIM:613002
L-2-Hydroxyglutaric Aciduria	Infectious encephalitis	ORPHA:79314
Hypersulfaturia	Increased urinary sulfate, Nephrolithiasis	OMIM:620372
Pediatric Systemic Lupus Erythematosus	Myositis, Oral ulcer, Leukopenia, Decreased circulating complement C4 concentration, Lupus antico...	ORPHA:93552
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni...	OMIM:618116
Omenn Syndrome	Hepatomegaly, Pneumonia, Eosinophilia, Autoimmunity, Pruritus, Splenomegaly, Leukocytosis, Lympho...	ORPHA:39041
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne...	OMIM:614868
Paraparetic Variant Of Guillain-Barré Syndrome	Recurrent acute respiratory tract infection, Peripheral axonal neuropathy, Peripheral demyelination	ORPHA:231445
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczematoid dermatitis, Thr...	OMIM:619693
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Systemic lupus erythematosus, Leukopen...	OMIM:616871
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Myositis, Sinusitis, Skin rash, Periorbital edema, Splenomegaly, Thrombocytopenia, ...	OMIM:617591
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Eczema, Splenomegaly, Thrombocytopenia, Asthma, Recurrent pne...	OMIM:170100
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa...	ORPHA:79124
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Abnormal urinary color, Autoimmunity, Splenomegaly, Lymphadenopathy	ORPHA:56425
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia	OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Edema, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Conjun...	OMIM:603552
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Antinuclear antibody positiv...	OMIM:620321
Pyoderma Gangrenosum	Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant...	ORPHA:48104
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Increased circulating IgE level, Abnormality of the ureter	ORPHA:3409
Sneddon Syndrome	Decreased circulating total IgM, Antiphospholipid antibody positivity, Lymphopenia	OMIM:182410
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Au...	ORPHA:229717
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Immunodeficiency 67	Transient neutropenia, Increased circulating IgE level, Liver abscess	OMIM:607676
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L...	OMIM:618213
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br...	OMIM:608957
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Increased circulating IgE level, Lympho...	ORPHA:2314
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Thrombocytopenia 1	Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me...	OMIM:313900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:607734
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ...	ORPHA:100026
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g...	ORPHA:1830
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Proteinuria, Circulating immu...	ORPHA:91138
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Interstitial Lung Disease 2	Dyspnea, Pulmonary arterial hypertension, Alveolar cell carcinoma, Increased circulating antibody...	OMIM:178500
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an...	OMIM:616414
Variant Abeta2M Amyloidosis	Intestinal perforation, Chronic kidney disease, Abnormality of the tongue, Hepatic amyloidosis, R...	ORPHA:314652
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Typhoid	Skin rash, Hepatomegaly, Infectious encephalitis, Splenomegaly	ORPHA:99745
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th...	ORPHA:454831
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Antiphospholipid antibody positivity, Rheumat...	ORPHA:90060
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytop...	ORPHA:391487
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi...	OMIM:615387
Immunodeficiency 58	Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Dysuria,...	OMIM:618131
Reynolds Syndrome	Hepatomegaly, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, Infectious e...	ORPHA:779
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio...	OMIM:613860
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I...	OMIM:615508
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Melioidosis	Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl...	ORPHA:31202
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody...	ORPHA:93126
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Myeloma, Multiple	Paraproteinemia, Multiple myeloma	OMIM:254500
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal edema, Lymphad...	ORPHA:381
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Sepsis, Abnormal fall...	ORPHA:2552
Scrub Typhus	Anterior uveitis, Skin rash, Myocarditis, Splenomegaly, Meningitis, Infectious encephalitis	ORPHA:83317
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration...	OMIM:620378
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Spastic Ataxia-Corneal Dystrophy Syndrome	Decreased circulating antibody level	ORPHA:2572
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Hemochromatosis, Type 3	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc...	OMIM:604250
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Thrombocytopenia, Jaundice, Severe viral infection, Hep...	ORPHA:319251
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Lymphedema, Splenomega...	ORPHA:3226
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Onion bulb formation, Decreased phosphoribosylpyrophosphate synthetase level, Segm...	OMIM:311070
Neuromyelitis Optica Spectrum Disorder	Optic neuritis, Peripheral demyelination, Myelitis	ORPHA:71211
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Hepatomegaly	ORPHA:417
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Functional abnormality of the bladder	OMIM:300076
Krabbe Disease	Abnormal flash visual evoked potentials, Autoimmune thrombocytopenia, Optic atrophy, Reduced gala...	OMIM:245200
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly	ORPHA:79238
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Carcinoid Syndrome	Elevated hepatic transaminase, Hepatic necrosis, Pulmonary carcinoid tumor, Small intestine carci...	ORPHA:100093
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Nipah Virus Disease	Recurrent pharyngitis, Infectious encephalitis	ORPHA:99825
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity, Oral mucosal blisters	OMIM:169610
Lyme Disease	Arthritis, Infectious encephalitis, Uveitis, Meningitis	ORPHA:91546
Roifman Syndrome	Eosinophilia, Eczema, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased circula...	ORPHA:353298
Phenylketonuria	Aminoaciduria	ORPHA:716
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen...	OMIM:606483
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Myocarditis, Splenomegaly, Uveitis, Arthritis...	ORPHA:3452
Listeriosis	Stiff neck, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Co...	ORPHA:533
Graft Versus Host Disease	Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Stiff interphalangeal...	ORPHA:39812
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,...	OMIM:608233
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma, Pruritus	ORPHA:280785
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis, Autoimmunity	ORPHA:98827
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Thin upper lip vermilion, Proteinuria, Glomerulonephritis, Supernumerary nipple, St...	OMIM:614376
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Igg4-Related Ophthalmic Disease	Sinusitis, Elevated circulating C-reactive protein concentration, Cholangitis, Increased circulat...	ORPHA:449563
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro...	OMIM:618348
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy	ORPHA:86893
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect...	ORPHA:169105
Neonatal Alloimmune Neutropenia	Pneumonia, Severe infection, Jaundice, Sepsis, Neutropenia in presence of anti-neutropil antibodi...	ORPHA:464370
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec...	OMIM:301045
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Myelin outfoldings, Onion bulb formation,...	OMIM:118200
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Howell-Jolly bodies, Abnormality of the kidney, Proteinuria, R...	ORPHA:85443
Lassa Fever	Increased circulating IgM level, Jaundice, Conjunctivitis, Oliguria	ORPHA:99824
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor...	ORPHA:98848
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Hypoalbuminemia...	ORPHA:171
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Immunodeficiency 66	Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis	OMIM:618847
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Bronchiectasis	OMIM:615139
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An...	ORPHA:64744
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Burkitt Lymphoma	Intestinal obstruction, Abnormality of the spleen, Abnormality of the pancreas, Abnormality of th...	ORPHA:543
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti...	OMIM:233710
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Peripheral axonal neuropath...	OMIM:205400
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2668
Preeclampsia	Elevated hepatic transaminase, Proteinuria, Autoimmunity, Abnormality of the kidney, Chronic kidn...	ORPHA:275555
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti...	OMIM:601495
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Lymphadenopathy	ORPHA:99976
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel...	OMIM:614895
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level, Functional abnormality of the bladder	ORPHA:2571
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop...	OMIM:214400
Meningococcal Meningitis	Papilledema, Stiff neck, Skin rash, Elevated circulating C-reactive protein concentration, Sepsis...	ORPHA:33475
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Pericardial effusion, ...	ORPHA:77259
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ...	ORPHA:228123
Autosomal Dominant Severe Congenital Neutropenia	Osteopenia, Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections...	ORPHA:486
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophils, Periorbital edema, Spleno...	ORPHA:33226
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Lead Poisoning	Decreased HDL cholesterol concentration, Skin rash, Increased circulating IgE level, Chronic kidn...	ORPHA:330015
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i...	OMIM:614172
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased...	OMIM:275350
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
American Trypanosomiasis	Hepatomegaly, Skin rash, Myocarditis, Splenomegaly, Infectious encephalitis	ORPHA:3386
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h...	OMIM:619767
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Asthma, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased ci...	OMIM:619750
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination, Hypermethioninemia	OMIM:250850
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti...	OMIM:233690
Lymphatic Filariasis	Proteinuria, Abnormality of the kidney, Glomerulonephritis, Orchitis, Lymphadenitis, Circulating ...	ORPHA:2035
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals...	OMIM:118210
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir...	ORPHA:101330
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Skin ...	ORPHA:36412
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:145900
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa...	ORPHA:85414
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,...	OMIM:607765
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly, Optic atrophy	OMIM:611721
Neutropenia, Severe Congenital, X-Linked	Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio	OMIM:300299
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Hypertrophic nerve changes, Onion bulb fo...	OMIM:180800
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Complement Component 8 Deficiency, Type I	Meningitis	OMIM:613790
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	ORPHA:90003
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec...	ORPHA:319552
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Persistence of primary teeth, Hem...	ORPHA:375
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:118220
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD...	OMIM:615607
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas	OMIM:134610
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Dysp...	ORPHA:98826
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Hepatitis	ORPHA:363523
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto...	OMIM:251880
Systemic Lupus Erythematosus 17	Lymphopenia, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Thrombocytopenia, Syst...	OMIM:301080
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ...	ORPHA:158057
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Eosinophilia, Myeloproliferative disorder, Hepatomegaly	OMIM:607685
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Cardiomegaly, Microcytic anemia, Increased cir...	OMIM:256040
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Abnormal lung morpholog...	ORPHA:449427
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Neoplasm of head and neck, Goiter, Breast carcinoma, Abnor...	ORPHA:97290
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphedema, Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid factor positive, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers, Gonadal dysgenesis, Hypergonadotropic hyp...	OMIM:607080
Niemann-Pick Disease, Type B	Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Splenomegaly, Thrombocyto...	OMIM:607616
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Acute Erythroid Leukemia	Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia	ORPHA:318
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B...	OMIM:615518
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno...	OMIM:181000
Acquired Ichthyosis	Renal insufficiency, Recurrent skin infections, Autoimmunity, Pruritus, Lymphoma, Neoplasm, Multi...	ORPHA:454
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Proteinuria, Glomerulonephritis, Gingival overgrowth, Nephrotic syndrome, Long philt...	OMIM:619428
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Onion bulb formation, Peripheral demyelination, Axonal regeneration	OMIM:615185
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a...	OMIM:121300
Immunodeficiency 12	Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,...	OMIM:615468
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Decreased testicular size, Hypogonadotropic hypogonadism, Hypergo...	OMIM:604168
Cryoglobulinemia, Familial Mixed	Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology	OMIM:123550
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacc...	OMIM:215250
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Hype...	OMIM:201475
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Meningitis, Optic atrophy, Unusual CNS infection, Incr...	ORPHA:447788
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation	OMIM:182815
Nocardiosis	Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, P...	ORPHA:31204
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Cinca Syndrome	Papilledema, Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leuk...	OMIM:607115
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,...	OMIM:266265
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Flexion contracture, Axonal loss, Clusters of axonal regeneration...	ORPHA:101097
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent my...	ORPHA:169090
Gm1 Gangliosidosis	Recurrent respiratory infections, Camptodactyly of finger, Joint stiffness, Splenomegaly, Patent ...	ORPHA:354
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk...	ORPHA:98850
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Hep...	OMIM:619381
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Crackles, Mediastinal lymphadenopathy, Dyspnea, Usual interstitial...	OMIM:614742
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Autoimmunity, Portal hypertension, ...	OMIM:613385
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Inflammatory abnormality of the skin, Proteinuria, Acne, Osteomyeli...	ORPHA:77297
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtratio...	ORPHA:85450
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan...	OMIM:618204
Peroxisome Biogenesis Disorder 8B	Elevated circulating phytanic acid concentration, Optic atrophy, Decreased liver function, Leukod...	OMIM:614877
Whim Syndrome 2	Severe infection, Recurrent gingivitis, Chronic neutropenia	OMIM:619407
Mevalonic Aciduria	Normocytic hypoplastic anemia, Skin rash, Edema, Fluctuating splenomegaly, Fluctuating hepatomega...	OMIM:610377
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Thrombocytopenia, Hepatosplenomegaly, Str...	ORPHA:505248
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukoc...	OMIM:615688
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Psoriasiform dermatitis, Autoimmune thrombocytopenia, Recurrent pharyng...	ORPHA:293978
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Sepsis, Leukopenia, Increased circulating...	ORPHA:319218
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Leukodystrophy	DECIPHER:59
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Mogs-Cdg	Respiratory distress, Hepatomegaly, Generalized edema, Pulmonary edema, Apnea, Hypoventilation, E...	ORPHA:79330
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Flexion c...	OMIM:607706
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ...	ORPHA:227990
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Ulcerative colitis, Anemia	OMIM:619398
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Nephritis, Infectious enc...	ORPHA:73263
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de...	OMIM:608340
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination	OMIM:608236
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination	OMIM:607791
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis	ORPHA:157991
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Portal fibro...	ORPHA:369
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Herpes simplex encephalitis, Recurrent aphthous stomatitis	OMIM:614850
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Ascites	ORPHA:834
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Acute hepatic failure, Hepatomegaly, Elev...	OMIM:256810
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu...	OMIM:612301
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Intestinal lymphedema, Autoimmunity, Edema, Lymphedema, Chylous...	ORPHA:90363
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Edema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morpho...	ORPHA:2584
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Pruritus, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lym...	ORPHA:79456
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Hypertrophic nerve changes, Onion bulb formation, Segmental peripheral demyelination/remyelination	OMIM:601098
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respiratory infections, Anisocytosis, ...	OMIM:618278
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Foot osteomyelitis, Axonal degeneration/r...	OMIM:600882
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe...	OMIM:601596
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Recurrent infections, Neutropenia	OMIM:617014
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Sinusitis, Recurrent bronchitis, Bronchiectasis, Ac...	OMIM:208900
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract...	ORPHA:79301
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kid...	ORPHA:54251
Sandhoff Disease	Splenomegaly, Hepatomegaly, Cherry red spot of the macula	ORPHA:796
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, R...	OMIM:617475
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria	OMIM:615605
Hemophagocytic Syndrome Associated With An Infection	Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Severe cytomegalovirus infection, C...	ORPHA:158048
Cyclic Neutropenia	Premature loss of permanent teeth, Sinusitis, Recurrent skin infections, Cyclic neutropenia, Peri...	ORPHA:2686
Lambert Syndrome	Hypospadias, Jaundice, Cholestasis, Decreased circulating antibody level, Intrahepatic biliary at...	ORPHA:1296
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Flexion contracture, Optic atrophy, Perip...	OMIM:609260
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration	OMIM:607677
Rasmussen Subacute Encephalitis	Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo...	ORPHA:1929
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration	OMIM:607731
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Er...	OMIM:214900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Ambiguous genitalia, Recurrent urinary tract infections, Abnormal hemoglobin...	ORPHA:847
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate...	OMIM:214950
Acute Disseminated Encephalomyelitis	Viral hepatitis, Disseminated viral infection, Severe parainfluenza infection, Herpes simplex enc...	ORPHA:83597
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Decreased circulating antibody level, Erythroderma, Lymphopenia, Hepatic cysts	OMIM:617425
Null Syndrome	Optic atrophy, Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination	ORPHA:280234
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ...	ORPHA:227982
Crimean-Congo Hemorrhagic Fever	Increased circulating IgG level, Leukopenia, Conjunctivitis, Cholecystitis, Morbilliform rash, He...	ORPHA:99827
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology	OMIM:605253
Leigh Syndrome	CNS demyelination, Optic atrophy, Hepatocellular necrosis	OMIM:256000
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi...	OMIM:162000
Drug-Induced Lupus Erythematosus	Pericarditis, Antinuclear antibody positivity, Thrombocytopenia, Pericardial effusion, Autoimmune...	ORPHA:231111
Juvenile Arthritis	Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel...	OMIM:609311
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Myelodysplasia	ORPHA:721
Chronic Mucocutaneous Candidiasis	Dyspareunia, Recurrent urinary tract infections, Recurrent respiratory infections, Skin rash, Che...	ORPHA:1334
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Edema, Pulmonary embolism, Recurrent lower respiratory tract infections, Decreased ...	OMIM:226300
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormal oral mucosa morphology, Abnormality of the kidney, Malabsorpt...	ORPHA:85445
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary renal cell carci...	ORPHA:319487
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy	OMIM:608673
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo...	ORPHA:101096
Eosinophilia, Familial	Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia	OMIM:131400
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute demyelinating polyneuropathy, Onion bulb formation	ORPHA:98916
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Mixed Connective Tissue Disease	Myositis, Xerostomia, Leukopenia, Hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Ly...	ORPHA:809
Chronic Inflammatory Demyelinating Polyneuropathy	Peripheral demyelination, Segmental peripheral demyelination/remyelination	ORPHA:2932
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma, Actinic keratosis	ORPHA:330064
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig...	ORPHA:508533
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Onion bulb formation, Peripheral demyelination	OMIM:618279
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, ...	ORPHA:228426
Xq28 (MECP2) duplication	Functional abnormality of the bladder, Decreased circulating IgA level	DECIPHER:45
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, He...	OMIM:231530
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology	ORPHA:33111
Ataxia-Telangiectasia	Recurrent respiratory infections, Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circul...	ORPHA:100
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo...	ORPHA:79493
New-Onset Refractory Status Epilepticus	Infectious encephalitis	ORPHA:363558
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Lymphocytosi...	ORPHA:514
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti...	OMIM:306400
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki...	ORPHA:26791
Coloboma Of Macula	Macular coloboma	OMIM:120300
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media	OMIM:300455
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Peripheral demyelination, Axonal degeneration/regeneration	OMIM:607736
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration	OMIM:602271
Posterior Column Ataxia With Retinitis Pigmentosa	Recurrent urinary tract infections, Optic atrophy, Joint contracture of the hand, Camptodactyly, ...	OMIM:609033
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:604563
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Palpebral edema...	ORPHA:221139
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno...	ORPHA:858
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva...	OMIM:613070
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Galactosemia I	Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Pityriasis Rubra Pilaris	Eczema, Pruritus, Pustule, Neoplasm, Erythroderma	ORPHA:2897
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density	ORPHA:172
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy...	OMIM:618886
Immunodeficiency 27B	Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio...	OMIM:615978
Tick-Borne Encephalitis	Leukocytosis, Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Myeli...	ORPHA:297
Coenzyme Q10 Deficiency, Primary, 8	Flexion contracture, Elevated circulating creatinine concentration, Peripheral demyelination	OMIM:616733
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren...	OMIM:256300
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Peripheral demyelination	OMIM:616684
Japanese Encephalitis	Respiratory distress, Irregular respiration, Neutrophilia, Increased circulating IgM level, Incre...	ORPHA:79139
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:225
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Bone marrow hy...	ORPHA:391
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr...	ORPHA:158029
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Autoimmunity, Facial edema, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c...	OMIM:615158
Hartnup Disease	Skin rash, Infectious encephalitis	ORPHA:2116
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Skin rash, Abscess, Bronchi...	ORPHA:125
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar...	ORPHA:79126
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia	OMIM:615010
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Pemphigus Foliaceus	Psoriasiform dermatitis, Autoimmunity, Hematological neoplasm, Pruritus, Pustule, Crusting erythe...	ORPHA:79481
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Charcot-Marie-Tooth Disease, Type 4J	Ankle flexion contracture, Axonal loss, Distal arthrogryposis, Peripheral hypomyelination, Onion ...	OMIM:611228
Trichothiodystrophy 1, Photosensitive	Squamous cell carcinoma, Keratoconjunctivitis sicca, Basal cell carcinoma, Erythroderma, Decrease...	OMIM:601675
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Hypochromic microcytic anemia, ...	ORPHA:440713
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for...	OMIM:605588
Charcot-Marie-Tooth Disease Type 4G	Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy	ORPHA:99953
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu...	OMIM:618849
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar op...	ORPHA:90340
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Metachromatic Leukodystrophy Due To Saposin B Deficiency	CNS demyelination, Peripheral demyelination	OMIM:249900
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Eczema, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphaden...	OMIM:615895
Neuropathy, Hereditary, With Liability To Pressure Palsies	Segmental peripheral demyelination/remyelination	OMIM:162500
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal...	ORPHA:167
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ...	OMIM:605285
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Gingival overgrowth, Nephrotic ...	OMIM:269920
Galloway-Mowat Syndrome 6	Proteinuria, Decreased response to growth hormone stimulation test, Downturned corners of mouth, ...	OMIM:618347
Myh9-Related Disease	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Increased mean platelet volume, ...	ORPHA:182050
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Immunodeficiency 54	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency, Lymphade...	OMIM:609981
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure, Pyloric stenosis	ORPHA:664
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Thrombocytopenia, Optic atrophy, Sepsis, Hyperammonemia, Neutropenia, Pancreatitis,...	ORPHA:289916
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	ORPHA:347
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Oxoglutaric Aciduria	Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration	ORPHA:31
Metachromatic Leukodystrophy	Reduced leukocyte arylsulfatase A activity, Optic atrophy, Gallbladder dysfunction, Cholecystitis...	OMIM:250100
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Pulmonary fibr...	OMIM:618165
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Th...	OMIM:617053
Joubert Syndrome 33	Cone/cone-rod dystrophy, Splenomegaly	OMIM:617767
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation	OMIM:618184
Roifman Syndrome	Hepatomegaly, Thin upper lip vermilion, Eosinophilia, Eczema, Splenomegaly, Recurrent pneumonia, ...	OMIM:616651
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Fulminant hepatitis, Jaundice, Hepatic failure, Hash...	OMIM:618549
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral...	ORPHA:811
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Skin rash, Antinuclear ...	ORPHA:50918
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Splenomegaly, Gingivitis, Premature loss of teeth, Anemia	OMIM:618107
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul...	OMIM:232220
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Flexion contracture, Peripheral hypomyelination, Distal arthrogryposis	OMIM:616287
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers, Mildly elevated creatine kinase	OMIM:615376
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnor...	ORPHA:420741
Adult-Onset Nemaline Myopathy	Paraproteinemia, Mildly elevated creatine kinase	ORPHA:171442
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ...	OMIM:612925
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Peripheral demyelination	ORPHA:99944
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Neurocutaneous Melanocytosis	Infectious encephalitis	ORPHA:2481
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Gastric va...	OMIM:613490
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Lcat Deficiency	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ...	ORPHA:650
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Spinocerebellar Ataxia Type 43	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy	ORPHA:497764
Atelis Syndrome 1	Decreased lymphocyte proliferation in response to anti-CD3, Eczema, Bronchiectasis, Anemia, Leuko...	OMIM:620184
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis	OMIM:238970
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Optic disc pallor, Facial palsy, Splenomegaly, Thrombocytopenia, O...	OMIM:611490
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612924
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Leukocytosis, Cheil...	ORPHA:247353
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Autoimmune antibody positivity, Reticulocytopenia, Bon...	ORPHA:88
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation	OMIM:615035
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Sterile pyuria, Renal i...	ORPHA:91500
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Chronic lung disease, Severe B lymphocytopenia, Acute respiratory ...	OMIM:620005
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Systemic Sclerosis	Intestinal bleeding, Abnormal small intestine morphology, Barrett esophagus, Abnormality of the k...	ORPHA:90291
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Jaundice, Nephroc...	OMIM:613404
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Hypospadias, Decreased circulating antibody level	OMIM:616910
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Abnormality of the urinary system, Hepatomegaly	ORPHA:2204
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho...	ORPHA:59303
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Onion bulb formation	OMIM:610100
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal a...	OMIM:612541
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Pathologic fracture, Axonal loss, Peripheral demyelination	OMIM:221770
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, De...	ORPHA:90045
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Icf Syndrome	Recurrent respiratory infections, Abnormality of neutrophils, Decreased circulating antibody leve...	ORPHA:2268
Alveolar Echinococcosis	Liver abscess, Pulmonary cyst, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pan...	ORPHA:284
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Antinuclear antibody positivity, Cervical lymphadenopathy, Recurrent pneumonia, Decrea...	OMIM:617718
Yellow Fever	Increased circulating interleukin 6 concentration, Anuria, Skin rash, Acute pancreatitis, Renal i...	ORPHA:99829
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise...	OMIM:617575
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Thrombotic Thrombocytopenic Purpura	Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria	ORPHA:54057
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Segmental peripheral demyelination/remyelination, Axonal loss, Abnormality o...	OMIM:601455
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the s...	OMIM:620040
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis	ORPHA:863
Complement Component 5 Deficiency	Decreased circulating complement C5 concentration, Reduced hemolytic complement activity, General...	OMIM:609536
Lymphoid Interstitial Pneumonia	Lymphocytic interstitial pneumonia	OMIM:247610
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612926
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Abnormal peripheral myelination, Testicul...	ORPHA:168563
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Poems Syndrome	Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Lymphadenopathy, R...	ORPHA:2905
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Axonal loss, Peripheral demyelination	OMIM:617672
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Chroni...	ORPHA:90033
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Trichohepatoenteric Syndrome 2	Hepatomegaly, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis	OMIM:614602
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splen...	OMIM:612714
Cednik Syndrome	Nephrotic syndrome, Proteinuria, Abnormality of the dentition	ORPHA:66631
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia	ORPHA:517
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Spo...	OMIM:214500
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic failure	ORPHA:75234
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Chilblains, Port...	OMIM:619487
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Increased circulating thyroglobulin level, Sagittal craniosynostosis, P...	OMIM:610199
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Intestinal obstruction, Lymphadenopathy, Inflammation of the larg...	ORPHA:26790
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Pericardial effusion, Splenomegaly,...	ORPHA:77261
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit...	ORPHA:117
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ...	OMIM:602347
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Neutropenia	ORPHA:90023
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Hemolytic anemia, Skin rash, Chilblains, Pneumonia, Pancytopeni...	OMIM:615846
Rhabdoid Tumor	Renal neoplasm, Lymphadenopathy, Anemia, Neoplasm of the liver, Hematuria, Thrombocytopenia	ORPHA:69077
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers	ORPHA:2386
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa...	ORPHA:209902
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Thin vermilion border, Hepatomegaly	OMIM:608540
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Unusual skin infection, Sinusitis, Stiff neck, Pneumonia, Facial palsy, Pust...	ORPHA:68
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Emphysema, Dyspnea, Br...	OMIM:612387
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Recurrent otitis media, Lymphop...	OMIM:605309
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Macrosc...	ORPHA:251004
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury	OMIM:268200
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Hypoalbuminemia	OMIM:227090
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Abnormal lymphocyte proliferation, Recurrent viral infections, Elevated circu...	OMIM:619573
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Autoimmunity, Pneumonia, Autoimmune thrombocytopenia, Antinucle...	OMIM:607944
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Cryptorchidism, Nephrotic syndrome, Nephropathy, Anemia	ORPHA:1192
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo...	OMIM:203800
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb...	OMIM:277900
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Premature ovarian insufficienc...	OMIM:240300
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Pustule, Orchitis, Optic atrophy, Arthritis, Infectious encephalitis	ORPHA:761
Hereditary Orotic Aciduria	Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia	ORPHA:30
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Abetalipoproteinemia	CNS demyelination, Abetalipoproteinemia, Peripheral demyelination, Acanthocytosis	OMIM:200100
Gaucher Disease Type 2	Splenomegaly, Flexion contracture, Hepatomegaly	ORPHA:77260
Scedosporiosis	Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, ...	ORPHA:449280
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis, ...	OMIM:269200
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n...	OMIM:608203
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Niemann-Pick Disease, Type A	Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Spleno...	OMIM:257200
Charcot-Marie-Tooth Disease, Type 4B1	Myelin outfoldings, Irregular myelin loops, Facial palsy	OMIM:601382
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis, Furrowed tongue, Oligosacchariduria, Macroglossi...	ORPHA:2483
Alg12-Cdg	Recurrent respiratory infections, Partial absence of specific antibody response to Haemophilus in...	ORPHA:79324
Spondyloenchondrodysplasia	Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Decreased resp...	ORPHA:1855
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Premature ovarian insufficiency, Eosinophilia...	ORPHA:199299
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Leukopenia, Hepatic ...	ORPHA:108
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc...	OMIM:604416
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Flexion contracture, Onion bulb formation, Facial palsy	OMIM:607684
Poliomyelitis	Meningitis, Stiff neck, Infectious encephalitis, Myelitis	ORPHA:2912
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Osteomalacia, Recurrent fractures, Precocious pube...	ORPHA:562
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Anemia, Nephrotic syndrome, Arthrit...	ORPHA:575
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase concentration, De...	OMIM:271245
Neonatal Lupus Erythematosus	Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Maculopapular exanthema, Skin rash...	ORPHA:398124
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Oligosacchariduria, Macro...	OMIM:616354
Chikungunya	Maculopapular exanthema, Skin rash, Peripheral nerve compression, Erythema nodosum, Joint stiffne...	ORPHA:324625
Bloom Syndrome	Elevated hemoglobin A1c, Lymphoma, Bronchiectasis, Malar rash, Squamous cell carcinoma, Decreased...	OMIM:210900
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Incontinentia Pigmenti	Skin rash, Camptodactyly of finger, Eosinophilia, Keratitis, Osteolysis, Uveitis, Infectious ence...	ORPHA:464
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Autoimmunity, Reduced forced expiratory volume in one second, Respiratory tract infect...	ORPHA:1303
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Intellectual Developmental Disorder, Autosomal Recessive 41	Splenomegaly, Recurrent pneumonia, High palate, Hepatomegaly	OMIM:615637
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Unilateral r...	OMIM:614576
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp...	OMIM:228000
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Macrothrombocytopenia, Aminoaciduria, Short philtrum, Neutropenia, Decreased platele...	OMIM:603585
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Cerebral dysmyelination, Portal hypertension, Dysmyelinating leukodystrophy, Cryptorchidism, Hepa...	OMIM:609136
Nephroblastoma	Hematuria, Neoplasm of the liver, Nephroblastoma, Lymphadenopathy	ORPHA:654
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Splenomegaly, Dehydration, Anemia, Neutropenia, Pancreatitis,...	ORPHA:79312
Malakoplakia	Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Follicular hyperplasia, Or...	ORPHA:556
Castleman Disease	Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, F...	ORPHA:160
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level	ORPHA:99811
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Severe demyelination of the white matter, Megaloblasti...	ORPHA:79282
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ...	ORPHA:379
Encephalitis Lethargica	Urinary incontinence, Increased circulating antibody level, Autoimmunity	ORPHA:83600
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Familial Mediterranean Fever	Acute hepatic failure, Intestinal obstruction, Pericarditis, Proteinuria, Skin rash, Malabsorptio...	ORPHA:342
Cysticercosis	Iridocyclitis, Stiff neck, Increased circulating antibody level, Infectious encephalitis	ORPHA:1560
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H...	OMIM:278000
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Peripheral axonal neuropathy, Hypogonadotropic hypogonadism, Hyper...	ORPHA:298
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Elevated circulating creatine kinase concentration, Peripheral dysm...	ORPHA:101082
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:619151
Charcot-Marie-Tooth Disease Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel...	ORPHA:98856
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Splenic infarcti...	OMIM:603903
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Elevated circulating glutaric acid concentration, Hepatic periportal necr...	OMIM:231680
Scheie Syndrome	Hepatomegaly, Splenomegaly, Wide mouth, Mucopolysacchariduria, Thick vermilion border, Everted lo...	ORPHA:93474
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased number of peripheral myelinated nerve fibers, Hypercholesterolemia, Peripheral axonal n...	OMIM:607250
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	OMIM:220110
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Decreased circulatin...	OMIM:606056
Smith-Kingsmore Syndrome	Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling	ORPHA:584
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Gout, Recurrent infections, Hyperuricemia, Neutrop...	OMIM:617056
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Increased circulating interleukin 6 concentration, Anuria, Protein...	ORPHA:340
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp...	ORPHA:36238
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,...	ORPHA:542643
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Pulmonary Capillary Hemangiomatosis	Hemothorax, Diffuse alveolar hemorrhage, Antinuclear antibody positivity, Cytoplasmic antineutrop...	ORPHA:199241
Hennekam Syndrome	Lymphopenia, Recurrent respiratory infections, Lymphedema, Pericardial effusion, Splenomegaly, Pu...	ORPHA:2136
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Myelodysplasia, Leukocytosis, He...	ORPHA:3260
Eosinophilopenia	Decreased eosinophil count, Autoimmunity, Allergic rhinitis	OMIM:131430
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Dege...	OMIM:604484
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Hemochromatosis, Type 2A	Splenomegaly, Arthritis, Cirrhosis, Hepatomegaly	OMIM:602390
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Abnormality of the tonsils, Abnormal nerve conduction velocity	ORPHA:93476
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Multiple Sulfatase Deficiency	Splenomegaly, CNS demyelination, Peripheral demyelination, Hepatomegaly	OMIM:272200
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Eczema, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia, Leukop...	ORPHA:508542
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, A...	ORPHA:163596
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Facial edema, Dyspnea, ...	ORPHA:293173
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Lichen Planopilaris	Hepatitis	ORPHA:525
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Epidermodysplasia Verruciformis	Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous cell carcinoma, Verrucae	ORPHA:302
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Vesicoureteral re...	ORPHA:261222
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Schimke Immunoosseous Dysplasia	Pancytopenia, Renal insufficiency, Proteinuria, Abnormal immunoglobulin level, Bilateral cryptorc...	OMIM:242900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, ...	ORPHA:79259
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Jaundice, Leukocytosis, Recurrent pharyngitis, Hepatitis, C...	ORPHA:2331
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Recurrent aphthous stomatitis, St...	OMIM:212750
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Esophageal varix, Steatorrhe...	ORPHA:75233
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Thin upper lip vermilion, Organic aciduria, Long philtrum	OMIM:614741
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thrombocytopenia, Leukocy...	ORPHA:520
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec...	OMIM:301074
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Eczema, Elevated circulating creatine kinase concentration, Cryptorchidism, Re...	ORPHA:314389
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Eso...	ORPHA:264580
Alpha-Mannosidosis	Hepatomegaly, Open bite, Splenomegaly, Dental malocclusion, Gingival overgrowth, Narrow palate, M...	ORPHA:61
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Recurrent pneumonia, Decreased circulating total IgM, Hypocalcemia, Micropenis, Decr...	OMIM:607143
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hemangioma, Hypospadias, Decreased circulating IgA level	ORPHA:457485
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Adult Krabbe Disease	CNS demyelination, Peripheral demyelination, Erectile dysfunction, Abnormal circulating enzyme co...	ORPHA:206448
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Ascites	ORPHA:890
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul...	OMIM:146255
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color	ORPHA:90037
Alexander Disease	Osteopenia, Precocious puberty, Infectious encephalitis, Facial palsy	ORPHA:58
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Recurrent bronchitis, Recurrent pne...	OMIM:251260
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Hypoalbuminemia	ORPHA:1954
Transaldolase Deficiency	Edema, Hydrops fetalis, Abnormal respiratory system physiology, Hepatosplenomegaly, Anemia, Cirrh...	ORPHA:101028
Ichthyosis, Hystrix-Like, With Deafness	Squamous cell carcinoma, Punctate keratitis, Erythroderma	OMIM:602540
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Renal cyst, Nephrotic syn...	OMIM:212065
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Porta...	ORPHA:131
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Neutropenia, Stomatitis, A...	OMIM:246400
Sialidosis Type 2	Splenomegaly, Nephropathy, Ascites, Hepatomegaly	ORPHA:87876
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Dyspnea, Bronchie...	OMIM:620233
Muir-Torre Syndrome	Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma ...	ORPHA:587
Vici Syndrome	Renal tubular acidosis, Decreased circulating IgG2 level, Decreased circulating IgG level, Ureter...	ORPHA:1493
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Rheumatoid arthritis, Hashimoto thy...	ORPHA:589
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Skin rash, Autoimmunity, Pruritus, Abnormality of the pancreas, Pr...	ORPHA:69665
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Thyroid Lymphoma	Hashimoto thyroiditis, Lymphadenopathy	ORPHA:97285
Leptospirosis	Papilledema, Pericarditis, Hepatomegaly, Skin rash, Jaundice, Hepatitis, Uveitis, Hyperproteinemi...	ORPHA:509
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n...	ORPHA:90062
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Recurrent respiratory infections, Abnormality of the pancreas, Agammaglobulinemia, Lymphopenia, A...	ORPHA:935
Spinocerebellar Ataxia Type 25	Decreased number of large peripheral myelinated nerve fibers	ORPHA:101111
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Decreased proport...	OMIM:242840
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Autoimmunity, Splenomegaly, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I...	ORPHA:424019
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Abnormality of neutrophil physiology, Squamous cell carcinoma	ORPHA:542592
Refractory Celiac Disease	Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In...	ORPHA:398063
Poikiloderma With Neutropenia	Joint laxity, Skin rash, Elevated circulating creatine kinase concentration, Joint stiffness, Spl...	OMIM:604173
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Juvenile Temporal Arteritis	Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia	ORPHA:26137
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Orofacial cleft, Cholestasis, Hepatic fibrosi...	OMIM:615630
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Hyperamm...	OMIM:253260
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ...	ORPHA:3243
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Thrombocyt...	OMIM:229050
Sialuria	Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Macroglossia, High palate, Hypoplastic nipp...	OMIM:269921
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Osteomyelitis	OMIM:614116
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Thrombocytopenia, Deep philtrum...	OMIM:606003
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, St...	OMIM:235555
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti...	OMIM:120100
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Alopecia-Intellectual Disability Syndrome 4	Micropenis, Hypospadias, Erythroderma	OMIM:618840
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cleft upper lip, Cleft palate, Hematuria, N...	OMIM:161200
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotran...	OMIM:227810
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ova...	ORPHA:79240
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Malabsorption, Cryptorchidism, Leukocytosis, Acu...	ORPHA:99812
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Proteinuria, Autoimmunity, Abnormality of complement system, Po...	ORPHA:79086
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple...	OMIM:216360
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Autonomic erectile dysfunction, Impotence, Symmetric peripheral demyelination, Leukodystrophy	OMIM:169500
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Lym...	ORPHA:85408
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Breast carcinoma, Sarcoma	OMIM:609265
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp...	OMIM:620133
Glutaric Acidemia I	Hepatomegaly, Delayed myelination, Symmetrical progressive peripheral demyelination, Reduced pero...	OMIM:231670
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Intestinal obstruction, Renal insufficiency, Proteinuria, Autoimmunity, Eosinophi...	ORPHA:183
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Skin rash, Genital ulcers, Colitis, Lymphopenia, Thrombocytop...	OMIM:616744
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Delayed CNS myelination, Hyperammonemia, Tubulointerstitial...	OMIM:251000
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Jaundice, Hyper...	ORPHA:1667
Familial Tumoral Calcinosis	Hepatomegaly, Skin rash, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, ...	ORPHA:53715
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi...	ORPHA:728
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis, Lipemia retinalis	OMIM:207750
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Hyponatremia, Hyperlipidemia, Recurrent upper respiratory tract in...	ORPHA:293987
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid factor positive, Elevated circulating C-reactive...	ORPHA:79099
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Skin ...	OMIM:277380
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Lymphadenopathy	OMIM:254400
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia, ...	ORPHA:83617
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulo...	OMIM:607426
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc...	ORPHA:1302
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Positive direct antiglobulin ...	ORPHA:71275
Intellectual Developmental Disorder, Fra12A Type	Erythroderma	OMIM:136630
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Molybdenum Cofactor Deficiency, Complementation Group A	Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Hypouricemia, Sulfite oxida...	OMIM:252150
Scleromyxedema	Abnormality of the kidney, Elevated circulating creatine kinase concentration, Pruritus, Paraprot...	ORPHA:167635
Ichthyosis Prematurity Syndrome	Pruritus, Allergic rhinitis, Erythroderma	OMIM:608649
Congenital Ichthyosiform Erythroderma	Keratitis, Erythroderma, Pruritus	ORPHA:79394
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Lamellar Ichthyosis	Chronic otitis media, Renal insufficiency, Pruritus, Erythroderma	ORPHA:313
Adams-Oliver Syndrome 6	Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia, Hepatic fibrosis	OMIM:616589
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Hydrops fetalis,...	ORPHA:2414
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Hydrops fetalis...	ORPHA:79329
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, T...	OMIM:274000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Renal hypoplasia, Lacticaciduria, Wide mouth, Aminoaciduria, 3-Methyl...	OMIM:604273
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Erythroderma	ORPHA:312
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Alopecia Antibody Deficiency	Decreased circulating antibody level	ORPHA:1006
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Increased mean corpuscular hemoglobin concentration,...	ORPHA:33364
Pulmonary Alveolar Proteinosis, Acquired	Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Anti-granulocyte-macrop...	OMIM:610910
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O...	OMIM:607626
Linear Iga Dermatosis	Renal neoplasm, Inflammation of the large intestine, Autoimmunity, Oral ulcer	ORPHA:46488
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice...	OMIM:211600
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut...	ORPHA:368
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Anemia, Leukopen...	OMIM:613845
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:306000
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi...	ORPHA:296
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Myelodysplasia, Acute leukemia	ORPHA:3318
Aredyld Syndrome	Hepatomegaly, Abnormal dental enamel morphology, Splenomegaly, Abnormality of the ureter, Narrow ...	ORPHA:1133
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ...	ORPHA:86816
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Rectal...	ORPHA:436252
Goodpasture Syndrome	Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul...	OMIM:233450
Sarcoidosis	Increased T cell count, Uveitis, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hemo...	ORPHA:797
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Sepsis In Premature Infants	Hepatomegaly, Increased circulating interleukin 6 concentration, Abnormal mucociliary clearance, ...	ORPHA:90051
Proteus-Like Syndrome	Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Heman...	ORPHA:2969
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Neoplasm of the lung, Art...	ORPHA:2796
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia	ORPHA:85212
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased number of large peripheral myelinated nerve fibers, Foot osteomyelitis, Osteomyelitis, ...	OMIM:162400
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Wide mouth...	OMIM:243910
Ohdo Syndrome	Proteinuria, Cryptorchidism, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Nar...	OMIM:249620
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Cardiomegaly	OMIM:252920
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Cryptorchidism, Renal hypoplasia, Cleft palate, High palate, Na...	ORPHA:1307
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Hypogeusia, Furrowed tongue, Ham...	ORPHA:2930
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Ascites, Thrombocytopenia	ORPHA:2123
Propionic Acidemia	Hepatomegaly, Pancytopenia, Eczema, Thrombocytopenia, Osteoporosis, Hyperammonemia, Hyperglycinem...	OMIM:606054
Charcot-Marie-Tooth Disease, Type 4B3	Myelin outfoldings, Onion bulb formation	OMIM:615284
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Splenomegaly, Delayed myelination, Vacuolated lymphocytes, Decreased circulating an...	OMIM:248500
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration	OMIM:607831
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne...	ORPHA:411703
Acute Lung Injury	Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu...	ORPHA:178320
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Jaundice, Reduced erythrocyte ...	OMIM:232800
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Cryptorchidism, Delayed myelination, Recurrent bacterial infections, Hyper...	OMIM:241410
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Anemia	ORPHA:28
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Microangiopath...	OMIM:274150
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Stomatitis, Cyclic neutropenia, Proteinuria, Chronic pancreati...	OMIM:232240
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Lymphoma, Systemic ...	ORPHA:90036
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr...	ORPHA:85410
Dubowitz Syndrome	Hypospadias, Eczema, Aplastic anemia, Lymphoma, Acute lymphoblastic leukemia, Otitis media, Hypoc...	OMIM:223370
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Abnormal gastric mucosa morphology, Jaundice, Biliary tract...	ORPHA:234
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Joint laxity, Elevated hepatic transaminase, Bifid scrotum, Osteomyelitis, Hypospadias, Recurrent...	OMIM:619475
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Elevated alkaline phosphatase of bone origin, Osteolysis involving bon...	ORPHA:73
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Recurrent lower respiratory ...	OMIM:615966
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Renal Fanconi syndrome, Pancreatic isle...	ORPHA:263455
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impa...	OMIM:153670
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Protein-losing...	OMIM:602579
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut...	ORPHA:699
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea...	ORPHA:415
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
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Eosinophilic Gastroenteritis	Eosinophilia, Edema, Allergic rhinitis, Leukocytosis, Asthma, Atopic dermatitis, Ascites, Anemia	ORPHA:2070
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Abscess, Skin rash, Pustule, Spl...	OMIM:612852
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl...	OMIM:139090
Peripartum Cardiomyopathy	Orthopnea, Autoimmunity, Crackles, Dyspnea, Asthma, Myocarditis, Pedal edema, Increased circulati...	ORPHA:563
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Cleft l...	OMIM:251290
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Oligoarthri...	OMIM:142680
Gaucher Disease	Osteopenia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent ...	ORPHA:355
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria	ORPHA:98895
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Malabsorption, Renal tubular dysfunction, ...	ORPHA:213
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:276621
Acquired Hypertrichosis Lanuginosa	Glossitis, Macroglossia, Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Red-...	ORPHA:228308
Glutathione Synthetase Deficiency	Hemolytic anemia, Reduced glutathione synthetase level, Neutropenia	OMIM:266130
Primary Ciliary Dyskinesia	Male infertility, Recurrent sinopulmonary infections, Abnormal sperm motility, Female infertility...	ORPHA:244
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Achilles ...	OMIM:302800
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Trigeminal Neuralgia	CNS demyelination, Cranial nerve compression, Peripheral demyelination	ORPHA:221091
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Erosion of oral mucosa, Renal insufficiency, Recurrent skin infections, Anal ...	ORPHA:79408
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k...	OMIM:602668
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul...	ORPHA:33001
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Copper Deficiency, Familial Benign	Decreased circulating copper concentration, Anemia, Seborrheic dermatitis	OMIM:121270
Charcot-Marie-Tooth Disease Type 4A	Limited interphalangeal movement, Limited wrist movement, Decreased number of large peripheral my...	ORPHA:99948
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy	ORPHA:330001
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Microcytic anemia, Macroglossia, 3-Methylglutaconic aciduria, Neutropeni...	OMIM:251900
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
22Q11.2 Deletion Syndrome	Acne, Impaired T cell function, Autoimmunity, Seborrheic dermatitis, Hypospadias, Abnormality of ...	ORPHA:567
Epidermolytic Hyperkeratosis 2	Erythroderma	OMIM:620150
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Galactokinase Deficiency	Complement deficiency, Hepatomegaly, Increased level of galactitol in urine, Hepatosplenomegaly	ORPHA:79237
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Peripheral axonal neuropathy, Axonal degeneration/regeneration, Flexion contracture, Facial diple...	OMIM:218000
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Schwannoma, Hypochromic microcytic anemia, Hepatosp...	ORPHA:96123
Idiopathic Bronchiectasis	Acute infectious pneumonia, Recurrent lower respiratory tract infections, Bronchiectasis, Recurre...	ORPHA:60033
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Antinuclear antibody positivity, Splenomegaly, Jaund...	OMIM:613471
Kaposi Sarcoma	Generalized lymphadenopathy, Skin rash, Lymphedema, Abnormality of the spleen, Abnormal lung morp...	ORPHA:33276
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Palpebral edema, Severe periodontitis, Microcytic anemia, Keratitis, ...	ORPHA:99843
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Proteinuria, Microvesicular hepatic steatosis, Grade ...	OMIM:619377
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid...	OMIM:300653
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thin upper lip vermilion, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lympha...	OMIM:235255
Pediatric-Onset Graves Disease	Episcleritis, Hepatomegaly, Autoimmunity, Keratitis, Splenomegaly, Anti-thyroid peroxidase antibo...	ORPHA:525731
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Osteomyelitis, Autoimmunity, Nodular pattern on pulmonar...	ORPHA:1546
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu...	OMIM:239200
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts, Erythroderma	OMIM:609180
Molybdenum Cofactor Deficiency, Complementation Group B	Axonal loss, Molybdenum cofactor deficiency, Hypouricemia, Peripheral demyelination	OMIM:252160
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, N...	OMIM:232200
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Cryptorchidism, Splenomegaly, Hypercalciuria, Macroglossia, Oligodo...	OMIM:618440
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt...	ORPHA:284426
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E...	ORPHA:2363
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
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Periorbital edema, Splenomegaly, Leukocytosis, Peri...	ORPHA:32960
Cystic Fibrosis	Osteopenia, Elevated hepatic transaminase, Recurrent Aspergillus infections, Sinusitis, Absent va...	ORPHA:586
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Splenomegaly, Abnormality of complement system, Polycystic ovaries,...	ORPHA:2348
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Elevated urinary norepinephrine level	OMIM:171420
Pelger-Huet Anomaly	Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr...	OMIM:169400
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Skin rash, Megaloblastic anemia, Recurrent infections, Hyperhomocystinemia, Re...	ORPHA:79284
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Increased hepatic glycogen content, Enlarged tonsils, Autoimmunity	ORPHA:293964
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pi...	ORPHA:97289
Cowden Syndrome 1	Subcutaneous lipoma, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Decreased circula...	OMIM:158350
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro...	ORPHA:288
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Myoglobinuria, Hepatic failure, Hep...	ORPHA:228305
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Splenomegaly, Hepatomegaly	OMIM:618541
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Seborrheic dermatitis, Renal cyst, Uveitis, Con...	ORPHA:488618
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Supernumerary tooth, Thin vermilion border, Ell...	ORPHA:86818
Shigellosis	Hyponatremia, Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Sepsi...	ORPHA:810
Ichthyosis With Confetti	Pruritus, Erythroderma	OMIM:609165
Peho Syndrome	Undetectable visual evoked potentials, Optic atrophy, Peripheral dysmyelination	OMIM:260565
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt...	ORPHA:1332
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Jaundice...	ORPHA:1333
Propionic Acidemia	Hepatomegaly, Organic aciduria	ORPHA:35
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Splenomegaly, Hepatomegaly	OMIM:252900
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Acne, Impaired T cell function, Unilateral renal agenesis, ...	OMIM:188400
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Intestinal pseudo-obstruction, Heparan sulfate excretion...	OMIM:309900
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Nonprod...	ORPHA:99826
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i...	OMIM:230800
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Hepatomegaly, Elevated hepatic transaminase, Acute myeloid leukemia, Pancyto...	OMIM:260400
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Lymphadenopathy, Neutropenia, Lym...	OMIM:617827
Agel Amyloidosis	Tongue atrophy, Proteinuria, Xerostomia, Stage 5 chronic kidney disease, Keratoconjunctivitis sic...	ORPHA:85448
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp...	ORPHA:567983
Farber Disease	Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmona...	ORPHA:333
Trichothiodystrophy 5, Nonphotosensitive	Micropenis, Chronic decreased circulating IgG1	OMIM:300953
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Hypoalbuminemia, Seborrheic dermatitis	OMIM:614441
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Delayed eruption o...	ORPHA:90321
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome...	OMIM:276700
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calva...	OMIM:244460
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur...	OMIM:277400
Ddost-Cdg	Elevated hepatic transaminase, Hepatic steatosis, Nephrotic range proteinuria	ORPHA:300536
Say-Barber-Miller Syndrome	Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology,...	ORPHA:3132
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula...	OMIM:235200
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Elevated circulating creatine kinase concentration, Decreased num...	OMIM:208920
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Segmental peripheral demyelination/remyelination, Abnormality of Krebs cycle metabo...	ORPHA:255210
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Cryptorchidism...	OMIM:614857
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric acid...	OMIM:246450
Hurler-Scheie Syndrome	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri...	OMIM:607015
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia of liver, ...	ORPHA:247691
Thrombocytopenia 5	Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia...	OMIM:616216
Mucopolysaccharidosis, Type Iiic	Heparan sulfate excretion in urine, Splenomegaly, Everted lower lip vermilion, Hepatomegaly	OMIM:252930
Syndromic Diarrhea	Hepatomegaly, Gastritis, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Abnormal...	ORPHA:84064
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T cell morpholog...	ORPHA:760
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism...	ORPHA:1655
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Lymphedema	OMIM:223350
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Renal tubul...	ORPHA:157
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia	OMIM:614520
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis, Erythroderma	OMIM:604777
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Chromomycosis	Keratitis, Ankylosis, Osteolysis, Recurrent bacterial infections, Keratoconjunctivitis sicca	ORPHA:182
Uremic Pruritus	Inflammatory abnormality of the skin, Recurrent skin infections, Hypercalcemia, Renal hypophospha...	ORPHA:94059
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r...	OMIM:612444
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Impaired T cell function, Hepatomegaly	OMIM:201100
Sjogren Syndrome	Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar...	OMIM:270150
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Patent ductus arteriosus, Osteoporosis, Recurrent infections, Incr...	OMIM:612562
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,...	OMIM:137920
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Colitis, Acute kidney i...	ORPHA:90068
Relapsing Fever	Neutrophilia, Epistaxis, Leukocytosis, Jaundice, Anemia, Leukopenia, Cough, Thrombocytopenia	ORPHA:91547
Cornelia De Lange Syndrome 1	Ectopic kidney, High, narrow palate, Renal cyst, Downturned corners of mouth, Widely spaced teeth...	OMIM:122470
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Kaposiform Lymphangiomatosis	Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system,...	ORPHA:464329
Cirrhosis, Familial	Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, Increased level of prop...	OMIM:215600
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Autoimmunity, Eczema, Mediastinal lymphadenopathy, Autoimmune antibody p...	ORPHA:79128
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege...	OMIM:615490
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat...	OMIM:607361
Fanconi Anemia, Complementation Group F	Pneumonia, Polyhydramnios, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:603467
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Myogl...	ORPHA:713
Cystinosis, Nephropathic	Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Splenomegaly, Stage ...	OMIM:219800
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Recurrent ot...	ORPHA:2728
Genetic Recurrent Myoglobinuria	Dark urine, Myositis, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuri...	ORPHA:99845
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Decreased circulating total IgM, Annular pancreas, Eczema	OMIM:618162
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma	OMIM:242300
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Abnormal circulating inter...	ORPHA:70578
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr...	OMIM:619418
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Renal insufficiency, Anemia, Leukopenia, Pancreatitis, Thrombocy...	ORPHA:27
Cockayne Syndrome Type 2	Hepatomegaly, Cryptorchidism, Flexion contracture, Uveitis, Conjunctivitis, Male hypogonadism, Pa...	ORPHA:90322
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Stiff neck, Skin rash, Maculopapular exanthema, Elevated circulati...	ORPHA:319213
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis	OMIM:614204
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Elevated circulating aspartate aminotransferase concentration, H...	ORPHA:2088
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:29072
Harlequin Ichthyosis	Erythroderma	ORPHA:457
H Syndrome	Psoriasiform dermatitis, Microcytic anemia, Recurrent pharyngitis, Bronchiectasis, Lymphadenopath...	ORPHA:168569
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Foot joint contracture, Facial palsy, Achilles tendon contracture, Aplasia/Hypoplas...	ORPHA:456312
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Decreased circ...	ORPHA:369837
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Erythroderma	ORPHA:35173
Orofaciodigital Syndrome I	Median cleft lip, Proteinuria, Hamartoma of tongue, Cleft upper lip, Pancreatic cysts, Carious te...	OMIM:311200
Chondrodysplasia Punctata 2, X-Linked Dominant	Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydronephrosis, Erythroderma	OMIM:302960
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Thrombocytop...	OMIM:617052
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi...	OMIM:615512
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis	OMIM:238600
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Chronic otitis media, Multicystic kidney dysplasia, Abnormal denta...	ORPHA:2750
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Sensory axonal neuropathy, Facial palsy, ...	OMIM:256850
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Delayed myelination, Osteoporosis, Hyperhomoc...	ORPHA:2169
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Pruritus, Iridocyclitis, Anti...	ORPHA:85436
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Hypospadias, Increased mean platelet volume, Abnormality of the pa...	OMIM:222470
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Mucopolysaccharidosis Type 6	Sinusitis, Splenomegaly, Thick lower lip vermilion, Macroglossia, Mucopolysacchariduria, Chronic ...	ORPHA:583
Systemic Capillary Leak Syndrome	Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Pedal edema, Cardiorespiratory arrest, Cough...	ORPHA:188
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated hepatic transaminase, Neutropenia, Exocrine pancreatic insufficiency	OMIM:618752
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Fetal ascites, Bone-marrow foam cells, Polyhydramnio...	OMIM:607625
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers	OMIM:604360
Bathing Suit Ichthyosis	Erythroderma	ORPHA:100976
Autosomal Spastic Paraplegia Type 58	Peripheral demyelination	ORPHA:397946
Fabry Disease	Renal insufficiency, Proteinuria, Urinary mulberry cells, Lipiduria, Left ventricular hypertrophy...	OMIM:301500
Cutaneous Mastocytoma	Maculopapular exanthema, Dyspnea, Angioedema, Lymphadenopathy, Peau d'orange	ORPHA:79455
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormality of visual evoked potentials, Recurrent respiratory infections	ORPHA:1389
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Sepsis, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated...	OMIM:619991
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Narrow mouth, Hypochromic microcytic anemia, Mild proteinuria, Long philtrum...	OMIM:619147
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria	OMIM:145600
Infantile Neuroaxonal Dystrophy	Peripheral axonal neuropathy, Flexion contracture, Optic atrophy, Diffuse axonal swelling, Aspira...	ORPHA:35069
Multiple Sulfatase Deficiency	Splenomegaly, Mucopolysacchariduria, Smooth philtrum, Hepatomegaly	ORPHA:585
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Optic atrophy, Bronchiectasis, Hyperammonemia, Aspiration pneumonia, Neutropenia	OMIM:618253
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Dental crowding, Deep philtrum, Gingivitis, Oligosacchariduria, Nephrocalcin...	ORPHA:534
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Delayed CNS myelination, Hypospadias, Hyperammonemia, Recurrent in...	OMIM:615471
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P...	ORPHA:731
Viss Syndrome	Exostosis of the external auditory canal, Chronic gastritis, Eczema, Increased circulating IgE le...	OMIM:619472
Granulomatosis With Polyangiitis	Glomerulopathy, Intestinal obstruction, Ureteral stenosis, Renal insufficiency, Autoimmunity, Pro...	ORPHA:900
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Acute kidney injury	ORPHA:57
Pemphigus Erythematosus	Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, O...	ORPHA:79480
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Yellow Nail Syndrome	Renal neoplasm, Sinusitis, Biliary tract neoplasm, Bronchiectasis, Neoplasm of the lung, Rhinitis...	ORPHA:662
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Peroxisomal Acyl-Coa Oxidase Deficiency	Abnormality of visual evoked potentials, Hepatomegaly, Optic atrophy	ORPHA:2971
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Pancreatic cysts...	OMIM:208500
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, High palate, Renal hypoplasia	OMIM:619053
Benign Schwannoma	Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Abnormal esoph...	ORPHA:252164
Occipital Horn Syndrome	Osteopenia, Recurrent urinary tract infections, Osteomalacia, Jaundice, Osteoporosis, Hepatitis, ...	ORPHA:198
Cockayne Syndrome A	Hip contracture, Hepatomegaly, Abnormal peripheral myelination, Splenomegaly, Cryptorchidism, Lim...	OMIM:216400
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Martin-Probst Syndrome	Pancytopenia, Renal insufficiency, Proteinuria, Cryptorchidism, Thick lower lip vermilion, Dental...	OMIM:300519
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Optic atrophy, Aspiration pneumonia, Abnormality of visual evoked potentials	ORPHA:52368
Developmental Delay, Hypotonia, And Impaired Language	Cryptorchidism, Recurrent pneumonia, Neutropenia	OMIM:620012
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Hyperammonemia, Organic ...	OMIM:210210
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal stenosis, Proteinuria, Esophageal neoplasm, Keratitis, Chronic kidney disease, Stage 5...	ORPHA:1018
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Abnormality of visual evoked potentials, Optic disc pallor, Skin rash	OMIM:617523
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Acute colitis, Anuria, Intestinal perforation, Leukocytosis, Schistocytosis, Per...	ORPHA:90038
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus, Uveitis	OMIM:617044
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Esophageal varix, Hepatosplenom...	ORPHA:367
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Monosomy 18Q	Micropenis, Astrocytoma, Decreased circulating IgA level	ORPHA:1600
Herpes Simplex Virus Encephalitis	Respiratory failure requiring assisted ventilation, Leukocytosis, Neutrophilia, Cerebral edema	ORPHA:1930
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Anemia, Panniculitis, Cystic acne, Acne inversa	OMIM:608068
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti...	OMIM:244400
Ichthyosis, Congenital, Autosomal Recessive 9	Erythroderma	OMIM:615023
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Decreased response to growth hormone stimulation test, Cardiomegaly, ...	OMIM:602782
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated hepatic transaminase, Micronodular cirrhosis, Hematuria, Proteinuria	OMIM:192315
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Neurogenic bladder, Decreased circulating antibod...	OMIM:604928
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,...	OMIM:201450
Lymphatic Malformation 7	Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff...	OMIM:617300
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Laryngotracheomalacia, Decreased circulating IgG level, Neutropenia	OMIM:271510
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess, Generalized e...	ORPHA:544482
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Cockayne Syndrome B	Hepatomegaly, Abnormal peripheral myelination, Splenomegaly, Cryptorchidism, Limitation of joint ...	OMIM:133540
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Acute colitis, Dyspnea, Leukocytosis, Pleural empyema, Cough, Constr...	ORPHA:67
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ...	OMIM:301072
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate...	OMIM:606002
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Elevated circulating alanine aminotransferase concentration, Renal steat...	OMIM:261680
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Tracheoesophageal fistula, Lymphadenopathy	ORPHA:142
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Flexion contracture, Recurrent infections, Leukopenia, Neutropenia, Hepatic ...	OMIM:616271
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Nephroti...	OMIM:617729
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit...	OMIM:617050
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Decreased circulating antibody level, Hypoalbuminem...	OMIM:618183
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Protruding tongue, High, narrow palat...	OMIM:214100
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Hydrocele testis, Radioulnar synostosis, Neutropenia, Congenital thrombocytopen...	OMIM:616738
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep...	OMIM:619685
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Abnormality of the lymphatic system, Multiple lipomas, Nephroblastoma, Enl...	ORPHA:276280
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Abnormality of T cell physiology, Psoriasiform dermatitis, ...	ORPHA:2237
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Spinocerebellar Ataxia 25	Decreased number of peripheral myelinated nerve fibers	OMIM:608703
Necrotizing Enterocolitis	Neonatal sepsis, Hyponatremia, Leukocytosis, Peritonitis, Neutropenia, Thrombocytopenia	ORPHA:391673
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis	OMIM:615947
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Thrombocytopenia, Pulmonary fibrosis, Emphysema, Lymphopenia, Anemia	OMIM:620365
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent respiratory infections, Recurrent fractures, Craniosynostosis, Splenomega...	ORPHA:667
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Flexion contracture of finger, Abnormal peripheral myelination, Atopic dermatitis, Congenital fin...	ORPHA:466768
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut...	OMIM:251110
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Ichthyosis, Congenital, Autosomal Recessive 6	Erythroderma	OMIM:612281
Pheochromocytoma	Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
Infantile Myofibromatosis	Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Hypercalcemia, Abnormali...	ORPHA:2591
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri...	ORPHA:447
Galloway-Mowat Syndrome	Proteinuria, Abnormality of the dentition, Hiatus hernia, Nephrotic syndrome, Nephropathy	ORPHA:2065
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto...	OMIM:259720
Leukodystrophy, Hypomyelinating, 5	Onion bulb formation, Leukodystrophy, CNS hypomyelination	OMIM:610532
Familial Thrombocytosis	Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr...	OMIM:616843
East Syndrome	Peripheral axonal neuropathy, Hypokalemia, Peripheral hypomyelination, Increased circulating reni...	ORPHA:199343
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Malt Lymphoma	Recurrent respiratory infections, Mediastinal lymphadenopathy, Lymphadenopathy, Posterior uveitis...	ORPHA:52417
Metachromatic Leukodystrophy, Late Infantile Form	Abnormality of visual evoked potentials, Optic atrophy, Cholecystitis, Leukodystrophy	ORPHA:309256
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pn...	OMIM:230900
Aplasia Cutis-Myopia Syndrome	Meningitis	ORPHA:1117
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Premature loss of teeth, Ascites...	OMIM:610965
Spastic Ataxia 5, Autosomal Recessive	Onion bulb formation	OMIM:614487
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Elevated hemoglobin A1c, Intra-oral hyp...	OMIM:619127
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials, Delayed myelination	OMIM:609304
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia	OMIM:598500
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Cryptococcal meningitis, Lymphopenia, Persistent human papillomavirus infection	OMIM:618309
Metachromatic Leukodystrophy, Juvenile Form	Abnormality of visual evoked potentials, Optic atrophy, Cholecystitis, Leukodystrophy	ORPHA:309263
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Pelizaeus-Merzbacher Disease	Abnormality of visual evoked potentials, Recurrent respiratory infections, Optic atrophy, Joint s...	ORPHA:702
Dyskeratosis Congenita	Abnormality of neutrophils, Periodontitis, Hepatomegaly, Abnormal testis morphology, Blepharitis,...	ORPHA:1775
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Persistence of primary teeth, Abnormality of the dentition, Thrombocy...	ORPHA:2785
Microscopic Polyangiitis	Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Au...	ORPHA:727
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Red urine, Conjunctivitis,...	OMIM:263700
Renal Nutcracker Syndrome	Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis	ORPHA:71273
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Recurrent respiratory infections, Thrombocy...	ORPHA:537
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration	ORPHA:90103
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Jaundice, Stage 5 chronic ...	OMIM:613095
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Microvesicular hepatic steatosis, Hyperammonemia, CNS demyelination, Increased hepat...	OMIM:220111
Mitochondrial Trifunctional Protein Deficiency 2	Myoglobinuria, Recurrent myoglobinuria	OMIM:620300
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Delayed peripheral myelination	ORPHA:464282
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Thrombocytopenia, Stage 5 chronic kidney disease, Leukopenia, Aminoac...	OMIM:222700
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Hepatic fibrosis, Bone marrow hypocellul...	OMIM:613989
Treacher Collins Syndrome 1	Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N...	OMIM:154500
Congenital Erythropoietic Porphyria	Osteopenia, Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis,...	ORPHA:79277
Alpha-Mannosidosis, Adult Form	Pancytopenia, Pneumonia, Hepatosplenomegaly	ORPHA:309288
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Kasabach-Merritt Syndrome	Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hy...	ORPHA:2330
Holoprosencephaly	Hypoplasia of penis, Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, Proteinu...	ORPHA:2162
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials, CNS hypomyelination	ORPHA:320401
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers, Osteolytic defects of the phalanges of th...	OMIM:201300
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Cavernous hemangioma, Right ventricular hype...	OMIM:616028
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hiatus hernia, Wide mouth, Nephrot...	OMIM:251300
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:66628
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmaloni...	OMIM:251100
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Optic atrophy, Motor axonal neuropathy, Abnormality of visual evoked ...	ORPHA:1215
Cherubism	Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multiple impacted tee...	OMIM:118400
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Elevated urinary catecholamine level, Thyroid C cell hyperplasia, Elevated...	ORPHA:653
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Bone marrow hypocellularity, Infection associated neutropenia, Neu...	ORPHA:445038
Polycythemia Vera	Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Gingival...	ORPHA:729
Cockayne Syndrome	Urinary incontinence, Hepatomegaly, Abnormal dental morphology, Cryptorchidism, Renal hypoplasia,...	ORPHA:191
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Myoglobinuria, Leukopenia	OMIM:255125
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, CNS demyelination, Meningitis, Abnormal proportion ...	ORPHA:217260
Alström Syndrome	Abnormality of dental color, Decreased response to growth hormone stimulation test, Urinary incon...	ORPHA:64
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Elevated urinary prostaglandin E2 level, Acne, Seborrheic dermatitis	OMIM:167100
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Recurrent infections, Hyperechogenic pancreas, Thro...	OMIM:617941
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Moderate albuminuria, Autoimmune antibody posi...	ORPHA:99885
Hepatoerythropoietic Porphyria	Osteopenia, Recurrent bacterial skin infections, Hemolytic anemia, Abnormal circulating enzyme co...	ORPHA:95159
Mosaic Trisomy 9	Hypoplasia of penis, Camptodactyly of finger, Asplenia, Cryptorchidism, Patent ductus arteriosus,...	ORPHA:99776
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthritis, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:259100
Carney Triad	Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, As...	ORPHA:139411
Canavan Disease	Abnormality of visual evoked potentials, Flexion contracture, Optic atrophy	ORPHA:141
Giant Cell Arteritis	Pericarditis, Joint stiffness, Recurrent pharyngitis, Optic atrophy, Arthritis, Hepatic failure, ...	ORPHA:397
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Hepatomegaly, Bilateral fetal pyelectasis, Seborrheic dermatitis, M...	OMIM:300868
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:179494
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Peripheral demyelination	ORPHA:171629
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Developmental And Epileptic Encephalopathy 66	Cryptorchidism, Anemia, Neutropenia	OMIM:618067
Gitelman Syndrome	Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Gout, I...	ORPHA:358
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Hypermyelinat...	OMIM:270550
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Peripheral axonal neurop...	ORPHA:254930
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis	OMIM:104570
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Cystic Fibrosis	Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Recurrent pneumonia, Biliary cirrhosis, Hyp...	OMIM:219700
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Conical tooth, Splenomegaly, Defective production of NFKB1-dependent cytokines, Apl...	OMIM:612132
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Leigh Syndrome	Abnormal circulating enzyme concentration or activity, Multiple joint contractures, Eczema, Optic...	ORPHA:506
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Myoglobinuria, Elevated circulating aspartate aminotransferase con...	OMIM:609015
Late-Infantile/Juvenile Krabbe Disease	Abnormality of visual evoked potentials, Abnormal circulating enzyme concentration or activity, A...	ORPHA:206443
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Abnormality of visual evoked potentials, Elevated circulating creatine kinase concentration	ORPHA:1933
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Renal agenesis, Delayed eruption of primary teeth, Aplasia of the paroti...	OMIM:149730
Barth Syndrome	Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Recurrent infec...	OMIM:302060
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Uveiti...	OMIM:186580
Melas	Hypoparathyroidism, Intestinal pseudo-obstruction, Proteinuria, Focal segmental glomerulosclerosi...	ORPHA:550
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormo...	ORPHA:97287
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Knee flexion contracture, Peripheral hypomyel...	OMIM:618733
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Pruritus, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma	ORPHA:626
White-Sutton Syndrome	Joint laxity, Delayed CNS myelination, Optic nerve hypoplasia, Patent ductus arteriosus, Recurren...	OMIM:616364
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Malabsorption, Thick lower lip vermilion, Hemat...	ORPHA:324
Bohring-Opitz Syndrome	Delayed peripheral myelination, Flexion contracture, Recurrent infections, Hyperechogenic pancrea...	OMIM:605039
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu...	ORPHA:424016
Metachromatic Leukodystrophy, Adult Form	Optic atrophy, Cholecystitis, Leukodystrophy, Neoplasm of the gallbladder, Abnormality of visual ...	ORPHA:309271
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Abnormality of visual evoked potentials, Delayed CNS myelination, Joint contracture	OMIM:614457
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Cartilage-Hair Hypoplasia	Joint laxity, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Cong...	OMIM:250250
Hennekam-Beemer Syndrome	Mastocytosis, Pneumonia, Respiratory insufficiency	ORPHA:2135
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria	OMIM:222448
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Absent in utero...	OMIM:608022
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Lymphadenopathy, Hem...	ORPHA:538
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Intestinal fistula, Extrahepatic cholestasis, Lymphadenopathy, Iro...	ORPHA:100078
Wagro Syndrome	Nephroblastoma, Dental crowding, Decreased testicular size, Proteinuria	OMIM:612469
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Infantile Krabbe Disease	Abnormality of visual evoked potentials, Abnormal circulating enzyme concentration or activity, O...	ORPHA:206436
Zimmermann-Laband Syndrome 1	Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Long penis, Gingival overgrowth, Gingival ...	OMIM:135500
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Proteinuria, Urinary incontinence, Leukocytosis, Aspiration pneumo...	ORPHA:94093
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Decreased number of small peripheral myelinated nerve fibers, Osteomyelitis	OMIM:256800
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre...	ORPHA:252183
Gaisböck Syndrome	Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Nephrocalc...	ORPHA:90041
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy, Axonal degeneration/re...	OMIM:601152
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Hiatus hernia...	ORPHA:2538
Adenohypophysitis	Hyponatremia, Chronic lymphocytic meningitis, Decreased female libido, Normochromic anemia, Impot...	ORPHA:95512
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom...	ORPHA:31150
Micro Syndrome	Hypoplasia of penis, Joint stiffness, Cryptorchidism, Hypoplastic labia minora, Optic atrophy, Cl...	ORPHA:2510
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Recurrent respiratory infections, Eczema, Camptodactyly of finger, Keratitis, Crypt...	ORPHA:2273
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High palate, Renal artery stenos...	OMIM:617913
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Facial palsy, Flexion contracture, Highly elevated creatine kinase, Abnormality of visu...	ORPHA:258
Tropical Endomyocardial Fibrosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Orthopnea, Eosinophilia, Cardiom...	ORPHA:75565
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Argininemia	Hepatomegaly, Micronodular cirrhosis, Cholestasis, Diaminoaciduria, Portal fibrosis, Oroticaciduria	OMIM:207800
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Respiratory failure requiring assisted ventilation, Autoimmune thrombocytopenia, Hy...	ORPHA:77293
Charcot-Marie-Tooth Disease Type 1F	Demyelinating sensory neuropathy, Optic nerve hypoplasia, Demyelinating motor neuropathy, Decreas...	ORPHA:101085
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Patent ductus arteriosus, Joint contracture, Neutropenia, Recurrent lower respiratory...	OMIM:618005
Gaucher Disease, Type Iiic	Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly	OMIM:231005
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Hypospadias, Recurrent e...	ORPHA:163956
Hereditary Sensory And Autonomic Neuropathy Type 5	Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Panhypophysitis	Hyponatremia, Chronic lymphocytic meningitis, Decreased female libido, Normochromic anemia, Impot...	ORPHA:95513
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Macroglossia, Exercise-induced myoglobinuria	OMIM:607155
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabsorpt...	ORPHA:405
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Chronic axonal neuropathy, Hypokalemia, Peripheral hypomyelination, Increased circulating renin l...	OMIM:612780
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Elevated circulating creatinine con...	OMIM:223900
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Enuresis, Eczema, Seborrheic dermatitis	ORPHA:369950
Aymé-Gripp Syndrome	Thin upper lip vermilion, Pericarditis, Proteinuria, Cryptorchidism, Cleft palate, Oligodontia, N...	ORPHA:1272
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv...	OMIM:158310
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Late Infantile Neuronal Ceroid Lipofuscinosis	Abnormality of visual evoked potentials, Abnormal circulating enzyme concentration or activity, A...	ORPHA:168491
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Choreoacanthocytosis	Decreased number of peripheral myelinated nerve fibers, Hepatomegaly, Peripheral axonal neuropath...	ORPHA:2388
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:203700
Ruvalcaba Syndrome	Abnormality of visual evoked potentials, Cryptorchidism, Synostosis of carpal bones	ORPHA:3121
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Vacuolated lymphocytes, Renal a...	ORPHA:565612
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t...	OMIM:614748
Neurodegeneration With Brain Iron Accumulation 2A	Abnormality of visual evoked potentials, Optic atrophy	OMIM:256600
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Jaundice...	OMIM:229600
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Cohen Syndrome	Leukopenia, Optic atrophy, Joint hypermobility, Neutropenia	OMIM:216550
Vitreoretinopathy, Neovascular Inflammatory	Uveitis	OMIM:193235
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Abnormality of visual evoked potentials, Laryngotracheomalacia, Optic atrophy	OMIM:616875
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Micropenis, Pancreatitis	OMIM:619471
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Abnormal p...	ORPHA:95455
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Joint laxity	ORPHA:477817
Autosomal Recessive Spastic Paraplegia Type 55	Arthrogryposis multiplex congenita, Optic atrophy, Onion bulb formation, Optic neuropathy	ORPHA:320375
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Nk-Cell Enteropathy	Increased T cell count, Edema	ORPHA:263665
Mepan Syndrome	Abnormality of visual evoked potentials, Optic atrophy	ORPHA:508093
Williams Syndrome	Hypoplasia of penis, Cardiomegaly, Rectal prolapse, Abnormal tubulointerstitial morphology, Nephr...	ORPHA:904
Plague	Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Lymphadenitis, Splenomegaly, Meningitis, ...	ORPHA:707
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Patent ductus arteriosus, Cryptor...	OMIM:227646
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Iron deficien...	ORPHA:100075
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi...	ORPHA:2357
Proteus Syndrome	Thymus hyperplasia, Macroorchidism, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Re...	ORPHA:744
Pituitary Dermoid And Epidermoid Cysts	Oligozoospermia, Hypogonadism, Oligomenorrhea, Meningitis, Amenorrhea	ORPHA:91351
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Stomatitis, Skin rash, Elevated c...	ORPHA:97280
3-Methylglutaconic Aciduria, Type Viia	Delayed CNS myelination, Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria	ORPHA:206549
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Granulomatosis, Conjunctivitis, Chronic otitis media	OMIM:608710
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Ketonuria	OMIM:616878
Stargardt Disease	Abnormality of visual evoked potentials	ORPHA:827
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Abnormality of the dentition, Carious teeth, Splenomegaly, ...	ORPHA:93
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, P...	OMIM:608594
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Polycythe...	ORPHA:116
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Mechanical ileus, Chronic noninfectious lymphadenopa...	ORPHA:100079
Sheehan Syndrome	Hyponatremia, Dyspareunia, Chronic lymphocytic meningitis, Decreased female libido, Normochromic ...	ORPHA:91355
Antiphospholipid Syndrome, Familial	Keratitis, Scleritis, Iritis, Autoimmune thrombocytopenia	OMIM:107320
Arachnoiditis	Meningitis	ORPHA:137817
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Recurrent skin infections, Eczema, Hypospadias, Unilateral renal ag...	OMIM:308205
Acute Transverse Myelitis	Invasive parasitic infection, Decreased circulating copper concentration, Abscess, Extrapulmonary...	ORPHA:139417
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Acne, Pancreatoblastoma, Neoplasm of the thymus, Small cell lung carci...	ORPHA:99889
Friedreich Ataxia	Abnormality of visual evoked potentials, Optic atrophy, Decreased pyruvate carboxylase activity	OMIM:229300
Diamond-Blackfan Anemia 11	Radioulnar synostosis, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia	OMIM:614900
Cerebrotendinous Xanthomatosis	Osteopenia, Optic disc pallor, Abnormal circulating enzyme concentration or activity, Optic neuro...	ORPHA:909
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Neutropenia, Optic nerve hypoplasia, Fused cervical vertebrae	OMIM:609053
Fanconi Anemia, Complementation Group C	Pancytopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Flexion contractu...	OMIM:227645
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections, Pneumonia	ORPHA:99104
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary tooth, Aplas...	OMIM:617088
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte...	ORPHA:95430
Oculocutaneous Albinism Type 1	Abnormality of visual evoked potentials	ORPHA:352731
Malignant Hyperthermia Of Anesthesia	Myoglobinuria, Acute kidney injury	ORPHA:423
Rothmund-Thomson Syndrome	Osteopenia, Calcinosis, Skin rash, Aplastic anemia, Increased susceptibility to fractures, Reduce...	ORPHA:2909
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials	ORPHA:96
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Abnormality of visual evoked potentials, Laryngotracheomalacia, Optic atrophy	ORPHA:480898
Localized Scleroderma	Fasciitis, Flexion contracture, Uveitis, Arthritis, Esophagitis, Sclerosis of finger phalanx, Has...	ORPHA:90289
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia...	OMIM:227650
Leprosy	Abnormality of the spleen, Abnormality of the seventh cranial nerve, Testicular mass, Uveitis, Ab...	ORPHA:548
Gastrointestinal Stromal Tumor	Skin rash, Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, ...	ORPHA:44890
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Dentinogenesis imperfecta, Delayed eruption of permanent teeth, Periodontitis, Premature loss of ...	OMIM:619269
Cln5 Disease	Abnormality of visual evoked potentials	ORPHA:228360
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormally ossified vertebrae, Abnormality of the pancreas, Neutropenia, Decreased ...	ORPHA:175
Pmm2-Cdg	Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Elevated hepatic transaminas...	ORPHA:79318
Juvenile Xanthogranuloma	Iritis, Blepharitis, Myeloproliferative disorder, Uveitis	ORPHA:158000
Fanconi Anemia, Complementation Group E	Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope...	OMIM:600901
Aspartylglucosaminuria	Joint laxity, Hepatomegaly, Recurrent respiratory infections, Acne, Vacuolated lymphocytes, Neutr...	OMIM:208400
Charcot-Marie-Tooth Disease Type 4C	Decreased number of peripheral myelinated nerve fibers, Facial paralysis, Optic atrophy, Demyelin...	ORPHA:99949
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ...	OMIM:130650
African Trypanosomiasis	Hepatomegaly, Renal insufficiency, Pericarditis, Urinary incontinence, Keratitis, Splenomegaly, J...	ORPHA:3385
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Tented upper lip vermilion, Cryptorchidism, Jaundice, Gingival ove...	OMIM:614231
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia, Cerebral edema	OMIM:608033
Degcags Syndrome	Hepatomegaly, Pancytopenia, Chronic lung disease, Pneumonia, Polyhydramnios, Congenital hypoplast...	OMIM:619488
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections, Pneumonia	ORPHA:99103
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Basal lamina onion bulb formation, Demyelinating peripheral neuropathy	ORPHA:2821
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy	ORPHA:485421
Metachromatic Leukodystrophy	Abnormal circulating enzyme concentration or activity, Abnormal gallbladder morphology, Hemobilia...	ORPHA:512
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy	OMIM:125310
Incontinentia Pigmenti	Maculopapular exanthema, Eosinophilia, Keratitis, Leukocytosis, Optic atrophy, Uveitis	OMIM:308300
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ...	OMIM:309000
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Inflammatory abnormality of the skin, Episodic tachypnea, Pne...	ORPHA:26793
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ...	OMIM:253200
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent skin infections, Pneumonia, Edema, Dyspnea, Pneumothorax, Dehydra...	ORPHA:79404
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral renal agenesis, Bilateral renal dysplasia, Secretory IgA deficienc...	ORPHA:500150
Achalasia-Addisonianism-Alacrima Syndrome	Abnormality of visual evoked potentials, Optic atrophy, Motor axonal neuropathy	OMIM:231550
Hallermann-Streiff Syndrome	Recurrent fractures, Cryptorchidism, Uveitis, Reduced bone mineral density, Abdominal situs inver...	ORPHA:2108
Cohen Syndrome	Cryptorchidism, Joint hyperflexibility, Optic atrophy, Neutropenia	ORPHA:193
Rothmund-Thomson Syndrome Type 1	Osteopenia, Calcinosis, Premature ovarian insufficiency, Aplastic anemia, Cryptorchidism, Finger ...	ORPHA:221008
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Pneumonia, Otitis media, Hepatosplenomegaly	ORPHA:309282
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Intestinal malrotation, Hypoplastic philtrum, Hiatus hernia, Cryptorchidism, Volvulus	OMIM:616682
Diamond-Blackfan Anemia	Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopen...	ORPHA:124
Charcot-Marie-Tooth Disease Type 4B2	Myelin outfoldings, Optic atrophy	ORPHA:99956
Rothmund-Thomson Syndrome Type 2	Osteopenia, Calcinosis, Aplastic anemia, Cryptorchidism, Finger symphalangism, Synostosis involvi...	ORPHA:221016
Khan-Khan-Katsanis Syndrome	Patent ductus arteriosus after premature birth, Neutropenia, Joint contracture, Lymphopenia, Anemia	OMIM:618460
Hermansky-Pudlak Syndrome	Abnormality of visual evoked potentials, Menometrorrhagia, Neutropenia	ORPHA:79430
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Geleophysic Dysplasia 3	Hepatomegaly, Pneumonia, Polyhydramnios, Dyspnea, Respiratory failure	OMIM:617809
Amoebic Keratitis	Scleritis, Anterior uveitis	ORPHA:67043
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Painless fractures due to injury, Recurrent Staphylococcus aur...	ORPHA:642
Velocardiofacial Syndrome	Impaired T cell function	OMIM:192430
Intellectual Developmental Disorder, Autosomal Dominant 54	Eczema, Neutropenia	OMIM:617799
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Delayed peripheral myelination	ORPHA:364577
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Sponastrime Dysplasia	Joint laxity, Hypospadias, Precocious puberty, Generalized joint laxity, Delayed epiphyseal ossif...	ORPHA:93357
Hydranencephaly	Stiff neck, Meningitis, Optic nerve hypoplasia	ORPHA:2177
3-Methylglutaconic Aciduria, Type Viii	Patent ductus arteriosus, Jaundice, Neutropenia	OMIM:617248
Oculocutaneous Albinism Type 1A	Abnormality of visual evoked potentials	ORPHA:79431
Oculodentodigital Dysplasia	Joint contracture of the 5th finger, Uveitis	OMIM:164200
Stickler Syndrome	Recurrent respiratory infections, Osteoarthritis, Uveitis, Reduced bone mineral density, Joint hy...	ORPHA:828
Progeroid Short Stature With Pigmented Nevi	Impaired T cell function	OMIM:176690
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Uveitis	OMIM:221900
Sacral Defect With Anterior Meningocele	Meningitis, Rectal abscess	OMIM:600145
Retinoblastoma	Leukemia, Uveitis	ORPHA:790
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980

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 Fasl

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 Fasl.

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

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
Fasl^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Fasl^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Fasl^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us