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Gene: Fas MGI:95484

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

Fas cell surface death receptor

Synonyms:

Tnfrsf6, CD95, APO-1, TNFR6

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fas mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Fas (4 diseases)
Human diseases predicted to be associated with Fas (2376 diseases)

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

Disease	Matching phenotypes	Source
Autoimmune Lymphoproliferative Syndrome	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:601859
Autoimmune Lymphoproliferative Syndrome	Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea...	ORPHA:3261
Behçet Disease	Mitral regurgitation, Ataxia, Endocarditis, Aortic regurgitation, Cataract, Gastrointestinal hemo...	ORPHA:117
Vogt-Koyanagi-Harada Disease	Cataract, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vit...	ORPHA:3437

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

Disease	Matching phenotypes	Source
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, De...	OMIM:614420
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec...	OMIM:308220
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Autoimmune Lymphoproliferative Syndrome	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:601859
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Autoimmunity, ...	OMIM:617006
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
C1Q Deficiency 1	Decreased circulating complement factor I concentration, Autoimmunity, Membranoproliferative glom...	OMIM:613652
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me...	OMIM:613779
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:603909
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent infections, Herpes simplex encephalitis, Increased circulating IgE level, Recurrent oti...	OMIM:618982
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4...	OMIM:618495
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections	OMIM:242870
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Complement Component 4A Deficiency	Vasculitis, Systemic lupus erythematosus, Decreased circulating complement C4 concentration, Glom...	OMIM:614380
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid...	OMIM:615008
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ...	OMIM:611521
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Mesangial Immune complex d...	OMIM:613496
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent infections, Recurrent respiratory infections, Pancytopenia, Autoimmunity, Splenomegaly,...	OMIM:614470
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
B-Cell Expansion With Nfkb And T-Cell Anergy	Recurrent infections, Decreased specific antibody response to polysaccharide vaccine, Decreased c...	OMIM:616452
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity	OMIM:609529
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Antinuclea...	OMIM:613495
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Autoimmune Lymphoproliferative Syndrome	Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea...	ORPHA:3261
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Autoimmune Hepatitis	Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone...	ORPHA:2137
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec...	ORPHA:169154
Immunodeficiency 27A	Enlarged mesenteric lymph node, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, L...	OMIM:209950
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot...	ORPHA:329918
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Recurrent infections	OMIM:606445
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Periorbital edema, Anti-thyroglobulin antibody positivity...	OMIM:618048
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium...	ORPHA:567544
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Conjunctivitis, Impa...	OMIM:240500
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased...	ORPHA:449395
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Recurrent mycobacterial infections, Invasive fungal infection, C...	ORPHA:98813
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Autoimmunity	OMIM:137100
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Thrombocytopenia	OMIM:314000
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal...	ORPHA:276
Autoinflammation With Arthritis And Dyskeratosis	Polyarticular arthritis, Dry skin, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, ...	OMIM:617388
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Abnormality of humoral immunity, Absen...	ORPHA:277
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Reduc...	OMIM:300400
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat...	OMIM:617514
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo...	OMIM:300853
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Schnitzler Syndrome	Vasculitis, Leukocytosis, Skin rash, Splenomegaly, Anemia, Lymphadenopathy, Arthritis, Hepatomega...	ORPHA:37748
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno...	OMIM:607271
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Autoimmunity, Decreased circulating antibody level, Splenomegaly, Lymphade...	ORPHA:397596
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r...	OMIM:619773
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Recurrent bacterial in...	OMIM:613494
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ...	OMIM:614817
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Psoriasiform lesion, E...	OMIM:614700
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmune hemolytic anemia, Sp...	OMIM:612783
Immunodeficiency 61	Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria...	OMIM:300310
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ...	ORPHA:436159
Complement Component 8 Deficiency, Type I	Systemic lupus erythematosus	OMIM:613790
Simple Cryoglobulinemia	Chronic lymphatic leukemia, Abnormality of the kidney, Nephrotic syndrome, Purpura, Vasculitis, G...	ORPHA:91139
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa...	OMIM:606367
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome...	OMIM:618594
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Sting-Associated Vasculopathy, Infantile-Onset	Erythema, Pustular rash, Lymphopenia, Follicular hyperplasia, Pustule, Antiphospholipid antibody ...	OMIM:615934
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func...	OMIM:607594
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
Reni Syndrome	Focal segmental glomerulosclerosis, Mental deterioration, Steroid-resistant nephrotic syndrome, L...	OMIM:617575
Multiple Myeloma	Nephropathy, Nephrotic syndrome, Acute kidney injury, Elevated circulating creatinine concentrati...	ORPHA:29073
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:209004
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Sple...	OMIM:616005
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Elevated...	ORPHA:1304
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Dry skin, Decreased proportion of CD4-positive helper T cells...	ORPHA:289390
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c...	OMIM:614196
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Pulmonary hemorrhage, Mesangial hypercellularity, Antinuclear antibody positivity, Arthritis, Cre...	OMIM:616414
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Lupus Erythematosus Tumidus	Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Antinuclear antibody positivity...	ORPHA:90283
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Myeloperoxidase Deficiency	Diminished neutrophil myeloperoxidase activity	OMIM:254600
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Immunodeficiency With Hyper-Igm, Type 1	Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, Impaired Ig class switch r...	OMIM:308230
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decr...	OMIM:304790
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Increased circulating IgE le...	OMIM:617241
Omenn Syndrome	Pneumonia, Edema, Dry skin, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomeg...	ORPHA:39041
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Lupus anticoagulant, Antiphospholipid a...	ORPHA:781
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Lymphopenia, Hepatos...	ORPHA:331206
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Increased circulating IgE level, Reduced circ...	ORPHA:449400
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Abnormal ...	ORPHA:1830
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Hyperprolinemia Type 1	Hyperprolinemia, Nephropathy, Prolinuria, Proteinuria	ORPHA:419
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Diarrhea, Increased circulating IgE level, Lymphopenia, Apl...	OMIM:102700
Hypocomplementemic Urticarial Vasculitis	Diarrhea, Sensorineural hearing impairment, Hematuria, Ataxia, Hepatomegaly, Inflammatory abnorma...	ORPHA:36412
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen...	ORPHA:444463
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Phaeohyphomycosis, Abn...	OMIM:212050
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat...	OMIM:618459
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,...	OMIM:152700
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Decreased lymphocyte proliferatio...	OMIM:615122
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial...	OMIM:613500
Boutonneuse Fever	Vasculitis, Diarrhea, Elevated circulating hepatic transaminase concentration, Cervical lymphaden...	ORPHA:83313
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Diarrhea, Eczematoid dermat...	ORPHA:83471
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Prostatitis,...	OMIM:300755
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Diarrhea, Leukocytosis, Panniculitis, Skin rash, Joint swelling, Increased proportion...	OMIM:617099
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis	OMIM:616126
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Autoimmune antibody positivity, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Hep...	OMIM:615285
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Recurrent pharyngitis, Hepatom...	ORPHA:42642
Mantle Cell Lymphoma	B-cell lymphoma, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:52416
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Adult-Onset Still Disease	Erythema, Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymp...	ORPHA:829
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:161950
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:614131
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia...	OMIM:610725
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre...	OMIM:613860
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Anti-Glomerular Basement Membrane Disease	Vasculitis, Autoimmunity, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis,...	ORPHA:375
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Renal insufficiency, Splenomeg...	ORPHA:91138
Nephrotic Syndrome, Type 9	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:615573
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o...	ORPHA:911
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Antineutrophil antibody positivity,...	OMIM:301078
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
Systemic-Onset Juvenile Idiopathic Arthritis	Autoimmunity, Pleural effusion, Skin rash, Splenomegaly, Joint swelling, Hepatomegaly, Elevated c...	ORPHA:85414
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Proteinuria, Hematuria, Membranoproliferative glomerulo...	OMIM:608709
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr...	OMIM:301082
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency	OMIM:249660
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto...	ORPHA:540
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Kimura Disease	Increased circulating IgE level, Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Confusion, Abnormal nasoph...	ORPHA:3392
Postinfectious Vasculitis	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Palpable purpura, Increase...	ORPHA:48435
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Intraalveolar phospholipid accumulation, Eczemat...	OMIM:620565
Mixed Connective Tissue Disease	Nephropathy, Xerostomia, Hepatomegaly, Purpura, Gastrointestinal hemorrhage, Gastroesophageal ref...	ORPHA:809
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Increased circulating IgA level, Tubulointerstitial nephritis, Increased circulating ...	ORPHA:79078
Auditory Neuropathy, Autosomal Dominant 1	Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ...	OMIM:609129
Cernunnos-Xlf Deficiency	Lymphopenia, Decreased circulating antibody level, Autoimmunity, Thrombocytopenia, B lymphocytope...	ORPHA:169079
Immunodeficiency 20	Reduced natural killer cell count, BCGitis, Recurrent otitis media, Reduced natural killer cell a...	OMIM:615707
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti...	OMIM:608184
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Elevated haptoglobin lev...	OMIM:620632
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,...	OMIM:616098
Nail-Patella-Like Renal Disease	Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy	ORPHA:2613
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Sple...	OMIM:608971
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Septic arthritis, Recurrent enteroviral infections, Conjunctivi...	OMIM:307200
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Idiopathic Pulmonary Hemosiderosis	Antineutrophil antibody positivity, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly...	ORPHA:99931
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Decreased circulating antibody l...	OMIM:613011
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Cut...	OMIM:613953
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-pos...	ORPHA:572
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Adenocarcinoma Of The Esophagus	Barrett esophagus, Obesity, Esophageal carcinoma, Lymphadenopathy	ORPHA:99976
Mucopolysaccharidosis-Plus Syndrome	Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic steat...	OMIM:617303
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent viral infections, Increased circulating IgE level, Recurrent otitis media, Molluscum co...	OMIM:243700
Immune Thrombocytopenia	Platelet antibody positive	OMIM:188030
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Immunodeficiency 23	Allergic rhinitis, Conductive hearing impairment, Somatic sensory dysfunction, Eczematoid dermati...	OMIM:615816
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Primary Sclerosing Cholangitis	Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Polyclonal elevati...	ORPHA:171
Insulin Autoimmune Syndrome	Autoimmunity, Systemic lupus erythematosus, Autoimmune antibody positivity, Increased circulating...	ORPHA:411593
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade...	ORPHA:100024
Igg4-Related Submandibular Gland Disease	Xerostomia, Increased circulating IgE level, Increased circulating antibody level, Prostatitis, A...	ORPHA:449432
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Drug-Induced Lupus Erythematosus	Malar rash, Elevated circulating creatine kinase concentration, Hematuria, Lupus anticoagulant, A...	ORPHA:231111
Acquired Ichthyosis	Erythema, Palmoplantar keratoderma, Dry skin, Autoimmunity, Renal insufficiency, Recurrent skin i...	ORPHA:454
American Trypanosomiasis	Splenomegaly, Skin rash, Infectious encephalitis, Lymphadenopathy, Myocarditis, Hepatomegaly, Aut...	ORPHA:3386
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Nephrotic syndrome, Increased circulating lactate dehydrogenase concentratio...	OMIM:619644
Igg4-Related Thyroid Disease	Graves disease, Anti-thyroglobulin antibody positivity, Euthyroid goiter, Goiter, Increased circu...	ORPHA:64744
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig...	OMIM:616730
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Digital ulcer, Narrow mouth, Telangiectasia, Glomeru...	ORPHA:90291
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Diarrhea, Inflammatory abnormality of the skin, Medial calcification of large arteries, Lymphopen...	ORPHA:391487
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection...	OMIM:602450
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Acquired Partial Lipodystrophy	Hearing impairment, Autoimmunity, Hepatic steatosis, Myopathy, Proteinuria, Glomerulopathy, Lymph...	ORPHA:79087
Legionnaires Disease	Bone marrow hypocellularity, Sepsis, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, I...	ORPHA:549
Muckle-Wells Syndrome	Nephropathy, Optic atrophy, Nephrotic syndrome, Renal amyloidosis, Vasculitis, Progressive sensor...	ORPHA:575
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Inflammation of the large intestine, Decrea...	OMIM:619281
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p...	ORPHA:331235
Leishmaniasis	Hypoalbuminemia, Abnormal oral mucosa morphology, Abnormal bleeding, Skin ulcer, Pancytopenia, Le...	ORPHA:507
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment	OMIM:601071
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased LDL ch...	ORPHA:470
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Hyperinsulinemia, Type II diab...	ORPHA:2298
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni...	OMIM:607944
Al Amyloidosis	Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morpholog...	ORPHA:85443
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased...	OMIM:612692
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Oral ulcer, Lupus anticoag...	OMIM:615688
Autoinflammatory-Pancytopenia Syndrome	Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Chilblains, Intestinal inflammatio...	OMIM:619858
Waldenström Macroglobulinemia	Gingival bleeding, Diarrhea, Hearing impairment, Abnormal retinal vascular morphology, Ataxia, He...	ORPHA:33226
Thymoma	Rheumatoid arthritis, Aplastic anemia, Anti-acetylcholine receptor antibody positivity, Systemic ...	ORPHA:99867
Cystinuria	Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu...	OMIM:220100
Hyper-Igd Syndrome	Neutrophilia, Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Skin rash, Spl...	OMIM:260920
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Erythema, Recurrent aphthous stomatitis, Intes...	ORPHA:343
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia	OMIM:608898
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Reduced natural killer...	OMIM:603553
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media...	OMIM:618986
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig...	OMIM:618394
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches, Intestinal obstruction, Hematuria, Tubulointerstitial nephritis, Dysp...	ORPHA:183
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Hypopigmented skin patches, Osteomyelitis, Autoimmunity, Skin ras...	ORPHA:47
Wiskott-Aldrich Syndrome	Nephropathy, Gingival bleeding, Inflammation of the large intestine, Abnormal eosinophil morpholo...	ORPHA:906
Hematuria, Benign Familial, 2	Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria	OMIM:620320
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level, Inflammatory abnormality of the skin, Antinuclear antibody positiv...	ORPHA:90159
Gaisböck Syndrome	Increased red blood cell count, Elevated plasma cell count, Hypertriglyceridemia, Peripheral arte...	ORPHA:90041
C1Q Deficiency 3	Discoid lupus rash, Antinuclear antibody positivity, Recurrent bacterial meningitis	OMIM:620322
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent infections, Decreased circulating IgG level, Decreased lymphocyte proliferation in resp...	ORPHA:169160
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m...	ORPHA:90280
Pediatric Systemic Lupus Erythematosus	Diarrhea, Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urin...	ORPHA:93552
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Decreased circulating total IgG, Pustular rash, Anoperineal fistula, Recurrent otitis m...	OMIM:619381
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Prostatitis, Abnormality of the anterior pituitary, Abnormality ...	ORPHA:449563
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Hyperuri...	OMIM:162000
Neuromyelitis Optica Spectrum Disorder	Myelitis, Functional abnormality of the bladder, Peripheral demyelination, Optic neuritis, Autoim...	ORPHA:71211
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,...	OMIM:613501
Membranoproliferative Glomerulonephritis, X-Linked	Cardiac shunt, Membranoproliferative glomerulonephritis	OMIM:305800
Iga Pemphigus	Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Autoimmun...	ORPHA:555905
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensit...	OMIM:607624
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ec...	OMIM:618348
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Lymphopeni...	OMIM:616100
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Generalized edema, Diarrhea, Vomiting, Pulmonary embolism, Intestinal lymphangie...	OMIM:226300
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Increased circulating interleukin 6 concentra...	OMIM:618944
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade...	OMIM:618852
Primary Biliary Cholangitis	Increased circulating IgA level, Cirrhosis, Hepatomegaly, Jaundice, Celiac disease, Esophageal va...	ORPHA:186
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidn...	OMIM:603278
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Diarrhea, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymp...	OMIM:601457
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane...	OMIM:104200
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Nephrotic Syndrome, Type 8	Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei...	OMIM:615244
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency 84	Splenomegaly, Perianal abscess, B lymphocytopenia, Recurrent bacterial infections, Persistent EBV...	OMIM:619437
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Lymphopenia, Hypoproteinemia, Ascites, Pleural effusion, Hypocalcemia, Anemi...	ORPHA:90362
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Skin ulcer, Systemic lupus erythematosus, Splenomegal...	OMIM:170100
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum	OMIM:619986
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T ly...	OMIM:619164
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Aspergillosis	Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Invasive...	ORPHA:1163
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ...	ORPHA:275
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Polyarticular arthritis, Progressive joint destru...	ORPHA:85435
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl...	OMIM:620210
Complement Factor I Deficiency	Decreased circulating complement factor B concentration, Vasculitis, Recurrent urinary tract infe...	OMIM:610984
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Recurrent viral infections, Lymphopenia, Lymph node hypoplasia, Recurren...	OMIM:613179
Immunodeficiency 32B	BCGitis, Recurrent respiratory infections, Impaired oxidative burst, Abnormal circulating IgG lev...	OMIM:226990
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari...	OMIM:616515
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Diarrhea, Morbilliform rash, Pancytopenia, Retinal hemorrhage, Hematuria, Eryt...	ORPHA:99827
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Antineutrophil antibody positivity, Type I diabetes mellitus, Hepatitis, Hepatosplenomegaly, Auto...	ORPHA:228426
Microscopic Polyangiitis	Diarrhea, Hematuria, Arrhythmia, Abnormal retinal vascular morphology, Vasculitis, Gastrointestin...	ORPHA:727
Wiskott-Aldrich Syndrome	Nephropathy, Gingival bleeding, Inflammation of the large intestine, Diarrhea, Increased circulat...	OMIM:301000
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymp...	ORPHA:66661
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Symptomatic Form Of Hfe-Related Hemochromatosis	Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Hepatomegaly, Hypogonadotropic hypogonad...	ORPHA:465508
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Abnormal heart mor...	ORPHA:400
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinem...	OMIM:152800
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Cytopl...	ORPHA:93126
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps...	ORPHA:183675
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia	ORPHA:2134
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Carious teeth, Skin ulcer, Increased circulat...	OMIM:620603
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in...	ORPHA:231154
Diffuse Palmoplantar Keratoderma, Bothnian Type	Erythema, Skin ulcer	ORPHA:2337
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus	OMIM:613791
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Eczematoid dermatitis, Increased circulating IgE level, Decreased serum insulin-like growth facto...	OMIM:618985
Scrub Typhus	Renal insufficiency, Splenomegaly, Skin rash, Infectious encephalitis, Lymphadenopathy, Myocardit...	ORPHA:83317
Hepatoportal Sclerosis	Anticardiolipin IgG antibody positivity, Nodular regenerative hyperplasia of liver, Periportal fi...	ORPHA:64743
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Hyperur...	OMIM:613845
Galactosemia I	Aminoaciduria, Cataract, Galactosuria, Diarrhea, Vomiting, Decreased liver function, Elevated cir...	OMIM:230400
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Vexas Syndrome	Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti...	OMIM:301054
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Splenomega...	OMIM:616050
Spondyloenchondrodysplasia	Chronic kidney disease, Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Pancytopeni...	ORPHA:1855
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Skin rash, Splenomegaly, Jaundice, Anemia, Lymphadenopathy, Neutropenia, Thromb...	OMIM:603552
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cholestasis, Interface hepatitis, Anti-liver cytosolic antigen type 1 ...	ORPHA:562639
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Immune Dysregulation, Autoimmunity, And Autoinflammation	Gingival bleeding, Epistaxis, Increased circulating interleukin 8 concentration, Increased circul...	OMIM:620514
Immunodeficiency 59 And Hypoglycemia	Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Decreased ci...	OMIM:233600
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Autoimmunity, ...	ORPHA:169090
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Lymphadenopathy, Hepatomegaly, Breast carci...	ORPHA:86893
Preeclampsia/Eclampsia 1	Proteinuria, Thrombocytopenia	OMIM:189800
Cowden Syndrome 1	Thyroid adenoma, Colonic diverticula, Goiter, Lymphopenia, Furrowed tongue, Narrow mouth, Ovarian...	OMIM:158350
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Type I diabetes mellitus, Gastroesophageal reflux, Hepatitis, Decreased circulating IgA level, Au...	OMIM:613385
Immunodeficiency 17	Abnormal B cell morphology, Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, ...	OMIM:615607
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal cir...	OMIM:620376
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Bardet-Biedl Syndrome 18	Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Decreased proportion of memory B cells, Decreased specific anti-polysaccharide...	ORPHA:70593
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria, Hypertriglyceridemia, ...	OMIM:245900
Papa Syndrome	Type I diabetes mellitus, Skin ulcer, Crohn's disease, Proteinuria, Increased inflammatory respon...	ORPHA:69126
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Increased circulating lactate dehydrogenase co...	OMIM:614034
Leptospirosis	Acute kidney injury, Diarrhea, Uveitis, Hepatitis, Hypotension, Pulmonary hemorrhage, Pleural eff...	ORPHA:509
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Macrophage Activation Syndrome	Hemophagocytosis, Systemic lupus erythematosus, Neutropenia, Hepatomegaly, Elevated circulating C...	ORPHA:158061
Muckle-Wells Syndrome	Renal amyloidosis, Hearing impairment, Progressive sensorineural hearing impairment, Recurrent ap...	OMIM:191900
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Increased circulating interleukin 8 concentration, Recurrent otitis media, Microcytic a...	OMIM:256040
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Incr...	OMIM:615767
Immunodeficiency 92	Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific antibody res...	OMIM:619652
Subacute Inflammatory Demyelinating Polyneuropathy	Peripheral demyelination, Leukocytosis, Severe infection, Axonal loss, Demyelinating motor neurop...	ORPHA:206594
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, EEG with...	OMIM:619428
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation,...	ORPHA:505248
Fibronectin Glomerulopathy	Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom...	ORPHA:84090
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia	OMIM:616941
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Systemic Lupus Erythematosus	Anti-Sm antibody positivity, Hematuria, Decreased circulating complement C4 concentration, Discoi...	ORPHA:536
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Systemic Lupus Erythematosus 17	Hypertensive crisis, Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus...	OMIM:301080
Zika Virus Disease	Myelitis, Skin rash, Maculopapular exanthema, Infectious encephalitis, Abnormal optic disc morpho...	ORPHA:448237
Avian Influenza	Pneumonia, Myelitis, Sepsis, Increased circulating lactate dehydrogenase concentration, Hepatitis...	ORPHA:454836
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Complement Factor H Deficiency	Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel...	OMIM:609814
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma	OMIM:615593
Common Variable Immunodeficiency	Pneumonia, Vasculitis, Lymphopenia, Abnormality of the liver, Otitis media, Splenomegaly, Lymphad...	ORPHA:1572
Cholestasis, Progressive Familial Intrahepatic, 12	Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinuria, Conjugate...	OMIM:620010
Galloway-Mowat Syndrome 10	Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ...	OMIM:619609
Nephrotic Syndrome, Type 24	Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic...	OMIM:619263
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Membranous nephropathy...	OMIM:618999
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Immunodeficiency 46	Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Anemia, Conjunctivitis, Decreased c...	OMIM:616740
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Recurrent fungal infections, Decreased circulating antibody level...	OMIM:616873
Majeed Syndrome	Inflammatory abnormality of the skin, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Eryth...	OMIM:609628
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Crigler-Najjar Syndrome	Jaundice, Abnormality of the liver, Infectious encephalitis	ORPHA:205
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Skin rash, Splenomegaly, Proteinuria, Hematuria, Nephrotic syndrome	OMIM:105200
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Elevated ...	ORPHA:49041
Nephrotic Syndrome, Type 1	Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo...	OMIM:256300
Isolated Agammaglobulinemia	Pneumonia, Sepsis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Autoimmunity, Otit...	ORPHA:229717
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Farber Lipogranulomatosis	Cherry red spot of the macula, Joint swelling, Splenomegaly, Lipogranulomatosis, Arthritis, Limit...	OMIM:228000
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Hepatomegaly, Splenomegaly	OMIM:619175
Blau Syndrome	Nephropathy, Erythema, Xerostomia, Dry skin, Synovitis, Iridocyclitis, Erythema nodosum, Polyarti...	ORPHA:90340
Immunodeficiency 75 With Lymphoproliferation	Lymphoma, Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memo...	OMIM:619126
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Immunodeficiency 7	Severe varicella zoster infection, Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splen...	OMIM:615387
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Typhoid	Hepatomegaly, Skin rash, Splenomegaly, Infectious encephalitis	ORPHA:99745
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Antiphospholipid antibody positi...	ORPHA:227982
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Spermatogenic Failure, X-Linked, 1	Sertoli cell-only phenotype, Obesity	OMIM:305700
Autosomal Agammaglobulinemia	Bronchiectasis, Diarrhea, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Epicanthus, Ab...	ORPHA:33110
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Enlarged tonsils, Large for gestational age, Truncal obesity, Increased hepatic glycogen content	ORPHA:293964
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Neonatal Alloimmune Neutropenia	Pneumonia, Antineutrophil antibody positivity, Sepsis, Jaundice, Severe infection, Neutropenia in...	ORPHA:464370
Congenital Enterovirus Infection	Hepatic failure, Sepsis, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage mo...	ORPHA:292
Giant Cell Arteritis	Hearing impairment, Abdominal aortic aneurysm, Hematuria, Arrhythmia, Ataxia, Vasculitis, Renal i...	ORPHA:397
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal bleeding, Lymphedema, Lymphopenia, Decreased circulating antibody level, Hypoproteinemia	ORPHA:1116
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Vasculitis, Inflammation of the large intestine, Recurrent pneumo...	OMIM:617718
Pediatric-Onset Graves Disease	Diarrhea, Hepatomegaly, Jaundice, Increased circulating T4 concentration, Graves disease, Goiter,...	ORPHA:525731
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Diarrhea, Vomiting, Eczematoid dermatitis, Decreased circulating IgA le...	OMIM:212750
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ar...	ORPHA:3287
Autoimmune Hypoparathyroidism	Cataract, Calcium nephrolithiasis, Chronic mucocutaneous candidiasis, Confusion, Paresthesia, Aut...	ORPHA:36913
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif...	OMIM:618108
Reticular Dysgenesis	Diarrhea, Aplasia/Hypoplasia of the thymus, Skin ulcer, Leukopenia, Skin rash, Anemia, Abnormalit...	ORPHA:33355
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Chronic hepatitis, Erythrod...	ORPHA:3260
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Bacterial Toxic-Shock Syndrome	Abscess, Glomerulonephritis, Meningitis, Recurrent skin infections, Osteomyelitis, Renal insuffic...	ORPHA:36234
Granulomatosis With Polyangiitis	Intestinal obstruction, Sensorineural hearing impairment, Hematuria, Prostatitis, Arrhythmia, Inf...	ORPHA:900
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu...	OMIM:614377
Extracranial Carotid Artery Aneurysm	Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi...	ORPHA:494424
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Galloway-Mowat Syndrome 9	Focal segmental glomerulosclerosis, Low-set ears, Gastroesophageal reflux, Stage 5 chronic kidney...	OMIM:619603
Coccidioidomycosis	Hearing impairment, Morbilliform rash, Abnormality of the spleen, Abscess, Abnormality of the bla...	ORPHA:228123
Galloway-Mowat Syndrome 8	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P...	OMIM:618349
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Infectious encephalitis, Jaundice, Anemia, Lymphadeno...	OMIM:267700
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Protein-losing enteropathy, Inflammatory abnormality of the s...	ORPHA:398063
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency	OMIM:615987
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Recurrent respiratory infections, Pancytopenia, Spl...	OMIM:300635
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
Inflammatory Pseudotumor Of The Liver	Biliary tract abnormality, Increased hepatitis B virus antibody level, Neoplasm of the liver, Cir...	ORPHA:90003
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor...	ORPHA:169802
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Periodontitis, Carious teeth, Prolonged bleeding f...	ORPHA:79259
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Abno...	ORPHA:2585
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, Chronic noninfectious lymphade...	ORPHA:97290
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Behçet Disease	Mitral regurgitation, Ataxia, Endocarditis, Aortic regurgitation, Cataract, Gastrointestinal hemo...	ORPHA:117
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Diarrhea, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Ta...	ORPHA:340
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Distal lower limb amyotrophy,...	OMIM:614455
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Hepatosplenomegaly, Abnormal hip joint morphology, Abnormalit...	ORPHA:85408
Actinic Prurigo	Pyoderma, Cheilitis, Glomerulonephritis	OMIM:174770
Cednik Syndrome	Optic atrophy, Downslanted palpebral fissures, Congestive heart failure, Abnormality of periphera...	ORPHA:66631
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Cryptorchidism, Ventricular septal defect, Micropenis, Pulmonary lymphangiectasia, Hepatomegaly, ...	OMIM:235255
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Mitral regurgitation, Cubitus valgus,...	OMIM:619750
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Eczemat...	OMIM:615895
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency, Thrombocytopenia	ORPHA:3327
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu...	ORPHA:732
C1Q Deficiency 2	Discoid lupus rash, Rheumatoid factor positive, Recurrent otitis media, Malar rash, Chilblains, A...	OMIM:620321
Galloway-Mowat Syndrome 3	Low-set ears, Downslanted palpebral fissures, Stage 5 chronic kidney disease, Proteinuria, Epican...	OMIM:617729
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:614376
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Nephronophthisis	Renal insufficiency	ORPHA:655
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Orchitis, Knee osteoarthritis, Abnormalit...	ORPHA:2035
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Microangiopathic hemolytic anemia, Elevated circulating creatinine con...	OMIM:274150
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem...	ORPHA:54057
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ...	ORPHA:48377
Kikuchi-Fujimoto Disease	Erythema, Abnormal lymph node morphology, Oral ulcer, Pustule, Neutropenia, Elevated circulating ...	ORPHA:50918
Listeriosis	Arteritis, Abscess, Pustule, Jaundice, Meningitis, Endocarditis, Unusual CNS infection, Acute kid...	ORPHA:533
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections...	ORPHA:319552
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Wilson Disease	Hepatitis, Bruising susceptibility, Splenomegaly, Joint swelling, Hepatic steatosis, Hepatomegaly...	ORPHA:905
Myh9-Related Disease	Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto...	ORPHA:182050
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Mitral ...	ORPHA:730
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Abscess, Splenomegaly, Pustule, Joint swelling, Hepatomegaly, Neutrophi...	OMIM:612852
Sarcoidosis	Abnormal lymph node morphology, Arrhythmia, Erythema nodosum, Tubulointerstitial nephritis, Hepat...	ORPHA:797
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Cholestasis, Dry skin, Pancytopenia, Ventricular septal defe...	OMIM:614576
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hearing impairment, Lar...	OMIM:617731
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Progressive neurologic deterioration, Arterial stenosis, Cerebral artery atheroscler...	ORPHA:1192
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Meckel diverticulum, Bilateral cryptorchidism, Lymphopenia, Increased...	OMIM:616395
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Open bite, Genu valgum, Open mouth, Cryptorchidism, Hematuria, Hypo...	ORPHA:534
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat...	OMIM:618935
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Carcinoid Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic necrosis, Chronic noninfectious ...	ORPHA:100093
Krabbe Disease	Optic atrophy, Peripheral demyelination, CNS demyelination, Reduced galactocerebrosidase activity...	OMIM:245200
Alopecia Areata 1	Autoimmunity	OMIM:104000
Whim Syndrome 1	Recurrent bacterial infections, Decreased circulating IgG level, Recurrent upper respiratory trac...	OMIM:193670
Familial Mediterranean Fever	Nephropathy, Diarrhea, Acute hepatic failure, Intestinal obstruction, Arrhythmia, Nephrotic syndr...	ORPHA:342
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Renal insufficiency, Proteinuria, Glomerulopathy, Anemia, Hypercalcemia	ORPHA:2668
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu...	OMIM:616871
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly dermal neutro...	ORPHA:293173
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Cataract, Low-set ears, Optic atrophy, Joint contracture of t...	OMIM:251300
Immunodeficiency 68	Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia	OMIM:612260
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ...	OMIM:617780
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count, Autoimmunity	OMIM:131430
Farber Disease	Hepatic fibrosis, Cherry red spot of the macula, Ascites, Hepatosplenomegaly, Abnormality of the ...	ORPHA:333
Lassa Fever	Oliguria, Diarrhea, Hearing impairment, Abnormal bleeding, Shock, Jaundice, Conjunctivitis, Incre...	ORPHA:99824
Chédiak-Higashi Syndrome	Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal...	ORPHA:167
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple...	ORPHA:449427
Aicardi-Goutieres Syndrome 7	Diarrhea, Pancytopenia, Chilblains, Hepatic steatosis, Increased circulating antibody level, Hepa...	OMIM:615846
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Leukocyte Adhesion Deficiency, Type Iii	Sepsis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocy...	OMIM:612840
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Pu...	ORPHA:567546
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase ...	ORPHA:247691
Rheumatoid Arthritis	Vasculitis, Rheumatoid arthritis, Anti-citrullinated protein antibody positivity, Rheumatoid fact...	OMIM:180300
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Chronic noninfectious lymph...	ORPHA:319487
Erythema Elevatum Diutinum	Skin rash, Vasculitis in the skin, Increased circulating antibody level	ORPHA:90000
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Xanthinuria, Type I	Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Hyperxanthin...	OMIM:278300
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Urethritis, Abscess, Rhabdomyolysis, Corneal ulce...	ORPHA:810
Hemophilia A	Gastrointestinal hemorrhage, Spontaneous hematomas, Joint swelling, Intracranial hemorrhage, Intr...	ORPHA:98878
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Skin rash, Splenomegaly, In...	OMIM:617591
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula...	OMIM:301081
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Excessive bleeding after a venipunc...	ORPHA:99826
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Park...	OMIM:619705
Trimethylaminuria	Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Antineutrophil antibody positivity, Recurrent viral infections, Aplastic anemia, Leuke...	ORPHA:486
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Lcat Deficiency	Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glomerular filtration rat...	ORPHA:650
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Anti-thyroglobulin antibody positivity, Decreased circulating Ig...	OMIM:615577
Monosomy 22	Long philtrum, Hepatosplenomegaly, Open mouth, Joint swelling, Aplasia of the thymus, Seborrheic ...	ORPHA:96123
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Downturned corners of mouth, Long philtrum, Recurrent...	ORPHA:353298
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Dry skin, Hepatosplenomegaly, Chilblains, Hepatic steatos...	OMIM:619487
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper respiratory tr...	OMIM:614069
Bardet-Biedl Syndrome 16	Renal agenesis, Recurrent otitis media, Stage 5 chronic kidney disease, Renal insufficiency, Rena...	OMIM:615993
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Abnormality of T cel...	OMIM:181000
Peroxisome Biogenesis Disorder 1A (Zellweger)	Low-set ears, Abnormal helix morphology, Hearing impairment, Sensorineural hearing impairment, Ve...	OMIM:214100
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Rheumatoid arthritis,...	ORPHA:227990
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology...	ORPHA:85450
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas...	OMIM:609057
Gaucher Disease	Aortic valve calcification, Gingival bleeding, Cherry red spot of the macula, Decreased HDL chole...	ORPHA:355
Moyamoya Disease 1	Telangiectasia, Carotid artery occlusion, Inflammatory arteriopathy	OMIM:252350
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	3-Methylglutaconic aciduria, Infectious encephalitis, Abnormality of the kidney, Hepatomegaly, Hy...	ORPHA:1194
Febrile Infection-Related Epilepsy Syndrome	Autoimmunity, EEG abnormality, Sinusitis	ORPHA:163703
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Abnormal renal tubule...	ORPHA:839
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma...	OMIM:619774
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233710
Secondary Intestinal Lymphangiectasia	Intestinal bleeding, Lymphopenia, Intestinal obstruction, Cirrhosis, Celiac disease, Right ventri...	ORPHA:90363
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal immunoglobulin level, Neutropenia, Nephrotic syndrome, Focal ...	OMIM:242900
Whipple Disease	Uveitis, Splenomegaly, Infectious encephalitis, Myositis, Anemia, Arthritis, Myocarditis, Hepatom...	ORPHA:3452
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Diffuse Alveolar Hemorrhage	Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Pulmonary venous hypertension, He...	ORPHA:90060
Familial Cold Autoinflammatory Syndrome 1	Renal amyloidosis, Hearing impairment, Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis	OMIM:120100
Cockayne Syndrome Type 1	Cataract, Optic atrophy, Diarrhea, Foot joint contracture, Hearing impairment, Elevated circulati...	ORPHA:90321
Immunodeficiency 22	Decreased circulating IgG level, Ascites, Decreased circulating IgA level, Autoimmunity, Decrease...	OMIM:615758
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Severe viral infection, Skin ...	ORPHA:319251
Aicardi-Goutieres Syndrome 1	Vasculitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chilblains, ...	OMIM:225750
Pachydermoperiostosis	Gastrointestinal hemorrhage, Peptic ulcer, Eczematoid dermatitis, Osteomyelitis, Splenomegaly, Jo...	ORPHA:2796
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop...	ORPHA:217390
Nephrosialidosis	Nephropathy, Nephrotic syndrome, Renal insufficiency	OMIM:256150
Galloway-Mowat Syndrome 6	Focal segmental glomerulosclerosis, Hypoalbuminemia, Downturned corners of mouth, Decreased respo...	OMIM:618347
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia, Proteinuria, Nephrotic syndrome	OMIM:614652
Follicular Lymphoma	Lymphoma, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal...	ORPHA:545
Buerger Disease	Vasculitis, Arterial occlusion, Raynaud phenomenon, Intermittent claudication	ORPHA:36258
Neuraminidase Deficiency	Cataract, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Cherry red s...	OMIM:256550
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia	OMIM:620085
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Telangiectasia, Abnormality of the kidney, Increased...	ORPHA:284227
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Abnormality of the dentition, Type I diabetes mellitus, Eczematoid dermatitis, Polyarticular arth...	OMIM:615952
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233690
Congenital Disorder Of Glycosylation, Type Ia	Diarrhea, Hepatic steatosis, Hepatomegaly, Nephrotic syndrome, Villous atrophy, Nonimmune hydrops...	OMIM:212065
Chilblain Lupus 1	Antinuclear antibody positivity, Skin ulcer, Chilblains	OMIM:610448
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in r...	OMIM:600802
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased circulating complement factor B concentration, Acute kidney injury, Anuria, Microangiop...	OMIM:235400
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Goiter, Leukocytosis, Hashimoto thyroiditis, Hyponatremia, Hypothyroidism, T...	ORPHA:83601
Moderate Hemophilia A	Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo...	ORPHA:169805
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Recurrent herpes, Herpes simplex encephalitis	OMIM:610551
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Redundant neck skin, Ascites, Pancreatic lymphangiectasis, Hepatosple...	ORPHA:1655
Granulomatous Slack Skin	Erythema, Acute kidney injury, Nephrocalcinosis, Redundant skin, Cutis laxa	ORPHA:33111
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level	OMIM:300076
Poikiloderma With Neutropenia	Sparse eyebrow, Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, S...	OMIM:604173
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Episodic hemolytic anemia, Increased blood urea nitrogen, Membranoproliferative glom...	ORPHA:251004
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Lymphadenopathy, Arthritis	OMIM:617772
Omenn Syndrome	Pneumonia, Diarrhea, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Erythroderma, ...	OMIM:603554
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:136680
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease...	ORPHA:228302
Immunodeficiency 13	Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop...	OMIM:615518
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Charcot-Marie-Tooth Disease, Type 4B1	Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy	OMIM:601382
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Diarrhea, Decreased circulating IgA level, Protrudi...	OMIM:242860
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Diarrhea, Intestinal obstruction, Vasculitis, Erysipelas, Myositis, Peritonitis, Lymphadenopathy,...	ORPHA:32960
Immunodeficiency 101 (Varicella Zoster Virus-Specific)	Cerebral vasculitis	OMIM:619872
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis	ORPHA:26137
New-Onset Refractory Status Epilepticus	Autoimmunity, Infectious encephalitis	ORPHA:363558
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:139406
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Agel Amyloidosis	Cataract, Xerostomia, Hearing impairment, Cardiomyopathy, Bilateral ptosis, Bruising susceptibili...	ORPHA:85448
Kawasaki Disease	Diarrhea, Arrhythmia, Jaundice, Vasculitis, Sterile pyuria, Arthritis, Cheilitis, Ascending tubul...	ORPHA:2331
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Recurrent otitis media, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Narrow mout...	OMIM:619503
Yellow Fever	Diarrhea, Pancreatic hyperplasia, Hyperbilirubinemia, Excessive bleeding after a venipuncture, Ne...	ORPHA:99829
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Recurrent acute respiratory tract infection, Peripheral demyelination	ORPHA:231445
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Ven...	OMIM:243150
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti...	ORPHA:79124
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Classic Mycosis Fungoides	Erythema, Eczematoid dermatitis, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, Skin rash,...	ORPHA:2584
Interstitial Lung Disease 2	Cirrhosis, Increased circulating antibody level	OMIM:178500
Thyroid Lymphoma	Goiter, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Lymphadenopathy, Dysphagia	ORPHA:97285
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts	OMIM:609886
Adult Acute Respiratory Distress Syndrome	Pneumonia, Vasculitis, Abnormal circulating interleukin concentration, Hypotension, Abnormality o...	ORPHA:70578
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form...	ORPHA:499
Myasthenia Gravis	Rheumatoid arthritis, Glycosuria, Anti-acetylcholine receptor antibody positivity, Systemic lupus...	ORPHA:589
Preeclampsia	Chronic kidney disease, Elevated systolic blood pressure, Abnormality of the hepatic vasculature,...	ORPHA:275555
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Trichohepatoenteric Syndrome 1	Cholestasis, Narrow mouth, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hypospad...	OMIM:222470
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Transketolase Deficiency	Increased level of ribose in urine, Cataract, Hearing impairment, Abnormal heart morphology, Pate...	ORPHA:488618
Sneddon Syndrome	Lymphopenia, Ischemic stroke, Stroke, Antiphospholipid antibody positivity, Cerebral hemorrhage, ...	OMIM:182410
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis, Autoimmunity	ORPHA:98827
Gaucher Disease Type 1	Gingival bleeding, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibod...	ORPHA:77259
Zygomycosis	Abnormal cranial nerve morphology, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis...	ORPHA:73263
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Felty Syndrome	Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, Abnormal lymph...	ORPHA:47612
Congenital Disorder Of Glycosylation, Type Iiw	Low-set ears, Elevated gamma-glutamyltransferase level, Recurrent otitis media, Microcytic anemia...	OMIM:619525
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Immunodeficiency 69	Hemophagocytosis, BCGitis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, BCGosis,...	OMIM:618963
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Recurrent aphthous...	OMIM:612782
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Arthri...	ORPHA:411536
Aapoaiv Amyloidosis	Chronic kidney disease, Sinus bradycardia, Glomerular sclerosis, Left bundle branch block, Abnorm...	ORPHA:439232
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Facial telangiectasia in butterfly midface distribution, Renal insufficie...	OMIM:137940
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Neoplasm, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:172
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Clusters of axonal regeneration, Decreased number of peripheral myelinated nerve fibers, Segmenta...	OMIM:607734
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Gm1 Gangliosidosis	Optic atrophy, Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infectious encephalitis, D...	ORPHA:354
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy, Erythema	ORPHA:158014
Livedoid Vasculopathy	Systemic lupus erythematosus, Pancytopenia, Superficial dermal perivascular inflammatory infiltra...	ORPHA:542643
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Vasculitis, Increased serum zinc, Skin rash	OMIM:601979
Alkaptonuria	Aortic valve stenosis, Aortic valve calcification, Dark urine, Black pigment gallstones, Mitral r...	ORPHA:56
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ...	OMIM:311070
Nephronophthisis-Like Nephropathy 2	Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilatation, Perigl...	OMIM:619468
Chikungunya	Gingival bleeding, Erythema, Diarrhea, Crusting erythematous dermatitis, Synovitis, Erythema nodo...	ORPHA:324625
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Biotinidase Deficiency	Optic atrophy, Diarrhea, Vomiting, Organic aciduria, Skin rash, Splenomegaly, Sensorineural heari...	OMIM:253260
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Catastrophic Antiphospholipid Syndrome	Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lupus anticoagulant, Antiphospho...	ORPHA:464343
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Hepatic failure, Hypertrophic cardiomyopathy, Pancytopenia, R...	OMIM:607426
Tangier Disease	Peripheral demyelination, Facial diplegia, Splenomegaly, Peripheral axonal neuropathy, Hepatomegaly	OMIM:205400
Acute Disseminated Encephalomyelitis	Post-vaccination measles, Myelitis, Herpes simplex encephalitis, Viral hepatitis, Severe parainfl...	ORPHA:83597
Diabetes Mellitus, Ketosis-Prone	Autoimmunity, Beta-cell dysfunction	OMIM:612227
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Decreased circulating ...	OMIM:619752
Sézary Syndrome	Dry skin, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Erythroder...	ORPHA:3162
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Meningitis, Herpes simplex encephalitis	OMIM:617900
Primary Erythromelalgia	Leukemia, Vasculitis	ORPHA:90026
Mccune-Albright Syndrome	Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co...	ORPHA:562
Reynolds Syndrome	Skin rash, Infectious encephalitis, Cirrhosis, Keratoconjunctivitis sicca, Arthritis, Hepatomegal...	ORPHA:779
Alg12-Cdg	Biventricular hypertrophy, Abnormal circulating IgG level, Cryptorchidism, Micropenis, Hypospadia...	ORPHA:79324
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, Increased blood u...	OMIM:617872
Localized Scleroderma	Vasculitis, Gastroesophageal reflux, Skeletal muscle atrophy, Hypopigmented skin patches, Fasciit...	ORPHA:90289
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7	Herpes simplex encephalitis	OMIM:616532
Mucous Membrane Pemphigoid	Autoimmunity	ORPHA:46486
Mevalonic Aciduria	Vomiting, Diarrhea, Fluctuating splenomegaly, Morbilliform rash, Hepatosplenomegaly, Leukocytosis...	OMIM:610377
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Recurrent viral infections, Cholestasis, Lymphopenia, D...	OMIM:619573
Johanson-Blizzard Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Exocrine pancrea...	ORPHA:2315
Vasculitis, Lymphocytic, Nodular	Nodular inflammatory vasculitis	OMIM:192310
Cutaneous Small Vessel Vasculitis	Vasculitis, Recurrent skin infections, Skin rash	ORPHA:889
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:160010
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria, Megaloblastic anemia	OMIM:261100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E...	OMIM:174000
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Dengue Fever	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Bruising suscep...	ORPHA:99828
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Abnormality of the dentition, Eczematoid dermatitis, Cuta...	OMIM:618282
Denys-Drash Syndrome	Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma	ORPHA:220
Rotor Syndrome	Conjunctival icterus, Bilirubinuria, Abnormal circulating enzyme concentration or activity, Inter...	ORPHA:3111
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal bleeding, Palpitations, L...	ORPHA:86839
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology, Recurrent otitis media, Cryptorchidism, Agammaglobulinemia, Decreased...	OMIM:616910
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Glycogen Storage Disease Xi	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Anti-thyroglobulin antibody positivity, Elevated circulating thyroid-stimulating hormone concentr...	OMIM:274300
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Ab...	OMIM:123550
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo...	OMIM:231100
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Vomiting, Erysipelas, Hepatic amyloidosis, Cervical lymphadenopathy,...	OMIM:142680
Erdheim-Chester Disease	Congestive heart failure, Abnormal pericardium morphology, Osteomyelitis, Renal insufficiency, Sk...	ORPHA:35687
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Facial edema, Neonatal hyperbilirubinem...	ORPHA:95716
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Diarrhea, Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increa...	ORPHA:247598
Relapsing Polychondritis	Sensorineural hearing impairment, Scleritis, Hematuria, Inflammatory abnormality of the eye, Purp...	ORPHA:728
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Rectal abscess, Panhypogammaglobulinemia, Recurrent otitis media, Chronic di...	OMIM:601495
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency	ORPHA:1909
Cocaine Intoxication	Rhabdomyolysis, Hematuria, Colitis, Glomerulonephritis, Delirium, Tubulointerstitial nephritis, T...	ORPHA:90068
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Nail-Patella Syndrome	Keratoconus, Microcornea, Cataract, Nephrotic syndrome, Triceps aplasia, Quadriceps aplasia, Bice...	OMIM:161200
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ...	OMIM:614723
Immunodeficiency 83, Susceptibility To Viral Infections	Meningitis, Herpes simplex encephalitis	OMIM:613002
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Hypertrophic nerve changes, Peripheral demyelination, Decreased number of peripheral myelinated n...	OMIM:118200
Thyroid Hemiagenesis	Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Anti-thyroglo...	ORPHA:95719
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Lymphedema-Distichiasis Syndrome	Cataract, Ectropion, Recurrent urinary tract infections, Renal duplication, Proteinuria, Distichi...	ORPHA:33001
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio...	OMIM:143400
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Onion bulb formation, Segmental peripheral demyelination/remyelination, Segmental peripheral demy...	OMIM:606483
Fabry Disease	Diarrhea, Arrhythmia, Lipiduria, Renal insufficiency, Abnormal autonomic nervous system physiolog...	OMIM:301500
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Alport Syndrome	Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular...	ORPHA:63
Cowden Syndrome 5	Thyroid adenoma, Colonic diverticula, Goiter, Furrowed tongue, Narrow mouth, Ovarian cyst, Hypoth...	OMIM:615108
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P...	OMIM:618886
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Diarrhea, Abnormality of the urethra, Elevated circulating hepatic t...	ORPHA:36426
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hearing impairment, Lower limb muscle weakness, Elevated circulating alanine aminotransferase con...	ORPHA:365
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Cataract, Hearing impairment, En...	OMIM:301108
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level	ORPHA:2571
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Basal lamina onion bulb formation, Peripheral demyelination, Decreased number of peripheral myeli...	OMIM:614895
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Genu valgum, Gastr...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Genu valgum, Gastr...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Genu valgum, Gastr...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Genu valgum, Gastr...	ORPHA:881
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Onion bulb formation, Peripheral axonal neuropathy, Peripheral demyelination, Axonal degeneration...	OMIM:620378
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal...	ORPHA:284426
Hypertrophic Neuropathy Of Dejerine-Sottas	Hypertrophic nerve changes, Peripheral demyelination, Myelin tomacula, Decreased number of periph...	OMIM:145900
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia	OMIM:274240
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop...	ORPHA:381
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr...	OMIM:615605
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Cor pulmonale, Decreased circulating IgA level, Proteinuria, Macronodular cirrhosis, Mucopolysacc...	OMIM:215250
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Failure to thrive, Splenomegaly, Hepatic steatosis, Hepatomegaly	OMIM:614480
Cowden Syndrome 6	Thyroid adenoma, Colonic diverticula, Goiter, Furrowed tongue, Narrow mouth, Ovarian cyst, Hypoth...	OMIM:615109
L-2-Hydroxyglutaric Aciduria	Infectious encephalitis	ORPHA:79314
Tubulointerstitial Nephritis And Uveitis Syndrome	Red eye, Posterior synechiae of the anterior chamber, Retinal vasculitis, Increased circulating a...	ORPHA:91500
Addison Disease	Diarrhea, Adrenal calcification, Dry skin, Hypoparathyroidism, Renal salt wasting, Celiac disease...	ORPHA:85138
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Palmoplantar hyperkeratosis, Myoglobinuria, Renal insufficiency	ORPHA:2364
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le...	OMIM:603592
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity, Thick eyebrow, Cryptorchidism	OMIM:309585
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de...	OMIM:606482
Nocardiosis	Pneumonia, Unusual CNS infection, Sepsis, Brain abscess, Lymphadenitis, Cutaneous abscess, Kerati...	ORPHA:31204
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P...	OMIM:618213
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis	OMIM:134610
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Chronic kidney disease, Nephropathy, Elevated circulating cre...	OMIM:617056
46,Xy Partial Gonadal Dysgenesis	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,...	ORPHA:251510
Panhypophysitis	Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea...	ORPHA:95513
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Autoimmune hemolytic anemia, ...	ORPHA:100026
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Posterolateral d...	OMIM:194080
Gitelman Syndrome	Diarrhea, Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Ventricular fibri...	ORPHA:358
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Coach Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi...	OMIM:619113
Adenohypophysitis	Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr...	ORPHA:95512
Optic Atrophy 8	Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia...	OMIM:616648
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality...	ORPHA:537
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Oral-pharyngeal dysphagia, Hematuria,...	ORPHA:95455
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti...	OMIM:617610
Free Sialic Acid Storage Disease	Iris hypopigmentation, Splenomegaly, Proteinuria, Aplasia/Hypoplasia of the abdominal wall muscul...	ORPHA:834
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hype...	OMIM:619991
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Autoimmunity, Leukocytosis...	ORPHA:2902
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Long philtrum, Ascites, Hypocholesterolemia, Villous atrophy, Wide mouth, Spleno...	OMIM:608776
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Macroglossia, Joint contracture of the hand, Hip dislocation, Keratitis, Eczematoid dermatitis, D...	OMIM:618523
Variant Abeta2M Amyloidosis	Chronic kidney disease, Renal amyloidosis, Abnormal vascular morphology, Hepatic amyloidosis, Red...	ORPHA:314652
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, Elevated circulati...	OMIM:251880
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Thrombocytopenia, Absent axillary hair	OMIM:269600
Tick-Borne Encephalitis	Hearing impairment, Abnormal cranial nerve morphology, Cognitive impairment, Abnormality of the v...	ORPHA:297
Congenital Disorder Of Glycosylation, Type Iif	Ataxia, Aminoaciduria, Aortic regurgitation, Subcutaneous hemorrhage, Pulmonary hemorrhage, Decre...	OMIM:603585
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Optic atrophy, Pigmentary retinopathy, Vomiting, Glycosuria, Decreased liver funct...	ORPHA:436271
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Lymphadenitis, Hepatomegaly, Discoid lupus rash, Granuloma, Ecze...	OMIM:306400
Mannosidosis, Beta A, Lysosomal	Decreased circulating beta-mannosidase activity, Hearing impairment, Tortuosity of conjunctival v...	OMIM:248510
Riddle Syndrome	Enuresis nocturna, Decreased circulating IgG level, Pneumonia, Diarrhea, Recurrent pneumonia, Ery...	ORPHA:420741
Charcot-Marie-Tooth Disease, Type 4A	Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Axonal degene...	OMIM:214400
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Weight loss, Splenomegaly	ORPHA:79238
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Sheehan Syndrome	Dry skin, Central adrenal insufficiency, Decreased serum estradiol, Breast hypoplasia, Palpitatio...	ORPHA:91355
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Meningococcal Meningitis	Sepsis, Renal insufficiency, Skin rash, Infectious encephalitis, Papilledema	ORPHA:33475
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Inflammatory abnormality of the ...	ORPHA:94059
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, R...	OMIM:301110
Roussy-Levy Hereditary Areflexic Dystasia	Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio...	OMIM:180800
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Viral encephalitis	OMIM:619441
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Papilledema, Lymphadenopathy, Arthriti...	OMIM:607115
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Delayed cranial suture closure, Lymphopenia, Cryptorchidism, Atrial septal defect, Patent ductus ...	OMIM:620005
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:301050
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cataract, Cholelithiasis, Nephrocalcinosis, Diarrhea, Chronic mucocutaneous c...	OMIM:240300
Nipah Virus Disease	Recurrent pharyngitis, Infectious encephalitis	ORPHA:99825
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers, Periphe...	OMIM:118210
Cold Agglutinin Disease	Abnormal urinary color, Autoimmunity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a...	OMIM:619868
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hematochezia, Protein-losing enteropathy, Secretory diarrhea, Anasarca, Elevated...	OMIM:618183
Wolman Disease	Hepatomegaly, Splenomegaly, Failure to thrive	OMIM:620151
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Segmental per...	OMIM:118220
Sandhoff Disease	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:796
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Pulmonary venous hypertensi...	ORPHA:79128
Immunoglobulin A Vasculitis	Optic atrophy, Gastrointestinal hemorrhage, Vasculitis, Bruising susceptibility, Episcleritis, Sk...	ORPHA:761
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep...	OMIM:232220
Aicardi-Goutieres Syndrome 6	Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia, Hepatomegal...	OMIM:615010
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Increased circulating IgE level, Pustule, Coarctation of aorta, Hypertension	OMIM:616069
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Recurrent respirato...	OMIM:607616
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Diarrhea, Decreased circulating total IgG, Decreased lymphocyte proliferation in response to anti...	ORPHA:221139
Pierson Syndrome	Cataract, Nephrotic syndrome, Skeletal muscle atrophy, Retinal vascular tortuosity, Hypoplasia of...	OMIM:609049
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Hyperuricemia, Renal ...	OMIM:603860
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma...	ORPHA:85445
Multiple Sulfatase Deficiency	Peripheral demyelination, Splenomegaly, Mucopolysacchariduria, CNS demyelination, Hepatomegaly	OMIM:272200
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Intellectual Developmental Disorder, X-Linked 97	Obesity, Synophrys	OMIM:300803
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Axonal regeneration, Peripheral demyelination, Onion bulb formation	OMIM:615185
Acrorenal Syndrome	Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia	ORPHA:971
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neuropathy, Peripheral ...	ORPHA:101097
Dermatitis, Atopic	Allergic rhinitis, Keratoconus, Atopic dermatitis, Cataract, Eczematoid dermatitis, Conjunctiviti...	OMIM:603165
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hepatic necrosis, Fulminant hepatic failure, Hepatic steatosis, Myoglobinu...	OMIM:231530
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Optic atrophy, Pigmentary retinopathy, Glycosuria, Decreased liver function, Hyper...	OMIM:220110
Late-Onset Isolated Acth Deficiency	Diarrhea, Dry skin, Hypoparathyroidism, Celiac disease, Graves disease, Pituitary adenoma, Decrea...	ORPHA:199299
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal infections, BCGosis, Hepatomeg...	OMIM:616622
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Skin ulcer, Increased circulating anti...	ORPHA:48104
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Increased circulating interleukin 6 concentration, Acne inversa, Pannicul...	OMIM:608068
Caffey Disease	Increased circulating antibody level	ORPHA:1310
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Hypopituitarism, Microcytic anemia, Hepatosplenomegaly, Oligohydramnios, Hepatic...	OMIM:619013
Syndromic X-Linked Intellectual Disability 7	Obesity, Cryptorchidism, Sparse body hair	ORPHA:85274
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Decreas...	OMIM:618116
Mogs-Cdg	Decreased circulating IgG level, Generalized edema, Decreased circulating IgA level, Hepatospleno...	ORPHA:79330
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ...	OMIM:616576
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges...	ORPHA:231222
Cogan Syndrome	Aortic regurgitation, Vasculitis, Abnormal vestibular function, Keratitis, Vertigo, Large vessel ...	ORPHA:1467
Gray Platelet Syndrome	Myelodysplasia, Splenomegaly, Thrombocytopenia	ORPHA:721
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Autoimmunity, Skin ...	ORPHA:93672
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Dent Disease	Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul...	ORPHA:1652
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Inters...	OMIM:616433
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Wild Type Attr Amyloidosis	Nephropathy, Aortic valve stenosis, Autonomic bladder dysfunction, Elevated circulating alkaline ...	ORPHA:330001
Acquired Hypertrichosis Lanuginosa	Neoplasm of the respiratory system, Fine hair, Abnormal eyebrow morphology, Neoplasm, Generalized...	ORPHA:2221
Dermatomyositis	Abnormal eosinophil morphology, Anti-transcription intermediary factor-1gamma antibody positivity...	ORPHA:221
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria...	ORPHA:447
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Ketonuria, Glycosuria, Pancreatic hypoplasia, Bilateral ptosis, Hearing imp...	ORPHA:99885
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Decreased lymphocyte proliferation...	OMIM:619313
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso...	ORPHA:320401
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Prolonged bleeding time, Bruising susceptibility, Ly...	ORPHA:3226
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Majeed Syndrome	Acne, Inflammatory abnormality of the skin, Osteomyelitis, Leukocytosis, Splenomegaly, Proteinuri...	ORPHA:77297
Necrobiosis Lipoidica	Erythema, Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma, ...	ORPHA:542592
Melas	Nephropathy, Diarrhea, Myopathy, Sensorineural hearing impairment, Ataxia, Hypoparathyroidism, Fo...	ORPHA:550
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Megal...	OMIM:618882
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased circulating IgA level, Decreased proportion of class-s...	OMIM:614878
Hennekam Syndrome	Arteriovenous malformation, Lymphopenia, Narrow mouth, Pulmonary lymphangiectasia, Ectopic kidney...	ORPHA:2136
Cockayne Syndrome Type 3	Lentiglobus, Aortic root aneurysm, Premature graying of hair, Retinal hemorrhage, Cognitive impai...	ORPHA:90324
Ménétrier Disease	Hypoalbuminemia, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Gastroesophageal reflux, Periph...	ORPHA:2494
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Giant cell hepatitis, Cholestatic liver disease, Aminoaciduria, Nephrocalcinosis, Gl...	OMIM:613404
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Vomiting, Dicarboxylic aciduria, Hyperbilirubin...	OMIM:613070
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Episcleritis, Cytoplasmic antineutrophil antibody positiv...	OMIM:608710
Peroxisome Biogenesis Disorder 8B	Optic atrophy, Peripheral demyelination, Decreased liver function, Leukodystrophy	OMIM:614877
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormal liver parenchyma morpho...	ORPHA:3032
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni...	OMIM:619902
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras...	ORPHA:324964
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Failure to thrive	OMIM:230350
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Vomiting, Diarrhea, Decreased HDL cholesterol concentration, D...	ORPHA:247585
Macrocephaly/Autism Syndrome	Dilation of Virchow-Robin spaces, Long philtrum, Recurrent otitis media, Lymphopenia, Penile frec...	OMIM:605309
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Urinary incontinence, Peripheral demyelination, CNS demyelination	OMIM:249900
Fabry Disease	Nephropathy, Hearing impairment, Mitral regurgitation, Sensorineural hearing impairment, Hematuri...	ORPHA:324
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Narrow mouth, Cryptorchidism, Ventricular septal defect, Atrial se...	OMIM:235510
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal peri...	ORPHA:83469
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Generalized edema, Abnormal bleeding, Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Congenital Analbuminemia	Hypoalbuminemia, Facial edema, Edema, Oligohydramnios, Hyperlipidemia, Increased circulating anti...	ORPHA:86816
Spastic Paraplegia With Neuropathy And Poikiloderma	Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation	OMIM:182815
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul...	OMIM:608340
Immunodeficiency 12	Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent...	OMIM:615468
Lead Poisoning	Chronic kidney disease, Abnormality of humoral immunity, Vomiting, Delayed eruption of teeth, Imb...	ORPHA:330015
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Cerebral Visual Impairment	Unusual CNS infection, Optic atrophy, Infectious encephalitis, Optic disc pallor, Meningitis, Inc...	ORPHA:447788
Hepatitis, Fulminant Viral, Susceptibility To	Gingival bleeding, Type I diabetes mellitus, Hashimoto thyroiditis, Jaundice, Hepatomegaly, Nause...	OMIM:618549
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia	OMIM:256450
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Crouzon Syndrome	Optic atrophy, Conductive hearing impairment, Hearing impairment, Hypopigmented skin patches, Nar...	ORPHA:207
Frasier Syndrome	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa...	ORPHA:347
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Goiter, Increased circulating free T3, Increased circulating free T4 concentration, Impaired sens...	OMIM:188570
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Cleft lip, Decreased response to growth hormone stimulation test, Con...	OMIM:618223
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Hereditary Xanthinuria	Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urinary tract infec...	ORPHA:3467
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilia, Recurrent viral infections, Recurrent respiratory ...	OMIM:620532
Lyme Disease	Atrioventricular block, Joint swelling, Infectious encephalitis, Arrhythmia, Arthritis, Uveitis	ORPHA:91546
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,...	OMIM:611762
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hepatomegaly,...	ORPHA:699
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Long philtrum, Ascites, Decrease...	OMIM:608104
Trichothiodystrophy	Microcornea, Eczematoid dermatitis, Increased mean corpuscular hemoglobin concentration, Panhypog...	ORPHA:33364
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M...	ORPHA:231401
Obesity And Hypopigmentation	Red hair, Overgrowth, Obesity, Hepatic steatosis	OMIM:620195
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid...	ORPHA:158057
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Decreased circulating IgA level, Ileus, Hyperinsulinemia, Splenomegaly, Hype...	OMIM:613327
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Alveolar Echinococcosis	Vomiting, Biliary cirrhosis, Cutaneous abscess, Budd-Chiari syndrome, Abnormal mesentery morpholo...	ORPHA:284
Glycogen Storage Disease V	Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232600
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Increase...	ORPHA:77261
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Ascites, Hypogonadism...	ORPHA:2905
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, Long palpebral ...	OMIM:602562
Infantile Sialic Acid Storage Disease	Congestive heart failure, Ascites, Gingival overgrowth, Splenomegaly, Cardiomegaly, Vacuolated ly...	OMIM:269920
Complement Component 4B Deficiency	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Menin...	OMIM:614379
Japanese Encephalitis	Genu recurvatum, Diarrhea, Vomiting, Elbow flexion contracture, Infectious encephalitis, Increase...	ORPHA:79139
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Wolcott-Rallison Syndrome	Chronic kidney disease, Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hy...	ORPHA:1667
Rasmussen Subacute Encephalitis	Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat...	ORPHA:1929
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Autoimmune hemo...	ORPHA:760
Yao Syndrome	Ventricular hypertrophy, Uveitis, Inflammatory abnormality of the skin, Diarrhea, Xerostomia, Ski...	OMIM:617321
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Hyperuricemia, Proteinuria, Abnorm...	ORPHA:261222
Vici Syndrome	Everted upper lip vermilion, Lymphopenia, Decreased proportion of CD4-positive helper T cells, At...	OMIM:242840
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Low-set ears, Hematuria, Neutropenia, Delirium, Hepatomegaly, Tachycardia, Macrotia,...	OMIM:277400
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Weight loss, Lymphadenopathy, Hepa...	ORPHA:391
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formation	OMIM:601098
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Conductive hearing impairment, Elevated urinary norepinephrine l...	ORPHA:276621
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:268200
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Abnormal pericardium morphology, Isch...	ORPHA:679
Laryngeal Neuroendocrine Tumor	Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Chronic noninfecti...	ORPHA:100083
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont...	OMIM:604416
Coenzyme Q10 Deficiency, Primary, 8	Peripheral demyelination, Abnormal renal corticomedullary differentiation, Renal dysplasia	OMIM:616733
Dominant Beta-Thalassemia	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231226
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint dislocation, Joint swelling, Osteoarthritis, Arthritis	ORPHA:1416
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, Pachygyria, Recurrent aphthous stomatitis, B lymphocytop...	OMIM:615966
Hartnup Disease	Abnormal urinary color, Skin rash, Neutral hyperaminoaciduria, Infectious encephalitis	ORPHA:2116
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit...	ORPHA:543
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Renal insufficiency, Gout, Hyperuricosuria, Macroscopic hematur...	ORPHA:79233
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Elevated circulating thyroid-stimulating hormone concentration, Megacystis, ...	ORPHA:209905
Holocarboxylase Synthetase Deficiency	Perioral eczema, Eczematoid dermatitis, Organic aciduria, Keratoconjunctivitis, Thrombocytopenia,...	ORPHA:79242
Cranio-Osteoarthropathy	Eczematoid dermatitis, Joint swelling, Osteoarthritis, Arthritis, Abnormality of the knee	ORPHA:1525
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Recurrent bronchitis	OMIM:300455
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Neutropenia, Hepatomegaly, Recurrent lower respiratory tract inf...	OMIM:612541
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Cataract, Recurrent pneumonia, Cor pulmonale, Chronic mucocutaneous candidiasis, Heari...	OMIM:158310
Charcot-Marie-Tooth Disease, Type 4C	Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Axonal degeneration, Periph...	OMIM:601596
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Protein-losing enteropathy, Diarrhea, Vomiting, Proximal tubul...	OMIM:602579
Coproporphyria, Hereditary	Vomiting, Diarrhea, Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Spl...	OMIM:121300
Immunodeficiency 31C	Chronic mucocutaneous candidiasis, Decreased lymphocyte proliferation in response to anti-CD3, Re...	OMIM:614162
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mesangial hypercellularity	OMIM:620425
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Methionine Adenosyltransferase I/Iii Deficiency	Peripheral demyelination, CNS demyelination	OMIM:250850
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration	OMIM:607791
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Leukodystrophy	DECIPHER:59
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Oculorenocerebellar Syndrome	Nephropathy, Glomerular sclerosis	OMIM:257970
Immunodeficiency 54	Reduced natural killer cell count, Recurrent viral infections, Splenomegaly, Lymphadenopathy, Hep...	OMIM:609981
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Anti-Ro/SS-A antibody positivity, Rheumatoid factor positive, Anti-dsDNA anti...	ORPHA:163525
Progressive Pseudorheumatoid Dysplasia	Joint contracture of the hand, Camptodactyly of finger, Enlarged interphalangeal joints, Joint sw...	OMIM:208230
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu...	OMIM:127550
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Aplasia/Hypopla...	ORPHA:100
Hyperthyroidism, Nonautoimmune	Anti-thyroglobulin antibody positivity, Thyroid hyperplasia, Goiter, Decreased thyroid-stimulatin...	OMIM:609152
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Micronodula...	OMIM:192315
Null Syndrome	Optic atrophy, Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy	ORPHA:280234
Cinca Syndrome	Abnormality of neutrophils, Joint dislocation, Abnormal joint morphology, Leukocytosis, Splenomeg...	ORPHA:1451
Dyskeratosis Congenita, X-Linked	Premature graying of hair, Pancytopenia, Sparse eyelashes, Cirrhosis, Acute myeloid leukemia, Ata...	OMIM:305000
Anaplastic Thyroid Carcinoma	Goiter, Tracheoesophageal fistula, Dysphagia, Lymphadenopathy, Nodular goiter, Anaplastic thyroid...	ORPHA:142
Posterior Column Ataxia With Retinitis Pigmentosa	Urinary incontinence, Optic atrophy, Peripheral demyelination, Recurrent urinary tract infections	OMIM:609033
Metachromatic Leukodystrophy	Optic atrophy, Peripheral demyelination, Reduced leukocyte arylsulfatase A activity, Cholecystiti...	OMIM:250100
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr...	OMIM:619693
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo...	ORPHA:508533
Lesch-Nyhan Syndrome	Hematuria, Gout, Renal insufficiency	ORPHA:510
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
22Q11.2 Deletion Syndrome	Carious teeth, Narrow mouth, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Pat...	ORPHA:567
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Gout, ...	OMIM:618061
Beta-Thalassemia	Cholelithiasis, Hepatitis, Skin ulcer, Microcytic anemia, Hypertrophic cardiomyopathy, Pallor, Sp...	ORPHA:848
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Axonal regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607731
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Peripheral demyelination, Onion bulb formation	OMIM:618279
Xq28 (MECP2) duplication	Gastroesophageal reflux, Functional abnormality of the bladder, Decreased circulating IgA level, ...	DECIPHER:45
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo...	OMIM:278850
Syndromic Diarrhea	Lymphopenia, Dry skin, Ventricular septal defect, Colitis, Hepatoblastoma, Cirrhosis, Bicuspid ao...	ORPHA:84064
Acromegaly	Acne, Pituitary prolactin cell adenoma, Mitral regurgitation, Elevated circulating growth hormone...	ORPHA:963
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia...	OMIM:275350
Slowed Nerve Conduction Velocity, Autosomal Dominant	Peripheral demyelination, Onion bulb formation	OMIM:608236
Pendred Syndrome	Thyroid carcinoma, Compensated hypothyroidism, Increased circulating thyroglobulin concentration,...	OMIM:274600
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Recurrent respiratory infections, Hepatocellular necrosis, Hepat...	OMIM:618278
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Malar rash, Abnorm...	ORPHA:398124
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607677
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute demyelinating polyneuropathy, Onion bulb formation	ORPHA:98916
Familial Cold Urticaria	Sensorineural hearing impairment, Hyperhidrosis, Arthritis, Conjunctivitis, Dysesthesia	ORPHA:47045
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Abnormal urinary color, Systemic lupus erythematosus, Autoimmunity, Aut...	ORPHA:90033
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Molybdenum Cofactor Deficiency, Type A	Decreased urinary urate, Increased urinary taurine, Sulfite oxidase deficiency, Aldehyde oxidase ...	OMIM:252150
Acquired Generalized Lipodystrophy	Abnormality of complement system, Cardiomyopathy, Abnormal circulating lipid concentration, Insul...	ORPHA:79086
Babesiosis	Hepatic failure, Leukopenia, Splenomegaly, Thrombocytopenia, Recurrent pharyngitis, Hepatomegaly,...	ORPHA:108
Melioidosis	Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Abnormalit...	ORPHA:31202
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper...	ORPHA:369
Multicentric Carpotarsal Osteolysis Syndrome	Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:166300
Chronic Inflammatory Demyelinating Polyneuropathy	Segmental peripheral demyelination/remyelination, Peripheral demyelination	ORPHA:2932
Trichinellosis	Memory impairment, Increased circulating IgE level, Central retinal artery occlusion, Confusion, ...	ORPHA:863
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Polyhydram...	OMIM:607143
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Ventricular se...	ORPHA:26793
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Recurrent urinary tract infections, Abnormal hemoglobin, Infectious encephalitis, ...	ORPHA:847
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame...	OMIM:617021
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Pancytopenia, Autoimmunity, Splenomegaly, Anemia, Panniculitis	OMIM:618398
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration/regeneration, Decreased...	OMIM:607706
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Anti-glomerular basement membrane-antibod...	OMIM:233450
Panner Disease	Limited elbow extension, Joint swelling, Abnormality of upper limb joint, Limited elbow movement,...	ORPHA:97336
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Hypotension, Ascites, Increased proportion of CD25+ mast c...	ORPHA:98850
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel...	OMIM:609311
Graves Disease	Graves disease, Abnormal abdomen morphology, Congestive heart failure, Goiter, Increased circulat...	OMIM:275000
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d...	OMIM:214900
Fusariosis	Abnormality of the spleen, Lymphopenia, Neutropenia, Abnormality of the kidney, Unusual CNS infec...	ORPHA:228119
Leigh Syndrome, Nuclear	Optic atrophy, CNS demyelination, Hepatocellular necrosis	OMIM:256000
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Glomerular sclerosis, Paroxysmal vertigo, Cranial nerve compression, Aniridia, Palpita...	ORPHA:29072
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating hepatic transaminase concentra...	ORPHA:26791
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy	OMIM:608673
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Cockayne Syndrome	Lentiglobus, Mental deterioration, Cognitive impairment, Ataxia, Urinary incontinence, Hepatomega...	ORPHA:191
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decrea...	ORPHA:713
Megabladder, Congenital	Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys	OMIM:618719
Familial Cold Autoinflammatory Syndrome 3	Allergic rhinitis, Erythema, Angioedema, Recurrent otitis media, Hashimoto thyroiditis, Antinucle...	OMIM:614468
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Optic atrophy, Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve ...	OMIM:609260
Caroli Syndrome	Hypersplenism, Congenital hepatic fibrosis, Elevated circulating alkaline phosphatase concentrati...	ORPHA:480520
Familial Afibrinogenemia	Gingival bleeding, Epistaxis, Abnormal bleeding, Joint swelling, Cerebral hemorrhage	ORPHA:98880
Glycogen Storage Disease Vii	Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-ind...	OMIM:232800
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Ataxia, Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, Sens...	OMIM:616084
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Peripheral demyelination, Axonal degeneration/regeneration	OMIM:607736
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Axonal loss, Urinary incontinence, Peripheral demyelination	OMIM:221770
Porphyria, Congenital Erythropoietic	Cholelithiasis, Joint contracture of the hand, Hypopigmentation of the skin, Corneal scarring, Re...	OMIM:263700
Congenital Bile Acid Synthesis Defect Type 1	Failure to thrive, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, C...	ORPHA:79301
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph...	ORPHA:54251
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Proteus Syndrome	Depigmentation/hyperpigmentation of skin, Downslanted palpebral fissures, Venous malformation, Sp...	OMIM:176920
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency	ORPHA:254857
Caroli Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ...	ORPHA:53035
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Onion bulb formation, Peripheral hypomyelination	OMIM:605253
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Alopecia, Dystrophic toenail, Sparse body hair, Stomach cancer, Intes...	ORPHA:2930
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Obesity, G...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Obesity, G...	ORPHA:71526
Hyperoxaluria, Primary, Type Ii	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis	OMIM:260000
Charcot-Marie-Tooth Disease, Type 4B2	Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip...	OMIM:604563
Tumoral Calcinosis, Normophosphatemic, Familial	Conjunctivitis	OMIM:610455
Charcot-Marie-Tooth Disease Type 4G	Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy	ORPHA:99953
Bloom Syndrome	Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-positive T cells, Tela...	ORPHA:125
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Hepatocellular...	OMIM:256810
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Low-set ears, Cupped ear, Periorbital dermoid cyst, Lacrimal duct stenosis, Renal cyst, Scapular ...	OMIM:615560
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Abno...	OMIM:232200
Methanol Poisoning	Permanent atrial fibrillation, Inflammatory arteriopathy, Hyperlipidemia, Cerebral hemorrhage, In...	ORPHA:31825
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria, Hypoph...	OMIM:616026
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231214
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia	OMIM:270300
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Pyelonephritis, Renal dysplasia, Unilateral renal atrophy	OMIM:314300
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Peripheral demyelination	OMIM:616684
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Somatomammotropinoma	Abnormality of the dentition, Macroglossia, Pituitary adenoma, Increased circulating prolactin co...	ORPHA:314769
Pallister-Hall Syndrome	Natal tooth, Cryptorchidism, Ventricular septal defect, Radial head subluxation, Anal atresia, Ec...	OMIM:146510
Multiple Endocrine Neoplasia Type 2	Diarrhea, Abnormal tongue morphology, Elevated urinary vanillylmandelic acid, Elevated urinary ca...	ORPHA:653
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Downturned corners of mouth, Long philtrum, Recurrent...	OMIM:616651
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Abnormality of the dentition, Eczematoid dermatitis, Delayed eruption of teeth, Skin ulcer, Incre...	ORPHA:2314
Hyperuricemia, Hprt-Related	Hyperuricosuria, Renal insufficiency, Podagra, Nephrolithiasis	OMIM:300323
Linear Iga Dermatosis	Inflammation of the large intestine, Autoimmunity	ORPHA:46488
Lamellar Ichthyosis	Dry skin, Renal insufficiency, Lack of skin elasticity, Erythroderma, Hyperkeratosis, Chronic oti...	ORPHA:313
Castleman Disease	Restrictive cardiomyopathy, Anasarca, Ureteral obstruction, Renal insufficiency, Follicular hyper...	ORPHA:160
Wilson Disease	Hypouricemia, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Hypoparathyroidism, Jaundice, Dec...	OMIM:277900
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Recurrent s...	OMIM:214500
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Recurrent infection of ...	OMIM:613489
Pseudohypoparathyroidism Type 1B	Cataract, Low urinary cyclic AMP response to PTH administration, Decreased response to growth hor...	ORPHA:94089
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
Progressive Pseudorheumatoid Arthropathy Of Childhood	Joint contracture of the hand, Wrist swelling, Irregular acetabular roof, Abnormal hip joint morp...	ORPHA:1159
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Biotinidase Deficiency	Optic atrophy, Organic aciduria, Eczematoid dermatitis, Hearing impairment, Limb muscle weakness,...	ORPHA:79241
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Poliomyelitis	Absent tonsils, Meningitis, Myelitis, Infectious encephalitis	ORPHA:2912
Cockayne Syndrome Type 2	Hearing impairment, Limb hypertonia, Developmental cataract, Ataxia, Hepatomegaly, Conjunctivitis...	ORPHA:90322
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Jejunoileal ulceration, Intestinal malro...	ORPHA:436252
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Palmoplantar keratoderma, Erythroderma, Hyperkeratosis	ORPHA:312
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Cholestasis, Portal hypertension, Splenomegaly, Sparse eyelashe...	ORPHA:59303
Tenosynovial Giant Cell Tumor	Chondrocalcinosis, Abnormality of the ankle, Lymphedema, Abnormal hip joint morphology, Polyartic...	ORPHA:66627
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St...	OMIM:308940
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Ankle flexion contracture, Gastroesophageal reflux, Distal amyotrophy, Sensorineural hearing impa...	OMIM:617519
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Low-set ears, Sparse eyebrow, Downslanted palpebral fissures, Sparse eyelashes, Hematuria, Epican...	OMIM:616901
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ...	ORPHA:226313
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Peripheral demyelination, Axonal degeneration, Peripheral hypomye...	OMIM:604168
Rhabdoid Tumor	Hypercalcemia, Renal neoplasm, Hematuria, Neoplasm of the liver, Internal hemorrhage, Lymphadenop...	ORPHA:69077
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Hepatocellular necrosis, Dicarboxylic aciduria, Exercise-induced myoglobinur...	OMIM:201475
Tafro Syndrome	Anasarca, Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Pleural e...	ORPHA:457077
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u...	ORPHA:230
Mohr-Tranebjaerg Syndrome	Optic atrophy, Mental deterioration, Prelingual sensorineural hearing impairment, Abnormal vestib...	ORPHA:52368
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta...	OMIM:231680
Adult-Onset Nemaline Myopathy	Neuromuscular dysphagia, Dilated cardiomyopathy, Paraproteinemia, High palate, Mildly elevated cr...	ORPHA:171442
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Increased circulating IgE level, Recurrent joint dis...	OMIM:619472
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Hepatomegaly, Ane...	OMIM:612301
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Reduced circulating aldolase concentration, Decreased muscle mass, Muscle fi...	ORPHA:57
Classical Ehlers-Danlos Syndrome	Aortic root aneurysm, Mitral regurgitation, Chronic constipation, Mitral valve prolapse, Patellar...	ORPHA:287
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Renal insufficiency, Splenomegaly, Hyperammonemia, Stroke, Hepatomegaly, Pancreat...	ORPHA:79312
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Atrial septal defect, Hypoparathyroidism, Renal dysplasia, Patent duc...	ORPHA:369837
Generalized Pustular Psoriasis	Hypoalbuminemia, Congestive heart failure, Lymphopenia, Renal insufficiency, Leukocytosis, Hypoca...	ORPHA:247353
Sweet Syndrome	Abnormal circulating interleukin concentration, Inflammation of the large intestine, Dilated card...	ORPHA:3243
Autoimmune Thyroid Disease, Susceptibility To, 3	Thyroiditis	OMIM:608175
Inclusion Body Myositis	Autoimmunity, Elevated circulating creatine kinase concentration	ORPHA:611
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic...	OMIM:617087
Refractory Anemia	Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut...	ORPHA:98826
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatome...	OMIM:613313
Alagille Syndrome 2	Cholestatic liver disease, Renal hypoplasia, Peripheral pulmonary artery stenosis, Cholestasis, T...	OMIM:610205
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuri...	OMIM:254900
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo...	OMIM:300653
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge...	OMIM:223900
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly	ORPHA:33402
Spinocerebellar Ataxia Type 43	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy	ORPHA:497764
Isolated Thyroid-Stimulating Hormone Deficiency	Facial edema, Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirub...	ORPHA:90674
Monosomy 18Q	Aortic valve stenosis, Open mouth, Mitral regurgitation, High palate, Patent ductus arteriosus, D...	ORPHA:1600
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Redu...	OMIM:618805
Spastic Paraplegia 55, Autosomal Recessive	Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation	OMIM:615035
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Diarrhea, Increased circulating cortisol level, Shortened QT interval,...	ORPHA:652
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Neuropathy, Hereditary, With Liability To Pressure Palsies	Segmental peripheral demyelination/remyelination	OMIM:162500
Charcot-Marie-Tooth Disease Type 1F	Proximal muscle weakness in lower limbs, Positive Romberg sign, Hand muscle atrophy, Sensorineura...	ORPHA:101085
Alg1-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Cardiomyopathy, Abnormal heart morphology, Renal ins...	ORPHA:79327
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory...	OMIM:125250
Acute Promyelocytic Leukemia	Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi...	ORPHA:520
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Hyperkeratosis Lenticularis Perstans	Skin ulcer	ORPHA:409
Specific Granule Deficiency 2	Recurrent pneumonia, Sepsis, Recurrent otitis media, Absent neutrophil specific granules, Anemia,...	OMIM:617475
46,Xy Sex Reversal 4	Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs...	OMIM:154230
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency	OMIM:620235
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Osteochondritis Dissecans	Limited elbow flexion, Abnormal joint morphology, Limited elbow extension, Joint swelling, Abnorm...	ORPHA:2764
Radiation Proctitis	Hematochezia, Arteritis, Abnormal vascular morphology, Abnormal gastrointestinal vascular morphol...	ORPHA:70475
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Amyloidosis, Finnish Type	Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Cutis laxa, Nephrotic syndrome...	OMIM:105120
Kid Syndrome	Posterior blepharitis, Prelingual sensorineural hearing impairment, Aplastic/hypoplastic lacrimal...	ORPHA:477
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Congenital hypothyroidism, Cardiomegaly, Colitis, Craniosynostosis	ORPHA:88643
Neuroleptic Malignant Syndrome	Aspiration pneumonia, Rhabdomyolysis, Elevated circulating alkaline phosphatase concentration, My...	ORPHA:94093
Xeroderma Pigmentosum, Complementation Group D	Cataract, Mental deterioration, Keratitis, Corneal neovascularization, Sensorineural hearing impa...	OMIM:278730
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Red-brown urine, Hypopigmentation of the skin, Abnormal bleeding, Purple...	ORPHA:95159
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Decreased circulating alpha-mannosidase activity, Hepatomegaly, Reduced leukocyte a...	OMIM:248500
Chronic Granulomatous Disease	Sepsis, Abnormality of neutrophils, Eczematoid dermatitis, Splenomegaly, Otitis media, Inflammato...	ORPHA:379
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Ketonuria, Beta 2-microglobulinuria, Glycosuria, Hyperbi...	OMIM:227810
Gaucher Disease Type 2	Hepatomegaly, Recurrent respiratory infections, Splenomegaly	ORPHA:77260
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival...	OMIM:180550
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Neuropathy, Congenital Hypomyelinating, 2	Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers	OMIM:618184
Systemic Lupus Erythematosus, Susceptibility To, 6	Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis	OMIM:609939
Intermittent Hydrarthrosis	Abnormality of the knee, Chondrocalcinosis, Joint swelling, Knee joint hypermobility	ORPHA:329967
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ankyloblepharon, Conductive hearing impairment, Atresia of the external auditory canal, Lacrimal ...	OMIM:106260
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Peripheral demyelination	ORPHA:99944
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Perioral erythema, Impaired T cell function, Hypogonadism, Decreased testicular size, D...	OMIM:201100
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Glutaric Aciduria Iii	Glutaric aciduria, Diarrhea, Vomiting, Goiter, Hyperthyroidism, Hypertension	OMIM:231690
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, Acute hepatic fai...	ORPHA:71212
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Peripheral axonal atrophy, Foot osteomyelitis, Axonal degeneration/regeneration, Decreased number...	OMIM:600882
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Lymphadenit...	ORPHA:51636
Xeroderma Pigmentosum, Complementation Group A	Mental deterioration, Keratitis, Distal sensory impairment, Sensorineural hearing impairment, Tel...	OMIM:278700
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
African Trypanosomiasis	Diarrhea, Hepatosplenomegaly, Arrhythmia, Urinary incontinence, Hepatomegaly, Jaundice, Delirium,...	ORPHA:3385
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Obesity, Hirsutism	OMIM:184700
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral myelinated ner...	OMIM:620542
Autosomal Dominant Progressive External Ophthalmoplegia	Gastroesophageal reflux, Dilated cardiomyopathy, Goiter, Gastroparesis, Reduced left ventricular ...	ORPHA:254892
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Axonal loss, Peripheral demyelination	OMIM:617672
Dracunculiasis	Recurrent cutaneous abscess formation, Skin ulcer, Skin rash, Arthritis	ORPHA:231
Pseudoleprechaunism Syndrome, Patterson Type	Premature adrenarche, Increased circulating androgen concentration, Genu valgum, Joint swelling, ...	ORPHA:2976
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi...	OMIM:615862
Mirage Syndrome	Hypospadias, Sepsis, Microphallus, Recurrent urinary tract infections, Aspiration pneumonia, Lymp...	OMIM:617053
Eosinophilic Gastroenteritis	Allergic rhinitis, Hematochezia, Atopic dermatitis, Vomiting, Diarrhea, Hypoalbuminemia, Protein-...	ORPHA:2070
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Onion bulb formation, Peripheral axonal atrophy, Axonal degeneration/regeneration, Decreased numb...	OMIM:605588
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Neurocutaneous Melanocytosis	Renal hypoplasia/aplasia, Infectious encephalitis	ORPHA:2481
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Uric acid nephrolithi...	ORPHA:411543
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Intermediate Uveitis	Cataract, Vasculitis, Band keratopathy, Posterior synechiae of the anterior chamber, Psoriasiform...	ORPHA:279914
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Spider hemangioma, Cycli...	OMIM:232240
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Increased circulating IgE level, Abnormality of the ureter, Hypogonadism...	ORPHA:3409
Liddle Syndrome	Nephropathy, Renal insufficiency	ORPHA:526
Aplasia Cutis Congenita	Erythema, Skin ulcer	ORPHA:1114
Lig4 Syndrome	Erythema, Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Type II diabetes mellitus, ...	ORPHA:99812
Juvenile Arthritis	Antinuclear antibody positivity, Leukocytosis, Thrombocytosis	OMIM:618795
Relapsing Fever	Epistaxis, Acute kidney injury, Abnormality of the urinary system, Diarrhea, Vomiting, Hypotensio...	ORPHA:91547
B4Galt1-Cdg	Inflammatory abnormality of the skin, Diarrhea, Abnormal bleeding, Long philtrum, Splenomegaly, R...	ORPHA:79332
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Nephroblastoma	Neoplasm, Nephroblastoma, Neoplasm of the liver, Weight loss, Lymphadenopathy, Neoplasm of the lung	ORPHA:654
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Neoplasm of the adrenal gland, Colorectal polyposis, Abnormal cem...	ORPHA:733
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath...	ORPHA:411634
Netherton Syndrome	Aminoaciduria, Eczematoid dermatitis, Increased circulating IgE level, Dry skin, Skin rash, Hydro...	ORPHA:634
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Axonal regeneration, Onion bulb formation	OMIM:608323
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer...	OMIM:263300
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Bronchiectasis,...	OMIM:613490
Ciliary Dyskinesia, Primary, 37	Goiter, Right aortic arch, Situs inversus totalis, Chronic rhinitis, Hypothyroidism, Dextrocardia...	OMIM:617577
Dyskeratosis Congenita	Carious teeth, Periodontitis, Displacement of the urethral meatus, Cirrhosis, Hepatomegaly, Esoph...	ORPHA:1775
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circulating ferritin co...	OMIM:194380
Hereditary Orotic Aciduria	Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Splenomegaly,...	ORPHA:30
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Dilated cardiomyopathy, Congestive heart failure, Ascites, Hepatosplenomegaly, A...	ORPHA:367
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers	ORPHA:2386
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Usmani-Riazuddin Syndrome, Autosomal Recessive	Conjunctival hyperemia, Epicanthus, Low-set ears, Posteriorly rotated ears	OMIM:619548
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Onion bulb formation	OMIM:610100
Sjogren Syndrome	Rheumatoid arthritis, Xerostomia, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ne...	OMIM:270150
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Carious teeth, Abnormal circulating selenium concentration, IgA depositio...	ORPHA:79408
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Hepatosplenomegaly, Peripheral demyelination, Portal hypertension, Peripheral hypomyelination, De...	OMIM:609136
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Nijmegen Breakage Syndrome	Recurrent pneumonia, Diarrhea, Progressive vitiligo, Retinal pigment epithelial mottling, Recurre...	OMIM:251260
Ascher Syndrome	Goiter, Upper eyelid edema, Abnormal upper lip morphology, Hypothyroidism, High palate	ORPHA:1253
Sinding-Larsen-Johansson Disease	Osteochondrosis, Joint swelling, Limitation of knee mobility	ORPHA:97337
Hepatic Veno-Occlusive Disease	Renal insufficiency	ORPHA:890
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Autoimmune Polyendocrinopathy Type 2	Type I diabetes mellitus, Graves disease, Hypogonadism, Primary adrenal insufficiency, Abnormalit...	ORPHA:3143
Orthostatic Hypotension 1	Elevated circulating dihydroxyphenylacetic acid concentration, Nocturia, Increased blood urea nit...	OMIM:223360
Congenital Erythropoietic Porphyria	Scleritis, Keratoconjunctivitis, Poikilocytosis, Corneal ulceration, Seborrhoeic blepharitis, Hyp...	ORPHA:79277
Pemphigus Erythematosus	Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Autoimmunity, Mala...	ORPHA:79480
Spinocerebellar Ataxia Type 25	Decreased number of large peripheral myelinated nerve fibers, Urinary urgency	ORPHA:101111
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Vici Syndrome	Decreased circulating IgG level, Cataract, Optic atrophy, Hypopigmentation of the skin, Cardiomyo...	ORPHA:1493
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer	ORPHA:2218
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Adult Polyglucosan Body Disease	Urinary incontinence, Neurogenic bladder, Skin ulcer, Urinary bladder sphincter dysfunction	ORPHA:206583
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Hyperkalemia, Pleural empyema, Intestinal perforation, Abnormal circulating chemokine c...	ORPHA:544482
Immunoglobulin Kappa Light Chain Deficiency	Absent circulating immunoglobulin kappa chain	OMIM:614102
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Pancreatitis, Renal insufficiency, Lacticaciduria	OMIM:619386
Congenital Toxoplasmosis	Diarrhea, Elevated circulating hepatic transaminase concentration, Hearing impairment, Abnormalit...	ORPHA:858
Primary Fanconi Renotubular Syndrome	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co...	ORPHA:3337
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level, Patent ductus arteriosus	ORPHA:99811
Digeorge Syndrome	Recurrent otitis media, Intervertebral disk degeneration, Ovarian cyst, Hepatic steatosis, Ventri...	OMIM:188400
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Obesity, Truncal obesity	OMIM:240900
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating...	OMIM:248250
Thyroid Dyshormonogenesis 1	Goiter, Dry skin, Hypothyroidism, Constipation, Macroglossia	OMIM:274400
Adult Krabbe Disease	Urinary incontinence, Peripheral demyelination, Abnormal circulating enzyme concentration or acti...	ORPHA:206448
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Renal insufficiency, Hyperkeratosis	ORPHA:281090
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Oligohydramnios, Polyhydramnios, Splenomegaly, Narrow mouth, ...	ORPHA:1046
Sepsis In Premature Infants	Diarrhea, Neutropenia, Hepatomegaly, Jaundice, Elevated circulating C-reactive protein concentrat...	ORPHA:90051
Arboleda-Tham Syndrome	Low-set ears, Recurrent otitis media, Underdeveloped tragus, Ventricular septal defect, Epicanthu...	OMIM:616268
Lipoma Of The Conjunctiva	Conjunctival lipoma	OMIM:151700
Papillorenal Syndrome	Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Optic disc colo...	OMIM:120330
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Abnormality of the kidney, Histio...	ORPHA:168569
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase ...	OMIM:242150
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Ketonuria, Methylmalonic aciduria, Peripheral demyelination, Renal insufficiency, ...	ORPHA:79282
Acrogeria	Skin ulcer, Excessive wrinkled skin, Thin skin	ORPHA:2500
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Secondary Non-Traumatic Avascular Necrosis	Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus	ORPHA:399180
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomy...	ORPHA:565612
Cryptococcosis	Pneumonia, Sepsis, Systemic lupus erythematosus, Osteomyelitis, Autoimmunity, Abnormal cranial ne...	ORPHA:1546
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level	ORPHA:90368
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena...	OMIM:146255
Medullary Thyroid Carcinoma	Pheochromocytoma, Neoplasm of the skeletal system, Medullary thyroid carcinoma, Weight loss, Abno...	ORPHA:1332
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Folliculitis, Keratitis, Blepharitis, Sparse eyelashes, Ectropion, Conjunctivitis...	OMIM:308800
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Peripheral hyp...	OMIM:605285
Overlap Myositis	Rheumatoid arthritis, Abnormal circulating lipid concentration, Systemic lupus erythematosus, Abn...	ORPHA:206572
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno...	OMIM:610333
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Gastroesophageal reflux, Abnormality of the spleen, Abnormalit...	ORPHA:1834
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron...	OMIM:191800
Antisynthetase Syndrome	Aortic regurgitation, Xerostomia, Autoimmunity, Skin rash, Myositis, Keratoconjunctivitis sicca, ...	ORPHA:81
Senior-Loken Syndrome 1	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati...	OMIM:266900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Pendred Syndrome	Nephropathy, Hyperparathyroidism, Goiter, Thyroid carcinoma, Hypothyroidism	ORPHA:705
Thyroid Dyshormonogenesis 3	Thyroid carcinoma, Increased T3/T4 ratio, Compensated hypothyroidism, Goiter	OMIM:274700
Ebola Hemorrhagic Fever	Sepsis, Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopeni...	ORPHA:319218
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Vomiting, Abnormal bleeding, Hypersegmentation of neutrophil nuclei, Pancyto...	ORPHA:35858
Smith-Kingsmore Syndrome	Long philtrum, Decreased circulating IgA level, Open mouth, Cryptorchidism, Thin upper lip vermil...	OMIM:616638
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Elevated...	ORPHA:368
Bullous Pemphigoid	Eczematoid dermatitis, Anti-BP180 antibody positivity, Autoimmunity, Psoriasiform dermatitis, Ant...	ORPHA:703
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly...	ORPHA:79456
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Abnormality of the dentition, Cardiomyopathy, Increased circ...	OMIM:613752
Meige Disease	Facial edema, Predominantly lower limb lymphedema, Absence of lymph node germinal center, Skin ul...	ORPHA:90186
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Pulmo...	OMIM:617237
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Skin ulcer, Thin skin	ORPHA:743
Cystinosis	Nephropathy, Aminoaciduria, Vomiting, Renal insufficiency, Portal hypertension, Renal tubular dys...	ORPHA:213
Griscelli Syndrome Type 2	Hemophagocytosis, Premature graying of hair, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutrop...	ORPHA:79477
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Diarrhea, Cholestasis, Hepatic steatosis, Polycystic ovaries, Myoglobinuria, Cirrhosis, Hepatomeg...	ORPHA:264580
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Nephronophthisis 9	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts	OMIM:613824
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Gastr...	ORPHA:79329
Glycogen Storage Disease Xii	Normocytic anemia, Increased variability in muscle fiber diameter, Cholelithiasis, Increased circ...	OMIM:611881
Graft Versus Host Disease	Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Hyperbiliru...	ORPHA:39812
Nail-Patella Syndrome	Thickened glomerular basement membrane, Decreased muscle mass, Contracture of the distal interpha...	ORPHA:2614
Thyroid Dyshormonogenesis 2A	Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,...	OMIM:274500
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration, Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Adult-Onset Autosomal Dominant Leukodystrophy	Aspiration pneumonia, Autonomic bladder dysfunction, Distal sensory impairment, Sensorineural hea...	ORPHA:99027
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Optic atrophy, Ketonuria, Lower limb muscle weakness, Microcytic anemia, 3-Methylglutaconic acidu...	OMIM:251900
Pseudohypoparathyroidism Type 1A	Cataract, Band keratopathy, Low urinary cyclic AMP response to PTH administration, Decreased resp...	ORPHA:79443
Recessive Mitochondrial Ataxia Syndrome	Hashimoto thyroiditis, ST segment elevation, Increased serum pyruvate, Dysphagia	ORPHA:94125
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Hypernatremia, Increased circulating IgE level, Multiple muscular ventricular se...	OMIM:615508
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Sparse eyebrow, Folliculitis, Keratitis, Sparse eyelashes, Conjunctivitis, Blepharitis	OMIM:612843
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Peripheral hypomyelination	OMIM:616287
Abetalipoproteinemia	Positive Romberg sign, Acanthocytosis, Hepatic steatosis, Myopathy, Cirrhosis, Ataxia, Hepatomega...	ORPHA:14
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Decreased testicular size, Cryptorchidism, Polycy...	ORPHA:90796
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Premature osteoarthritis,...	ORPHA:93284
Nephronophthisis 1	Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Myopathy With Lactic Acidosis, Hereditary	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Bilateral ptosis, Sidero...	OMIM:255125
Plasminogen Deficiency, Type I	Nephritis, Periodontitis, Nephrolithiasis, Decreased level of plasminogen, Conjunctivitis	OMIM:217090
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Edema, Elevated circulating thyroid-sti...	ORPHA:226316
Popliteal Cyst	Abnormality of the knee, Joint swelling	OMIM:175750
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Neutrophilia, Hepatomegaly, Tachyca...	ORPHA:98849
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Tach...	ORPHA:90037
Retinitis Pigmentosa 59	Micropenis, Renal insufficiency	OMIM:613861
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Decreased circulat...	ORPHA:169105
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Long philtrum, Decreased circulating IgA level, Wide mouth, Open mouth, Cryptorchidism, Intestina...	ORPHA:457485
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Cataract, Anterior lenticonus, Chronic kidney disease, Keratitis, Gastroesophageal r...	ORPHA:1018
Takayasu Arteritis	Arteritis	OMIM:207600
Donnai-Barrow Syndrome	Iris coloboma, Downslanted palpebral fissures, Congenital diaphragmatic hernia, Sensorineural hea...	ORPHA:2143
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Progressive neurologic deterioration, Diarrhea, Vomiting, Glycosuria, Elevated circulating hepati...	ORPHA:263455
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pneumonia, Hypotension, Recurrent otitis media, Abnormal lymphocyte morphology, Psorias...	ORPHA:293978
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Congenital Syphilis	Diarrhea, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, Osteochondrosis, Nephrotic...	ORPHA:499009
Netherton Syndrome	Decreased circulating IgG level, Sepsis, Increased circulating IgE level, Recurrent infection of ...	OMIM:256500
Shwachman-Diamond Syndrome	Recurrent viral infections, Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute ...	ORPHA:811
Dubowitz Syndrome	Decreased circulating IgG level, Gastroesophageal reflux, Aplastic anemia, Eczematoid dermatitis,...	OMIM:223370
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Cholestasis, Decreased circulating T4 concentration, Hepatomegaly, Polycystic kidney dysplasia, T...	OMIM:610199
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Proximal muscle weakness in upper limbs, Increased circulating lac...	ORPHA:99845
Bloom Syndrome	Decreased circulating IgG level, Facial telangiectasia in butterfly midface distribution, Leukemi...	OMIM:210900
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Decreased thyroid-stimulating hormone level, Hypokalemia, Increased circulating free T4 c...	OMIM:613239
Chronic Mucocutaneous Candidiasis	Erythema, Hepatitis, Skin ulcer, Recurrent urinary tract infections, Skin rash, Hematuria, Cheili...	ORPHA:1334
Brooke-Spiegler Syndrome	Abnormal bleeding, Skin ulcer, Abnormality of the submandibular glands, Salivary gland neoplasm, ...	ORPHA:79493
Eosinophilia, Familial	Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Anemia	OMIM:131400
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Cataract, Infection associated neutropenia, Nephrocalcinosis, Elevat...	ORPHA:445038
Diffuse Cutaneous Systemic Sclerosis	Hypertensive crisis, Oliguria, Xerostomia, Gastroesophageal reflux, Carious teeth, Congestive hea...	ORPHA:220393
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph...	ORPHA:2686
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Hepatic failure, Cardiomyopathy, Stage 5 chronic kidney disease, Myopathy, Rhabd...	ORPHA:157
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormality of the outer ear, Multiple bladder diverticula, Hearing impairment, Recurrent otitis ...	ORPHA:2728
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary adenoma, Increased circulating cortisol level, Increased circu...	ORPHA:97289
Cortisone Reductase Deficiency 1	Alopecia, Obesity, Hirsutism	OMIM:604931
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Recurrent aphthous stomatitis, Herpes simplex encephalitis	OMIM:614850
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of complement system, Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart ...	ORPHA:2348
Essential Thrombocythemia	Acute leukemia, Abnormal cerebral vascular morphology, Transient ischemic attack, Leukocytosis, S...	ORPHA:3318
Temporal Arteritis	Retinal arteritis	OMIM:187360
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Protein-losin...	ORPHA:79319
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransferase concen...	OMIM:257200
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Malakoplakia	Diarrhea, Inflammatory abnormality of the skin, Abnormal bleeding, Urinary bladder inflammation, ...	ORPHA:556
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Systemic lupus erythematosus, Increased total bilirubin, Autoimmunity, Pa...	ORPHA:90036
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Abnormal bleeding, B...	ORPHA:101096
Severe Oculo-Renal-Cerebellar Syndrome	Cataract, Optic atrophy, Hypopigmented skin patches, Large earlobe, Renal insufficiency, Abnormal...	ORPHA:2715
Incontinentia Pigmenti	Keratitis, Skin rash, Infectious encephalitis, Eosinophilia, Uveitis	ORPHA:464
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Erythema, Smooth tongue, Recurrent skin infections, Oral mucosal blisters, Ename...	ORPHA:79396
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:214
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level	OMIM:614328
Malaria	Acute kidney injury	ORPHA:673
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Tenorio Syndrome	Recurrent pneumonia, Gastroesophageal reflux, Recurrent aphthous stomatitis, Telecanthus, Thick e...	OMIM:616260
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism	OMIM:228355
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Urinary incontinence, Osteomyelitis, Acral ulceration	OMIM:613115
Neuroblastoma	Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Abnormal bleeding, ...	ORPHA:635
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Nodular Non-Suppurative Panniculitis	Autoimmunity, Splenomegaly, Hepatomegaly, Inflammatory abnormality of the eye, Panniculitis	ORPHA:33577
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Hepatomegaly, Tubuloint...	OMIM:203800
Molybdenum Cofactor Deficiency, Type B	Decreased urinary urate, Increased urinary taurine, Peripheral demyelination, Increased urinary h...	OMIM:252160
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Myasthenia, Limb-Girdle, Autoimmune	Hashimoto thyroiditis, Thymoma, Mildly elevated creatine kinase, Systemic lupus erythematosus	OMIM:159400
Kindler Epidermolysis Bullosa	Cheilitis, Inflammation of the large intestine, Periodontitis, Camptodactyly of finger, Esophagit...	ORPHA:2908
Glutaric Acidemia I	Glutaric aciduria, Ketonuria, Symmetrical progressive peripheral demyelination, Hepatomegaly, Del...	OMIM:231670
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal hypoplasia, Renal insufficiency	OMIM:615996
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Facial palsy, Onion bulb formation	OMIM:607684
Bronchiolitis Obliterans	Pneumonia, Autoimmunity, Bronchiectasis	ORPHA:1303
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Leukopenia, Stage 5 chronic kidney disease, Hyperglycinemia, Hyperammonem...	OMIM:251000
Martin-Probst Syndrome	Low-set ears, Telecanthus, Pancytopenia, Renal insufficiency, Sensorineural hearing impairment, P...	OMIM:300519
Popliteal Pterygium Syndrome	Small scrotum, Intercrural pterygium, Popliteal pterygium, Bifid scrotum, Cryptorchidism, Hypopla...	OMIM:119500
Dural Sinus Malformation	Mental deterioration, Somatic sensory dysfunction, Abnormal facial vein morphology, Subdural hemo...	ORPHA:97339
Smith-Lemli-Opitz Syndrome	Recurrent otitis media, Cryptorchidism, Hepatic steatosis, Ventricular septal defect, Cirrhosis, ...	OMIM:270400
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Maffucci Syndrome	Pituitary adenoma, Goiter, Neoplasm of the parathyroid gland, Parathyroid adenoma, Ovarian neopla...	ORPHA:163634
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Increased circulating IgE level, Cryptorchidi...	ORPHA:373
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Osteosarcoma	Joint swelling	ORPHA:668
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa...	OMIM:602782
Abetalipoproteinemia	Peripheral demyelination, Acanthocytosis, CNS demyelination	OMIM:200100
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Unusual skin infection, Granuloma, Intrarenal abscess,...	ORPHA:68
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Genu valgum, Hematuria, Hypophosphatemia, Hepatome...	OMIM:219800
Calciphylaxis	Stage 5 chronic kidney disease, Skin ulcer	ORPHA:280062
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure...	OMIM:300539
Bangstad Syndrome	Pancytopenia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter	OMIM:210740
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Lymphedema, Portal hypertension, Splenomegaly, Hyperlipidemia, Abnor...	ORPHA:1414
Nasolacrimal Duct Cyst	Red eye, Chronic irritative conjunctivitis, Dacryocystocele, Corneal astigmatism, Narrow palpebra...	ORPHA:141083
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Mental deterioration, Abnormal nasolacrimal system morphology, Scleritis, Absent eyebrow, Abnorma...	ORPHA:2273
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Palpitations, Hypokalemia, Hyperthyroidism, Tachycardia	OMIM:188580
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Colitis, Leukopenia, Decreased circulating antibody level	OMIM:615190
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:620040
Fucosidosis	Low-set ears, Mental deterioration, Macroglossia, Oligosacchariduria, Hearing impairment, Cherry ...	OMIM:230000
Abcd Syndrome	Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Aganglionic megacolon, Tot...	OMIM:600501
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat...	OMIM:208085
De Sanctis-Cacchione Syndrome	Optic atrophy, Mental deterioration, Keratitis, Sensorineural hearing impairment, Telangiectasia,...	OMIM:278800
Charcot-Marie-Tooth Disease, Type 4J	Axonal loss, Onion bulb formation, Peripheral hypomyelination	OMIM:611228
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepa...	OMIM:601847
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency	ORPHA:28
Vernal Keratoconjunctivitis	Red eye, Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovasculariza...	ORPHA:70476
Cockayne Syndrome A	Hip contracture, Sensorineural hearing impairment, Arrhythmia, Ataxia, Hepatomegaly, Abnormal pin...	OMIM:216400
Reactive Arthritis	Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infe...	ORPHA:29207
Jeune Syndrome	Nephropathy, Nephronophthisis, Renal insufficiency	ORPHA:474
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Cataract, Aortic valve stenosis, High-frequency hearing impairment, Vomiting, ...	OMIM:176690
Holoprosencephaly	Abnormality of the spleen, Abnormal antihelix morphology, Congenital diaphragmatic hernia, Ventri...	ORPHA:2162
Prolidase Deficiency	Erythema, Palmoplantar keratoderma, Skin ulcer, Dry skin, Recurrent cystitis, Crusting erythemato...	ORPHA:742
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Anti-centromere antibody positivity, Palmar telan...	OMIM:613471
Pleural Mesothelioma	Obstruction of the superior vena cava, Abnormal cardiovascular system physiology, Pleural effusio...	ORPHA:50251
Blau Syndrome	Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Skin ulcer, Camptodactyly of finger, Jo...	OMIM:186580
Laurence-Moon Syndrome	Hypoplasia of penis, Renal insufficiency, Displacement of the urethral meatus	ORPHA:2377
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Abnormal large intestine morphology, Arteriovenous malformation, Long philtrum, Ly...	ORPHA:109
Hellp Syndrome	Acute kidney injury, Vomiting, Hypotension, Increased circulating lactate dehydrogenase concentra...	ORPHA:244242
Clouston Syndrome	Cataract, Sparse eyebrow, Sparse eyelashes, Hyperpigmentation of the skin, Conjunctivitis, Blepha...	OMIM:129500
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Type I diabetes mellitus, Carpal osteolysis, Pterygium, Sclerotic cranial...	ORPHA:371428
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Microcornea, Cataract, Intestinal obstruction, Protruding ear, T...	OMIM:601675
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Xerostomia, Eczematoid dermati...	ORPHA:238468
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency	OMIM:611773
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Hepatic failure, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Hep...	ORPHA:228308
Ohdo Syndrome	Sparse eyebrow, Hearing impairment, Stenosis of the external auditory canal, Proteinuria, Epicant...	OMIM:249620
Harderoporphyria	Neonatal hyperbilirubinemia, Vomiting, Increased circulating ferritin concentration, Increased ur...	OMIM:618892
Cornelia De Lange Syndrome 1	Low-set ears, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Ventricular sept...	OMIM:122470
Thyroid Cancer, Nonmedullary, 1	Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter	OMIM:188550
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Diarrhea, Vomiting, Anuria, Microangiopathic hemolytic anemia, Bloody diarrh...	ORPHA:90038
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin...	ORPHA:91347
Alg6-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Macroglossia, Puberty and gonadal disorders, Abnorma...	ORPHA:79320
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Myotonic Dystrophy 2	Decreased circulating IgG level, Hypogonadism, Palpitations, Type II diabetes mellitus, Elevated ...	OMIM:602668
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hirsutism, Hepatomegaly	OMIM:612526
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Hearing impairment, Downslanted palpebral fissures, Renal insufficiency, Abnormal aortic valve mo...	ORPHA:86818
Lacrimal Duct Defect	Lacrimal duct atresia, Dacryocystocele, Sinusitis, Conjunctivitis, Dacryocystitis	OMIM:149700
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Skin rash, Abnormality of visual evoked p...	OMIM:617523
Paroxysmal Cold Hemoglobinuria	Hemoglobinuria, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Abnormal urinary c...	ORPHA:90035
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Moderate albuminuria, Periodontitis, Sensorineural hearing impairment	OMIM:619269
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl...	ORPHA:210136
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Juvenile Hyaline Fibromatosis	Skin ulcer	ORPHA:2028
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Ectropion, Conjunctivitis, Dysphagia	ORPHA:411777
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Short palpebral fissure, Hearing impairment, Abnormality ...	ORPHA:3339
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Cleft upper lip, Coronary artery fistula, Tented upper lip vermilion, Cryptorchidism...	OMIM:614294
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm...	OMIM:602347
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly, Anhidrosis	OMIM:614979
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran...	OMIM:314050
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Irregular hyperpigmentation, Abnormality of the urethra, Eczematoid dermatitis...	ORPHA:2907
Limited Cutaneous Systemic Sclerosis	Joint contracture of the hand, Gastroesophageal reflux, Skin ulcer, Autoimmunity, Pulmonary arter...	ORPHA:220402
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Decreased number of large peripheral mye...	ORPHA:298
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Congenital hip dislocation, Renal malrotation, Abnormal renal collecti...	OMIM:113650
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis	OMIM:619183
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,...	OMIM:618131
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Encephalitis Lethargica	Autoimmunity, Increased circulating antibody level, Bradycardia, Urinary incontinence, Bowel inco...	ORPHA:83600
Arima Syndrome	Hepatic fibrosis, Optic atrophy, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steato...	OMIM:243910
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Diarrhea, Vomiting, Skeletal muscle atrophy, Elevated circulating hepatic trans...	ORPHA:79240
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Ollier Disease	Anemia, Lymphangioma, Skin ulcer, Precocious puberty	ORPHA:296
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Red-brown urine, Hepatic failure, Elevated circulating hepatic transamin...	ORPHA:228305
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Cholestasis, Dark urine...	OMIM:619534
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Papillary thyroid carcinoma, Goiter	OMIM:616534
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Sensory axonal neuropathy, Elevated circulating aspartate aminotransferase concent...	OMIM:271245
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia	ORPHA:99879
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Renal angiomyolipoma, Hypothyroidi...	OMIM:610755
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Diarrhea, Bloody diarrhea, Protracted diarrhea, Congestive heart failure, Abnorm...	ORPHA:67
Oculoskeletodental Syndrome	Protein-losing enteropathy, Renal agenesis, Elbow flexion contracture, Splenomegaly, Hypocalcemia...	OMIM:618440
Ciliary Dyskinesia, Primary, 29	Decreased circulating antibody level, Bronchiectasis	OMIM:615872
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Corneal scarring, Constipation, Anemia, Conjunctivitis, Flexion contracture, Dysphagia	OMIM:226600
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Optic atrophy, Moderate albuminuria, Elevated circulating hepatic transaminase concentration, EEG...	OMIM:614231
Lambert Syndrome	Cholestasis, Ventricular septal defect, Intrahepatic biliary atresia, Jaundice, Decreased circula...	ORPHA:1296
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Congenital Disorder Of Glycosylation, Type Ij	Jaundice, Hypoproteinemia, Cryptorchidism	OMIM:608093
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Familial Mediterranean Fever	Nephrotic syndrome, Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Leukocytosis, ...	OMIM:249100
Becker Muscular Dystrophy	Myoglobinuria, Abnormal urinary color, Elevated circulating creatine kinase concentration	ORPHA:98895
Blepharochalasis And Double Lip	Blepharochalasis, Duplication of the upper lip, Goiter	OMIM:109900
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Hemochromatosis, Type 1	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:235200
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen...	OMIM:601455
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect...	OMIM:248190
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia	OMIM:266265
Fumarase Deficiency	Aminoaciduria, Intrahepatic cholestasis, Elevated urine fumaric acid level, Conjunctival icterus,...	OMIM:606812
Car T Cell Therapy-Associated Cytokine Release Syndrome	Diarrhea, Hyperbilirubinemia, Pulmonary edema, Arrhythmia, Tachycardia, Heart block, Abnormal cir...	ORPHA:542323
Pseudohypoparathyroidism Type 1C	Cataract, Low urinary cyclic AMP response to PTH administration, Decreased response to growth hor...	ORPHA:79444
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Hepatomegaly	OMIM:231000
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Hyperkeratosis, Skin ulcer, Penetrating foot ulcers	ORPHA:36386
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers	OMIM:607080
Scedosporiosis	Pneumonia, Unusual CNS infection, Unusual skin infection, Invasive fungal infection, Sepsis, Sept...	ORPHA:449280
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Say-Barber-Miller Syndrome	Tooth malposition, Carious teeth, Cryptorchidism, Impaired neutrophil chemotaxis, Erythema nodosu...	ORPHA:3132
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr...	OMIM:137920
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the...	ORPHA:2970
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Scleromyxedema	Abnormal pulmonary artery morphology, Gastroesophageal reflux, Abnormal coronary artery morpholog...	ORPHA:167635
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia, Vascular dilatation, Giant hypertrophic gastritis	OMIM:137280
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Hypothyroidism Due To Tsh Receptor Mutations	Macroglossia, Neonatal hyperbilirubinemia, Edema, Elevated circulating thyroid-stimulating hormon...	ORPHA:90673
Charcot-Marie-Tooth Disease, Type 4B3	Urinary incontinence, Onion bulb formation, Myelin outfoldings	OMIM:615284
Senior-Loken Syndrome 8	Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas...	OMIM:616307
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hydroxyprolinuria, Prolin...	ORPHA:79101
Analbuminemia	Hypoalbuminemia, Hypotension, Elevated circulating transferrin concentration, Oligohydramnios, In...	OMIM:616000
Chromosome 16P13.3 Deletion Syndrome, Proximal	Facial hypertrichosis, Failure to thrive, Polysplenia, Obesity, Abnormality of the hairline, Faci...	OMIM:610543
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
X-Linked Sideroblastic Anemia	Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:75563
Malignant Atrophic Papulosis	Constrictive pericarditis, Gastrointestinal hemorrhage, Stroke, Abnormal conjunctiva morphology	OMIM:602248
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Renal hypoplasia/aplasia	ORPHA:2123
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Ddost-Cdg	Nephrotic range proteinuria, Dry skin	ORPHA:300536
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina	ORPHA:3109
Hypomagnesemia 2, Renal	Hypocalciuria, Renal insufficiency, Renal magnesium wasting	OMIM:154020
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Pancreatitis, Renal insufficiency, Renal tubular dysfunction	ORPHA:289916
Lacrimoauriculodentodigital Syndrome 2	Cupped ear, Lacrimal duct aplasia, Hearing impairment, Lacrimal duct atresia, Absent lacrimal pun...	OMIM:620192
Charcot-Marie-Tooth Disease Type 2B1	Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor ax...	ORPHA:98856
Hyperuricemic Nephropathy, Familial Juvenile, 3	Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating ability	OMIM:614227
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Proteinuria, Hematuria	ORPHA:1765
Trichothiodystrophy 5, Nonphotosensitive	Chronic decreased circulating IgG1, Widely spaced primary teeth, Panhypopituitarism, Decreased te...	OMIM:300953
Renal Nutcracker Syndrome	Dilatation of mesenteric artery, Renal artery stenosis, Hematuria, Proteinuria, Vulval varicose v...	ORPHA:71273
Enterokinase Deficiency	Hypoproteinemic edema, Diarrhea, Hypoproteinemia	OMIM:226200
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Diarrhea, Vomiting, Low-molecular-weight p...	ORPHA:18
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Generalized hirsutism, Splenomegaly	ORPHA:93476
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Acute Adrenal Insufficiency	Diarrhea, Dry skin, Renal salt wasting, Hyperkalemia, Androgen insufficiency, Primary adrenal ins...	ORPHA:95409
Pheochromocytoma--Islet Cell Tumor Syndrome	Axillary freckling, Elevated urinary norepinephrine level, Congestive heart failure, Positive reg...	OMIM:171420
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Recurrent gram-neg...	OMIM:116920
Crouzon Syndrome	Optic atrophy, Keratitis, Atresia of the external auditory canal, Conductive hearing impairment, ...	OMIM:123500
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Hughes-Stovin Syndrome	Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Arterial stenosis, Pulmonary arterial ...	ORPHA:228116
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Increased circulating interferon-gamma concentration, Moyam...	ORPHA:51
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Pneumocystosis	Abnormal neutrophil count, Pneumocystis jirovecii pneumonia, Chronic oral candidiasis, Increased ...	ORPHA:723
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Polyarteritis Nodosa	Erythema, Skin ulcer, Abnormality of the kidney, Pericarditis	ORPHA:767
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Hypospadias, Renal insufficiency, Nephroblastoma	OMIM:194072
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Cardiomyopathy, Bilateral ptosis, Myopathy, Sensorineural hearing impairment, Abse...	ORPHA:1215
Diarrhea 13	Hypoalbuminemia, Vomiting, Secretory diarrhea, Hepatic steatosis	OMIM:620357
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage...	OMIM:276700
Alkaptonuria	Aortic valve calcification, Elevated urinary homogentisic acid, Decreased glomerular filtration r...	OMIM:203500
Donnai-Barrow Syndrome	Low-set ears, Cataract, Hearing impairment, Hypoplasia of the iris, Downslanted palpebral fissure...	OMIM:222448
Lichen Planus Pemphigoides	Conjunctivitis, Hypopigmented streaks, Blepharitis	ORPHA:254478
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Low posterior hairline, Obesity, Abnormal hair quantity, Abnormal testis morphology	ORPHA:2233
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Jejunoileal ulceration, Small bowel diverticula, Tachycardia, Fat malabsorption, Hypoproteinemia	OMIM:221400
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Vomiting, Long philtrum, Renal insufficiency, Narrow mouth, Hypothyroidism, Hyperalaninemia, Hypo...	OMIM:619147
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers	OMIM:615376
Acute Liver Failure	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatic ...	ORPHA:90062
Lichen Planopilaris	Skin ulcer, Hyperkeratosis, Hepatitis	ORPHA:525
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites, Intestinal obstruction, Constipation, Lymphadenopat...	ORPHA:26790
Klatskin Tumor	Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Juvenile Polyposis Syndrome	Abnormal onset of bleeding, Diarrhea, Arteriovenous malformation, Colon cancer, Stomach cancer, N...	ORPHA:2929
Sapho Syndrome	Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras...	ORPHA:793
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Eczematoid dermatitis, Congestive heart failure, Tricuspid regurgita...	ORPHA:508542
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Gastroesophageal reflux, Dilated cardi...	ORPHA:89842
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Thymoma, Band keratopathy, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancr...	OMIM:269200
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Telecanthus, Camptodactyly of finger	ORPHA:2774
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate producti...	OMIM:612714
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter	OMIM:617175
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Glycogen Storage Disease Ixd	Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes...	OMIM:300559
Deafness, Autosomal Dominant 9	Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual...	OMIM:601369
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Abnormal bleeding, Bruising susceptibility, Pancreatic cysts, Hep...	ORPHA:464329
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Mental deterioration, Neuromuscular d...	ORPHA:206443
Lacrimoauriculodentodigital Syndrome	Low-set ears, Xerostomia, Sensorineural hearing impairment, Keratoconjunctivitis, Abnormal lacrim...	ORPHA:2363
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Diarrhea, Increased circulating cortisol level, Abnormal lymph node morphology, Increased u...	ORPHA:99889
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Elevated circulating hepatic transaminase concentration, Ketonuria, Oral-pharyngea...	OMIM:616878
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Abnormal bleeding, Reticulocytosis,...	OMIM:210250
Cockayne Syndrome B	Sensorineural hearing impairment, Arrhythmia, Ataxia, Hepatomegaly, Abnormal pinna morphology, Mi...	OMIM:133540
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria, Highly elevated creatine kinase	ORPHA:352479
Alström Syndrome	Chronic kidney disease, Elevated gamma-glutamyltransferase level, Decreased circulating T4 concen...	ORPHA:64
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P...	OMIM:300835
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly	OMIM:618107
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep...	ORPHA:488627
Williams Syndrome	Synostosis of joints, Carious teeth, Dental malocclusion, Open bite, Genu valgum, Type II diabete...	ORPHA:904
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ...	OMIM:218700
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity	OMIM:618406
Cysticercosis	Increased anti-parasite IgE antibody level, Iridocyclitis, Increased circulating antibody level, ...	ORPHA:1560
Congenital Lethal Erythroderma	Hypoalbuminemia, Dry skin, Congenital exfoliative erythroderma	ORPHA:1954
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Peripheral edema, Pleural effu...	ORPHA:79126
Dermatitis Herpetiformis	Dental enamel pits, Erythema, Eczematoid dermatitis, Delayed eruption of teeth, Microcytic anemia...	ORPHA:1656
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter	OMIM:600791
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Protein-losing enteropathy, Vomiting, Diarrhea, Villous atrophy, Hyperlipidemia,...	OMIM:615863
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h...	OMIM:615234
Parkes Weber Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Abnormality of the urinary system,...	ORPHA:90307
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra...	OMIM:607765
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Parathyroid hypoplasia, Abnormal heart morphology, Psoriasiform dermat...	ORPHA:2237
Galloway-Mowat Syndrome	Nephropathy, Hypoplasia of the ear cartilage, Camptodactyly of finger, Proteinuria, EEG abnormali...	ORPHA:2065
Erythermalgia, Primary	Diarrhea, Xerostomia, Palpitations, Keratoconjunctivitis sicca, Constipation, Hyperhidrosis, Abno...	OMIM:133020
Thrombocytopenia-Absent Radius Syndrome	Dilatation of the renal pelvis, Carpal synostosis, Hepatosplenomegaly, Patellar aplasia, Ventricu...	OMIM:274000
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas...	OMIM:620138
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra...	ORPHA:293987
Cirrhotic Cardiomyopathy	Conjunctival icterus, Abnormal bleeding, Congestive heart failure, Fourth heart sound, Ventricula...	ORPHA:57777
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter...	ORPHA:85410
Hajdu-Cheney Syndrome	Aortic valve stenosis, Periodontitis, Open bite, Dry skin, Narrow mouth, Ventricular septal defec...	ORPHA:955
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Mitochondrial Trifunctional Protein Deficiency 2	Hyperammonemia, Elevated circulating creatine kinase concentration, Myoglobinuria, Increased circ...	OMIM:620300
Recon Progeroid Syndrome	Red eye, Skeletal muscle atrophy, Attached earlobe, Keratoconjunctivitis sicca, Thrombocytopenia,...	OMIM:620370
Fetal Cytomegalovirus Syndrome	Optic atrophy, Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, ...	ORPHA:294
Kaposi Sarcoma	Diarrhea, Lymphedema, Abnormality of the spleen, Abnormality of the liver, Skin rash, Venous insu...	ORPHA:33276
Rhabdomyosarcoma, Embryonal, 2	Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Thyroid nodule	OMIM:180295
Infant Botulism	Mydriasis, Hypotension, Xerostomia, Hypertension, Ptosis, Keratoconjunctivitis sicca, Constipatio...	ORPHA:178478
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Hearing impairment, Cholestasis, Microvesi...	OMIM:619377
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hypospadias, Elevated circulating hepatic transaminase concentration, Neurofibroma, Leukodystroph...	OMIM:619475
Pparg-Related Familial Partial Lipodystrophy	Prominent veins on trunk, Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart failure,...	ORPHA:79083
Alexander Disease	Facial palsy, Infectious encephalitis	ORPHA:58
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Oligosacchariduria, Furrowed tongue, Lymphadenopathy, Perio...	ORPHA:2483
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Recurrent upper respiratory tract infections, Splenomegaly	OMIM:620296
Xeroderma Pigmentosum, Variant Type	Keratitis, Cutaneous telangiectasia, Freckles in sun-exposed areas, Entropion, Ectropion, Conjunc...	OMIM:278750
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Trisomy 10P	Low-set ears, Short palpebral fissure, Abnormal auditory evoked potentials, Gastroesophageal refl...	ORPHA:171929
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Hepatic failure, Abnormality of Krebs cycle metabolism, Multiple glomerular cysts,...	ORPHA:255210
Squamous Cell Carcinoma Of The Anal Canal	Intestinal bleeding, Anal stenosis, Skin ulcer, Neoplasm of the rectum, Neoplasm of the liver, An...	ORPHA:424019
Alopecia Totalis	Inflammation of the large intestine, Autoimmunity	ORPHA:700
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Elevated urinar...	OMIM:171400
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu...	OMIM:602522
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells	ORPHA:75233
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Transverse vaginal septum, Vagina...	ORPHA:65681
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Precocious puberty, Hypotension, Increased circulating prolactin concentration, Decreased respons...	ORPHA:91354
Spastic Paraplegia 11, Autosomal Recessive	Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary urgency, Decreased number of...	OMIM:604360
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Annular pancreas, Eczematoid dermatitis, Bruising susceptibility, Knee flexion...	OMIM:618162
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Acquired Purpura Fulminans	Macular purpura, Shock, Skin rash, Pyoderma gangrenosum, Internal hemorrhage, Thrombocytopenia, P...	ORPHA:49566
Erythrocytosis, Familial, 1	Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob...	OMIM:133100
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Chromomycosis	Keratitis, Hypopigmented skin patches, Eyelid retraction, Keratoconjunctivitis sicca, Lymphangiec...	ORPHA:182
Proteus-Like Syndrome	Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Splenomegaly, Poly...	ORPHA:2969
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia	OMIM:617661
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Abnormality of the ankle, Microglossia, Abnormality of the wrist, Renal insuffi...	ORPHA:1307
Helix Syndrome	Hypocalciuria, Dry skin, Renal insufficiency, Nephrolithiasis, Polyuria	OMIM:617671
Infantile Krabbe Disease	Hyperesthesia, Optic atrophy, Delayed brainstem auditory evoked response conduction time, Gastroe...	ORPHA:206436
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:119
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency	ORPHA:3222
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Xeroderma Pigmentosum, Complementation Group C	Hypopigmentation of the skin, Keratitis, Telangiectasia, Entropion, Freckling, Ectropion, Conjunc...	OMIM:278720
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Low-set ears, Cholelithiasis, Severe B lymphocytopenia, Eczematoid dermatitis, Pancreatic hypopla...	ORPHA:83617
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Chronic kidney disease, Renal tubular acidosis, 3-Methylglutaconic aciduria	ORPHA:324525
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Lymphedema-Distichiasis Syndrome	Tetralogy of Fallot, Ventricular septal defect, Recurrent corneal erosions, Distichiasis, Ptosis,...	OMIM:153400
Werner Syndrome	Chondrocalcinosis, Abnormal cerebral vascular morphology, Skin ulcer, Congestive heart failure, A...	ORPHA:902
Trisomy X	Precocious puberty, Multicystic kidney dysplasia, Autoimmunity, Renal hypoplasia/aplasia, Ventric...	ORPHA:3375
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pain insensitivity, Cataract, Decreased response to growth hormone stimulation test, Thick eyebro...	OMIM:616007
Cerebrotendinous Xanthomatosis	Tendon xanthomatosis, Abnormal motor evoked potentials, Abnormal retinal vascular morphology, Cog...	ORPHA:909
Atopic Keratoconjunctivitis	Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Loss of eyelash...	ORPHA:163934
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Vascular calcification, Hyperparathyroidism, Nephrocalcinosis, Elevated circulating alkaline phos...	OMIM:211900
Plague	Inflammation of the large intestine, Diarrhea, Lymphadenitis, Dry skin, Ileitis, Arrhythmia, Acut...	ORPHA:707
Primary Ciliary Dyskinesia	Recurrent mycobacterial infections, Bronchiectasis, Polysplenia, Recurrent otitis media, Chronic ...	ORPHA:244
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Delayed eruption of teeth, Congesti...	OMIM:309900
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis	OMIM:204690
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Diarrhea, Vomiting, Hemophagocytosis, Intraalveolar phospholipid a...	OMIM:222700
Ileal Neuroendocrine Tumor	Increased serum serotonin, Hypotension, Cardiogenic shock, Right ventricular failure, Arterial oc...	ORPHA:100078
Mhc Class I Deficiency 1	Bronchiectasis, Skin ulcer, Chronic otitis media, Chronic sinusitis	OMIM:604571
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Chronic diarrhea, Pustule, Abnormal eyelid morphology, Conjunctiviti...	ORPHA:37
Warburg-Cinotti Syndrome	Ankle flexion contracture, Erythema, Dental crowding, Elbow flexion contracture, Gingival overgro...	OMIM:618175
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Autoimmune Disease, Susceptibility To, 1	Hashimoto thyroiditis	OMIM:607836
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bifid uvula, Camptodactyly of finger, Atrioventricular canal defect, Cryptorchidism, Submucous cl...	ORPHA:3047
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency	OMIM:173900
Superficial Epidermolytic Ichthyosis	Erythema, Acantholysis, Palmoplantar keratoderma, Thin skin	ORPHA:455
Hereditary Folate Malabsorption	Diarrhea, Gastroesophageal reflux, Recurrent urinary tract infections, Pancytopenia, Decreased ci...	ORPHA:90045
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie...	OMIM:192430
Treacher-Collins Syndrome	Abnormality of the dentition, Cleft upper lip, Tooth agenesis, Open bite, Abnormal dental enamel ...	ORPHA:861
Auriculocondylar Syndrome 2B	Darwin tubercle of helix, Long penis, Question mark ear, Telecanthus, Chronic constipation, Limba...	OMIM:620458
Rat-Bite Fever	Sepsis, Lymphadenitis, Septic arthritis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocar...	ORPHA:31205
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Open bite, Dry skin, High palate, Tarsal synostosis, Chronic otitis...	ORPHA:2750
Resistance To Thyrotropin-Releasing Hormone Syndrome	Increased circulating prolactin concentration, Decreased circulating T4 concentration, Dry skin, ...	ORPHA:99832
Neovascular Glaucoma	Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Retinal vascula...	ORPHA:94058
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body weight, Anemia, Increased body mass index	OMIM:614450
Type 1 Diabetes Mellitus	Autoimmunity	OMIM:222100
Wagro Syndrome	Low-set ears, Cataract, Downslanted palpebral fissures, Aniridia, Nephroblastoma, Proteinuria, Pt...	OMIM:612469
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Aymé-Gripp Syndrome	Low-set ears, Cataract, Downslanted palpebral fissures, Megalocornea, Bilateral ptosis, Long eyel...	ORPHA:1272
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concent...	OMIM:609015
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Hyperalaninemia, Prolo...	OMIM:618329
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypochromic anemia, Elevated circulating parathyroid hormone level, De...	ORPHA:289157
Xfe Progeroid Syndrome	Hypoalbuminemia, Ascites, Dry skin, Renal insufficiency, Proteinuria, Enamel hypoplasia, Hyperten...	OMIM:610965
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d...	OMIM:153670
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Abnormal uterine cervix morphology, Hydrocolpos, Partial vaginal septum, Uterus didelphys	ORPHA:3411
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Dermatopathia Pigmentosa Reticularis	Hypohidrosis, Reticular hyperpigmentation, Abnormal conjunctiva morphology	OMIM:125595
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated colle...	OMIM:604292
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Nephronophthisis, Cholestasis, Genu valgum, Splenomegal...	OMIM:615630
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr...	OMIM:613090
Erythroderma, Lethal Congenital	Hypoalbuminemia, Congenital exfoliative erythroderma	OMIM:227090
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Cleft so...	OMIM:301068
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Impaired T cell function, Oroticaciduria, Anisocytosis,...	OMIM:258900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Conjugated hyper...	OMIM:208500
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Multiple...	OMIM:613095
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Abnormality of the dentition, Cardiomyopathy, Abnormal circu...	ORPHA:88618
Mucopolysaccharidosis Type 1	Joint dislocation, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve mo...	ORPHA:579
Pheochromocytoma	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171300
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Telangiectasia, Entropion, Ectropion, Conjunctivitis	OMIM:278740
Hypothyroidism, Central, With Testicular Enlargement	Overweight, Reduced circulating prolactin concentration	OMIM:300888
Autosomal Recessive Multiple Pterygium Syndrome	Low-set ears, Hearing impairment, Epicanthus, Cognitive impairment, Popliteal pterygium, Downslan...	ORPHA:2990
Systemic Capillary Leak Syndrome	Oliguria, Renal insufficiency, Abnormal renal tubule morphology, Pancreatitis, Myocarditis, Peric...	ORPHA:188
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Tricuspid regurgitation, Portal hypertension, Splenomegaly	OMIM:616589
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi...	OMIM:211600
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi...	ORPHA:131
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Secundum atrial septal defect, Congestive heart failure, Narrow mouth, S...	OMIM:608779
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Axonal regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607831
Lacrimoauriculodentodigital Syndrome 1	Xerostomia, Hearing impairment, Lacrimal gland hypoplasia, Small thenar eminence, Dacryocystitis,...	OMIM:149730
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Aredyld Syndrome	Sparse body hair, Splenomegaly, Cachexia, Aplasia/Hypoplasia of the eyebrow, Hepatomegaly, Refrac...	ORPHA:1133
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated colle...	OMIM:129900
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Oxoglutaric Aciduria	Abnormal urine alpha-ketoglutarate concentration, Abnormal salivary gland morphology	ORPHA:31
Acute Radiation Syndrome	Hypotension, Inflammatory abnormality of the skin, Vomiting, Diarrhea, Abnormal bleeding, Skin ul...	ORPHA:454831
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Cholestasis, Obesity, Decreased growth hor...	OMIM:609734
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Neutropenia	OMIM:617827
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Keratitis, Elbow flexion contracture, Corneal scarring, Knee flexion ...	OMIM:148210
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Flotch Syndrome	Sparse eyelashes, Nephrolithiasis, Abnormal eyelid morphology, Inflammatory abnormality of the ey...	ORPHA:2045
Pancreatic insufficiency, combined exocrine	Anasarca, Congestive heart failure, Exocrine pancreatic insufficiency, Anal atresia, Hypoproteinemia	OMIM:260450
Infantile Systemic Hyalinosis	Aplasia/Hypoplasia of the thymus, Skin ulcer, Camptodactyly of finger, Lymphedema, Abnormal denta...	ORPHA:2176
Gray Platelet Syndrome	Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal number of alpha granules, Impaire...	OMIM:139090
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Hematochezia, Protein-losing enteropathy, Diarrhea, Dehydration, Abnormal circul...	ORPHA:103910
Renal Hypodysplasia/Aplasia 1	Proteinuria, Bilateral renal agenesis, Renal dysplasia	OMIM:191830
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Carious teeth, Natal tooth, Ankyloglossia, Aplasia of the thymus, Atrial septal defect, Unconjuga...	OMIM:620186
Cowden Syndrome	Abnormal penis morphology, Follicular thyroid carcinoma, Goiter, Furrowed tongue, Neoplasm of the...	ORPHA:201
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prol...	ORPHA:529808
Acute Bilirubin Encephalopathy	Conjunctival icterus, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prol...	ORPHA:529799
Mycosis Fungoides	Erythema, Psoriasiform dermatitis, Eczematoid dermatitis, Lymphadenopathy	OMIM:254400
Pseudo-Torch Syndrome 1	Polymicrogyria, Renal insufficiency, Splenomegaly, Hepatomegaly, Thrombocytopenia, Pachygyria, Ja...	OMIM:251290
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Autoimmunity, Anti-desmoglein-3 antibody positivity, Anti-...	ORPHA:704
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi...	OMIM:216360
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Congestive heart failure, Ascites, Tricuspid regurgitation, Pleural effu...	ORPHA:2414
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Obesity, Cholecystitis, Sclerosing c...	ORPHA:69663
Cushing Disease	Acne, Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Capill...	ORPHA:96253
Hurler Syndrome	Aortic regurgitation, Cardiomyopathy, Recurrent otitis media, Heparan sulfate excretion in urine,...	OMIM:607014
Trigeminal Neuralgia	Peripheral demyelination, CNS demyelination, Cranial nerve compression	ORPHA:221091
Flynn-Aird Syndrome	Carious teeth, Skin ulcer, Atherosclerosis, Primary adrenal insufficiency, Type II diabetes melli...	ORPHA:2047
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Recurrent pneumonia, Keratitis, Conductive hearing impairment, Recurrent urinary tr...	ORPHA:99843
Bronchial Neuroendocrine Tumor	Pneumonia, Increased serum serotonin, Hypotension, Cardiogenic shock, Right ventricular failure, ...	ORPHA:97287
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Sparse eyebrow, Elevated circulating hepatic transaminase con...	OMIM:619127
Adiposis Dolorosa	Diarrhea, Xerostomia, Bruising susceptibility, Dry skin, Autoimmunity, Hypothyroidism, Constipati...	ORPHA:36397
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Facial diplegia, Axonal degeneration/regeneration, Peripheral axonal neuropathy, Demyelinating pe...	OMIM:218000
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu...	OMIM:617595
Ventriculomegaly With Cystic Kidney Disease	Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid...	OMIM:219730
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Symmetric peripheral demyelination, Leukodystrophy	OMIM:169500
Alopecia Universalis	Atopic dermatitis, Autoimmunity, Psoriasiform dermatitis	ORPHA:701
Charcot-Marie-Tooth Disease Type 1B	Peripheral dysmyelination, Peripheral axonal neuropathy	ORPHA:101082
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cataract, Abnormal auditory evoked potentials, Attenuation of retinal blood vessels, Sensorineura...	OMIM:619260
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos...	ORPHA:223
Monosomy 18P	Tooth malposition, Carious teeth, Downturned corners of mouth, Lymphedema, Autoimmunity, Hypodont...	ORPHA:1598
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight, Cryptorchidism, Synophrys	ORPHA:589905
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Atopic dermatitis, Absent brainstem auditory responses, Thrombocytopenia, Hypochromic microcytic ...	ORPHA:3240
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Abnormal auditory evoked potentials, Shoulder flexion contracture,...	OMIM:193700
Interstitial Cystitis	Functional abnormality of the bladder, Abnormality of the urethra, Abnormality of tumor necrosis ...	ORPHA:37202
Severe Acute Respiratory Syndrome	Acute kidney injury, Acute infectious pneumonia	ORPHA:140896
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Microcornea, Sparse eyelashes, Ventricular septal defect, Epicanthus, Keratoconjun...	OMIM:234050
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi...	ORPHA:47159
Infantile Myofibromatosis	Chondrocalcinosis, Skin ulcer, Intestinal obstruction, Abnormal intestine morphology, Tracheoesop...	ORPHA:2591
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Sparse eyebrow, Cupped ear, Ectopic lacrimal punctum, Telecanthus, Lower eyelid col...	OMIM:167730
Glycogen Storage Disease Ii	Sinus tachycardia, Dilatation of the cerebral artery, Pleural effusion, Splenomegaly, Elevated ci...	OMIM:232300
Classical-Like Ehlers-Danlos Syndrome Type 2	Periodontitis, Aortic root aneurysm, Prominent veins on trunk, Bilateral ptosis, Bruising suscept...	ORPHA:536532
Gorham-Stout Disease	Meningitis, Lymphangioma, Elevated alkaline phosphatase of bone origin, Osteomyelitis	ORPHA:73
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Panniculitis, Skin ulcer, Hemophagocytosis	ORPHA:86884
Mucopolysaccharidosis, Type Iiib	Coarse hair, Splenomegaly, Hirsutism, Cardiomegaly, Hepatomegaly, Synophrys	OMIM:252920
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Pleural effusion, Lymphadenopathy, Pericardial effusion, Bronchiectasis	ORPHA:411703
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath...	OMIM:600740
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Rhyns Syndrome	Chronic kidney disease, Nephronophthisis, Renal insufficiency	OMIM:602152
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cataract, Leg muscle stiffness, Tortuosity of conjunctival vessels, Limb ataxia, Abnormal circula...	ORPHA:284289
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Leukodystrophy, Hypomyelinating, 5	Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct...	OMIM:610532
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Hearing impairment, Protruding ear, Keratoconjunctivitis sicca, Hypohidros...	ORPHA:1806
Spinocerebellar Ataxia, Autosomal Recessive 10	Tortuosity of conjunctival vessels, Limb ataxia, Gait ataxia, Dysmetria, Truncal ataxia	OMIM:613728
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ataxia, Dilated cardiomyopathy, Ketonuria, Aspiration pneumonia, Tricuspid regurgitation, Left ve...	OMIM:619167
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Onion bulb formation, Axonal degeneration, Decreased number of pe...	OMIM:302800
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren...	ORPHA:1031
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys...	ORPHA:411629
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Lupus anticoagulant, Antiphospholipid antibody positivity, E...	ORPHA:70591
Scheie Syndrome	Aortic regurgitation, Splenomegaly, Mucopolysacchariduria, Everted lower lip vermilion, Thick ver...	ORPHA:93474
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency	OMIM:247410
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Alopecia, Sparse eyebrow, Cholestasis, Portal hypertension, Splenomegaly, Scler...	OMIM:607626
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Hematochezia, Gastrointestinal hemorrhage, Intestinal bleeding, Diarrhea, Abnorm...	ORPHA:79076
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the uterus, Acne, Abnormal exter...	OMIM:158330
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Glucose-Galactose Malabsorption	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:35710
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Peripheral hypomyelination	ORPHA:48431
Hand-Foot-Genital Syndrome	Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C...	OMIM:140000
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Colonic diverticula, Diarrhea, Elevated circulating calcitonin concentration...	OMIM:162300
Down Syndrome	Keratoconus, Acute megakaryocytic leukemia, Ventricular septal defect, Renal hypoplasia/aplasia, ...	ORPHA:870
Chronic Graft Versus Host Disease	Diarrhea, Xerostomia, Gastroesophageal reflux, Urinary bladder inflammation, Fasciitis, Elevated ...	ORPHA:99921
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concentration	OMIM:619685
Vitamin B12-Unresponsive Methylmalonic Acidemia	Pancreatitis, Renal insufficiency	ORPHA:27
Hurler Syndrome	Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelasto...	ORPHA:93473
Hypothyroidism, Congenital, Nongoitrous, 5	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Mitral...	OMIM:225250
Meacham Syndrome	Abnormal vagina morphology, Hydrometrocolpos, Abnormality of the spleen, Cryptorchidism, Ambiguou...	ORPHA:3097
Cartilage-Hair Hypoplasia	Sparse eyebrow, Cardiomyopathy, Macrotia, Low-set, posteriorly rotated ears, Abnormality of retin...	ORPHA:175
Cranioectodermal Dysplasia 2	Cholestasis, Hyperbilirubinemia, Atrial septal defect, Everted lower lip vermilion, Hepatomegaly,...	OMIM:613610
Caudal Regression Syndrome	Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d...	ORPHA:3027
Hypothyroidism, Congenital, Nongoitrous, 1	Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:275200
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cholestasis, Hepatosplenomegaly, Mitral regurgitation, Cryptorchidism, Ventricular septal defect,...	OMIM:614866
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Skin ulcer, Abnormal erythrocyte mor...	ORPHA:288
Familial Keratoacanthoma	Skin ulcer	ORPHA:493
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Congenital hypothyroidism, Delayed eruption of permanent teeth, Tented upper lip vermilion, Verte...	ORPHA:521445
Myasthenia Gravis	Thymoma, Autoimmunity, Facial palsy	OMIM:254200
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal dysplasia	OMIM:614922
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Exercise-induced myo...	OMIM:607155
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Oligohydramnios, Hyperammonemia, Hep...	OMIM:617093
Mucopolysaccharidosis Type 6	Thick lower lip vermilion, Abnormal heart valve morphology, Genu valgum, Splenomegaly, Mucopolysa...	ORPHA:583
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Brain abscess, Anti-granulocyte-macrophage colony stimulating factor antibody positivi...	OMIM:610910
Isolated Osteopoikilosis	Discoid lupus rash, Sclerotic foci within carpal bones, Abnormal heart morphology, Autoimmunity, ...	ORPHA:166119
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Gastric ...	ORPHA:2072
Cystic Fibrosis	Elevated circulating hepatic transaminase concentration, Recurrent respiratory infections, Recurr...	ORPHA:586
Spinocerebellar Ataxia 25	Urinary urgency, Decreased number of peripheral myelinated nerve fibers	OMIM:608703
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal d...	OMIM:208540
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Elevated circulating parathyroid hormone level, Hyperphosphaturia, Splenomegaly, H...	OMIM:239200
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve...	OMIM:301111
Mucolipidosis Ii Alpha/Beta	Recurrent otitis media, Progressive alveolar ridge hypertropy, Mitral regurgitation, Carpal bone ...	OMIM:252500
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, P...	OMIM:260400
Charcot-Marie-Tooth Disease Type 4A	Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Demyelin...	ORPHA:99948
Alagille Syndrome 1	Low-set ears, Cholestasis, Ventricular septal defect, Posterior embryotoxon, Cirrhosis, Atrial se...	OMIM:118450
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation...	OMIM:230800
Tangier Disease	Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Dry skin, Chronic noninfectiou...	ORPHA:31150
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Aspirat...	OMIM:616368
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Low-set ears, Sparse eyebrow, Optic nerve hypoplasia, Gastroesophageal reflux, Long eyelashes, Br...	ORPHA:495875
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections	ORPHA:60033
Marfanoid-Progeroid-Lipodystrophy Syndrome	Ectopia lentis, Aortic root aneurysm, Bruising susceptibility, Downslanted palpebral fissures, Me...	OMIM:616914
Pure Mitochondrial Myopathy	Quadriceps muscle weakness, Bilateral ptosis, Shoulder girdle muscle weakness, Rhabdomyolysis, Pr...	ORPHA:254854
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Achalasia, Familial Esophageal	Rheumatoid arthritis, Xerostomia, Achalasia, Keratoconjunctivitis sicca	OMIM:200400
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Abnormal atrioventricular conduction, Atherosclerosis, Hypertrophic ...	ORPHA:280365
Orofaciodigital Syndrome I	Carious teeth, Ankyloglossia, Ovarian cyst, High palate, Polycystic kidney dysplasia, Abnormal he...	OMIM:311200
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Vomiting, Gastroesophageal reflux, Hilar lymph node enlargement, Recurrent otitis media, Tricuspi...	OMIM:620233
Xeroderma Pigmentosum	Hearing impairment, Hypopigmented skin patches, Sensorineural hearing impairment, Telangiectasia,...	ORPHA:910
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Hypoplasia of the iris, Limbal dermoid, Linear hyperpigment...	OMIM:613001
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Abnormally prominent line of Schwalbe, Abnormal auditory evoked potentials, Telecanthus, Rieger a...	OMIM:109120
Sarcoidosis, Susceptibility To, 2	Pleural effusion, Splenomegaly, Pulmonary arterial hypertension, Erythema nodosum, Hepatomegaly, ...	OMIM:612387
Polycythemia Vera	Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch...	ORPHA:729
Mucopolysaccharidosis, Type Vii	Cardiomyopathy, Widely spaced teeth, Recurrent otitis media, Heparan sulfate excretion in urine, ...	OMIM:253220
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Degeneration of anterior horn cells, Axonal degeneration, Decreased number of peripheral myelinat...	OMIM:604484
Cowden Syndrome 7	Goiter, Intestinal polyposis, Hashimoto thyroiditis, Ductal carcinoma in situ, Papillary thyroid ...	OMIM:616858
Hyperlipoproteinemia, Type Id	Premature coronary artery atherosclerosis, Increased circulating chylomicron concentration, Decre...	OMIM:615947
Bardet-Biedl Syndrome 9	Renal insufficiency	OMIM:615986
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile...	ORPHA:731
Williams-Beuren Syndrome	Recurrent otitis media, Open mouth, Mitral regurgitation, Chronic constipation, Ventricular septa...	OMIM:194050
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:613550
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Hypotension, Right ventricul...	ORPHA:100080
Chylomicron Retention Disease	Hypoalbuminemia, Diarrhea, Vomiting, Hypotriglyceridemia, Hypocholesterolemia, Accumulation of li...	OMIM:246700
Neuropathy, Hereditary Sensory, Type Ie	Osteomyelitis, Decreased number of peripheral myelinated nerve fibers	OMIM:614116
Feingold Syndrome Type 1	Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Abnormal...	ORPHA:391641
Eec Syndrome	Xerostomia, Renal hypoplasia/aplasia, Sensorineural hearing impairment, Inflammatory abnormality ...	ORPHA:1896
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Congenital hip dislocation, Renal hypoplasia, Nephrocalcinosis, Gastroesophageal r...	OMIM:617913
Liddle Syndrome 1	Renal insufficiency	OMIM:177200
Neuroendocrine Tumor Of Stomach	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic sho...	ORPHA:100075
Neuroendocrine Tumor Of The Rectum	Increased serum serotonin, Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, R...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Increased serum serotonin, Hematochezia, Hypotension, Abnormal pulmonary valve cusp morphology, R...	ORPHA:100082
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Autosomal Spastic Paraplegia Type 58	Peripheral demyelination	ORPHA:397946
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Erythema, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, ...	OMIM:147060
Hurler-Scheie Syndrome	Aortic regurgitation, Camptodactyly of finger, Heparan sulfate excretion in urine, Contracture of...	OMIM:607015
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Oculoauriculofrontonasal Syndrome	Conductive hearing impairment, Ventricular septal defect, Upper eyelid coloboma, Limbal dermoid, ...	ORPHA:398156
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Pmm2-Cdg	Increased circulating prolactin concentration, Aspiration pneumonia, Hyperinsulinemia, Aplasia of...	ORPHA:79318
Porphyria Variegata	Chronic kidney disease, Increased urinary porphobilinogen, Porphyrinuria, Skin vesicle, Neurogeni...	ORPHA:79473
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Abnormality of the dentition, Congenital hypothyroidism, Genu va...	OMIM:271510
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Familial Tumoral Calcinosis	Abnormality of the dentition, Nephrocalcinosis, Erythema, Splenomegaly, Skin rash, Abnormal palat...	ORPHA:53715
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight, Pancreatic islet-cell hyperplasia	ORPHA:276608
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Abnormality of the urinary system, Cherry red spot of the macula, Hypertr...	OMIM:230500
Apparent Mineralocorticoid Excess	Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency	ORPHA:320
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Vomiting, Gastroesophageal reflux, Anasarca, Recurrent urinary tract infections,...	OMIM:613658
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, Hy...	ORPHA:424
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Premature graying o...	OMIM:620367
Refsum Disease	Dry skin, Renal insufficiency	ORPHA:773
Snakebite Envenomation	Erythema, Acute kidney injury, Ecchymosis	ORPHA:449285
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Secundum atrial septal defect, Hypertrophic cardiomyopathy, Facial diplegi...	OMIM:619121
Trichohepatoneurodevelopmental Syndrome	Recurrent otitis media, Increased serum bile acid concentration, Ventricular septal defect, Hepat...	OMIM:618268
Primary Angiitis Of The Central Nervous System	Transient global amnesia, Cerebral vasculitis, Vertigo, Transient ischemic attack, Pseudopapilled...	ORPHA:140989
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal hypoplasia, Renal insufficiency, Hypoplasia of penis, Renal dysplasia	ORPHA:85321
Acitretin/Etretinate Embryopathy	Cupped ear, Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defec...	ORPHA:40366
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Congenital hip dislocation, Erythema, Cleft upper lip, Elevated 8(9)-c...	OMIM:308050
Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Decreased circulating IgG level, Highly arched eyebrow, Epicanthus inversus, Cupped...	OMIM:617062
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Distal amyotrophy, Decreased motor nerve conduction velocity, Chorea, Limb ataxia, Gait ataxia, I...	OMIM:606002
Bardet-Biedl Syndrome 20	Elevated circulating hepatic transaminase concentration, Retinal vascular tortuosity, Astigmatism...	OMIM:619471
Beckwith-Wiedemann Syndrome	Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal ...	ORPHA:116
Neurofibroma	Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Abnormal biliary tract...	ORPHA:252183
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Erythema, Decreased glomerular filtration rate, Renal insuffi...	OMIM:614748
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Hypoplastic anemia, Hepatic failure, Elevated circulating hepatic tran...	OMIM:557000
Carney Triad	Gastrointestinal hemorrhage, Adrenal overactivity, Diarrhea, Adrenocortical adenoma, Ascites, Phe...	ORPHA:139411
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency	ORPHA:1563
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Adult Syndrome	Fair hair, Eczematoid dermatitis, Freckling, Nasolacrimal duct obstruction, Conjunctivitis	OMIM:103285
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki...	OMIM:617641
Mosaic Trisomy 9	Renal dysplasia, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Asplenia, Hypoplasia of ...	ORPHA:99776
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff...	ORPHA:93111
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Aortic root aneurysm, Mitral valve prolapse, Epicanthus, Arrhythmia, Tendon rupture,...	ORPHA:285
Autosomal Recessive Malignant Osteopetrosis	Bruising susceptibility, Delayed eruption of teeth, Premature loss of primary teeth, Abnormal pul...	ORPHA:667
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co...	ORPHA:3453
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc...	ORPHA:64753
Autosomal Recessive Spastic Paraplegia Type 35	Enuresis nocturna, Optic atrophy, Peripheral demyelination, Urinary incontinence, Pollakisuria	ORPHA:171629
Ifap Syndrome 2	Cataract, Posterior blepharitis, Keratitis, Angular cheilitis, Keratoconjunctivitis sicca	OMIM:619016
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Diarrhea, Thyroid hyperplasia, Goiter, Hy...	ORPHA:99819
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Vomiting, Polysplenia, Exocrine pancreatic insuffici...	OMIM:619418
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Lymphangioleiomyomatosis	Optic atrophy, Gastrointestinal hemorrhage, Abnormal urinary color, Pulmonary lymphangiomyomatosi...	ORPHA:538
Thyroid Ectopia	Macroglossia, Elevated circulating thyroid-stimulating hormone concentration, Dry skin, Abnormali...	ORPHA:95712
Chime Syndrome	Abnormality of the dentition, Acute leukemia, Erythema, Skin ulcer, Tetralogy of Fallot, Abnormal...	ORPHA:3474
Johanson-Blizzard Syndrome	Elevated gamma-glutamyltransferase level, Sensorineural hearing impairment, Ventricular septal de...	OMIM:243800
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Nail dystrophy, Hirsutism, Increased body weight, Low posterior hairline, Sy...	OMIM:300860
Adams-Oliver Syndrome 5	Dystrophic toenail, Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypert...	OMIM:616028
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Urinary incontinence, Delayed peripheral myelination	ORPHA:464282
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Insulin-resistant diabetes mellitus, Neoplasm ...	ORPHA:79474
Fanconi Anemia, Complementation Group O	Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease	OMIM:613390
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
D-Bifunctional Protein Deficiency	Fetal ascites, Increased circulating very long-chain fatty acid concentration, Long philtrum, Del...	OMIM:261515
Stiff-Person Syndrome	Anemia, Tachycardia, Autoimmunity, Hypertension	OMIM:184850
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections, Anemia	OMIM:244460
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers	ORPHA:90103
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight, Alopecia, Adrenal hyperplasia, Hirsutism	OMIM:615830
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis, Hyperalaninemia	OMIM:614582
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Chronic axonal neuropathy, Osteomyelitis, Decreased number of large peripheral myelinated nerve f...	OMIM:162400
Limb-Mammary Syndrome	Sparse eyebrow, Lacrimal duct atresia, Psoriasiform dermatitis, Absent lacrimal punctum, Chronic ...	ORPHA:69085
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Abnormal pineal melatonin secretion, Ascites, Hyp...	ORPHA:69665
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophi...	OMIM:618052
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Polyhydramnios, Chylothorax, Thymus hyperplasia	OMIM:619036
Pseudohypoparathyroidism, Type Ib	Obesity, Pseudohypoparathyroidism	OMIM:603233
Pili Torti-Onychodysplasia Syndrome	Eczematoid dermatitis, Absent eyelashes, Conjunctival hyperemia, Absent eyebrow, Abnormal pinna m...	ORPHA:2890
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Phace Association	Congenital hypothyroidism, Arterial stenosis, Lingual thyroid, Ventricular septal defect, Coarcta...	OMIM:606519
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis, Coronary artery fistula, Cryptorchidism, Ventricular septal defect, At...	OMIM:620024
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, Hepatic steatosis, Supraventricular arrhythmia, Micropenis, T lymphocytopenia,...	ORPHA:2959
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid...	ORPHA:416
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis, ...	ORPHA:71493
Acute Intermittent Porphyria	Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Porphyrinu...	ORPHA:79276
Chronic Visceral Acid Sphingomyelinase Deficiency	Systemic lupus erythematosus, Cherry red spot of the macula, Hypersplenism, Increased LDL cholest...	ORPHA:77293
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections, Micropenis, Delayed myelination	OMIM:241410
Dermatoosteolysis, Kirghizian Type	Keratitis, Skin ulcer, Osteoarthritis	ORPHA:1657
Mucopolysaccharidosis Type 7	Arteriovenous malformation, Hepatitis, Lymphedema, Ascites, Splenomegaly, Mucopolysacchariduria, ...	ORPHA:584
Lambert-Eaton Myasthenic Syndrome	Xerostomia, Orthostatic hypotension due to autonomic dysfunction, Keratoconjunctivitis sicca, Hyp...	ORPHA:43393
Acute Transverse Myelitis	Severe viral infection, Urinary retention, Systemic lupus erythematosus, Invasive parasitic infec...	ORPHA:139417
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Intraventricu...	OMIM:619055
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Acute kidney injury, Necrotizing myopathy, Acute hepat...	ORPHA:423
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased body weight, Macronodular adrenal hyperplasia, Abdominal obesity	OMIM:615954
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hyperpigmented/hypopigmented macules, Proximal muscle weakness in lower limbs, Aortic root aneury...	ORPHA:280633
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Congestive heart failure, Ascites, Cholestasis, Hyperbilirub...	OMIM:617156
East Syndrome	Renal magnesium wasting, Abnormal urinary electrolyte concentration, Renal sodium wasting, Periph...	ORPHA:199343
Frontofacionasal Dysplasia	Cataract, Microcornea, Telecanthus, Limbal dermoid, Absent inner eyelashes, Upper eyelid coloboma...	ORPHA:1791
Paroxysmal Hemicrania	Conjunctival hyperemia, Ptosis, Palpebral edema, Rhinitis, Hypertension	ORPHA:157835
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Primary Hepatic Neuroendocrine Carcinoma	Increased serum serotonin, Diarrhea, Right ventricular failure, Neuroendocrine neoplasm, Ascites,...	ORPHA:100085
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis	OMIM:619351
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease	OMIM:618821
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Neutropenia	OMIM:617050
Carney Complex, Type 1	Palatine myxoma, Pituitary adenoma, Congestive heart failure, Pheochromocytoma, Thyroid carcinoma...	OMIM:160980
Middle Ear Neuroendocrine Tumor	Chronic diarrhea, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Neuroendocrine neoplasm	ORPHA:100084
Mucopolysaccharidosis Type 2, Severe Form	Hepatosplenomegaly, Abnormal mitral valve morphology, Arrhythmia, Arthritis, Peripheral arterial ...	ORPHA:217085
Diaphanospondylodysostosis	Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Enlarged kidney, Cystic renal dysplasia,...	OMIM:608022
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Delayed cranial suture closure, Hypopituitarism, Decreased circulati...	ORPHA:226307
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Pituitary adenoma, Neuroendocrine neoplasm, Meningioma, Macronodular adrenal hyperplasi...	ORPHA:189427
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi...	ORPHA:293381
Holoprosencephaly-Postaxial Polydactyly Syndrome	Abnormality of the hypothalamus-pituitary axis, Intestinal malrotation, Narrow mouth, Cryptorchid...	ORPHA:2166
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,...	ORPHA:456312
Peho Syndrome	Peripheral dysmyelination, Optic atrophy	OMIM:260565
Mucopolysaccharidosis, Type Vi	Pneumonia, Macroglossia, Hypoplastic acetabulae, Carious teeth, Sinus tachycardia, Cardiomyopathy...	OMIM:253200
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc...	ORPHA:1359
Lymphatic Malformation 6	Facial edema, Generalized edema, Gastroesophageal reflux, Chylothorax, Lymphedema, Ascites, Intes...	OMIM:616843
Mucopolysaccharidosis Type 2, Attenuated Form	Hepatosplenomegaly, Abnormal mitral valve morphology, Arrhythmia, Arthritis, Peripheral arterial ...	ORPHA:217093
Joubert Syndrome 9	Stage 5 chronic kidney disease	OMIM:612285
Neuropathy, Hereditary Sensory And Autonomic, Type V	Septic arthritis, Osteomyelitis, Acral ulceration, Osteoarthritis, Urinary incontinence	OMIM:608654
Staphylococcal Necrotizing Pneumonia	Pneumonia, Hypotension, Shock, Confusion, Leukopenia, Leukocytosis, Acute infectious pneumonia, N...	ORPHA:36238
Hermansky-Pudlak Syndrome 1	Colitis, Inflammation of the large intestine, Renal insufficiency, Ecchymosis	OMIM:203300
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Peripheral demyelination, Microvesicular hepatic steatosis, CNS demyelination, Hypospa...	OMIM:220111
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Overgrowth, Lipoma, Splenomegaly, Nephroblastoma	OMIM:612918
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Intercrural pterygium, Exostosis of the external auditory canal, Congenital diaphra...	OMIM:265000
Phace Syndrome	Aortic root aneurysm, Tetralogy of Fallot, Abnormal heart morphology, Abnormal cerebral artery mo...	ORPHA:42775
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Bone marrow hypocellularity, Failure to thrive, Large for gestational age, Neutropenia, Thrombocy...	OMIM:614520
Benign Schwannoma	Abnormality of the liver, Intestinal polyposis, Abnormal esophagus morphology, Abnormality of the...	ORPHA:252164
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Frontal balding, Abnormality of the ovary, Facial hirsutism, Obesity, Thi...	ORPHA:247768
Sunct Syndrome	Vomiting, Conjunctival hyperemia, Nausea, Ear pain, Ptosis, Hyperhidrosis, Palpebral edema, Episo...	ORPHA:57145
Lujo Hemorrhagic Fever	Oliguria, Renal insufficiency, Skin rash, Maculopapular exanthema, Ecchymosis, Purpura, Myocardit...	ORPHA:319213
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Palmoplantar keratoderma, Skin ulcer	ORPHA:659
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Peripheral axonal neuropathy, Axonal degeneration, Decreased number of peripheral myelinated nerv...	OMIM:615490
Familial Multiple Nevi Flammei	Arteriovenous malformation, Pulmonary embolism, Skin ulcer, Venous insufficiency, Arrhythmia, Int...	ORPHA:624
Spastic Ataxia, Charlevoix-Saguenay Type	Decreased number of large peripheral myelinated nerve fibers, Urinary urgency, Hypermyelinated re...	OMIM:270550
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
8P11.2 Deletion Syndrome	Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Azoospermia, Splenomegaly, Cryptorc...	ORPHA:251066
Isolated Congenital Alacrima	Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivi...	ORPHA:91416
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Abdominal aortic aneurysm, Intervertebral disk degeneration, Knee osteoa...	OMIM:619656
Familial Pancreatic Carcinoma	Peritoneal abscess, Intestinal pseudo-obstruction, Exocrine pancreatic insufficiency, Pancreatic ...	ORPHA:1333
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l...	OMIM:259900
Lipodystrophy, Congenital Generalized, Type 2	Hypertrophic cardiomyopathy, Hyperinsulinemia, Type II diabetes mellitus, Splenomegaly, Hepatic s...	OMIM:269700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Renal insufficiency, Hydronephrosis, Long-chain dicarboxylic aciduria, Ureteral ...	OMIM:608836
Ehlers-Danlos Syndrome, Periodontal Type, 1	Gingival bleeding, Joint dislocation, Periodontitis, Bruising susceptibility, Gingival recession,...	OMIM:130080
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Large for gestational age, Focal pancreatic islet hyperplas...	ORPHA:79644
Pancreatoblastoma	Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology	ORPHA:677
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Pemphigus Foliaceus	Autoimmunity, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Erythroderma	ORPHA:79481
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Phaver Syndrome	Low-set ears, Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Pulmonary artery...	ORPHA:2876
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease	OMIM:613819
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective production of NFKB1-de...	OMIM:612132
Cranioectodermal Dysplasia 4	Cutis laxa, Recurrent pneumonia, Stage 5 chronic kidney disease	OMIM:614378
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Pleural effusion, Hemothorax, Pulmonary e...	ORPHA:199241
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Atrial septal defect, Bilateral renal dysplasia, Dysphagia, Gastroesophageal ...	ORPHA:500150
Wolfram Syndrome 2	Optic atrophy, Abnormal bleeding, Sensorineural hearing impairment, Neurogenic bladder, Optic neu...	OMIM:604928
Stüve-Wiedemann Syndrome	Abnormality of the dentition, Smooth tongue, Camptodactyly of finger, Elbow flexion contracture, ...	ORPHA:3206
Meckel Syndrome, Type 1	Natal tooth, Abnormality of the ureter, Cryptorchidism, Anal atresia, Polycystic kidney dysplasia...	OMIM:249000
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Cataract, Sparse eyebrow, Hamartoma of the orbital region, Cupped ear, Lacrimal pun...	ORPHA:2399
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Gastroesophageal reflux, Aortic root aneurysm, Recurrent otitis media, Autoimmunity, Mitral valve...	ORPHA:449291
Proteus Syndrome	Carious teeth, Arteriovenous malformation, Venous malformation, Open mouth, Hip dislocation, Lymp...	ORPHA:744
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Sacroiliac arthritis, Autoimmunity, Psoriasiform dermatitis, Malar rash, Skin rash, Anti...	ORPHA:85436
Spastic Ataxia 5, Autosomal Recessive	Onion bulb formation	OMIM:614487
Congenital Disorder Of Glycosylation, Type Iig	Hydronephrosis, Hypospadias, Renal insufficiency, Hemolytic-uremic syndrome	OMIM:611209
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Atopic dermatitis, Sensory axonal neuropathy, Mixed demyelinating and axonal polyneuropathy, Moto...	ORPHA:466768
Short-Rib Thoracic Dysplasia 12	Renal hypoplasia, Periportal fibrosis, Natal tooth, Edema, Ascites, Hamartoma of tongue, Intestin...	OMIM:269860
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Pterygium, Multiple pterygia, Epicanthus, Hypospadias, Abnormal pinna morphology	OMIM:177980
Pterygium Of Conjunctiva And Cornea	Pterygium, Abnormal conjunctiva morphology	OMIM:178000
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site	ORPHA:168563
Oculoectodermal Syndrome	Hyperpigmented streaks, Microcornea, Hypertrophic cardiomyopathy, Transient ischemic attack, Asti...	OMIM:600268
Giant Axonal Neuropathy 1, Autosomal Recessive	Facial palsy, Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral ...	OMIM:256850
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J...	OMIM:607625
Phoar2-Enteropathy Syndrome	Hypoalbuminemia, Secretory diarrhea, Seborrheic dermatitis, Hyperhidrosis, Acne	OMIM:614441
Pallister-Hall Syndrome	Natal tooth, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, Ventricular septal d...	ORPHA:672
Peters-Plus Syndrome	Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Bilobate gallbladder, Hypopla...	OMIM:261540
Bohring-Opitz Syndrome	Hyperechogenic pancreas, Recurrent infections, Vesicoureteral reflux, Delayed peripheral myelination	OMIM:605039
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Microlissencephaly, Hypoplasia of the uterus, Simplified gyral pattern	OMIM:617914
Mucolipidosis Type Ii	Abnormal atrioventricular valve physiology, Hepatosplenomegaly, Mitral regurgitation, Hip contrac...	ORPHA:576
Isolated Sedoheptulokinase Deficiency	Abnormal renal tubule morphology, Renal insufficiency, Hepatitis	ORPHA:440713
Zimmermann-Laband Syndrome 1	Long penis, Aortic root aneurysm, Gastroesophageal reflux, Cardiomyopathy, Downturned corners of ...	OMIM:135500
Meckel Syndrome 12	Low-set ears, Renal hypoplasia, Arthrogryposis multiplex congenita, Bilateral renal agenesis, Ant...	OMIM:616258
Scalp-Ear-Nipple Syndrome	Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t...	ORPHA:2036
Kleefstra Syndrome	Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Micropenis, Hypoplasia of...	ORPHA:261494
Malt Lymphoma	Posterior uveitis, Abnormality of the thyroid gland, Constipation, Hyperhidrosis, Lymphadenopathy...	ORPHA:52417
Hypothyroidism, Congenital, Nongoitrous, 9	Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le...	OMIM:301035
Thyroid Hypoplasia	Macroglossia, Hypothyroidism, Constipation, Jaundice, Thyroid hypoplasia	ORPHA:95720
Bruck Syndrome 2	Hydroxyprolinuria, Pterygium, Elbow flexion contracture, Knee flexion contracture, Flexion contra...	OMIM:609220
Lipodystrophy, Congenital Generalized, Type 1	Cardiomyopathy, Hyperinsulinemia, Splenomegaly, Hepatic steatosis, Nephrolithiasis, Polycystic ov...	OMIM:608594
Mckusick-Kaufman Syndrome	Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Vaginal atresia, Rectovaginal fistul...	OMIM:236700
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency	ORPHA:2318
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Chronic pancreatitis, Splenomegaly, Hepatic steatosis, Elevated circulating creat...	OMIM:610717
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Congestive heart failure, Oligohydramnios, Cholecystitis, Macr...	OMIM:615512
Leukodystrophy, Hypomyelinating, 13	Delayed brainstem auditory evoked response conduction time, Optic atrophy	OMIM:616881
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency	ORPHA:220497
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Renal insufficiency, Gout, Hyperuricosuria, Uric acid nephrolithiasis, Hypospadias	OMIM:300661
Angioedema, Hereditary, 1	Erythema, Diarrhea, Vomiting, Angioedema, Autoimmunity, Decreased circulating C1-esterase inhibit...	OMIM:106100
Kanzaki Disease	Aminoaciduria, Vertigo, Tortuosity of conjunctival vessels, Increased urinary O-linked sialopepti...	OMIM:609242
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, V...	ORPHA:158684
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Pterygium, Renal duplication, ...	ORPHA:79403
Autosomal Recessive Cutis Laxa Type 1	Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract...	ORPHA:90349
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Stage 5 chronic kidney disease, In...	ORPHA:89938
Limbal Stem Cell Deficiency	Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s...	ORPHA:171673
Bartsocas-Papas Syndrome 1	Low-set ears, Absent eyelashes, Cicatricial lagophthalmos, Absent eyebrow, Blepharophimosis, Ecto...	OMIM:263650
Sifrim-Hitz-Weiss Syndrome	Micropenis, Vesicoureteral reflux, Renal insufficiency	OMIM:617159
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Maternal Uniparental Disomy Of Chromosome 2	Chordee, Hypospadias, Renal dysplasia, Renal insufficiency	ORPHA:96179
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Hypokalemia, M...	OMIM:174900
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Hyperechogenic kidneys, Renal cortical cysts, Renal insufficiency, Redundant neck skin, Recurrent...	ORPHA:397715
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Chylothorax, Erysipelas, Long philtrum, Lymphedema, Skin ulcer, Dry skin, Pleural effusion, Atria...	ORPHA:2526
Lynch Syndrome	Gastrointestinal hemorrhage, Pituitary adenoma, Cardiac diverticulum, Colon cancer, Pancreatic ad...	ORPHA:144
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Pterygium, Pancytopenia, Reticula...	OMIM:224230
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia	OMIM:267400
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my...	ORPHA:320406
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Peripheral axonal neuropathy, Facial diplegia, Decreased number of peripheral myel...	ORPHA:254930
Ethylene Glycol Poisoning	Renal insufficiency, Renal tubular dysfunction, Hematuria, Gastritis, Decreased urine output, Ren...	ORPHA:31826
Bardet-Biedl Syndrome 6	Vaginal atresia, External genital hypoplasia, Hypospadias	OMIM:605231
Traboulsi Syndrome	Cataract, Homocystinuria, Ectopia lentis, Phakodonesis, Downslanted palpebral fissures, Iris atro...	OMIM:601552
Adrenocortical Carcinoma	Hypertrichosis, Lung adenocarcinoma, Increased body weight, Adrenocortical carcinoma, Adrenocorti...	ORPHA:1501
Intellectual Developmental Disorder, Autosomal Dominant 73	Low-set ears, Recurrent otitis media, Epiblepharon, Narrow palpebral fissure, Macrotia, Short pal...	OMIM:620450
Bardet-Biedl Syndrome 17	Micropenis, Renal cyst, Stage 5 chronic kidney disease, Polyuria	OMIM:615994
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Dry skin, Multinodular goiter, Conjunctival telangiectasia, Scaling skin, Premature loss of teeth	OMIM:618373
Structural Heart Defects And Renal Anomalies Syndrome	Renal cyst, Webbed neck, Renal insufficiency	OMIM:617478
Mody	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Obesity, Large for gestational age, Hep...	ORPHA:552
Townes-Brocks Syndrome	Hearing impairment, Blepharophimosis, Abnormality of the kidney, Atrial septal defect, Iris colob...	ORPHA:857
Leprosy	Epistaxis, Testicular mass, Penetrating foot ulcers, Abnormality of the spleen, Abnormality of th...	ORPHA:548
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Low-set ears, Long eyelashes, Gait ataxia, Protruding ear, Posteriorly rotated ears, Keratoconjun...	OMIM:618479
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Vesicoureteral reflux, Renal insufficiency	ORPHA:96147
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Peptic ulcer, Hypocalciuria, Chondrocalcinosis, Hypomagn...	ORPHA:405
Hamamy Syndrome	Low-set ears, Sparse eyebrow, Hypochromic anemia, Sparse lateral eyebrow, Neck pterygia, Microcyt...	OMIM:611174
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Keratoconjunctivitis sicca, Iron deficiency anemia, ...	ORPHA:309031
Gaucher Disease, Type Ii	Bronchiolitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230900
Danon Disease	Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon...	OMIM:300257
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th...	ORPHA:322
Adult Syndrome	Dry skin, Skin ulcer, Thin skin	ORPHA:978
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Axillary pterygium, Intractable diarrhea, Urethrovesical occlusion, Ectropion, Arthrogryposis mul...	OMIM:226730
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Recurrent otitis media, G...	ORPHA:261537
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Delayed eruption...	OMIM:300952
Cholera	Acute kidney injury, Aspiration pneumonia, Palmoplantar cutis laxa, Decreased urine output, Abnor...	ORPHA:173
Choreoacanthocytosis	Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr...	ORPHA:2388
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Renal sodium wasting, Peripheral hypomyelination, Chronic axonal neuropa...	OMIM:612780
Mckusick-Kaufman Syndrome	Hydrometrocolpos, Glandular hypospadias, Cryptorchidism, Urogenital sinus anomaly, Patent ductus ...	ORPHA:2473
Smith-Magenis Syndrome	Increased body weight, Synophrys	OMIM:182290
Pyomyositis	Myositis, Renal insufficiency, Recurrent cutaneous abscess formation	ORPHA:764
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:99880
Camptobrachydactyly	Septate vagina	ORPHA:1319
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Wrist sw...	OMIM:309000
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Splenic cyst, Pancreatitis, Abnormal CNS myelination, Abnormal mye...	OMIM:620371
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Ectopic kidney	ORPHA:140952
Patent Urachus	Recurrent gram-negative bacterial infections, Recurrent urinary tract infections	ORPHA:431341
Mowat-Wilson Syndrome	Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Recurrent otitis media, G...	ORPHA:2152
Meacham Syndrome	Accessory spleen, Septate vagina, Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Pa...	OMIM:608978
Parathyroid Carcinoma	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:143
Bardet-Biedl Syndrome 12	Hypogonadism, Vaginal atresia, Hydrometrocolpos	OMIM:615989
Camptobrachydactyly	Septate vagina	OMIM:114150
Cutaneous Neuroendocrine Carcinoma	Merkel cell skin cancer, Lymphoid leukemia, Chronic noninfectious lymphadenopathy, Carcinoid tumor	ORPHA:79140
Okamoto Syndrome	Aortic valve stenosis, Exaggerated median tongue furrow, Open bite, Open mouth, Abnormal mitral v...	ORPHA:2729
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Mental deterioration, Neuromuscular dysphagia, Conjunctival hyperemia, Social and ...	ORPHA:240071
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1454
Joubert Syndrome 2	Renal cyst, Nephronophthisis, Renal insufficiency	OMIM:608091
Neuroendocrine Neoplasm Of Appendix	Increased serum serotonin, Adenocarcinoma of the colon, Hypotension, Protracted diarrhea, Primary...	ORPHA:100079
Currarino Syndrome	Septate vagina, Chronic constipation, Perianal abscess, Rectovaginal fistula, Bicornuate uterus	OMIM:176450
Duplication Of Urethra	Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde...	ORPHA:237
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Cleft lip, Coronary artery fistula, Biventricular hypertrophy, Complete a...	OMIM:619343
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease	OMIM:620366
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston...	ORPHA:209902
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly	OMIM:231005
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi...	OMIM:619743
Herpes Simplex Virus Stromal Keratitis	Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea...	ORPHA:137599
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Neuromuscular Oculoauditory Syndrome	Multiple renal cysts, Reduced renal corticomedullary differentiation, Sensory axonal neuropathy, ...	OMIM:618733
Familial Dysautonomia	Glomerulopathy, Renal insufficiency, Abnormality of the kidney	ORPHA:1764
Distal Deletion 10Q	Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, Vesicoureteral refl...	ORPHA:96148
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Hyphema, Recurrent otitis...	ORPHA:261552
Camptodactyly Syndrome, Guadalajara, Type Iii	Symblepharon, Joint contracture of the hand, Small hypothenar eminence, Telecanthus, Camptodactyl...	OMIM:611929
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney	ORPHA:459061
Mercury Poisoning	Acute kidney injury, Interstitial pneumonitis	ORPHA:330021
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Gastroesophageal reflux, Volvulus, Intestinal malrotation, Encopresis, Crypto...	OMIM:616682
Acrofacial Dysostosis, Cincinnati Type	Low-set ears, Hearing impairment, Recurrent otitis media, Biventricular hypertrophy, Ventricular ...	OMIM:616462
Mitochondrial Complex I Deficiency, Nuclear Type 29	Stage 5 chronic kidney disease, Lacticaciduria	OMIM:618250
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Mitral regurgitation, Hepatic steatosis, Renal steatosis, Premature arterio...	ORPHA:391665
Kindler Syndrome	Symblepharon, Periodontitis, Spotty hyperpigmentation, Phimosis, Spotty hypopigmentation, Telangi...	OMIM:173650
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Bitot spots of the conjunctiva	OMIM:277350
Sotos Syndrome	Sparse eyebrow, High anterior hairline, Tall stature, Cryptorchidism, Increased body weight, Over...	OMIM:117550
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Ventricular septal defect...	OMIM:312870
Blue Diaper Syndrome	Increased body weight	ORPHA:94086
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Mend Syndrome	Low-set ears, Cataract, Aortic valve stenosis, Abnormal auditory evoked potentials, Abnormal hear...	ORPHA:401973
Arachnoiditis	Meningitis, Urinary bladder sphincter dysfunction	ORPHA:137817
Hereditary Fructose Intolerance	Chronic kidney disease, Renal insufficiency	ORPHA:469
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Autoimmunity, Abnormal palate morphology, Syncope, Vascular dilatation...	ORPHA:221098
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Pyelonephritis	OMIM:181270
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Abnormal renal morphology, Decreased number of peripheral myelinated nerve fibers	ORPHA:477817
Naxos Disease	Sparse eyebrow, Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Righ...	OMIM:601214
Cranioectodermal Dysplasia 3	Dry skin, Stage 5 chronic kidney disease, Cutis laxa, Nephronophthisis	OMIM:614099
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Septate vagina, Labial hypoplasia, Rectovaginal fistula, Bicornuate uterus	OMIM:300707
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal corticomedul...	OMIM:266920
Colchicine Poisoning	Myocarditis, Oliguria, Renal insufficiency	ORPHA:31824
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Renal insufficiency	OMIM:226980
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Neuroendocrine neoplasm, Ascites, Chronic noninfectious lymphadenopathy, ...	ORPHA:100086
Hermansky-Pudlak Syndrome	Renal insufficiency, Hyperkeratosis	ORPHA:79430
Gelatinous Drop-Like Corneal Dystrophy	Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit...	ORPHA:98957
White Sponge Nevus 1	Abnormal conjunctiva morphology	OMIM:193900
Familial Multinodular Goiter	Sertoli cell neoplasm, Thyroid carcinoma, Multinodular goiter, Testicular seminoma, Renal cell ca...	ORPHA:276399
Tuberous Sclerosis Complex	Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Renal angiomyolipoma...	ORPHA:805
Treacher Collins Syndrome 1	Abnormal heart morphology, Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal ...	OMIM:154500
Camptodactyly Syndrome, Guadalajara Type 3	Symblepharon, Sternocleidomastoid amyotrophy, Telecanthus, Thick eyebrow, Micropenis, Abnormal pi...	ORPHA:488434
Glutaryl-Coa Dehydrogenase Deficiency	Chronic kidney disease, Glutaric aciduria	ORPHA:25
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers	OMIM:201300
Adenocarcinoma Of The Anal Canal	Intestinal bleeding, Anal stenosis, Skin ulcer, Neoplasm of the rectum, Neoplasm of the liver, Ly...	ORPHA:424016
Phacoanaphylactic Uveitis	Red eye, Posterior uveitis, Panuveitis, Posterior synechiae of the anterior chamber, Keratitis, A...	ORPHA:209959
Leukonychia Totalis	Abnormal eyelash morphology, Blepharitis, Nephrolithiasis	ORPHA:2387
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerular cysts	OMIM:267010
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Horseshoe kidney, Atrioventricular canal defect, Splenomegaly, Aplasia of the epiglottis, Median ...	OMIM:617088
Bruck Syndrome 1	Ankle flexion contracture, Pterygium, Elbow flexion contracture, Hearing abnormality, Knee flexio...	OMIM:259450
Perlman Syndrome	Visceromegaly, Renal hamartoma, Nephroblastomatosis, Ascites, Large for gestational age, Cryptorc...	OMIM:267000
Fetal Akinesia Deformation Sequence	Camptodactyly of finger, Pterygium, Multiple joint contractures, Posteriorly rotated ears, Arthro...	ORPHA:994
Joubert Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu...	OMIM:610188
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Arteriosclerosis, Severe Juvenile	Chronic kidney disease	OMIM:208060
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Hypotriglyceridemia, Decreased circulating apolipoprotein B concentration, Foot osteomyelitis, Ac...	OMIM:256840
Ferguson-Bonni Neurodevelopmental Syndrome	High palate, Coronary-pulmonary artery fistula, Patent foramen ovale	OMIM:619699
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Failure to thrive, Decreased testicular size, Cryptorchidism, Increased bo...	ORPHA:398069
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Atresia of the external auditory canal, Unilateral external ear def...	OMIM:164210
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Optic neuropathy, Onion bulb formation	ORPHA:320375
Aromatase Deficiency	Tall stature, Obesity, Eunuchoid habitus, Cryptorchidism, Hepatic steatosis, Enlarged polycystic ...	ORPHA:91
Serotonin Syndrome	Acute kidney injury	ORPHA:43116
Grange Syndrome	Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve, Carotid artery stenosis, ...	OMIM:602531
Aspartylglucosaminuria	Abnormality of the dentition, Carious teeth, Aspartylglucosaminuria, Gingival overgrowth, Splenom...	ORPHA:93
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Vaginal atresia, Hypoplastic labia majora, Fused labia minora	OMIM:207410
Dyssegmental Dysplasia, Silverman-Handmaker Type	Low-set ears, Pterygium, Abnormal heart morphology, Developmental cataract, Flexion contracture, ...	ORPHA:1865
Insensitivity To Pain, Congenital, With Anhidrosis	Decreased number of small peripheral myelinated nerve fibers, Osteomyelitis, Keratitis	OMIM:256800
Neu-Laxova Syndrome	Cataract, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal mus...	ORPHA:2671
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Pyelonephritis, Bronchiectasis, Bladder diverticulum	ORPHA:90348
Bardet-Biedl Syndrome	Inflammation of the large intestine, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogona...	ORPHA:110
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micropenis, Septate vagina, Absent gallbladder, Uterus didelphys	OMIM:617925
Autosomal Recessive Omodysplasia	Pterygium, Low-set ears, Posteriorly rotated ears	ORPHA:93329
Abdominal Obesity-Metabolic Syndrome 3	Coronary artery stenosis, Increased LDL cholesterol concentration, Type II diabetes mellitus, Str...	OMIM:615812
Tetraamelia-Multiple Malformations Syndrome	Vaginal atresia, Cryptorchidism	ORPHA:3301
Apert Syndrome	Cryptorchidism, Hyperhidrosis, Vaginal atresia, Acne, Chronic otitis media	OMIM:101200
Juvenile Xanthogranuloma	Asymmetry of iris pigmentation, Hyphema, Multiple cafe-au-lait spots, Iritis, Myeloproliferative ...	ORPHA:158000
Fanconi Anemia	Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Renal insuffi...	ORPHA:84
Scorpion Envenomation	Erythema, Acute kidney injury, Ketonuria, Glycosuria, Purpura, Myocarditis, Acute pancreatitis	ORPHA:466677
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Facial paralysis, Demyelinating peripheral neuropathy, Decreased number of periphe...	ORPHA:99949
Manitoba Oculotrichoanal Syndrome	Vaginal atresia, Nasolacrimal duct obstruction	OMIM:248450
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease	ORPHA:2752
Cherubism	Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Narrow pala...	OMIM:118400
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Cranioectodermal Dysplasia 1	Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ...	OMIM:218330
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Adenocarcinoma of the colon, Multinodular goiter	OMIM:620189
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Cataract, Posteriorly rotated ears	OMIM:224410
Microphthalmia, Syndromic 2	Adrenal insufficiency, Septate vagina, Cryptorchidism, Hypothyroidism, Hypospadias, Patent ductus...	OMIM:300166
Bardet-Biedl Syndrome 1	Abnormality of the ovary, Decreased testicular size, Hypogonadism, Vaginal atresia, Micropenis	OMIM:209900
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis, Vesicoureteral reflux	OMIM:616580
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Generalized lymphadenopathy, Knee flexion contracture, Hip contracture	OMIM:620232
Bruck Syndrome	Pterygium, Arthrogryposis multiplex congenita	ORPHA:2771
Atrial Septal Defect, Coronary Sinus Type	Recurrent bacterial infections, Pneumonia	ORPHA:99104
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Costello Syndrome	Webbed neck, Renal insufficiency, Redundant neck skin	OMIM:218040
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Degcags Syndrome	Chronic kidney disease, Pneumonia, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal h...	OMIM:619488
Trichorhinophalangeal Syndrome, Type Ii	Recurrent pneumonia, Vomiting, Gastroesophageal reflux, Bilateral cryptorchidism, Recurrent otiti...	OMIM:150230
Atrial Septal Defect, Ostium Secundum Type	Recurrent bacterial infections, Pneumonia	ORPHA:99103
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Pterygium, Hypoplasia of the musculature, Joint contracture	OMIM:225790
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki...	OMIM:620305
Hereditary Sensory And Autonomic Neuropathy Type 4	Chronic kidney disease, Recurrent aspiration pneumonia, Septic arthritis, Fasciitis, Osteomyeliti...	ORPHA:642
Idiopathic Panuveitis	Red eye, Cataract, Posterior synechiae of the anterior chamber, Conjunctival hyperemia	ORPHA:280921
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Hypertyrosinemia, Lacticaciduria, Tubulointerstitial nephritis, Cholangitis	OMIM:124000
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Basal lamina onion bulb formation, Demyelinating peripheral neuropathy	ORPHA:2821
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Small scrotum, Imperforate hymen...	OMIM:181450
Exercise-Induced Malignant Hyperthermia	Dry skin, Acute kidney injury, Oliguria	ORPHA:466650
Chand Syndrome	Imperforate hymen, Hypohidrosis	ORPHA:1401
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Neu-Laxova Syndrome 1	Low-set ears, Cataract, Joint contracture of the hand, Renal agenesis, Pterygium, Patent foramen ...	OMIM:256520
Tetraamelia Syndrome 1	Absent external genitalia, Adrenal gland agenesis, Vaginal atresia, Asplenia, Hypoplasia of the f...	OMIM:273395
Fraser Syndrome 1	Abnormal cortical gyration, Clitoral hypertrophy, Cryptorchidism, Micropenis, Vaginal atresia, Bi...	OMIM:219000
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Delayed peripheral myelination	ORPHA:364577
Adams-Oliver Syndrome 1	Pachygyria, Polymicrogyria, Imperforate hymen, Supernumerary nipple	OMIM:100300
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis, Hy...	ORPHA:199
Waardenburg Syndrome, Type 1	Aplasia of the vagina	OMIM:193500
Townes-Brocks Syndrome 1	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureth...	OMIM:107480
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Hypospadias, Hematocolpos, Imperforate hymen, Cryptorchidism, Chordee, Hydrocele testis, Dysphagi...	OMIM:619522
Pituitary Dermoid And Epidermoid Cysts	Meningitis	ORPHA:91351
Sacral Defect With Anterior Meningocele	Meningitis, Neurogenic bladder, Urinary retention, Rectal abscess	OMIM:600145
Fraser Syndrome	Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Ambiguou...	ORPHA:2052
Sotos Syndrome	Renal agenesis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, P...	ORPHA:821
Floating-Harbor Syndrome	Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic ki...	ORPHA:2044
Hydranencephaly	Meningitis, Optic nerve hypoplasia	ORPHA:2177
Eisenmenger Syndrome	Bacterial endocarditis, Renal insufficiency	ORPHA:97214
Kyphomelic Dysplasia	Pterygium, Low-set ears	OMIM:211350
Vogt-Koyanagi-Harada Disease	Cataract, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vit...	ORPHA:3437
Pallister-Killian Syndrome	Small scrotum, Supernumerary nipple, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia maj...	OMIM:601803

Histopathology

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

There is no histopathology data for Fas

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fas.

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

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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