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Gene: Ccr1 MGI:104618

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

C-C motif chemokine receptor 1

Synonyms:

Cmkbr1

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 Ccr1 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 Ccr1 (1 diseases)
Human diseases predicted to be associated with Ccr1 (964 diseases)

The table below shows human diseases associated to Ccr1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Behçet Disease		Increased inflammatory response, Myositis, Pericarditis, Acne, Renal insufficiency, Glomerulopath...	ORPHA:117

The table below shows human diseases predicted to be associated to Ccr1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus	OMIM:613791
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport...	OMIM:618204
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p...	OMIM:312863
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br...	OMIM:608957
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thr...	OMIM:613496
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis	OMIM:619549
Immunodeficiency 18	Recurrent respiratory infections, Recurrent gastroenteritis, Recurrent otitis media, Decreased pr...	OMIM:615615
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur...	ORPHA:567544
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Immunodeficiency 48	Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur...	OMIM:269840
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Nephrotic syn...	OMIM:613779
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren...	OMIM:613953
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Dyspnea, Tachy...	OMIM:616414
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia, Recurrent infections	OMIM:614493
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 l...	OMIM:619773
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive...	OMIM:615559
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c...	OMIM:608709
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Systemic Lupus Erythematosus 16	Decreased circulating complement C3 concentration, Lupus nephritis, Decreased circulating complem...	OMIM:614420
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus, Recurrent i...	OMIM:613652
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c...	OMIM:613913
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio...	OMIM:615897
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se...	OMIM:617056
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Autoimmunity, Malabsorption, Recurrent infections, Recurrent in...	OMIM:137100
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Myelolymphatic Insufficiency	Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira...	OMIM:310350
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira...	ORPHA:656
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytope...	OMIM:226990
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Podocyte foot process effacement, Stage 5 chronic kidney disease, Th...	OMIM:619155
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk...	OMIM:619632
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Neonatal sepsis, Eosinophilia, Recurrent viral infections, Autoimmune thrombocytopenia, Decreased...	ORPHA:169154
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Combined Cellular And Humoral Immune Defects With Granulomas	Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt...	OMIM:233650
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi...	OMIM:619220
Complement Component 4A Deficiency	Glomerulonephritis, Reduced hemolytic complement activity, Decreased circulating complement C4 co...	OMIM:614380
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Immunodeficiency 50	Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level	OMIM:300988
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine...	OMIM:614455
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Complement Component C1R/C1S Deficiency	Autoimmunity, Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis	OMIM:216950
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,...	OMIM:266265
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Ciliary Dyskinesia, Primary, 41	Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis, Immotile sperm, Recurr...	OMIM:618449
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria	ORPHA:419
Atypical Hemolytic Uremic Syndrome	Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s...	ORPHA:2134
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Neonatal respiratory distress, Congenital nephrotic syndrome, Renal ...	OMIM:256300
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative...	OMIM:617638
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi...	OMIM:619858
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i...	OMIM:266600
Pauci-Immune Glomerulonephritis	Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Cough, ...	ORPHA:93126
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Immunodeficiency 91 And Hyperinflammation	Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophi...	OMIM:619644
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,...	ORPHA:319552
Severe Combined Immunodeficiency, X-Linked	Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent bacterial meningitis, Recur...	OMIM:300400
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Recurrent upper respiratory tract infections, Pneumonia, Abnormally low T cell...	OMIM:618806
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Pleuritis, Leukopenia, Malar rash, Ne...	OMIM:152700
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit...	OMIM:233710
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot...	OMIM:616941
Young Syndrome	Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec...	OMIM:279000
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt...	OMIM:613845
Microlissencephaly	Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen...	ORPHA:1083
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Increased circulating antibody level, Histiocytosis	OMIM:235900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Panhypogammaglobulin...	OMIM:601457
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A...	OMIM:619079
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Recurrent infection of the gastrointestinal tract, Autoimmunity	OMIM:609529
Drug-Induced Lupus Erythematosus	Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating creatine ki...	ORPHA:231111
Immunodeficiency, Common Variable, 1	Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen...	OMIM:607594
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Immunodeficiency 104	Eczema, Pneumonia, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Failure...	OMIM:608971
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase...	OMIM:304790
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit...	OMIM:233690
Linear Iga Dermatosis	Inflammation of the large intestine, Autoimmunity	ORPHA:46488
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, R...	ORPHA:449395
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ...	OMIM:619802
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneu...	ORPHA:178320
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of marginal zone B cel...	OMIM:619375
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen...	ORPHA:443811
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro...	OMIM:618348
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Recurrent abscess formation...	OMIM:260570
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu...	OMIM:615214
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni...	OMIM:618935
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased proport...	OMIM:615518
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Renal insufficiency, Mon...	ORPHA:91139
Ciliary Dyskinesia, Primary, 44	Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit...	OMIM:618781
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Eosinophilia, Pneumonia, Recurr...	ORPHA:911
Alport Syndrome	Mesangial hypercellularity, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depositi...	ORPHA:63
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Reni Syndrome	Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Mesangial hypercellu...	OMIM:617575
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral...	ORPHA:217390
Immunodeficiency 62	Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Bronc...	OMIM:618459
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Myocardial...	ORPHA:60033
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease...	ORPHA:859
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Immunodeficiency 23	Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, All...	OMIM:615816
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Recurrent skin infections, Hypercal...	ORPHA:94059
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, R...	OMIM:300635
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lympho...	ORPHA:99867
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Chronic oral candidias...	OMIM:212050
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Inflammation of the large intestine, Crohn's disease, Mucoid di...	OMIM:615767
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Immunodeficiency 37	Colitis, Infectious encephalitis, Recurrent infections	OMIM:616098
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent...	OMIM:612444
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Sepsis, Hypoxemia, Abnormal circulating interl...	ORPHA:70578
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S...	OMIM:620282
Autoimmune Hepatitis	Viral hepatitis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis, Thyroiditis, Ulcerative c...	ORPHA:2137
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Proteinuria, Recurrent bronchopulmonary i...	OMIM:617303
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi...	OMIM:243700
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near...	OMIM:614699
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Renal hypoplasia,...	OMIM:614376
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia...	ORPHA:470
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Sepsis, Leukopenia, Decreased circulating IgG ...	OMIM:301082
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari...	OMIM:300853
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, I...	ORPHA:37042
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, Nephrotic sy...	OMIM:618999
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re...	OMIM:615139
Neutropenia, Chronic Familial	Neutropenia, Periodontitis, Increased circulating antibody level	OMIM:162700
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Villous atrophy, Cholangitis, Recurrent vira...	OMIM:209920
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Impaired Ig class switch recombination, Recurrent upper respiratory tract infectio...	OMIM:608184
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Increased circulating IgM level, Recurrent bacterial infe...	OMIM:608106
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,...	ORPHA:540
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Arthritis, Increased circu...	ORPHA:69126
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen...	ORPHA:36234
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Recurrent urinary tract infections, Autoimmune hemolytic anemia...	OMIM:618495
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Hypoalbuminemia, Focal segmental glomerulosclerosis, Proteinuria	OMIM:618347
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pulmonary embolism, Respiratory tract infection, Minimal change glomerulonephritis, Hyperlipidemi...	ORPHA:567546
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Skin rash, Antinuclear antibody positivity, Colitis, Ileal ulcer, Lupus anticoa...	OMIM:616744
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Auto...	ORPHA:436159
Activated Pi3K-Delta Syndrome	Pneumonia, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis, Decreased ci...	ORPHA:397596
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi...	OMIM:615451
Preeclampsia/Eclampsia 1	Proteinuria, Thrombocytopenia	OMIM:189800
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG level, Parti...	OMIM:618986
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections...	OMIM:613493
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent herpes, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent candida infections, Recurr...	ORPHA:169160
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce...	ORPHA:158061
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas...	OMIM:612649
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Proteinuria, Epistaxis, Elev...	OMIM:614034
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin...	OMIM:619707
Immunodeficiency 19	Recurrent respiratory infections, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis...	OMIM:615617
Inflammatory Bowel Disease 11	Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain	OMIM:191390
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ...	OMIM:613500
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Idiopathic Pulmonary Hemosiderosis	Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Diffuse alveolar hemorrhage, Dys...	ORPHA:99931
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas...	ORPHA:3261
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Recurrent pneu...	OMIM:616576
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:603909
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi...	OMIM:615607
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Ciliary Dyskinesia, Primary, 39	Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp...	OMIM:618254
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, C...	ORPHA:98813
Immunodeficiency, Common Variable, 2	Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co...	OMIM:240500
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Proteinuria, Impaired T cell function, Minimal change glomerulonephritis, Abnormal l...	ORPHA:1830
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Decreased circulating complement C3 concentration, Lymphocytosis, Mi...	ORPHA:79087
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Renal insufficiency, Polyuria, Elevated circulating creatinine ...	OMIM:619468
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Schimke Immunoosseous Dysplasia	Renal insufficiency, Pancytopenia, Proteinuria, Abnormal immunoglobulin level, Dyspnea, Thrombocy...	OMIM:242900
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood u...	OMIM:620085
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:608644
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr...	OMIM:614069
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr...	OMIM:607426
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, ...	OMIM:274150
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Neutropenia	OMIM:616022
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Recurrent bac...	ORPHA:169079
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Selective Igm Deficiency	Recurrent staphylococcal infections, Paraproteinemia, Sepsis, Recurrent cutaneous fungal infectio...	ORPHA:331235
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Dyspnea, Hematuria, Microangiopathic hemolytic...	ORPHA:54057
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog...	ORPHA:251004
Cystic Echinococcosis	Multiple pulmonary cysts, Pulmonary cyst, Abscess, Eosinophilia, Asthma, Renal cyst, Membranous n...	ORPHA:400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Hepatitis, Systemic lupus...	ORPHA:444463
X-Linked Immunoneurologic Disorder	Recurrent respiratory infections, Decreased circulating IgG2 level, Functional abnormality of the...	ORPHA:2571
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615500
Scedosporiosis	Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni...	ORPHA:449280
Amyloidosis, Familial Visceral	Skin rash, Proteinuria, Splenomegaly, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Cholangitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cho...	ORPHA:183675
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Proteinuria, Decreased circulating complement...	ORPHA:90060
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Respiratory insufficiency, Hematuria, Arthritis...	ORPHA:375
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Decreased DLCO, Glycosuria, Aminoaciduria, Pulmonary...	OMIM:618913
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:612650
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec...	OMIM:617091
Immunodeficiency 11A	Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased...	OMIM:615206
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Decreased circulating complement factor B concentration, Hemolytic-uremi...	OMIM:235400
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointe...	ORPHA:340
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Liver abscess, Osteomyelit...	OMIM:306400
Tracheobronchomegaly	Recurrent bronchopulmonary infections, Bronchiectasis	OMIM:275300
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis...	OMIM:618394
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br...	OMIM:300991
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Igg4-Related Aortitis	Increased inflammatory response, Elevated circulating C-reactive protein concentration, Increased...	ORPHA:449400
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn...	OMIM:608647
Immunodeficiency 56	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo...	OMIM:615207
Mu-Heavy Chain Disease	Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Increased circulating antibody leve...	ORPHA:100024
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Decreased cir...	OMIM:215250
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Deep dermal perivascular inflammatory infiltrate, Psorias...	ORPHA:49041
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s...	ORPHA:347
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Recurrent infections, Colitis, Anoperineal fistula, Recurrent sinusitis...	OMIM:613960
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt...	OMIM:601859
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi...	OMIM:618108
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody le...	OMIM:615285
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren...	ORPHA:275
Idiopathic Achalasia	Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia	ORPHA:930
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Knee osteoarthr...	ORPHA:1304
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c...	ORPHA:276
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Skin rash, Pneumonia, Proteinuria, Elevated circulating creatinine concentrati...	ORPHA:247691
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Recur...	OMIM:232240
Immunodeficiency 76	Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis	OMIM:619164
Ige Responsiveness, Atopic	Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Immunodeficiency 61	Recurrent respiratory infections, Decreased circulating IgG4 level, Agammaglobulinemia, Arthritis...	OMIM:300310
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Immunodeficiency 43	Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa...	OMIM:241600
Glycogen Storage Disease Ib	Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclero...	OMIM:232220
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Increased mean platelet volum...	ORPHA:182050
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration...	OMIM:620010
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615505
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez...	OMIM:613808
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect...	OMIM:611884
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT...	OMIM:233450
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Acute pancreatitis, Pericarditis, Renal insufficiency, Chilblains, Proteinuria,...	OMIM:619487
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Abnormal lun...	ORPHA:2035
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Ly...	OMIM:102700
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Tubuloint...	ORPHA:289390
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C...	OMIM:618048
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Anemia	ORPHA:2668
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit...	OMIM:615481
Immunodeficiency 96	Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-delta T cells, Decreased circ...	OMIM:619774
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Pachygyria, Polymicrogyria, Aspiration pneumonia	OMIM:609528
Boutonneuse Fever	Renal insufficiency, Skin rash, Maculopapular exanthema, Increased circulating IgG level, Respira...	ORPHA:83313
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Asthma, Recurrent pneumonia, Increased circulating IgE le...	OMIM:619752
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Pleuritis, Erysipelas	OMIM:134610
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule...	ORPHA:839
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove...	ORPHA:723
Purine Nucleoside Phosphorylase Deficiency	Increased circulating inosine concentration, Recurrent urinary tract infections, Sinusitis, Hypou...	OMIM:613179
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c...	OMIM:308240
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria	ORPHA:225
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Increased cir...	OMIM:618282
Glycogen Storage Disease Ia	Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Hyperuric...	OMIM:232200
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,...	ORPHA:26790
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:276621
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Rhinorrhea, ...	OMIM:613807
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD...	OMIM:619846
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Eleva...	OMIM:178500
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea...	OMIM:614700
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c...	ORPHA:275555
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M...	ORPHA:83471
Aspergillosis	Sinusitis, Neutropenia, Cough, Infectious encephalitis, Abnormality of the kidney, Chronic pulmon...	ORPHA:1163
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Elevated circulating creatinine concentration, Decreased ...	OMIM:223900
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr...	OMIM:300555
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur...	OMIM:619824
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i...	OMIM:307200
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis	OMIM:620032
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Le...	ORPHA:3392
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula...	OMIM:617765
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula...	ORPHA:3243
Immunodeficiency 92	Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor...	OMIM:619652
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ...	OMIM:618987
Indolent Systemic Mastocytosis	Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto...	ORPHA:98848
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Sinusitis, Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recu...	ORPHA:277
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi...	OMIM:214500
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Immunodeficiency 65, Susceptibility To Viral Infections	Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections	OMIM:618648
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv...	ORPHA:2968
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Recurrent respiratory infections, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestina...	OMIM:243150
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Functional abnormality of the bladder	OMIM:300076
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Dyspnea, Splenomegaly,...	ORPHA:36412
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au...	OMIM:616100
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c...	OMIM:615482
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria,...	ORPHA:536
Tempi Syndrome	Transudative pleural effusion, Abnormality of the kidney, Hypoxemia, Increased circulating IgG le...	ORPHA:284227
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Immunodeficiency 70	Furuncle, Decreased circulating total IgG, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti...	OMIM:613470
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Ciliary Dyskinesia, Primary, 45	Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis	OMIM:618801
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Cr...	OMIM:123550
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr...	ORPHA:90117
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Abnormal pleura morphology, Myocard...	ORPHA:549
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615444
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Recurrent candida infections, T ly...	ORPHA:572
Oligomeganephronia	Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Glomerul...	ORPHA:2260
Idiopathic Pulmonary Fibrosis	Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f...	ORPHA:2032
Immunodeficiency 110 With Lymphoproliferation	Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio...	OMIM:614868
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis	ORPHA:88643
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ...	OMIM:610910
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ...	OMIM:614878
Eosinophilopenia	Allergic rhinitis, Autoimmunity	OMIM:131430
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre...	OMIM:242700
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Myositis, Lymphopenia, Skin rash, Elevated circulating C-reacti...	OMIM:615934
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria, Megaloblastic anemia	OMIM:261100
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:29072
Dopamine Beta-Hydroxylase Deficiency	Dyspnea, Elevated urinary dopamine level, Elevated circulating creatinine concentration, Anemia, ...	ORPHA:230
Paroxysmal Nocturnal Hemoglobinuria	Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, He...	ORPHA:447
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Sp...	OMIM:614470
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir...	OMIM:617388
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Immunodeficiency 46	Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Co...	OMIM:616740
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:614679
Neonatal Alloimmune Neutropenia	Pneumonia, Severe infection, Meningitis, Sepsis	ORPHA:464370
Pediatric Systemic Lupus Erythematosus	Dark urine, Lymphopenia, Myositis, Renal insufficiency, Skin rash, Proteinuria, Discoid lupus ras...	ORPHA:93552
Pseudo-Torch Syndrome 3	Apnea, Proteinuria, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Re...	OMIM:618886
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ...	OMIM:614172
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn...	OMIM:616307
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Elevated circulating ...	ORPHA:90291
Majeed Syndrome	Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Proteinuria, Congenita...	ORPHA:77297
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Antinuclear antibody positivity, Recurrent pneumonia, Bloody diarrhea, Recurrent infec...	OMIM:617718
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Cardiac conduction abnormality, Pneumonia, Respiratory...	ORPHA:97244
Asthma, Short Stature, And Elevated Iga	Asthma, Increased circulating IgA level	OMIM:208600
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Lymphopenia, Eczema, Oligoarthritis, Decreased circulating tota...	OMIM:619510
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal...	ORPHA:167
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid...	OMIM:617092
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
46,Xy Sex Reversal 4	Renal dysplasia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Re...	OMIM:154230
Glycogen Storage Disease V	Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:232600
Renal Hypoplasia, Bilateral	Hyponatremia, Neonatal respiratory distress, Proteinuria, Chronic kidney disease, Hyperkalemia, R...	ORPHA:97362
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve...	OMIM:618523
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Cryoglobulinemic Vasculitis	Viral hepatitis, Renal insufficiency, Glomerulopathy, Proteinuria, Circulating immune complexes, ...	ORPHA:91138
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy...	ORPHA:562639
Glycogen Storage Disease Xi	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie...	OMIM:601495
Wiskott-Aldrich Syndrome	Sepsis, Iron deficiency anemia, Absent microvilli on the surface of peripheral blood lymphocytes,...	OMIM:301000
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron...	OMIM:604571
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:619603
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I...	OMIM:603585
Cednik Syndrome	Nephrotic syndrome, Proteinuria	ORPHA:66631
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli...	OMIM:619705
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Impair...	OMIM:308230
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Shock, Pneumonia, Nonproductive cough, Severe infection, Tachypnea, Dyspnea...	ORPHA:36238
Immunodeficiency 77	Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic pulmonary obstru...	OMIM:619223
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Recurrent skin...	OMIM:620210
Galactosemia I	Hemolytic anemia, Increased level of galactitol in plasma, Aminoaciduria, Albuminuria, Galactosur...	OMIM:230400
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec...	OMIM:618131
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Sterile pyuria, Renal i...	ORPHA:91500
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria, Anemia	ORPHA:1192
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration	OMIM:616239
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i...	OMIM:232800
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstruction, Panacinar emphysema, Bronch...	OMIM:613490
Melioidosis	Shock, Brain abscess, Unusual skin infection, Foot osteomyelitis, Lung abscess, Pneumonia, Respir...	ORPHA:31202
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne	OMIM:604416
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
C1Q Deficiency 2	Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi...	OMIM:620321
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular...	OMIM:613404
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Chronic...	OMIM:242860
Ciliary Dyskinesia, Primary, 16	Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin...	OMIM:614017
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrh...	ORPHA:183
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Tyrosinemia, Type I	Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Sple...	OMIM:276700
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Hyperuricemia, Ve...	ORPHA:261222
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Al Amyloidosis	Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t...	ORPHA:85443
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ...	OMIM:613193
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Asthma, Chronic myelomonocyt...	ORPHA:90280
Cocaine Intoxication	Respiratory distress, Pulmonary edema, Proteinuria, Glomerulonephritis, Elevated circulating crea...	ORPHA:90068
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ...	ORPHA:158684
Pemphigus Vulgaris	Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Autoimmunity, Recurrent i...	ORPHA:704
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Atelectasis...	ORPHA:2902
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici...	OMIM:614935
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic ...	OMIM:616005
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi...	OMIM:616037
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Renal insu...	OMIM:614748
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Riddle Syndrome	Pneumonia, Elevated circulating alpha-fetoprotein concentration, Bronchitis, Neonatal asphyxia, R...	ORPHA:420741
Gaucher Disease Type 1	Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Abnorma...	ORPHA:77259
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Colitis, Recurrent sinusitis	OMIM:613101
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Increased circulating interleukin 6 concentration, Hyperkalemia, Hypocalcemia, Abno...	ORPHA:544482
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Hypouricemia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Hypoph...	OMIM:616026
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Celiac disease, R...	OMIM:615952
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Skin rash, Pneumonia, Proteinuria, Increased circulatin...	ORPHA:2298
Netherton Syndrome	Recurrent respiratory infections, Skin rash, Eczema, Ectopic kidney, Asthma, Increased circulatin...	ORPHA:634
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:301050
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess,...	OMIM:301074
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Immunodeficiency 12	Skin rash, Recurrent viral infections, Bronchiectasis, Cheilitis, Recurrent bacterial infections,...	OMIM:615468
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Immunodeficiency 40	Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can...	OMIM:616433
Pyoderma Gangrenosum	Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine	ORPHA:48104
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R...	ORPHA:264675
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in...	ORPHA:505248
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei...	ORPHA:449427
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Autoimmunity, Recurrent infections	ORPHA:703
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Neonatal respiratory distress, Stage 5 chronic kidney disease, Nephr...	OMIM:194080
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Recurrent infections, Reduced spe...	OMIM:615434
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper respiratory tract i...	OMIM:602450
Free Sialic Acid Storage Disease	Splenomegaly, Recurrent respiratory infections, Nephrotic syndrome, Proteinuria	ORPHA:834
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia...	ORPHA:331206
Leiomyomatosis, Diffuse, With Alport Syndrome	Tracheobronchial leiomyomatosis, Renal insufficiency, Proteinuria, Glomerular basement membrane l...	OMIM:308940
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis	OMIM:611943
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,...	ORPHA:486
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise...	ORPHA:368
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria, Uveitis, Conjunctivitis, Increased blood urea nitrogen, Anemia	ORPHA:90321
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Asthma, Recurrent pneumonia, Recurrent viral upper respiratory tract inf...	OMIM:615577
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt...	ORPHA:284426
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri...	OMIM:227810
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma...	ORPHA:2688
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C...	ORPHA:900
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Neutropenia, Decreased proportion...	ORPHA:101096
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abno...	ORPHA:79124
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Proteinuria, Abnormality of the kidney	ORPHA:369
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th...	OMIM:137920
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cells, Increased ...	OMIM:256550
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Recurrent to...	ORPHA:2686
Gitelman Syndrome	Respiratory distress, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypermagnes...	ORPHA:358
Immunodeficiency 22	Pericarditis, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased ...	OMIM:615758
Paroxysmal Cold Hemoglobinuria	Recurrent respiratory infections, Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobin...	ORPHA:90035
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta...	OMIM:251300
Q Fever	Respiratory distress, Cholecystitis, Cough, Infectious encephalitis, Maculopapular exanthema, Hep...	ORPHA:781
Immunodeficiency 68	Abscess, Sepsis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Trichohepatoenteric Syndrome 2	Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis	OMIM:614602
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse...	ORPHA:79127
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Hypospadias, Bronchiectasis, Hyperammonemia, Respiratory insufficiency, Aspiration pneumon...	OMIM:618253
Orthostatic Hypotension 1	Hypomagnesemia, Nocturia, Increased blood urea nitrogen	OMIM:223360
Carnitine Palmitoyltransferase Ii Deficiency	Neonatal respiratory distress, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:157
Immunodeficiency 67	Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf...	OMIM:607676
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Cholangitis, Increased circulating IgG4 level, Abnormality of the kidney, Eo...	ORPHA:449432
Prolidase Deficiency	Eczema, Hyperimidodipeptiduria, Thrombocytopenia, Asthma, Recurrent pneumonia, Crusting erythemat...	OMIM:170100
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Cough, Dyspnea, Hepatitis, Th...	ORPHA:139402
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Genetic Recurrent Myoglobinuria	Dark urine, Myositis, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuri...	ORPHA:99845
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Neonatal respiratory distress, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating c...	ORPHA:228308
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Cough, Morbilli...	ORPHA:228123
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper...	ORPHA:713
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Tubulointerstitial ne...	OMIM:603860
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu...	ORPHA:228119
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplen...	ORPHA:98850
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Sjogren Syndrome	Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar...	OMIM:270150
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re...	OMIM:620197
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting	OMIM:616809
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Leukopenia, Rhiniti...	ORPHA:507
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs...	ORPHA:35078
Timothy Syndrome	Prolonged QT interval, Pneumonia, Bronchitis, Ventricular tachycardia, Atrioventricular block, Re...	OMIM:601005
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle wea...	OMIM:220110
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Recurrent skin infections, Proteinuria, Tubul...	ORPHA:33001
Omenn Syndrome	Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Nephrotic syndrome, Erythroderm...	ORPHA:39041
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, E...	OMIM:616050
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o...	ORPHA:324964
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L...	OMIM:618213
Melas	Proteinuria, Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Recurrent pan...	ORPHA:550
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, Renal tubular d...	ORPHA:436271
Netherton Syndrome	Recurrent respiratory infections, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, I...	OMIM:256500
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat...	ORPHA:79126
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona...	ORPHA:1164
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Recurrent pneumoni...	ORPHA:508533
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Abnormal...	ORPHA:70588
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent Aspergillus infections, Autoimmune hemolytic anemia, Antiphospholipid antibody positivi...	ORPHA:391487
Shigellosis	Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Sepsis, Uv...	ORPHA:810
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid...	OMIM:300653
Wild Type Attr Amyloidosis	Renal insufficiency, Proteinuria, Abnormal pulmonary interstitial morphology, Nephrotic syndrome,...	ORPHA:330001
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ...	ORPHA:793
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo...	OMIM:620296
Pemphigus Erythematosus	Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Relapsing Polychondritis	Uveitis, Conjunctivitis, Cough, Chondritis, Glomerulopathy, Atelectasis, Hepatitis, Scleritis, Ab...	ORPHA:728
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Myoglobinuria, Acute kid...	ORPHA:57
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Diarrhea, Chronic or...	OMIM:615387
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Highly elevated creatine kinase, Reduced vital capacity, Exercise-induced myoglobinuria	ORPHA:352479
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Hypokalemia, Aminoaciduria, Hypophos...	ORPHA:213
Esophagitis, Eosinophilic, 2	Vomiting, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Vomiting, Esophagitis, Dysphagia	OMIM:610247
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact...	ORPHA:169090
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k...	ORPHA:79408
Mast Cell Sarcoma	Mastocytosis, Splenomegaly	ORPHA:66661
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Increased mean corpu...	OMIM:194380
Lymphangiectasia, Intestinal	Lymphopenia, Decreased circulating IgG level, Neonatal hypoproteinemia	OMIM:152800
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmalonic aciduria,...	OMIM:275350
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Unconjugated hyperbili...	OMIM:300908
Gaucher Disease Type 3	Recurrent respiratory infections, Pancytopenia, Proteinuria, Thrombocytopenia, Splenomegaly, Abno...	ORPHA:77261
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Thrombocytopenia, Peritonitis, Leukocytosis, Elevated circ...	ORPHA:90038
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Hypoalbuminemia,...	OMIM:212065
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme...	OMIM:146255
Rift Valley Fever	Skin rash, Thrombocytopenia, Hepatitis, Uveitis, Hematuria, Increased circulating IgM level, Incr...	ORPHA:319251
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C...	OMIM:244400
Yellow Nail Syndrome	Recurrent respiratory infections, Renal neoplasm, Sinusitis, Dyspnea, Nephropathy, Bronchiectasis...	ORPHA:662
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, B lymphocytopenia, Bone marrow hypocellul...	OMIM:301078
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating creatinine concentration,...	ORPHA:542323
Bloom Syndrome	Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-p...	ORPHA:125
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, Dyspnea, Highly...	OMIM:251900
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen...	ORPHA:94093
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonar...	OMIM:612387
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Abnormal circulating carnitine concentration, Renal tubular acidosis, Organic aciduria, Aspiratio...	ORPHA:431361
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Proteinuria, Autoimmune thromboc...	ORPHA:1855
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tubulointerstitial fibrosis...	ORPHA:79259
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kinase concentrat...	OMIM:201475
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,...	OMIM:618849
Iga Pemphigus	Neutrophilic infiltration of the skin, Pustule, Autoimmune antibody positivity, Ulcerative coliti...	ORPHA:555905
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Hypoalbuminemia, Hyperbili...	OMIM:613070
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportion...	OMIM:606367
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent...	ORPHA:85436
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Keratitis, Dyspne...	ORPHA:1018
Wilson Disease	Hemolytic anemia, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypourice...	OMIM:277900
Dyskeratosis Congenita, Autosomal Recessive 8	Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture	OMIM:620133
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Chronic diarrhea, Esophageal varix, Recurrent infections	OMIM:614576
Renal Hypodysplasia/Aplasia 1	Renal dysplasia, Bilateral renal agenesis, Proteinuria, Pulmonary hypoplasia	OMIM:191830
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Respiratory insufficiency due to muscle weak...	ORPHA:18
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:98895
Renal Agenesis	Renal insufficiency, Proteinuria, Renal agenesis, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Bro...	OMIM:619381
Alagille Syndrome 1	Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal h...	OMIM:118450
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic infection, Atelectasis, Dyspnea, C...	ORPHA:2357
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee...	ORPHA:79128
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Urethral stricture, Increased circulating interleukin 8 concentration, Recurrent pneumonia, Bronc...	OMIM:301220
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Orchitis, Urinary bladder ...	ORPHA:556
Vici Syndrome	Decreased circulating IgG level, Recurrent respiratory infections, Ureteral atresia, Renal tubula...	ORPHA:1493
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urinary tract infections, Decre...	ORPHA:221139
Paroxysmal Nocturnal Hemoglobinuria 2	Dyspnea, Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Reactive Arthritis	Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhe...	ORPHA:29207
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Abnormali...	ORPHA:2552
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Pneumonia, Right ventricular failure, Dyspnea, Nonproductive cough, Asth...	ORPHA:97287
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Recurrent bacterial infect...	OMIM:615895
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea...	OMIM:620300
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega...	OMIM:260920
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:617099
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis	OMIM:615190
Roifman-Chitayat Syndrome	Arthritis, Pneumonia, Ectopic kidney	OMIM:613328
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,...	ORPHA:811
Fabry Disease	Renal insufficiency, Proteinuria, Urinary mulberry cells, Anemia, Lipiduria, Airway obstruction	OMIM:301500
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Nocardiosis	Respiratory distress, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, Emphysema, Meni...	ORPHA:31204
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	OMIM:609015
Graft Versus Host Disease	Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ta...	ORPHA:39812
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Elevated circulating creatine kinase concentration, Dyspnea, Leukopenia, My...	OMIM:255125
Primary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Reduced propo...	ORPHA:90362
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Abnormal circulating fatty-acid concentration, Renal Fanconi syndrome, Glycosuria, H...	ORPHA:263455
Familial Mediterranean Fever	Pericarditis, Skin rash, Proteinuria, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Nephro...	ORPHA:342
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Orchitis, Pustule, Hem...	ORPHA:761
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia...	OMIM:208500
Ogden Syndrome	Global glomerulosclerosis, Apnea, Eczema, Thrombocytopenia, Pulmonary artery stenosis, Pulmonary ...	OMIM:300855
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Increased circulating IgG level, Leukopenia, ...	ORPHA:99827
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Gamma-Heavy Chain Disease	Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmun...	ORPHA:100026
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Arthritis, ...	OMIM:617591
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Hypochromic microcytic anemia, Mild proteinuria, H...	OMIM:619147
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Hemoglobinuri...	ORPHA:244242
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Arima Syndrome	Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, Hematuria, Renal corti...	OMIM:243910
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228305
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:119
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ...	OMIM:603554
Glycogen Storage Disease Xii	Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hemoglobinur...	OMIM:611881
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Alpha-Mannosidosis, Adult Form	Hepatosplenomegaly, Pancytopenia, Pneumonia, Oligosacchariduria	ORPHA:309288
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Subcorneal Pustular Dermatosis	Pustule, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:48377
Fanconi Anemia, Complementation Group F	Pneumonia, Thrombocytopenia, Renal hypoplasia, Leukopenia, Microphallus, Bone marrow hypocellular...	OMIM:603467
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein...	ORPHA:449563
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology	ORPHA:398189
Glycogen Storage Disease Ixd	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:300559
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Neonatal asphyxia, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Osteootohepatoenteric Syndrome	Proteinuria, Asthma, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bile acid conce...	OMIM:619377
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Neutropenia, Restrictiv...	OMIM:607944
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria	ORPHA:86818
Wiskott-Aldrich Syndrome	Recurrent respiratory infections, Sinusitis, Autoimmunity, Eczema, Keratitis, Hematemesis, Chroni...	ORPHA:906
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Tick-Borne Encephalitis	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis, Increased ...	ORPHA:297
Acquired Generalized Lipodystrophy	Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Abnormality of complement system, Pannicul...	ORPHA:79086
Congenital Disorder Of Glycosylation, Type Iiw	Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia, Thrombocytope...	OMIM:619525
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ...	ORPHA:533
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastroint...	ORPHA:79404
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Increased c...	OMIM:615846
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Reduced force...	OMIM:607155
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Hermansky-Pudlak Syndrome 1	Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain	OMIM:203300
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv...	OMIM:158310
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ...	ORPHA:67
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfac...	ORPHA:60025
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Dyspnea, Hyperlipidemia, Chronic pulmonary obst...	ORPHA:324
Ddost-Cdg	Nephrotic range proteinuria	ORPHA:300536
Ataxia-Telangiectasia	Lymphopenia, Sinusitis, Recurrent bronchitis, Elevated circulating alpha-fetoprotein concentratio...	OMIM:208900
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena...	ORPHA:411629
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c	OMIM:619127
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost...	ORPHA:95430
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Anti...	OMIM:619573
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr...	ORPHA:71212
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Neonatal respiratory distress, Recurrent aspiration pneumonia, Abnormal...	ORPHA:79243
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis...	ORPHA:534
Gaucher Disease	Pancytopenia, Osteomyelitis, Proteinuria, Elevated circulating C-reactive protein concentration, ...	ORPHA:355
Sarcoidosis, Susceptibility To, 1	Hypercalciuria, Abnormality of T cell physiology, Pancytopenia, Iridocyclitis, Dyspnea, Splenomeg...	OMIM:181000
Kawasaki Disease	Pericarditis, Skin rash, Proteinuria, Myocarditis, Recurrent pharyngitis, Leukocytosis, Hepatitis...	ORPHA:2331
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Restrictive ventilatory defect, Pneumonia, Elevated circulating creatine kinase concentration	OMIM:253700
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia	OMIM:266120
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Hypokalemia, Respiratory failure, Acute ...	ORPHA:330021
Cholera	Hyponatremia, Abnormality of renal excretion, Tachypnea, Abnormal blood ion concentration, Hypoka...	ORPHA:173
Alg12-Cdg	Hyponatremia, Recurrent respiratory infections, Hypospadias, Partial absence of specific antibody...	ORPHA:79324
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Respiratory ...	ORPHA:98905
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Thrombocytopenia, Hyperkalemia, Le...	OMIM:617053
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ...	ORPHA:86816
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic...	ORPHA:2614
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria	OMIM:619685
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Elevated circulating creat...	ORPHA:26793
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Tubuloi...	ORPHA:79078
Igg4-Related Thyroid Disease	Increased circulating IgG4 level, Thyroiditis, Sclerosing cholangitis, Hypocalcemia, Hashimoto th...	ORPHA:64744
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Rec...	ORPHA:293978
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Cornelia De Lange Syndrome 1	Hypospadias, Pneumonia, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re...	OMIM:122470
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Plague	Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem...	ORPHA:707
Agel Amyloidosis	Proteinuria, Respiratory tract infection, Stage 5 chronic kidney disease, Keratoconjunctivitis si...	ORPHA:85448
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Intestinal malrotation, Abdom...	ORPHA:436252
Pheochromocytoma	Renal artery stenosis, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171300
Ohdo Syndrome	Proteinuria	OMIM:249620
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul...	OMIM:619708
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ...	ORPHA:71272
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:612300
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Pearson Syndrome	Reticulocytosis, Renal insufficiency, Pancytopenia, Proteinuria, Hypomagnesemia, Thrombocytopenia...	ORPHA:699
Malignant Hyperthermia Of Anesthesia	Hypercapnia, Myoglobinuria, Tachypnea, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase ...	ORPHA:423
Renal Nutcracker Syndrome	Proteinuria, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia	ORPHA:71273
Bardet-Biedl Syndrome 20	Proteinuria, Asthma, Hypercholesterolemia, Micropenis, Pancreatitis	OMIM:619471
Sepsis In Premature Infants	Neonatal sepsis, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Fun...	ORPHA:90051
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ...	ORPHA:2908
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopen...	ORPHA:227990
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Peroxisome Biogenesis Disorder 1A (Zellweger)	Neonatal respiratory distress, Hypospadias, Aminoaciduria, Albuminuria, Pulmonary hypoplasia, Ele...	OMIM:214100
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ketonuria, Lacticaciduria, Aspiration pneumonia	OMIM:619167
Thrombocytopenia 1	Epistaxis, Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased me...	OMIM:313900
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Episodic tachypnea, Aspiration pneumonia	ORPHA:79264
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Proteinuria	OMIM:192315
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Renal tub...	ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en...	ORPHA:264580
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine...	OMIM:616878
Primary Sclerosing Cholangitis	Acute hepatic failure, Recurrent systemic pyogenic infections, Cholangiocarcinoma, Autoimmunity, ...	ORPHA:171
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,...	ORPHA:309031
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopen...	ORPHA:227982
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure	ORPHA:331
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Atelectasis, L...	OMIM:618278
Chronic Thromboembolic Pulmonary Hypertension	Antiphospholipid antibody positivity, Osteomyelitis, Autoimmunity, Inflammation of the large inte...	ORPHA:70591
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Recurrent pneumonia, Anemia, Decreased circulating total IgM, Decreased circulating...	OMIM:612301
Martin-Probst Syndrome	Renal insufficiency, Pancytopenia, Proteinuria, Chordee, Micropenis	OMIM:300519
Xfe Progeroid Syndrome	Renal insufficiency, Hypoalbuminemia, Proteinuria	OMIM:610965
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria	OMIM:222448
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Cough, Abnormal...	ORPHA:95455
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Bloom Syndrome	Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Bronchiectasis, Malar rash...	OMIM:210900
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Heart murmur	ORPHA:1867
Say-Barber-Miller Syndrome	Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased circulating antib...	ORPHA:3132
Syndromic Diarrhea	Villous atrophy, Gastritis, Hepatoblastoma, Bloody diarrhea, Recurrent infections, Colitis, Intra...	ORPHA:84064
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Lissencephaly Due To Lis1 Mutation	Anterior predominant thick cortex pachygyria, Aspiration pneumonia, Pachygyria, Posterior predomi...	ORPHA:95232
Chops Syndrome	Splenomegaly, Vesicoureteral reflux, Anomalous pulmonary venous return, Horseshoe kidney, Aspirat...	OMIM:616368
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdominal pain, Feeding difficulties i...	ORPHA:3260
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Acute respiratory distress syndrome, Severe B lymphocytopenia, Thr...	OMIM:620005
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:206549
Hyperlipoproteinemia, Type Id	Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormality of cytokine secretion, Abnormal circul...	ORPHA:567983
Wagro Syndrome	Nephroblastoma, Proteinuria	OMIM:612469
Cryptococcosis	Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Prost...	ORPHA:1546
Hennekam-Beemer Syndrome	Mastocytosis, Pneumonia, Respiratory insufficiency	ORPHA:2135
Liver Disease, Severe Congenital	Chronic gastritis, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Cough, Elevated hepati...	OMIM:619991
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Gastroesophageal reflux, Esophagitis, Feeding difficulties	ORPHA:79350
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th...	ORPHA:454831
Alström Syndrome	Respiratory distress, Urinary incontinence, Functional abnormality of the bladder, Otitis media, ...	ORPHA:64
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia, Cough	ORPHA:216866
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent respiratory infections, Renal insufficiency, Apnea, Hypospadias, Tachypnea, Renal corti...	ORPHA:397715
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Urinary glycosaminoglycan excretion, Aspiration...	ORPHA:79255
Hereditary Hyperekplexia	Gastroesophageal reflux, Esophagitis, Hiatus hernia	ORPHA:3197
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Cystic Fibrosis	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop...	OMIM:219700
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Proteinuria, Abnormality of the spleen, Respiratory insufficie...	ORPHA:2162
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Dyspnea, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increased mean ...	OMIM:127550
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Asthma, Moderate albuminuria, Periodontitis, Hydronephrosis	OMIM:619269
Degcags Syndrome	Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Hypospadias, Congenital hypoplast...	OMIM:619488
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Chronic otitis media, Hydronephrosis	ORPHA:2750
Infantile Neuroaxonal Dystrophy	Apneic episodes in infancy, Aspiration pneumonia	ORPHA:35069
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Esophageal Atresia	Recurrent respiratory infections, Barrett esophagus, Intestinal malrotation, Feeding difficulties...	ORPHA:1199
Gm1 Gangliosidosis	Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti...	ORPHA:354
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Pustule, Respiratory tract infection, Intrarenal abscess, Granuloma, Infect...	ORPHA:68
Mucopolysaccharidosis, Type Vi	Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Dermatan sulfate excretion...	OMIM:253200
Turner Syndrome Due To Structural X Chromosome Anomalies	Autoimmunity, Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, ...	ORPHA:99413
Mosaic Monosomy X	Autoimmunity, Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, ...	ORPHA:99228
Monosomy X	Autoimmunity, Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, ...	ORPHA:99226
Turner Syndrome	Autoimmunity, Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, ...	ORPHA:881
Diamond-Blackfan Anemia 7	Recurrent otitis media, Esophagitis, Cleft palate, Recurrent infections	OMIM:612562
Gaucher Disease, Type Ii	Apnea, Thrombocytopenia, Splenomegaly, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumo...	OMIM:230900
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Respiratory tract infection, Heparan sulfate excretion in uri...	ORPHA:581
Alpha-Mannosidosis, Infantile Form	Recurrent urinary tract infections, Pancytopenia, Pneumonia, Hepatosplenomegaly, Oligosaccharidur...	ORPHA:309282
Aymé-Gripp Syndrome	Pericarditis, Proteinuria	ORPHA:1272
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Viss Syndrome	Chronic gastritis, Eczema, Dyspnea, Asthma, Increased circulating IgE level, Pneumothorax, Atopic...	OMIM:619472
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit...	ORPHA:904
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia, Mitral regurgitation	OMIM:617809
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Penile hypospadias, Recurrent aspiration pneumonia	ORPHA:73230
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Urinary incontinence, Hypopnea, Restrictive ventilatory defect, Aspiratio...	OMIM:619482
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla...	ORPHA:280633
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat...	ORPHA:99885
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia, Pneumonia	ORPHA:90790
Orofaciodigital Syndrome I	Proteinuria, Polycystic kidney dysplasia	OMIM:311200
Cockayne Syndrome B	Splenomegaly, Renal insufficiency, Micropenis, Proteinuria	OMIM:133540
Cockayne Syndrome A	Splenomegaly, Renal insufficiency, Micropenis, Proteinuria	OMIM:216400
Microgastria-Limb Reduction Defect Syndrome	Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist...	ORPHA:2538
Fumarase Deficiency	Necrotizing enterocolitis, Hepatic failure, High palate	OMIM:606812
Frontometaphyseal Dysplasia 2	Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha...	OMIM:617137
Adult-Onset Autosomal Dominant Leukodystrophy	Urinary urgency, Recurrent urinary tract infections, Urinary retention, Aspiration pneumonia	ORPHA:99027
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Aspiration pneumonia, Hepatosplenomegaly	ORPHA:845
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Ast...	ORPHA:353281
Combined Oxidative Phosphorylation Deficiency 25	Aspiration pneumonia	OMIM:616430
Opitz Gbbb Syndrome	Hypospadias, Tracheomalacia, Stridor, Abnormality of the urinary system, Vesicoureteral reflux, R...	ORPHA:2745
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis...	ORPHA:913
Coffin-Siris Syndrome	Recurrent upper respiratory tract infections, Hypospadias, Aspiration pneumonia, Horseshoe kidney	ORPHA:1465
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Asthma, Vesicoureteral reflux, Horseshoe kidney, Aspiration pneumonia, Tracheomalaci...	ORPHA:444077
Marshall-Smith Syndrome	Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Pulmonary art...	OMIM:602535
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia, Aspiration pneumonia, Seborrheic dermatitis	OMIM:301072
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Abn...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Abn...	ORPHA:353277
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Pmm2-Cdg	Respiratory distress, Pericarditis, Proteinuria, Reduced thyroxin-binding globulin, Nephrotic syn...	ORPHA:79318
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Recurrent respiratory infections, Moderate albuminuria	OMIM:614231
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Nephrolithiasis, Aspiratio...	ORPHA:438213
Doors Syndrome	Respiratory distress, Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnorm...	ORPHA:79500
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Hypertriglyceridemia, Hypospadias, Pneumonia, Long penis, Hypop...	OMIM:264090
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Chronic kidney disease, Abnormality of humoral immunity, Septi...	ORPHA:642
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria	OMIM:616682
Niemann-Pick Disease Type C	Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato...	ORPHA:646
Kabuki Syndrome 1	Hemolytic anemia, Crossed fused renal ectopia, Autoimmune thrombocytopenia, Micropenis, Recurrent...	OMIM:147920
Mowat-Wilson Syndrome	Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ...	ORPHA:2152
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Renal insufficiency, Glomerulopath...	ORPHA:117
Alobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia	ORPHA:220386
Yunis-Varon Syndrome	Pulmonary arterial hypertension, Micropenis, Hypospadias, Aspiration pneumonia	OMIM:216340

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 Ccr1

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 Ccr1.

No publications found that use IMPC mice or data for Ccr1.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Ccr1^{em1(IMPC)Ccpcz}	Whole-gene deletion	Mice

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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