Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Colitis, Decreased specific pneumococcal antibody level, Podocyte foot proces... |
OMIM:617006 |
Young Syndrome |
|
Abnormality of the pancreas, Recurrent bronchitis, Recurrent sinopulmonary infections, Obstructiv... |
ORPHA:3471 |
Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis, ... |
OMIM:247800 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Thickened glomerular basement membrane, Hemolytic anemia, Acute kidney injury... |
OMIM:615008 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:610725 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Systemic lupus erythematosus, Nephrotic syndrome, Recurrent tonsillitis, Membranoproliferative gl... |
OMIM:613779 |
C1Q Deficiency |
|
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity |
OMIM:613652 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoi... |
OMIM:619375 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis |
OMIM:614650 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... |
OMIM:617609 |
Nephrotic Syndrome, Type 21 |
|
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... |
OMIM:618594 |
Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... |
OMIM:615244 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... |
OMIM:615861 |
Nephrotic Syndrome, Type 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... |
OMIM:256370 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... |
OMIM:616892 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Absent isohemagglutinin leve... |
OMIM:615559 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent otitis media, External genital hypoplasia, Rod-cone dystrophy, Re... |
OMIM:615993 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... |
ORPHA:656 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... |
ORPHA:567544 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... |
ORPHA:567548 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Young Syndrome |
|
Recurrent bronchitis, Bronchiectasis, Azoospermia, Recurrent sinopulmonary infections, Congenital... |
OMIM:279000 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria |
OMIM:611771 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level, Hematuria |
OMIM:314000 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
C3 Glomerulopathy 3 |
|
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:614809 |
Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... |
OMIM:619611 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis |
OMIM:249660 |
Oliver-Mcfarlane Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of penis, Small for gestational... |
OMIM:275400 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Systemic Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Leukopenia, Arthri... |
OMIM:152700 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Reversible renal failure, Non-caseating epithelioid cell granulomatosis, Anterior uve... |
OMIM:607665 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Diffuse mesangial sclerosis... |
OMIM:256300 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... |
ORPHA:133 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Abnormal circulating lipid concentration, Membranoproliferative glomeruloneph... |
OMIM:608709 |
Nephrotic Syndrome, Type 14 |
|
Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomeru... |
OMIM:617575 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Albuminuria, Proteinuria |
OMIM:618884 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Hypogonadism, Obesity, Cry... |
OMIM:615982 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Complement Component 4A Deficiency |
|
Glomerulonephritis, Systemic lupus erythematosus |
OMIM:614380 |
Pneumocystosis |
|
Chronic oral candidiasis, Hypoxemia, Multiple pulmonary cysts, Nonproductive cough, Respiratory i... |
ORPHA:723 |
Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... |
OMIM:618178 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Ob... |
ORPHA:399805 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... |
OMIM:619858 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... |
OMIM:618176 |
Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chr... |
OMIM:615573 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:613913 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, External genital hypoplasia, Rod-cone dystrophy |
OMIM:268010 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Anemia, Stage 5... |
OMIM:603278 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbumine... |
OMIM:600995 |
Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Glo... |
OMIM:617730 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, C3 nephritic factor positivity, Glomerular subendothe... |
ORPHA:54370 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Galloway-Mowat Syndrome 7 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in... |
OMIM:618348 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Arthritis, Cre... |
OMIM:616414 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... |
OMIM:601894 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... |
OMIM:603965 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Galactosemia I |
|
Increased level of galactitol in urine, Hepatomegaly, Aminoaciduria, Increased level of galactito... |
OMIM:230400 |
Hyperprolinemia Type 1 |
|
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria |
ORPHA:419 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Oligospermia, Obesity, Hepatic steatosis |
OMIM:615703 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Galloway-Mowat Syndrome 10 |
|
Podocyte foot process effacement, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidne... |
OMIM:619609 |
Nephrotic Syndrome, Type 24 |
|
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... |
OMIM:619263 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Autoimmune Hepatitis |
|
Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Jaundice, Inc... |
ORPHA:2137 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Red... |
OMIM:102700 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
Iga Nephropathy, Susceptibility To, 3 |
|
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... |
OMIM:616818 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Ar... |
OMIM:602390 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... |
OMIM:308990 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Elevated circulating C-reactive protein concentration, ... |
ORPHA:449395 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:613944 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... |
OMIM:614377 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis, Microscopic hematuria, Autoimmunity, Proteinuria, Glomerulopathy, Hepatic steatosis |
ORPHA:79087 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... |
OMIM:161900 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Bardet-Biedl Syndrome 2 |
|
External genital hypoplasia, Retinal degeneration, Rod-cone dystrophy, Diabetes mellitus, Obesity... |
OMIM:615981 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Lymphocytic interstitial pneumonia, Hepatomegaly, Splenomegaly, Recurrent otit... |
OMIM:618495 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Nephrotic syndrome, Eosinophilic liver infiltration, Hepatosplenomegaly, Eosinophilia, Atopic der... |
OMIM:618999 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pustule, Skin rash, Acute hepatic failure, Interstitial pneumonitis, Myocarditis, Cough, Elevated... |
ORPHA:139402 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Smooth muscle antibody positivity, Hepatosplenomegaly, Antineutrophil antibody posi... |
ORPHA:99931 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... |
OMIM:614196 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Ciliary Dyskinesia, Primary, 9 |
|
Recurrent otitis media, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Male ... |
OMIM:612444 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss |
ORPHA:141152 |
Spondylometaphyseal Dysplasia, Axial |
|
Retinal degeneration, Rod-cone dystrophy, Splenomegaly, Reduced sperm motility, Cone/cone-rod dys... |
OMIM:602271 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cholestasis, Conjugated hyperbilirubinemia, Prote... |
OMIM:620010 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619949 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Morm Syndrome |
|
Retinal dystrophy, Retinal atrophy, Truncal obesity, Micropenis |
ORPHA:75858 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility |
OMIM:108420 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria |
ORPHA:2613 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Nephropathy, Hematuria, Cholestasis, P... |
OMIM:105200 |
Ciliary Dyskinesia, Primary, 14 |
|
Bronchiectasis, Immotile sperm, Chronic bronchitis, Reduced sperm motility, Otitis media, Absent ... |
OMIM:613807 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Galloway-Mowat Syndrome 8 |
|
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... |
OMIM:618349 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm, Recurrent sinusitis, Recurrent otitis media, Bronchiectasis, Impaire... |
OMIM:618449 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Pauci-Immune Glomerulonephritis |
|
Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Arteritis, Macro... |
ORPHA:93126 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Immunodeficiency 91 And Hyperinflammation |
|
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Elevated circulating C-reactive... |
OMIM:619644 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Thrombocytop... |
OMIM:304790 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... |
OMIM:301006 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... |
OMIM:254900 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility, Cerebellar atrophy |
ORPHA:276183 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Rheumatoid factor positive,... |
ORPHA:3261 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Renal insufficiency |
OMIM:248760 |
Ciliary Dyskinesia, Primary, 34 |
|
Bronchiectasis, Immotile sperm, Absent central microtubular pair morphology of respiratory motile... |
OMIM:617091 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, H... |
ORPHA:84090 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia, Cerebellar atrophy |
OMIM:613909 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
Stt3B-Cdg |
|
Respiratory distress, Failure to thrive, Micropenis, Optic atrophy, Cerebellar atrophy, Cryptorch... |
ORPHA:370924 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Failure to thrive, Micropenis, Optic atrophy, Cerebellar atrophy, Cryptorch... |
OMIM:615597 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:616950 |
Ciliary Dyskinesia, Primary, 40 |
|
Reduced forced expiratory volume in one second, Infertility, Decreased nasal nitric oxide, Cough,... |
OMIM:618300 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... |
ORPHA:444463 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Hypophosphatemia, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... |
OMIM:104200 |
47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Increased serum testosterone level, Asthma, Congenital ... |
ORPHA:8 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Cough, Abnormal lung morphology, ... |
ORPHA:50251 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Nephrotic range proteinuria, Hypoproteinemia, Thickened glomerular basement m... |
OMIM:619155 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic lung disease, Abnormal... |
ORPHA:217563 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Chronic tubulointerstitial nephritis, Renal hypoplasia, Elevated circulating creati... |
OMIM:614376 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Autoimmunity, Nephritis, Arthritis |
OMIM:216950 |
Nephrotic Syndrome, Type 16 |
|
Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:617783 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:161950 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... |
OMIM:611555 |
Nephronophthisis 16 |
|
Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,... |
OMIM:615382 |
Ciliary Dyskinesia, Primary, 45 |
|
Chronic rhinitis, Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Immotile ... |
OMIM:618801 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:616893 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hepatomegaly, Splenomegaly, Hypogonadism |
OMIM:615234 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, Rheumatoid factor po... |
ORPHA:49041 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonad... |
OMIM:235200 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Proteinuria |
OMIM:189800 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Desquamative interstitial pneumonitis, Interstitial pneumoniti... |
OMIM:615952 |
48,Xxyy Syndrome |
|
Infertility, Apnea, Type II diabetes mellitus, Asthma, Hypoplasia of penis, Hypergonadotropic hyp... |
ORPHA:10 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Eczema, Decreased prealbumin level, Anti-thyroid peroxidase antibody positivity, Anti-... |
ORPHA:37042 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Hyperlipidemia, Macroscopic hematuria, Focal segmental glomerulosclerosis... |
ORPHA:567546 |
Actinic Prurigo |
|
Glomerulonephritis, Cheilitis, Pyoderma |
OMIM:174770 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephro... |
ORPHA:100024 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:99330 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616220 |
Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... |
OMIM:619773 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Infertility, Sinusitis, Otitis media, Ciliary dyskinesia, Bronchiectasis, A... |
OMIM:606763 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Small for gestational age, Abnormal r... |
ORPHA:70589 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Renal insufficie... |
OMIM:245900 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Ciliary Dyskinesia, Primary, 18 |
|
Respiratory insufficiency due to defective ciliary clearance, Immotile sperm, Absent outer dynein... |
OMIM:614874 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced sperm motility, Reduced forced vital capa... |
OMIM:619436 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia, Abnormal motor neuron morphology |
OMIM:613724 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Rheumatoid factor positive, Lymphadenopathy, Nephrotic syndrome, Smooth muscle anti... |
OMIM:603909 |
Ciliary Dyskinesia, Primary, 32 |
|
Infertility, Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress, Immotile cilia, R... |
OMIM:616481 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
48,Xyyy Syndrome |
|
Asthma, Primary gonadal insufficiency, Recurrent upper respiratory tract infections, Male hypogon... |
ORPHA:99329 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Infertility, Cough, Recurrent sinusitis, Bronchiectasis, Neonatal respiratory distress, Recurrent... |
OMIM:300991 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the hepatic vasculature, Abnormality of the kidney, Elevat... |
ORPHA:275555 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... |
ORPHA:93108 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Interstitial pneumonitis, Bronchiolitis, Ulcerative colitis, Recurrent sinopulmona... |
OMIM:614878 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Decreased glomerular fi... |
ORPHA:470 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follic... |
OMIM:601859 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
Thymoma |
|
Systemic lupus erythematosus, Rheumatoid arthritis, Aplastic anemia, Myositis, Ulcerative colitis... |
ORPHA:99867 |
Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Senior-Loken Syndrome 9 |
|
Rod-cone dystrophy, Macular degeneration, Cholestasis, Retinal dystrophy, Tubulointerstitial neph... |
OMIM:616629 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Obesity |
ORPHA:2183 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Cryptorchi... |
ORPHA:432 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Nephritis |
OMIM:614420 |
Maternal Uniparental Disomy Of Chromosome X |
|
Hepatic failure, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Gonadal tissue ... |
ORPHA:261519 |
Immunodeficiency 104 |
|
Hepatomegaly, Otitis media, Splenomegaly, Eczema, Chronic mucocutaneous candidiasis, Pneumonia, R... |
OMIM:608971 |
Galloway-Mowat Syndrome 9 |
|
Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chronic sinusiti... |
ORPHA:443811 |
Immunodeficiency 64 |
|
Decreased circulating IgG level, Increased circulating IgA level, Splenomegaly, Cervical lymphade... |
OMIM:618534 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Acne, Macroorchidism |
ORPHA:3000 |
Simple Cryoglobulinemia |
|
Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Viral hepatitis, Abnormality of the ki... |
ORPHA:91139 |
Cone-Rod Dystrophy 7 |
|
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy |
OMIM:603649 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Failure to thrive, Desquamative interstitial pneumonitis, Recurrent upper r... |
OMIM:263000 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen |
OMIM:136550 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Nephropathy, Focal segmental glo... |
OMIM:194080 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance... |
OMIM:615500 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Small for gestational age, Hypospadias, Dec... |
ORPHA:1916 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Abnormal pattern of respiration, Recurre... |
ORPHA:77260 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Anemia |
OMIM:602079 |
Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Arthritis, Autoimmunity, Renal insufficiency, Proteinuria, Glomerulopathy, Anemia |
ORPHA:375 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Female infertility, Anomalous pulmonary venous return, Recurrent otitis media... |
ORPHA:244 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Renal insufficiency, Hypercalcemia, Proteinuria, Glomerulopathy, Anemia |
ORPHA:2668 |
Ciliary Dyskinesia, Primary, 29 |
|
Infertility, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... |
OMIM:615872 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Jaundice |
OMIM:230350 |
Macular Dystrophy, Patterned, 3 |
|
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy |
OMIM:617111 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232220 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Hepatomegaly, Nephritis, Coombs-positive hemolytic ... |
OMIM:614034 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Chordee, Decreased response to growth hormone stimulation test, Retinal degeneration, Hypospadias... |
ORPHA:96179 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Immunodeficiency 48 |
|
Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Pneumonia, Recurrent respir... |
OMIM:269840 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Bronc... |
ORPHA:1303 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Retinal degeneration, Cone/cone-rod dystrophy, Optic atrophy, Diabetes mellitus, Cryptorchidism |
OMIM:249270 |
Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Splenomegaly, Cirrhosis, ... |
OMIM:613490 |
Schimke Immuno-Osseous Dysplasia |
|
Hyperlipidemia, Pancreatitis, Lymphopenia, Nephrotic range proteinuria, Nephropathy, Abnormal pro... |
ORPHA:1830 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Facial diplegia, Testicular atrophy, Respiratory distress, Cerebral atrophy, Hypo... |
OMIM:160900 |
Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Stargardt Disease 3 |
|
Macular dystrophy, Macular flecks, Macular atrophy |
OMIM:600110 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Splenomegaly |
ORPHA:231154 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... |
ORPHA:59181 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
OMIM:300200 |
Macular Dystrophy, Vitelliform, 2 |
|
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid |
OMIM:153700 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... |
ORPHA:60032 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... |
ORPHA:251004 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... |
ORPHA:839 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Usual interstitial pneumonia, Cirrhosis, Decreased DLCO, Cough, Exertion... |
OMIM:178500 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crazy paving pattern, Crackles, Acute infectious pneumonia, Respiratory fai... |
ORPHA:264675 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Lymphoid Interstitial Pneumonia |
|
Lymphocytic interstitial pneumonia |
OMIM:247610 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Retinal degeneration, Increased... |
OMIM:204500 |
Al Amyloidosis |
|
Increased circulating antibody level, Nephrotic syndrome, Hepatomegaly, Renal interstitial amyloi... |
ORPHA:85443 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration, Increased neuronal autofluorescent lipopigment |
OMIM:601780 |
Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chronic ki... |
OMIM:617729 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis |
OMIM:619428 |
Systemic Sclerosis |
|
Anti-centromere antibody positivity, Chronic kidney disease, Anti-topoisomerase I antibody positi... |
ORPHA:90291 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Recurrent otitis media, Immotile sperm, Chronic bronchitis, Abnormal axonemal organi... |
OMIM:613808 |
Cystic Echinococcosis |
|
Increased circulating antibody level, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia... |
ORPHA:400 |
Bardet-Biedl Syndrome 17 |
|
Retinal degeneration, Rod-cone dystrophy, Micropenis, Macular atrophy, Cone/cone-rod dystrophy, H... |
OMIM:615994 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Leukopenia, Mac... |
OMIM:617303 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Nephritis, Hematuria, Leukocyte inclusion bodies, Proteinuria, Giant... |
OMIM:153640 |
Ciliary Dyskinesia, Primary, 11 |
|
Chronic bronchitis, Reduced sperm motility, Abnormal central microtubular pair morphology of resp... |
OMIM:612649 |
Bothnia Retinal Dystrophy |
|
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... |
ORPHA:85128 |
Ciliary Dyskinesia, Primary, 19 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... |
OMIM:614935 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Retinal degeneration, Macular degeneration, Cerebral atrophy, Rod-cone dystrophy, Increased extra... |
OMIM:204200 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration, Cerebellar atrophy |
OMIM:614322 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... |
ORPHA:280679 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... |
OMIM:614897 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Perching Syndrome |
|
Respiratory distress, Rod-cone dystrophy |
OMIM:617055 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Complement Factor I Deficiency |
|
Recurrent skin infections, Recurrent urinary tract infections, Recurrent sinusitis, Renal insuffi... |
OMIM:610984 |
Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Cystic renal dysplasia, Cholestasis, Enlarged kidney, Hepatic fibrosis, Asplenia |
OMIM:615415 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... |
OMIM:300555 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Hypospadias, Failure to thrive |
OMIM:300934 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Female infertility, Respiratory insufficiency, Reduced forced vital capacity, ... |
OMIM:619518 |
Immunodeficiency 11 |
|
Recurrent respiratory infections, Pneumonia |
OMIM:615206 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Hematuria, Proteinuria, Microangiopathic hemolytic anemia, Lupus anticoagulan... |
ORPHA:93552 |
Bardet-Biedl Syndrome 1 |
|
Abdominal obesity, Asthma, Nephrogenic diabetes insipidus, Aganglionic megacolon, Retinal degener... |
OMIM:209900 |
48,Xxxy Syndrome |
|
Infertility, Asthma, Type II diabetes mellitus, Hypoplasia of penis, Recurrent respiratory infect... |
ORPHA:96263 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Cerebral atrophy, Retinal degeneration, Macular degeneration, Optic atrophy, Increased neuronal a... |
OMIM:256730 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy |
OMIM:605670 |
Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia, Proteinuria |
OMIM:618882 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... |
ORPHA:60033 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyper... |
OMIM:614470 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... |
OMIM:619466 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Ciliary Dyskinesia, Primary, 12 |
|
Chronic pulmonary obstruction, Immotile sperm, Reduced sperm motility, Abnormal central microtubu... |
OMIM:612650 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Macronod... |
OMIM:215250 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria, Mic... |
ORPHA:54057 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Diffuse Alveolar Hemorrhage |
|
Antiphospholipid antibody positivity, Leukocytosis, Antineutrophil antibody positivity, Rheumatoi... |
ORPHA:90060 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism, Cerebral cortical atrophy, Choroidal neovascularization, Macular degeneration |
ORPHA:404451 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Splenomegaly, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus... |
ORPHA:251066 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Azoospermia, Decreased response to growth hormone stimulation tes... |
OMIM:300845 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Cerebral atrophy, Retinal degeneration |
OMIM:616211 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Hepatomegaly, Prolonged neonatal jaundice, Splenome... |
OMIM:618892 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Failure to thrive, Hepatomegaly, External genital hypoplasia, Optic atrophy... |
ORPHA:329178 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Female infertility, Hypoplasia of the uterus |
OMIM:617442 |
Retinitis Pigmentosa 31 |
|
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy |
OMIM:609923 |
Ciliary Dyskinesia, Primary, 25 |
|
Infertility, Sinusitis, Chronic pulmonary obstruction, Recurrent sinusitis, Ciliary dyskinesia, B... |
OMIM:615482 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Nephropathy, Gout, Focal segmental glomerulosclerosis, Renal cyst, Hyperu... |
OMIM:617056 |
Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
Oculorenocerebellar Syndrome |
|
Nephropathy, Glomerular sclerosis |
OMIM:257970 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Immunodeficiency 23 |
|
Lymphopenia, Eosinophilia, Membranoproliferative glomerulonephritis, Rheumatoid factor positive, ... |
OMIM:615816 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Retinal Cone Dystrophy 1 |
|
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy |
OMIM:180020 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Infertility, Azoospermia, Diabetes insipidus |
ORPHA:1445 |
Bacterial Toxic-Shock Syndrome |
|
Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Septic arthritis,... |
ORPHA:36234 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Degeneration of anterior horn cells, Respiratory insufficiency, Abnormal an... |
ORPHA:1145 |
Familial Nasal Acilia |
|
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Abnormal re... |
ORPHA:922 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, B lymphocytopenia, Absence of lymph... |
ORPHA:277 |
Lcat Deficiency |
|
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... |
ORPHA:650 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Failure to thrive, Hepatic steatosis, Respiratory distress |
ORPHA:26792 |
Brucellosis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Rheumatoid factor positive, ... |
ORPHA:1304 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Cough, Abdominal situs inversus, Male infertility, Chronic sinusitis, Recurrent otitis media, Dec... |
OMIM:619607 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Increased circulating antibody level, Inflammatory abnormality of the ski... |
ORPHA:48435 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal degeneration |
OMIM:617879 |
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration |
|
Decreased response to growth hormone stimulation test, Retinal degeneration |
OMIM:225755 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Neuronal loss in central nervous system, Cerebral atrophy, Rod-cone dystrophy, Respiratory... |
OMIM:610127 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232200 |
Lymphatic Filariasis |
|
Nephrotic syndrome, Urethral obstruction, Orchitis, Abnormality of the kidney, Lymphadenitis, Hem... |
ORPHA:2035 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... |
OMIM:208540 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Rheumatoid factor positive, Microcytic anemia,... |
OMIM:618852 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ventilato... |
ORPHA:254864 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Male infertility |
OMIM:301077 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary amenorr... |
OMIM:612310 |
Primary Sjögren Syndrome |
|
Airway obstruction, Chronic active hepatitis, Vaginal dryness, Abnormal pulmonary interstitial mo... |
ORPHA:289390 |
Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia, Microscopic hematuria, Proteinuria |
OMIM:261100 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
49,Xxxxy Syndrome |
|
Infertility, Asthma, Type II diabetes mellitus, Hypoplasia of penis, Pulmonary embolism, Chronic ... |
ORPHA:96264 |
Galloway-Mowat Syndrome 5 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis |
OMIM:617731 |
Kennedy Disease |
|
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Retinitis Pigmentosa 32 |
|
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Infertility, Iridocyclitis, Type II diabetes mellitus, Pancreatitis, Delayed menarche, Parietal c... |
ORPHA:412057 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Chronic bronchitis, Nonproducti... |
ORPHA:79127 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Ambiguous genitalia, male, Bifid scrotum, Micropenis, Hypospadias, Unilater... |
OMIM:300219 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Cirrhosis, Interstitial pneumonitis, Pulmonary fibrosis |
OMIM:127550 |
Ciliary Dyskinesia, Primary, 13 |
|
Infertility, Absent inner dynein arms, Recurrent sinusitis, Recurrent bronchitis, Ciliary dyskine... |
OMIM:613193 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Anemia, Impaired renal uric acid cle... |
OMIM:174000 |
Cone-Rod Dystrophy 22 |
|
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... |
OMIM:619531 |
Myoglobinuria, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury |
OMIM:160010 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
Tyrosinemia, Type I |
|
Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Elevated alpha-fetoprotein, Cirrhosis, Hepa... |
OMIM:276700 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Ciliary Dyskinesia, Primary, 24 |
|
Infertility, Sinusitis, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis |
OMIM:615481 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance... |
OMIM:615444 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612926 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Abnormal circulating lipid concentration, Proteinuria, Renal insufficiency |
ORPHA:225 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormality of the endocrine system, Cerebral cortical atrophy, Abnormality of pattern visual evo... |
ORPHA:166035 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... |
ORPHA:228302 |
Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Eunuchoid habitus, Hy... |
ORPHA:91 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Abnormality of the kidney, Cirr... |
ORPHA:369 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rh... |
OMIM:209950 |
Mogs-Cdg |
|
Hydrocele testis, Absent brainstem auditory responses, Respiratory distress, Apnea, Hepatomegaly,... |
ORPHA:79330 |
Galloway-Mowat Syndrome 1 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:251300 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Recurrent bronchopulmonary infections, Macular degeneration |
ORPHA:85334 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Par... |
OMIM:240500 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Decreased body weight, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Hematuria, Arthritis, P... |
ORPHA:91138 |
Alg6-Cdg |
|
Failure to thrive, Jaundice, Retinal degeneration, Rod-cone dystrophy, Puberty and gonadal disord... |
ORPHA:79320 |
Glycogen Storage Disease Xi |
|
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... |
OMIM:612933 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Eczema, Neonatal death, Pulmonary arterial hypertension, Stillbirth |
OMIM:619751 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Rod-cone dystrophy, Irregular menstruation, Attenuation of retinal blood ve... |
OMIM:615986 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Erysipelas, Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Glycogen Storage Disease X |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... |
OMIM:256550 |
Ciliary Dyskinesia, Primary, 38 |
|
Infertility, Chronic otitis media, Cough, Chronic sinusitis, Bronchiectasis, Neonatal respiratory... |
OMIM:618063 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... |
ORPHA:1302 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... |
OMIM:619802 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency, Restrictive ventilatory defec... |
OMIM:614399 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Skin rash, Splenomegaly, Hematuria, Arthritis, Episcleritis, Uveitis, Autoimmunity,... |
ORPHA:36412 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Hepatomegaly, Jaundice, Cholestatic ... |
OMIM:613404 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Aminoaciduria, Elevated circulating long chain fatty acid concentration, Hypospadia... |
OMIM:214100 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... |
ORPHA:976 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... |
OMIM:607594 |
Myh9-Related Disease |
|
Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital thrombocytopenia, Increased mean ... |
ORPHA:182050 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... |
OMIM:608647 |
Best Vitelliform Macular Dystrophy |
|
Cystoid macular degeneration, Choroideremia |
ORPHA:1243 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenital thrombocyto... |
OMIM:618886 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... |
ORPHA:1652 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Failure to thrive, Choroideremia, Optic atrophy, Clitoral hypertrophy, Abno... |
ORPHA:2707 |
Acute Lung Injury |
|
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Acute pancreatitis, ... |
ORPHA:178320 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:361 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... |
OMIM:618913 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Galloway-Mowat Syndrome 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia |
OMIM:618347 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hemoglo... |
OMIM:194380 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Bloom Syndrome |
|