Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmunity, Increased ... |
OMIM:617006 |
Young Syndrome |
|
Recurrent sinopulmonary infections, Obstructive azoospermia, Decreased fertility, Abnormality of ... |
ORPHA:3471 |
Systemic Lupus Erythematosus 16 |
|
Perinuclear antineutrophil antibody positivity, Anti-dsDNA antibody positivity, Lupus nephritis, ... |
OMIM:614420 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Podocyte foot process effacement, Minimal change glomeru... |
OMIM:619201 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Increased circulating antibody level, Plasmacytosis, Autoimmune hemolytic ane... |
OMIM:247800 |
Immunodeficiency, Common Variable, 6 |
|
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Autoimmune t... |
OMIM:613496 |
Nephrotic Syndrome, Type 7 |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic anemia, Hemolytic-ure... |
OMIM:615008 |
C3 Glomerulopathy 3 |
|
Microscopic hematuria, Glomerulonephritis, Glomerular C3 deposition, Stage 5 chronic kidney disea... |
OMIM:614809 |
Nephrotic Syndrome, Type 3 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc... |
OMIM:610725 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent tonsillitis, Renal insufficiency, Nephrotic syndrome, Recurrent pneumonia, Membranoprol... |
OMIM:613779 |
C1Q Deficiency 1 |
|
Autoimmunity, Systemic lupus erythematosus, Membranoproliferative glomerulonephritis |
OMIM:613652 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Autoimmunity, Acute kidney injury, Anti-d... |
ORPHA:567544 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Glomerulonephritis, Anti-dsDNA antibody po... |
OMIM:619375 |
Partial Chromosome Y Deletion |
|
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... |
ORPHA:1646 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... |
OMIM:617960 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Steroid-resistant... |
OMIM:617609 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
Focal Segmental Glomerulosclerosis 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit... |
OMIM:256020 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ... |
OMIM:614650 |
Spermatogenic Failure 48 |
|
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility |
OMIM:619108 |
Nephrotic Syndrome, Type 21 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Podocyte foot process effac... |
OMIM:618594 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility |
OMIM:619145 |
Nephrotic Syndrome, Type 10 |
|
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Podocyte foot process ef... |
OMIM:615861 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmunity, Hepatomegaly, Reduced natural killer cell activity, Anticardiolipin IgG antibody po... |
OMIM:615559 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
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 |
Nephrotic Syndrome, Type 16 |
|
Minimal change glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome |
OMIM:617783 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Renal insufficiency, Glomerulonephritis, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic ki... |
ORPHA:656 |
Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... |
ORPHA:98797 |
Young Syndrome |
|
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Azoospermia, Bronch... |
OMIM:279000 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:619828 |
Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, External genital hypoplasia, Hypogonadism, Retinal degeneration... |
OMIM:615993 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Proteinuria, Acute kidney injury, Abnormal circulating lipid concentration, Diffuse ... |
ORPHA:567548 |
Polycystic Kidney Disease 5 |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... |
OMIM:617610 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro... |
OMIM:614196 |
Isochromosomy Yq |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... |
ORPHA:98798 |
Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Proteinuria, Glomerulopathy, Renal insufficiency |
OMIM:611771 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... |
OMIM:610913 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Hypoxemia, Usual interstitial pneumonia, Respiratory failu... |
OMIM:610921 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Thrombocytopenia, Hematuria, Glomerulonephritis |
OMIM:314000 |
Nephrotic Syndrome, Type 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Chronic kidney disease,... |
OMIM:615244 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... |
OMIM:616730 |
Interstitial Lung Disease 1 |
|
Dyspnea, Intralobular septal thickening, Decreased DLCO, Restrictive ventilatory defect, Cough, I... |
OMIM:619611 |
C3 Glomerulopathy |
|
Proteinuria, Acute kidney injury, Autoimmunity, C3 nephritic factor positivity, Chronic kidney di... |
ORPHA:329918 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome |
OMIM:249660 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Oliver-Mcfarlane Syndrome |
|
Delayed puberty, Small for gestational age, Cryptorchidism, Pigmentary retinopathy, Decreased res... |
OMIM:275400 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619712 |
Systemic Lupus Erythematosus |
|
Malar rash, Leukopenia, Hemolytic anemia, Nephritis, Lupus nephritis, Arthritis, Thrombocytopenia... |
OMIM:152700 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Proteinuria, Abnormal circulating lipid concentration, Nephrotic syndrome, Membranoproliferative ... |
OMIM:608709 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella |
OMIM:617593 |
Nephrotic Syndrome, Type 14 |
|
Proteinuria, Micropenis, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Lymphopenia... |
OMIM:617575 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619515 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... |
ORPHA:488191 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Dyspnea, Abnormal respiratory system physiology, Reduc... |
ORPHA:133 |
Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:617965 |
Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... |
OMIM:301059 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... |
OMIM:616002 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Proteinuria, Renal tubular atrophy, Diffuse mesangial sclerosis, Renal insuffici... |
OMIM:256300 |
Spermatogenic Failure 54 |
|
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... |
OMIM:619379 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Increased circulating antibody... |
OMIM:615285 |
Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, External genital hypoplasia, Hypogonadism, Retinal degeneration, Rod-cone dystrop... |
OMIM:615982 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Pneumocystosis |
|
Dyspnea, Interstitial pneumonitis, Respiratory insufficiency, Hypoxemia, Nonproductive cough, Chr... |
ORPHA:723 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... |
OMIM:614131 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis, Focal segmental glomeruloscler... |
OMIM:615573 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... |
OMIM:620084 |
Complement Component 4A Deficiency |
|
Glomerulonephritis, Systemic lupus erythematosus |
OMIM:614380 |
Nephrotic Syndrome, Type 18 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:301028 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Abn... |
ORPHA:399805 |
Focal Segmental Glomerulosclerosis 8 |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Renal tubular atrophy, Hyperuricemia, Chronic kidney disease, Anemia, Focal segmenta... |
OMIM:613092 |
Spermatogenic Failure 39 |
|
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... |
OMIM:618643 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
Autoinflammatory-Pancytopenia Syndrome |
|
Hepatosplenomegaly, Proteinuria, Cholestatic liver disease, Hemophagocytosis, Granuloma, Hepatic ... |
OMIM:619858 |
Ring Chromosome Y Syndrome |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... |
ORPHA:261529 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Membranoproliferative glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:613913 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Nephrotic Syndrome, Type 17 |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... |
OMIM:618176 |
Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy, External genital hypoplasia |
OMIM:268010 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hepatosplenomegaly, Renal interstitial fibrosis, Hepatocellular carcinoma, Jaundice, Enlarged kid... |
OMIM:619902 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyperlipidemia, Focal segmental ... |
OMIM:600995 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia, Failure to thrive |
OMIM:245590 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... |
ORPHA:529970 |
Primary Membranoproliferative Glomerulonephritis |
|
Microscopic hematuria, Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, C3 nephr... |
ORPHA:54370 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Crescentic glomerulonephritis, Arthritis, Mesangial hypercellularity, Elevated circulating C-reac... |
OMIM:616414 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Proteinuria, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, ... |
OMIM:618348 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephroti... |
OMIM:601894 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:614822 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:620196 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrotic syndrome, Focal se... |
OMIM:603965 |
Hyperprolinemia Type 1 |
|
Hyperprolinemia, Proteinuria, Nephropathy, Prolinuria |
ORPHA:419 |
Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Galactosemia I |
|
Hemolytic anemia, Galactosuria, Hypergalactosemia, Albuminuria, Increased level of galactitol in ... |
OMIM:230400 |
Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Galloway-Mowat Syndrome 10 |
|
Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process effacement, Diffuse mesangial ... |
OMIM:619609 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility |
OMIM:619689 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Hepatic steatosis, Oligospermia, Obesity |
OMIM:615703 |
Nephrotic Syndrome, Type 24 |
|
Podocyte foot process effacement, Focal segmental glomerulosclerosis, Renal cortical hyperechogen... |
OMIM:619263 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:137950 |
Galloway-Mowat Syndrome 4 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Foc... |
OMIM:617730 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:612997 |
Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Anemia, Reduced renal corticomedullary differentiati... |
OMIM:603278 |
Spermatogenic Failure 51 |
|
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... |
OMIM:619177 |
Focal Segmental Glomerulosclerosis 5 |
|
Microscopic hematuria, Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney di... |
OMIM:613237 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
Autoimmune Hepatitis |
|
Anti-liver cytosolic antigen type 1 antibody positivity, Fulminant hepatitis, Antinuclear antibod... |
ORPHA:2137 |
Premature Ovarian Failure 2B |
|
Female infertility, Premature ovarian insufficiency, Primary amenorrhea |
OMIM:300604 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercel... |
OMIM:616818 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Hepatomegaly, B lymphocytopenia, Reduced red cell adenosine... |
OMIM:102700 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Neonatal respiratory distress, Chronic otitis media, Recurrent respiratory infections, Cough, Dec... |
OMIM:300991 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria |
OMIM:607832 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Arthritis, Cirrhosis, Infertility, Splenomegaly, Azoospermia, Hypogonadotropic hypo... |
OMIM:602390 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis |
OMIM:613944 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Microscopic hematuria, Renal tubular atrophy, Hypophosphatemia, Nephrocalcinosis, Glycosuria, Bet... |
OMIM:308990 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Hepatic cysts, Stage 5 chron... |
OMIM:614377 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Renal Failure, Progressive, With Hypertension |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephriti... |
OMIM:161900 |
Acquired Partial Lipodystrophy |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Autoimmunity, Lymphocytosis, Hepatic steatosis |
ORPHA:79087 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
Bardet-Biedl Syndrome 2 |
|
External genital hypoplasia, Hypogonadism, Diabetes mellitus, Retinal degeneration, Rod-cone dyst... |
OMIM:615981 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Eosin... |
OMIM:618999 |
Hyperprolactinemia |
|
Oligomenorrhea, Female infertility, Menorrhagia |
OMIM:615555 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Glomerulonephritis, Rheumatoid factor positive, Antineutrophil antibody posit... |
ORPHA:99931 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Lymphocytic interstitial pneumonia, Hepatomegaly, Failure to th... |
OMIM:618495 |
Spermatogenic Failure 5 |
|
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility |
OMIM:243060 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Azoospermia, Oligospermia, Male infertility |
OMIM:108420 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Acute hepatic failure, Dyspnea, Tubulointerstitial nephritis, Skin rash, Cough, Elev... |
ORPHA:139402 |
Immunodeficiency 40 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:616433 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619949 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Abnormal uri... |
ORPHA:730 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Aspiration pneumonia, Respiratory distress, Upper airway obstruction, Weight loss |
ORPHA:141152 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria, Jaundice, Cholestasis, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperbilirubinem... |
OMIM:620010 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Chronic otitis media, Chronic sinusitis, Cough, Chronic rhinitis, ... |
OMIM:612444 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Restrictive ventilatory defect, Retinal degeneration, Splenomegaly, Recu... |
OMIM:602271 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:619044 |
Nail-Patella-Like Renal Disease |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:2613 |
Pauci-Immune Glomerulonephritis |
|
Microscopic hematuria, Proteinuria, Cytoplasmic antineutrophil antibody positivity, Glomeruloneph... |
ORPHA:93126 |
Igg4-Related Kidney Disease |
|
Chronic sinusitis, Increased circulating IgG4 level, Inflammatory abnormality of the skin, Enlarg... |
ORPHA:449395 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Skin rash, Cholestasis, Nephropathy, Hepatomegaly, Nephrotic syndrome, Hematuria, Sp... |
OMIM:105200 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Spermatogenic Failure 3 |
|
Reduced sperm motility, Male infertility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Reduced sperm motility, Male infertility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Reduced sperm motility, Male infertility |
OMIM:619380 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerulonephriti... |
OMIM:301006 |
Ciliary Dyskinesia, Primary, 41 |
|
Immotile sperm, Infertility, Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Impaire... |
OMIM:618449 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... |
ORPHA:399808 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic sinusitis, Wheezing, Abn... |
OMIM:613807 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Anemia, Autoimmune thrombocytopenia, Increased circulating IgE level, Neutrop... |
OMIM:304790 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... |
ORPHA:93109 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
Spermatogenic Failure 77 |
|
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... |
OMIM:620103 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Maculopapular exanthema, Hemophagocytosis, Hemolytic-uremic syndrome, Renal i... |
OMIM:619644 |
Spermatogenic Failure 15 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:616950 |
Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins... |
OMIM:310468 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmunity, Decreased specific anti-polysaccharide antibody level, Rheumatoid factor positive, ... |
ORPHA:3261 |
Fibronectin Glomerulopathy |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abno... |
ORPHA:84090 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
Spinocerebellar Ataxia 32 |
|
Infertility, Azoospermia, Testicular atrophy, Cerebellar atrophy |
OMIM:613909 |
Ciliary Dyskinesia, Primary, 40 |
|
Chronic sinusitis, Cough, Chronic rhinitis, Reduced forced expiratory volume in one second, Decre... |
OMIM:618300 |
Stt3B-Cdg |
|
Cryptorchidism, Micropenis, Failure to thrive, Respiratory distress, Small scrotum, Optic atrophy... |
ORPHA:370924 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Immotile sperm, Chronic rhinitis, Decreased nasal nitric oxide, Ab... |
OMIM:617091 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Hypoproteinemia, Stage 5 chronic kidney disease, Thickened glomerular base... |
OMIM:619155 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Micropenis, Failure to thrive, Respiratory distress, Small scrotum, Optic atrophy... |
OMIM:615597 |
Morm Syndrome |
|
Retinal dystrophy, Truncal obesity, Micropenis, Retinal atrophy |
ORPHA:75858 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increase... |
ORPHA:8 |
Pleural Mesothelioma |
|
Dyspnea, Abnormal respiratory system physiology, Cough, Abnormal pleura morphology, Hepatomegaly,... |
ORPHA:50251 |
Alport Syndrome 3, Autosomal Dominant |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Hypophosphatemia, Stage 5 chronic kidney ... |
OMIM:104200 |
Interstitial Nephritis, Karyomegalic |
|
Renal interstitial fibrosis, Proteinuria, Renal tubular cyst, Stage 5 chronic kidney disease, Tub... |
OMIM:614817 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:620049 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Pulmonary arterial hypertension, Tachypnea, Spontaneous neonatal p... |
ORPHA:217563 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmunity, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphop... |
ORPHA:444463 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Ciliary Dyskinesia, Primary, 18 |
|
Neonatal respiratory distress, Immotile sperm, Chronic bronchitis, Respiratory insufficiency due ... |
OMIM:614874 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Decreased motor nerve conduction velocity, Hypergonadotropic hypogonadism |
OMIM:613724 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice |
OMIM:206400 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria, Thrombocytopenia |
OMIM:189800 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... |
OMIM:611555 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligomenorrhea, Delayed puberty, Abnormal sperm morphology, Decreased testicular size, Testicular... |
ORPHA:52901 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614376 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Thrombocytopenia, Hematuria |
ORPHA:2134 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis |
OMIM:161950 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Decreased nasal nitric oxide, Short sperm flagella, Chronic cou... |
OMIM:620197 |
Igg4-Related Retroperitoneal Fibrosis |
|
Deep dermal perivascular inflammatory infiltrate, Rheumatoid factor positive, Ureteropelvic junct... |
ORPHA:49041 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Chronic kidney disease, Macroscopic hematu... |
ORPHA:567546 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... |
OMIM:618349 |
Complement Component C1R/C1S Deficiency |
|
Nephritis, Discoid lupus rash, Autoimmunity, Arthritis |
OMIM:216950 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Nephronophthisis 16 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Cholestasis, Renal ... |
OMIM:615382 |
Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... |
OMIM:618433 |
Ciliary Dyskinesia, Primary, 45 |
|
Recurrent respiratory infections, Chronic rhinitis, Bronchiectasis, Male infertility, Immotile ci... |
OMIM:618801 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circula... |
OMIM:614455 |
Hemochromatosis, Type 1 |
|
Hepatocellular carcinoma, Testicular atrophy, Pleural effusion, Diabetes mellitus, Hepatomegaly, ... |
OMIM:235200 |
Actinic Prurigo |
|
Cheilitis, Glomerulonephritis, Pyoderma |
OMIM:174770 |
Bronchopulmonary Dysplasia |
|
Small for gestational age, Dyspnea, Abnormal respiratory system physiology, Atelectasis, Cough, P... |
ORPHA:70589 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hepatosplenomegaly, Desquamative interstitial pneumonitis, Recurrent lower respiratory tract infe... |
OMIM:615952 |
48,Xxyy Syndrome |
|
Chronic otitis media, Decreased testicular size, Cryptorchidism, Recurrent respiratory infections... |
ORPHA:10 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczematoid dermatitis, Autoimmunity, Inflammatory abnormality of the skin, Insulin receptor antib... |
ORPHA:37042 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... |
OMIM:229070 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy |
OMIM:182690 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
49,Xyyyy Syndrome |
|
Decreased testicular size, Eunuchoid habitus, External genital hypoplasia, Primary gonadal insuff... |
ORPHA:99330 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Increased circulating antibody level, Anemia, Nep... |
ORPHA:100024 |
Nephronophthisis 2 |
|
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... |
OMIM:602088 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Proteinuria, Nephropathy |
ORPHA:2820 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Respiratory distress, Recurrent viral pneumonia, Respiratory fa... |
OMIM:619773 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Eczema, Chronic mucocutaneous candidiasis, Chronic oral candidi... |
OMIM:613953 |
Asherman Syndrome |
|
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Metrorrhagia, Infertility, Abnormal... |
ORPHA:137686 |
Ciliary Dyskinesia, Primary, 2 |
|
Recurrent respiratory infections, Infertility, Respiratory distress, Sinusitis, Bronchiectasis, I... |
OMIM:606763 |
48,Xyyy Syndrome |
|
Primary gonadal insufficiency, Acne, Azoospermia, Recurrent upper respiratory tract infections, M... |
ORPHA:99329 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Infertility, Bronchi... |
OMIM:615872 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Recurrent otitis media, Recurrent pneumonia, Redu... |
OMIM:619436 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Proteinuria, Hemolytic anemia, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholester... |
OMIM:245900 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... |
OMIM:228300 |
Senior-Loken Syndrome 9 |
|
Hypogonadism, Tubulointerstitial nephritis, Cholestasis, Obesity, Macular degeneration, Hepatic f... |
OMIM:616629 |
Lysinuric Protein Intolerance |
|
Oroticaciduria, Hemophagocytosis, Hyperlysinuria, Decreased glomerular filtration rate, Hyperalan... |
ORPHA:470 |
Macular Degeneration, Age-Related, 13 |
|
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar |
OMIM:615439 |
Preeclampsia |
|
Abnormality of the hepatic vasculature, Proteinuria, Abnormality of the kidney, Autoimmunity, Acu... |
ORPHA:275555 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased proportion of HLA DR+ T cells, Rheumatoid factor positive, Hepatomegaly, Increased circ... |
OMIM:603909 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Acute kidney injury, Chronic kidney disease, Enlarged kid... |
ORPHA:85445 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Ulcerative colitis, Bronchiolitis, Enterocolitis, Interstitia... |
OMIM:614878 |
Galloway-Mowat Syndrome 9 |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis |
OMIM:619603 |
Thymoma |
|
Glomerulonephritis, Autoimmunity, Aplastic anemia, Pure red cell aplasia, Leukemia, Anti-acetylch... |
ORPHA:99867 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Renal Dysplasia |
|
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
Primary Ciliary Dyskinesia |
|
Chronic otitis media, Recurrent sinopulmonary infections, Chronic sinusitis, Atelectasis, Aspleni... |
ORPHA:244 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... |
OMIM:618086 |
Immunodeficiency 104 |
|
Failure to thrive secondary to recurrent infections, Hepatomegaly, Recurrent otitis media, Pneumo... |
OMIM:608971 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... |
ORPHA:432 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased proportion of HLA DR+ T cells, Rheumatoid factor positive, Hepatomegaly, Increased circ... |
OMIM:601859 |
Pgm3-Cdg |
|
Chronic otitis media, Chronic sinusitis, Autoimmunity, Hemolytic anemia, Decreased proportion of ... |
ORPHA:443811 |
Maternal Uniparental Disomy Of Chromosome X |
|
Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Gonadal tissue inappropriate for... |
ORPHA:261519 |
Ciliary Dyskinesia, Primary, 37 |
|
Chronic rhinitis, Female infertility, Bronchiectasis, Rhinorrhea, Wheezing |
OMIM:617577 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Hypoplasia of the uter... |
OMIM:614837 |
Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:603649 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Simple Cryoglobulinemia |
|
Microscopic hematuria, Proteinuria, Abnormality of the kidney, Chronic lymphatic leukemia, Rheuma... |
ORPHA:91139 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Drusen, Peripheral retinal atrophy |
OMIM:136550 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Respiratory ... |
OMIM:615500 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Smal... |
ORPHA:1916 |
Recurrent Respiratory Papillomatosis |
|
Tracheomalacia, Dyspnea, Tachypnea, Atelectasis, Respiratory insufficiency, Nonproductive cough, ... |
ORPHA:60032 |
Anti-Glomerular Basement Membrane Disease |
|
Proteinuria, Glomerulopathy, Autoimmunity, Anemia, Renal insufficiency, Arthritis, Hematuria |
ORPHA:375 |
Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Increased circulating IgA level, Cervical lymphadenopathy, Autoimmune thrombo... |
OMIM:618534 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Chronic rhinitis, Decreased nasal n... |
OMIM:615481 |
Gaucher Disease Type 2 |
|
Recurrent respiratory infections, Cough, Hepatomegaly, Respiratory distress, Abnormal pattern of ... |
ORPHA:77260 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Cough, Failure to thrive, ... |
OMIM:263000 |
Mercury Poisoning |
|
Respiratory distress, Interstitial pneumonitis, Dyspnea, Respiratory failure |
ORPHA:330021 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Acne, Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty |
ORPHA:3000 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
Trimethylaminuria |
|
Trimethylaminuria, Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia |
OMIM:602079 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, P... |
OMIM:615482 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Male infertility |
OMIM:615842 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... |
OMIM:618889 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Eunuchoid habitus, Dec... |
OMIM:308700 |
Galactosemia Iii |
|
Jaundice, Galactosuria, Hypergalactosemia, Hepatomegaly, Aminoaciduria, Splenomegaly |
OMIM:230350 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:610599 |
Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Proteinuria, Glomerulopathy, Anemia, Renal insufficiency, Hypercalcemia |
ORPHA:2668 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Bronchiolitis obliterans, Cough, Decreased force... |
ORPHA:1303 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule morphology, Nephrot... |
ORPHA:839 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Proteinuria, Microscopic hematuria, Autoimmunity, Stag... |
ORPHA:1830 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... |
ORPHA:59181 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Cervical lymphadenopathy, Asplenia, Hemolytic anemia, Hepatomegaly, Lymphadenopathy,... |
OMIM:614034 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cryptorchidism, Cone/cone-rod dystrophy, Diabetes mellitus, Retinal degeneration, Optic atrophy |
OMIM:249270 |
Adrenal Hypoplasia, Congenital |
|
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea... |
OMIM:300200 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... |
OMIM:605670 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Proteinuria, Inflammation of the large intestine, Hyperuricemia, Decrea... |
OMIM:232220 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Neonatal respiratory distress, Premature ovarian insufficiency, Respiratory infections in early l... |
ORPHA:96179 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Proteinuria, Glomerulonephritis, Nephrotic syndrome, Glomerular sclerosis, Hypospadias |
OMIM:619428 |
Bothnia Retinal Dystrophy |
|
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Retinal degene... |
ORPHA:85128 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... |
ORPHA:90791 |
Stargardt Disease 3 |
|
Macular atrophy, Macular dystrophy, Macular flecks |
OMIM:600110 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Recurrent respiratory infections, Hepatomegaly, Failure to thrive, Pneumon... |
OMIM:269840 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Respiratory distress, Bronch... |
OMIM:619466 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ... |
OMIM:263200 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... |
OMIM:612885 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Splenomegaly |
ORPHA:231154 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Dyspnea, Chronic pulmonary obstruction, Cough, Chronic bronchitis, Elev... |
OMIM:613490 |
Macular Dystrophy, Vitelliform, 2 |
|
Subretinal fluid, Macular dystrophy, Cystoid macular degeneration |
OMIM:153700 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme... |
OMIM:204500 |
Cystic Echinococcosis |
|
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Increased circulating antibod... |
ORPHA:400 |
Lymphoid Interstitial Pneumonia |
|
Lymphocytic interstitial pneumonia |
OMIM:247610 |
Ceroid Lipofuscinosis, Neuronal, 6A |
|
Increased neuronal autofluorescent lipopigment, Retinal degeneration |
OMIM:601780 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Decrease... |
OMIM:614897 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Proteinuria, Enlarged kidney, Macroscopic hematuria, Increased blood u... |
ORPHA:251004 |
Denys-Drash Syndrome |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Nephropathy, Nephro... |
OMIM:194080 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cerebral atrophy, Hypogonadism, Facial diplegia, Respiratory distress, Cholel... |
OMIM:160900 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachypnea, Restrictive ventilatory defect, Cough, Failure to thrive in infancy, Hypoxemia, Crazy ... |
ORPHA:264675 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Usual i... |
OMIM:178500 |
Systemic Sclerosis |
|
Myocarditis, Proteinuria, Abnormality of the kidney, Anti-centromere antibody positivity, Glomeru... |
ORPHA:90291 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic sinusitis, Chronic pulmo... |
OMIM:616481 |
Al Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits, Increased circulatin... |
ORPHA:85443 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic sinusitis, Abnormal axon... |
OMIM:613808 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, Primary amenorrhea, Elevated circulating follicle stimulati... |
ORPHA:251510 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cerebral atrophy, Macular degeneration, Retinal degeneration, Increased extraneuronal autofluores... |
OMIM:204200 |
Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Recurrent respiratory infections, Chronic bronchitis, Chronic rhin... |
OMIM:612649 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Respiratory insufficiency, Failure to thrive, Female infertility... |
OMIM:619518 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Delayed puberty, Decreased testicular size, Decreased response to growth hormone stimulation test... |
ORPHA:280679 |
Bardet-Biedl Syndrome 17 |
|
Macular atrophy, Micropenis, Hypogonadism, Cone/cone-rod dystrophy, Retinal degeneration, Bone sp... |
OMIM:615994 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Chronic bronchitis, Respiratory insufficiency due to defective ... |
OMIM:614935 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Galloway-Mowat Syndrome 3 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrotic syndrome, Glo... |
OMIM:617729 |
Androgen Insensitivity, Partial |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... |
OMIM:312300 |
Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Renal tubular atrophy, Leukopenia, Enlarged kidney, Anemia, Bone marrow hypocellular... |
OMIM:617303 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Familial Nasal Acilia |
|
Dyspnea, Chronic sinusitis, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... |
ORPHA:922 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome, Hypoalbuminemia |
OMIM:614652 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Cerebellar atrophy, Retinal degeneration |
OMIM:614322 |
Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Glomerulonephritis, Pyelonephritis, Renal insufficiency, Recu... |
OMIM:610984 |
Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Oligospermia, Obstructive azoospermia, Male infertility |
ORPHA:48 |
Renal Hypoplasia |
|
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... |
ORPHA:93101 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Failure to thrive, Hypospadias |
OMIM:300934 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias |
OMIM:241100 |
Bardet-Biedl Syndrome 1 |
|
Biliary tract abnormality, Decreased testicular size, Micropenis, Hypogonadism, Abnormality of th... |
OMIM:209900 |
Dent Disease 2 |
|
Hypophosphatemia, Nephrocalcinosis, Chronic kidney disease, Elevated circulating creatine kinase ... |
OMIM:300555 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Discoid lupus rash, Antinuclear antibody positivity, Proteinuria, Leukopenia, Microan... |
ORPHA:93552 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Hyperuricemia, Chronic kidney disease, Renal cyst, Anemia, Gout, Nephropathy, Elevated circulatin... |
OMIM:617056 |
Idiopathic Bronchiectasis |
|
Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... |
ORPHA:60033 |
48,Xxxy Syndrome |
|
Chronic otitis media, Decreased testicular size, Cryptorchidism, Recurrent respiratory infections... |
ORPHA:96263 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Dyspnea, Cirrhosis, Pulmonary fibrosis, Interstitial pneumonitis, Hepatic necrosis |
OMIM:127550 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Macular degeneration, Cryptorchidism, Cerebral cortical atrophy, Choroidal neovascularization |
ORPHA:404451 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Megaloblastic anemia |
OMIM:618882 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Cerebral atrophy, Macular degeneration, Retinal degeneration, Optic atrophy, Increased neuronal a... |
OMIM:256730 |
Ciliary Dyskinesia, Primary, 12 |
|
Neonatal respiratory distress, Chronic otitis media, Recurrent respiratory infections, Chronic si... |
OMIM:612650 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... |
ORPHA:90797 |
Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy |
OMIM:609923 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Immunodeficiency 23 |
|
Hemolytic anemia, Abscess, Rheumatoid factor positive, Increased circulating IgE level, Chronic m... |
OMIM:615816 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Autoimmunity, Leukocytosis, Anemia, Rheumatoid factor positive, Antineutrophil antib... |
ORPHA:90060 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Autoimmunity, Hemolytic anemia, Increased circulating antibody level, Autoimmune thrombocytopenia... |
OMIM:614470 |
Thrombotic Thrombocytopenic Purpura |
|
Proteinuria, Acute kidney injury, Reticulocytosis, Microangiopathic hemolytic anemia, Renal insuf... |
ORPHA:54057 |
Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Recurrent ... |
OMIM:617514 |
Galloway-Mowat Syndrome 5 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:617731 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Mucopolysacchariduria, Proteinuria, Decreased circulating IgA level, Nephrotic syndrome, Macronod... |
OMIM:215250 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea, Hypoplasia of the uterus |
OMIM:617442 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Acute kidney injury, Uric acid nephrolithiasis, Hyperuricosuria, Hypouricemia, Renal... |
OMIM:220150 |
8P11.2 Deletion Syndrome |
|
Cryptorchidism, Hypogonadism, Hypoplasia of penis, Splenomegaly, Azoospermia, Patent ductus arter... |
ORPHA:251066 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Generalized aminoaciduria |
ORPHA:882 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Myocarditis, Elevated circulating creatine kinase concentration, Increased circulati... |
ORPHA:36234 |
Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Recurrent respiratory infections, External genital hypoplasia, Hepatomegaly, Elevated hepatic tra... |
ORPHA:329178 |
Frasier Syndrome |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:136680 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Proteinuria, Acute kidney injury, Stage 5... |
ORPHA:650 |
Ring Chromosome 21 Syndrome |
|
Infertility, Azoospermia, Diabetes insipidus, Amenorrhea |
ORPHA:1445 |
Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation... |
OMIM:616217 |
Harderoporphyria |
|
Reticulocytosis, Hemolytic anemia, Red urine, Increased urinary porphobilinogen, Increased urine ... |
OMIM:618892 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Brucellosis |
|
Myocarditis, Leukocytosis, Rheumatoid factor positive, Granuloma, Hepatomegaly, Intrarenal absces... |
ORPHA:1304 |
Lymphatic Filariasis |
|
Hypereosinophilia, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Knee osteoarthriti... |
ORPHA:2035 |
Postinfectious Vasculitis |
|
Increased circulating IgA level, Gastrointestinal inflammation, Proteinuria, Cytoplasmic antineut... |
ORPHA:48435 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Abnormal anterior horn cell morphology, Cryptorchidism, Respiratory insufficiency, Respiratory di... |
ORPHA:1145 |
Myotubular Myopathy With Abnormal Genital Development |
|
Micropenis, Atelectasis, Ambiguous genitalia, male, Neonatal death, Respiratory distress, Bilater... |
OMIM:300219 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Glycogen Storage Disease Ia |
|
Hepatocellular carcinoma, Proteinuria, Hyperuricemia, Enlarged kidney, Decreased glomerular filtr... |
OMIM:232200 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Male infertility |
OMIM:301077 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Rheumatoid factor positive, Hepatomegaly, Microcytic anemia, Lymphadenopat... |
OMIM:618852 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Female infertility... |
OMIM:612310 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ventilator dependence with inability to wean, Abnormality of the liver, Hepatomegaly, Respiratory... |
ORPHA:254864 |
Tyrosinemia, Type I |
|
Hepatocellular carcinoma, Nephrocalcinosis, Enlarged kidney, Anemia, Elevated circulating alpha-f... |
OMIM:276700 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... |
OMIM:609913 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Optic atrophy, Hepatic steatosis, Failure to thrive |
ORPHA:26792 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Chronic sinusitis, Cough, Decreased nasal nitric oxide, Recurrent otitis media, Male infertility,... |
OMIM:619607 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Hepatomegaly, Polysplenia, H... |
OMIM:208540 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria, Megaloblastic anemia |
OMIM:261100 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Decreased D... |
ORPHA:79127 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Oligomenorrhea, Hypogonadism, Retinal atrophy, Pancreatitis, Infertility, Delayed menarche, Parie... |
ORPHA:412057 |
49,Xxxxy Syndrome |
|
Chronic otitis media, Decreased testicular size, Cryptorchidism, Recurrent respiratory infections... |
ORPHA:96264 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Hepatomegaly, Azoospermia, Elevated hepatic iron concentration, Splenomegaly |
OMIM:615234 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubular basement membrane disintegration, Decreased glomerular filtration ... |
OMIM:174000 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria |
OMIM:160010 |
Ciliary Dyskinesia, Primary, 13 |
|
Infertility, Recurrent otitis media, Absent outer dynein arms, Absent inner dynein arms, Bronchie... |
OMIM:613193 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disea... |
OMIM:612925 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Pneumothorax... |
ORPHA:411703 |
Kennedy Disease |
|
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
Mogs-Cdg |
|
Hepatosplenomegaly, Inappropriate antidiuretic hormone secretion, Absent brainstem auditory respo... |
ORPHA:79330 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia, Male infertility |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Azoospermia, Male infertility |
OMIM:277180 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebral atrophy, Retinal atrophy, Respiratory insufficiency, Apnea, Neonatal death, Cerebellar a... |
OMIM:610127 |
Cone-Rod Dystrophy 22 |
|
Hyperautofluorescent macular lesion, Perifoveal ring of hyperautofluorescence, Hypoautofluorescen... |
OMIM:619531 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Decrease... |
OMIM:615513 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:616974 |
Primary Sjögren Syndrome |
|
Biliary cirrhosis, Chronic active hepatitis, Chronic hepatitis, Keratoconjunctivitis sicca, Usual... |
ORPHA:289390 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Cryptorchidism, Micropenis, Retinal detachment, Failure to thrive, Res... |
OMIM:607143 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Respiratory ... |
OMIM:615444 |
Papa Syndrome |
|
Proteinuria, Increased inflammatory response, Increased circulating antibody level, Pustule, Arth... |
ORPHA:69126 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Hemolytic-uremic syn... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Hemolytic-uremic syn... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Hemolytic-uremic syn... |
OMIM:612926 |
Galloway-Mowat Syndrome 1 |
|
Proteinuria, Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmenta... |
OMIM:251300 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
Perching Syndrome |
|
Respiratory distress, Rod-cone dystrophy |
OMIM:617055 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration, Recurrent bronchopulmonary infections |
ORPHA:85334 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Anemia, Hemolytic-uremic syn... |
OMIM:612924 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Severe Acute Respiratory Syndrome |
|
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea... |
ORPHA:140896 |
Ciliary Dyskinesia, Primary, 38 |
|
Chronic otitis media, Neonatal respiratory distress, Chronic sinusitis, Productive cough, Decreas... |
OMIM:618063 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Renal insufficiency, Elevated circu... |
ORPHA:228302 |
Maternally-Inherited Diabetes And Deafness |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Abnormal circulating lipid concentration |
ORPHA:225 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cryptorchidism, Retinal degeneration, Abnormality of pattern visual evoked potentials, Abnormalit... |
ORPHA:166035 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Hepatomegaly, Elevated hepatic transaminase, Fa... |
OMIM:613561 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Rheumatoid factor positive, Salmonella osteomyelitis, H... |
OMIM:209950 |
Alg6-Cdg |
|
Jaundice, Abnormality of the liver, Puberty and gonadal disorders, Retinal degeneration, Failure ... |
ORPHA:79320 |
Glycogen Storage Disease Xi |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Increased serum pyruvate... |
OMIM:612933 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:180210 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight |
OMIM:300580 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Neonatal death, Stillbirth, Respiratory distress, Eczema |
OMIM:619751 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia |
ORPHA:228312 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatocellular carcinoma, Proteinuria, Abnormality of the kidney, Hepatic fibrosis, Hepatomegaly,... |
ORPHA:369 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Autoimmunity, Inflammatory abnormality of the skin, Absent tonsils, Increased circulating IgE lev... |
ORPHA:277 |
Glycogen Storage Disease X |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Myoglobinuria |
OMIM:261670 |
Congenital Myopathy 10A, Severe Variant |
|
Restrictive ventilatory defect, Respiratory insufficiency, Failure to thrive, Respiratory distres... |
OMIM:614399 |
Cryoglobulinemic Vasculitis |
|
Proteinuria, Glomerulopathy, Abnormality of the liver, Viral hepatitis, Renal insufficiency, Kera... |
ORPHA:91138 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Retinal degeneration, Irregular menstruation, Bone spicule pigmentation of the r... |
OMIM:615986 |
Aromatase Deficiency |
|
Cryptorchidism, Eunuchoid habitus, Primary amenorrhea, Obesity, Hypergonadotropic hypogonadism, F... |
ORPHA:91 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Proteinuria, Renal amyloidosis, Erysipelas, Renal insufficiency |
OMIM:134610 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Cystic renal dysplasia, H... |
OMIM:615415 |
Immunodeficiency, Common Variable, 2 |
|
Autoimmunity, Decreased circulating IgA level, Hepatomegaly, Follicular hyperplasia, Recurrent pn... |
OMIM:240500 |
Nephronophthisis 15 |
|
Obesity, Elevated hepatic transaminase, Retinal degeneration |
OMIM:614845 |
Premature Ovarian Failure 20 |
|
Female infertility, Secondary amenorrhea |
OMIM:619938 |
Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Granuloma, Colitis, Hepatosplenomegaly, Recurrent urinary tract infections, Lym... |
OMIM:619802 |
Cryptogenic Organizing Pneumonia |
|
Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Crackles, Pneumo... |
ORPHA:1302 |
Wagner Vitreoretinopathy |
|
Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, Exudative ... |
OMIM:143200 |
Neuraminidase Deficiency |
|
Vacuolated lymphocytes, Proteinuria, Bone-marrow foam cells, Hepatomegaly, Urinary excretion of s... |
OMIM:256550 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Renal cortical microcysts, Hydronephrosis, Albuminuria, Elevated circulating long chain fatty aci... |
OMIM:214100 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation |