C1Q Deficiency |
|
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Autoimmunity |
OMIM:613652 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Nephritis |
OMIM:614420 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Systemic lupus erythematosus, Nephrotic syndrome, Recurrent tonsillitis, Membranoproliferative gl... |
OMIM:613779 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Nephrotic syndrome, Podocyte foot process effacement, Impaired lymphocyte transformation... |
OMIM:617006 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Autoimmunity, Nephritis, Arthritis |
OMIM:216950 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... |
OMIM:615861 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic anemia, Thickened glomerular basement membrane, Proteinuria, Acute ... |
OMIM:615008 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Glomerulonephritis, Plasmacytosis, Pneumonia, Autoimmune hemolytic anemia |
OMIM:247800 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoi... |
OMIM:619375 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Complement Component 4A Deficiency |
|
Glomerulonephritis, Systemic lupus erythematosus |
OMIM:614380 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
C3 Glomerulopathy 3 |
|
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:614809 |
Hypouricemia, Renal, 1 |
|
Hyperuricosuria, Uric acid nephrolithiasis, Acute kidney injury, Renal tubular epithelial necrosi... |
OMIM:220150 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... |
ORPHA:90283 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... |
OMIM:161900 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
Systemic Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephritis, Leukopenia, Arthri... |
OMIM:152700 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, C3 nephritic factor positivity, Glomerular subendothe... |
ORPHA:54370 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... |
ORPHA:228302 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis |
OMIM:617609 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria |
OMIM:611771 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... |
ORPHA:567544 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:613944 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, Rheumatoid factor po... |
ORPHA:49041 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Arthritis, Cre... |
OMIM:616414 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Stage 5 chronic k... |
OMIM:615559 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... |
OMIM:601894 |
Masp2 Deficiency |
|
Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Anterior uveitis, Non-caseating epithelioid cell granulomatosis, Reversible renal fai... |
OMIM:607665 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia |
OMIM:609886 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Chronic kidney disease, Nephropathy |
OMIM:602114 |
Complement Component C1S Deficiency |
|
Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis |
OMIM:613783 |
Thrombocytopenic Purpura, Autoimmune |
|
Platelet antibody positive |
OMIM:188030 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Hematuria |
OMIM:314000 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... |
OMIM:601331 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... |
ORPHA:444463 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Cystinuria |
|
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... |
OMIM:220100 |
Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:161950 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
Nephronophthisis 20 |
|
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:617271 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... |
OMIM:618178 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... |
OMIM:603965 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Rheumatoid factor positive, Lymphadenopathy, Nephrotic syndrome, Smooth muscle anti... |
OMIM:603909 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis |
OMIM:305800 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:613913 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Nephronophthisis-Like Nephropathy 2 |
|
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... |
OMIM:619468 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria |
ORPHA:2613 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the kidney, Elevated circulating creatinine concentration,... |
ORPHA:275555 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff... |
OMIM:162000 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... |
OMIM:614723 |
Autoimmune Hepatitis |
|
Liver kidney microsome type 1 antibody positivity, Viral hepatitis, Smooth muscle antibody positi... |
ORPHA:2137 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... |
OMIM:308990 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Smooth muscle antibody positivity, Hepatosplenomegaly, Antineutrophil antibody posi... |
ORPHA:99931 |
Xanthinuria, Type Ii |
|
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... |
OMIM:603592 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:616893 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
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 |
Actinic Prurigo |
|
Glomerulonephritis, Cheilitis, Pyoderma |
OMIM:174770 |
Nephrotic Syndrome, Type 24 |
|
Focal segmental glomerulosclerosis, Podocyte foot process effacement, Renal cortical hyperechogen... |
OMIM:619263 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:608709 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Stage 5 chronic kidney disease |
OMIM:618250 |
Nephrotic Syndrome, Type 4 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... |
OMIM:256370 |
Mucous Membrane Pemphigoid |
|
Autoimmunity |
ORPHA:46486 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... |
OMIM:619858 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Pauci-Immune Glomerulonephritis |
|
Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtration rate, Arteritis, Macro... |
ORPHA:93126 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Nephrotic syndrome, Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Atopic der... |
OMIM:618999 |
Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... |
OMIM:618176 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
Nephronophthisis 7 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:611498 |
Inclusion Body Myositis |
|
Elevated circulating creatine kinase concentration, Autoimmunity |
ORPHA:611 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chr... |
OMIM:615573 |
Bardet-Biedl Syndrome 10 |
|
Abnormality of the kidney, Renal cyst, Renal insufficiency |
OMIM:615987 |
Complement Factor H Deficiency |
|
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel... |
OMIM:609814 |
Eosinophilopenia |
|
Allergic rhinitis, Autoimmunity |
OMIM:131430 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbumine... |
OMIM:600995 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, H... |
ORPHA:84090 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Myoglobinuria, Cystic renal dys... |
ORPHA:157 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Myoglobinuria, ... |
ORPHA:228308 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... |
ORPHA:656 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Thickened glomerular basement membrane, Glomerular basement membrane disruption, Nephritis, Stage... |
OMIM:609057 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Rheumatoid factor positive, Microcytic anemia,... |
OMIM:618852 |
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 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Renal insufficiency |
OMIM:248760 |
Iga Nephropathy, Susceptibility To, 3 |
|
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... |
OMIM:616818 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Elevated circulating creatinine con... |
ORPHA:79233 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Hyperuricosuria, Stage 4 chronic kidney disease, Acute kidney injury, Renal insuffi... |
ORPHA:411536 |
Diabetes Mellitus, Ketosis-Prone |
|
Autoimmunity |
OMIM:612227 |
Immunodeficiency 104 |
|
Hepatomegaly, Otitis media, Splenomegaly, Eczema, T lymphocytopenia, Chronic mucocutaneous candid... |
OMIM:608971 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonep... |
OMIM:304790 |
Nephrotic Syndrome, Type 21 |
|
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... |
OMIM:618594 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency |
OMIM:615995 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Prolonged somatosensory evoked potentials, Optic atrophy, Mitra... |
OMIM:616648 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Systemic lupus erythematosus, Abnormal renal physiology, Abnormality of the kidney, Arthritis, Pe... |
OMIM:609939 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease |
OMIM:617610 |
Diffuse Alveolar Hemorrhage |
|
Antiphospholipid antibody positivity, Antineutrophil antibody positivity, Rheumatoid factor posit... |
ORPHA:90060 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency |
OMIM:615993 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Peritonitis, Abnormal glomerular visceral epi... |
ORPHA:567548 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Thrombocytopenia, Nephritis |
ORPHA:3327 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Nephrosialidosis |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency |
OMIM:256150 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity |
OMIM:609529 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... |
OMIM:266900 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Immunodeficiency 7 |
|
Autoimmunity |
OMIM:615387 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:610725 |
Fechtner syndrome |
|
Nephritis, Neutrophil inclusion bodies, Hematuria, Leukocyte inclusion bodies, Proteinuria, Giant... |
OMIM:153640 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria |
ORPHA:54057 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Hematuria, Proteinuria, Microangiopathic hemolytic anemia, Lupus anticoagulan... |
ORPHA:93552 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... |
OMIM:616892 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... |
OMIM:123550 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Autoimmunity, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... |
OMIM:104200 |
Type 1 Diabetes Mellitus |
|
Polyuria, Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Skin rash, Splenomegaly |
OMIM:619175 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Proteinuria, Glomerular sclerosis, Stage 5 chronic kidney disease, Minimal ch... |
OMIM:301006 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Nephropathy, Hematuria, Cholestasis, P... |
OMIM:105200 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... |
ORPHA:976 |
Immunodeficiency 91 And Hyperinflammation |
|
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Maculopapular exanthema, Hepato... |
OMIM:619644 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... |
OMIM:179800 |
Complement Factor I Deficiency |
|
Recurrent skin infections, Recurrent urinary tract infections, Recurrent sinusitis, Renal insuffi... |
OMIM:610984 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Retinitis Pigmentosa 59 |
|
Renal insufficiency, Micropenis |
OMIM:613861 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Systemic lupus erythematosus, Autoimmunity, Autoimmune antibody positivity |
ORPHA:411593 |
Lesch-Nyhan Syndrome |
|
Renal insufficiency, Hematuria, Hyperuricemia |
ORPHA:510 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine, Autoimmunity, Renal neoplasm |
ORPHA:46488 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis |
OMIM:249660 |
Autoimmune Lymphoproliferative Syndrome |
|
Antiphospholipid antibody positivity, Neutropenia in presence of anti-neutropil antibodies, Hepat... |
OMIM:601859 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... |
OMIM:615244 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... |
OMIM:254900 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... |
ORPHA:231154 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Albuminuria, Proteinuria |
OMIM:618884 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616220 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Sjogren Syndrome |
|
Rheumatoid arthritis, Tubulointerstitial nephritis, Autoimmunity, Keratoconjunctivitis sicca |
OMIM:270150 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Nephrotic range proteinuria, Hypoproteinemia, Thickened glomerular basement m... |
OMIM:619155 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Eczema, Anti-thyroid peroxidase antibody positivity, Anti-liver cytosolic antigen type... |
ORPHA:37042 |
Urofacial Syndrome 2 |
|
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... |
OMIM:615112 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chronic... |
OMIM:603278 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity |
OMIM:137100 |
Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Autoimmunity |
ORPHA:163703 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infection... |
OMIM:618495 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria |
OMIM:245900 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Hypocalcemia, Hematuria, Renal insufficiency, Decreased urine output, ... |
ORPHA:31826 |
Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency |
ORPHA:1909 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Rheumatoid factor positive,... |
ORPHA:3261 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... |
OMIM:203780 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Immunodeficiency 64 |
|
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Autoimmunity, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
Lcat Deficiency |
|
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... |
ORPHA:650 |
Thymoma |
|
Systemic lupus erythematosus, Rheumatoid arthritis, Aplastic anemia, Myositis, Imbalanced hemoglo... |
ORPHA:99867 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Anemia |
OMIM:602079 |
Coach Syndrome 3 |
|
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... |
OMIM:619113 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Nephronophthisis, Cholestasis, Thickened glomerular basement membrane, Tub... |
OMIM:615862 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... |
OMIM:619220 |
Hinman Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... |
ORPHA:84085 |
Hyperuricemia, Hprt-Related |
|
Nephrolithiasis, Hyperuricosuria, Renal insufficiency, Hyperuricemia |
OMIM:300323 |
Galloway-Mowat Syndrome 7 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, Eczema, IgA deposition in... |
OMIM:618348 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst... |
OMIM:614227 |
Glycogen Storage Disease Xi |
|
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... |
OMIM:612933 |
Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
Glycogen Storage Disease X |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Secondary Non-Traumatic Avascular Necrosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity |
ORPHA:399180 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Glomerulonephr... |
OMIM:614376 |
Cystinuria |
|
Nephrolithiasis, Hematuria, Hyperuricemia, Renal insufficiency |
ORPHA:214 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Nephritis, Cervical lymphadenopathy, Hematuria, H... |
OMIM:614034 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Myoglobinuria, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury |
OMIM:160010 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... |
OMIM:300555 |
Chilblain Lupus |
|
Discoid lupus rash, Antiphospholipid antibody positivity, Systemic lupus erythematosus, Inflammat... |
ORPHA:90280 |
Myh9-Related Disease |
|
Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital thrombocytopenia, Increased mean ... |
ORPHA:182050 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Acrorenal Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology |
ORPHA:971 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, B lymphocytopenia, Absence of lymph... |
ORPHA:277 |
Hereditary Xanthinuria |
|
Crystalluria, Rheumatoid arthritis, Recurrent urinary tract infections, Xanthinuria, Hematuria, H... |
ORPHA:3467 |
Acquired Ichthyosis |
|
Autoimmunity, Renal insufficiency, Recurrent skin infections |
ORPHA:454 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Pro... |
OMIM:613388 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... |
ORPHA:449395 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly, Macrotia |
OMIM:300886 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Nephritis |
OMIM:274240 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Decreased serum creatinine, Hyponatremia, Decreased circulating renin level |
OMIM:300539 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Elevated circulating C-reactive protein concentration, Rheumatoid arthritis, Inflammatory abnorma... |
ORPHA:79099 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Systemic lupus erythematosus, Skin rash, Increased total bilirubin, Autoi... |
ORPHA:90036 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria |
ORPHA:2134 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... |
OMIM:603860 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... |
ORPHA:93108 |
Nephrotic Syndrome, Type 1 |
|
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Diffuse mesangial sclerosis... |
OMIM:256300 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Hypercalcemia, Renal insufficiency, Proteinuria |
ORPHA:2668 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Recurrent sinusitis, Autoimmunity, Recurrent ... |
OMIM:240500 |
Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Autoimmunity, Renal insufficiency, Proteinuria, Glomerulopathy |
ORPHA:375 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Abnormal motor evoked po... |
ORPHA:320401 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Skin rash, Splenomegaly, Juvenile rheumatoid arthritis, Anterior uveitis, Autoimmun... |
ORPHA:85414 |
Immunodeficiency 48 |
|
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Pneumonia, Absence of CD8-positive T cells |
OMIM:269840 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Nephronophthisis 16 |
|
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Patent ductus arteriosus, Renal i... |
OMIM:615382 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... |
ORPHA:2364 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Liddle Syndrome |
|
Hypokalemia, Nephropathy, Renal insufficiency |
ORPHA:526 |
Primary Hyperoxaluria Type 2 |
|
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... |
ORPHA:93599 |
Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chronic sinusiti... |
ORPHA:443811 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria, Hydronephrosis |
OMIM:278300 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis |
OMIM:260000 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Megabladder, Congenital |
|
Hyperechogenic kidneys, Multiple glomerular cysts, Patent ductus arteriosus, Fetal megacystis, St... |
OMIM:618719 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Simple Cryoglobulinemia |
|
Nephrotic syndrome, Viral hepatitis, Nephritis, Mesangial hypercellularity, Abnormality of the ki... |
ORPHA:91139 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Rh... |
OMIM:209950 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Hyperuricemia |
OMIM:617056 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Autoimmunity, Lymphadenopathy |
ORPHA:56425 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency |
OMIM:615996 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Proteinuria,... |
OMIM:134600 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia |
ORPHA:673 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Decreased glomerular filtration rate,... |
ORPHA:470 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Alport Syndrome |
|
Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin... |
ORPHA:63 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Abnormal circulating lipid concentration, Proteinuria, Renal insufficiency |
ORPHA:225 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... |
OMIM:615605 |
Immunodeficiency 22 |
|
Autoimmunity, Panniculitis |
OMIM:615758 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... |
OMIM:604387 |
Oligomeganephronia |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... |
ORPHA:2260 |
Amyloidosis, Finnish Type |
|
Nephrotic syndrome, Renal insufficiency |
OMIM:105120 |
Immunodeficiency 32B |
|
Bronchiectasis, Sinusitis, Pneumonia, Splenomegaly |
OMIM:226990 |
Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... |
ORPHA:93110 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dysuria, Ureterocele, Aplasia/Hypoplasia of the bladder, Ureteral obstruction, Recurrent urinary ... |
ORPHA:79404 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal lymphocytic tubulitis, Elevated circulating C-reactive protein concentration, Aminoaciduria... |
ORPHA:91500 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Hypospadias, Proteinuria, Glomerulonephritis, Glomerular sclerosis |
OMIM:619428 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia |
ORPHA:28 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Pyelonephritis, Unilateral renal atrophy, Nephritis, Renal dysplasia |
OMIM:314300 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice |
OMIM:230350 |
Joubert Syndrome 4 |
|
Renal insufficiency, Abnormal renal medulla morphology, Nephronophthisis, Stage 5 chronic kidney ... |
OMIM:609583 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated circulating C-reactive pro... |
ORPHA:48435 |
Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Eczema, Chronic mucocutaneous candidiasis, Autoimmunity |
OMIM:614162 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Lymphopenia, Nephrotic range proteinuria, Nephropathy, Abnormal proportion of naive... |
ORPHA:1830 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Renal insufficiency |
ORPHA:890 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Pemphigus Erythematosus |
|
Systemic lupus erythematosus, Autoimmunity, Malar rash, Antinuclear antibody positivity, Anti-ace... |
ORPHA:79480 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Elevated circulating creatine kinase concentration, Hyperglycinemia, Renal insuffi... |
OMIM:619386 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Abnormal renal physiology, Nephropathy, Cardiomyopa... |
ORPHA:85447 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... |
OMIM:612965 |
Hypervitaminosis A, Susceptibility To |
|
Renal insufficiency, Hypercalcemia |
OMIM:240150 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multiple renal cysts... |
OMIM:613095 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Intrahepatic bile du... |
OMIM:614377 |
Systemic Sclerosis |
|
Anti-centromere antibody positivity, Chronic kidney disease, Anti-topoisomerase I antibody positi... |
ORPHA:90291 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Skin rash, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Perrault Syndrome 3 |
|
Sensorineural hearing impairment, Hypergonadotropic hypogonadism, Congenital sensorineural hearin... |
OMIM:614129 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... |
OMIM:273250 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Systemic lupus erythematosus, Leukopenia, Monocytosis, Eczema, Refractory anemia, Bone marrow hyp... |
OMIM:616871 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney disease |
OMIM:618061 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Recurrent sinusitis, Decr... |
OMIM:300853 |
Immunodeficiency 76 |
|
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Ly... |
OMIM:619164 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A... |
OMIM:300635 |
Brucellosis |
|
Hepatomegaly, Rheumatoid factor positive, Myocarditis, Epididymitis, Hypersplenism, Pneumonia, Kn... |
ORPHA:1304 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Elevated circulating creatinine concentration, R... |
OMIM:616733 |
Retinal Venous Beading |
|
Nephritis, Neutropenia |
OMIM:180080 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Alport Syndrome 1, X-Linked |
|
Nephrotic syndrome, Nephritis, Thickened glomerular basement membrane, Proteinuria, Renal insuffi... |
OMIM:301050 |
Isolated Agammaglobulinemia |
|
Sinusitis, Skin rash, Otitis media, Abnormality of the lymphatic system, Abnormal lymphocyte morp... |
ORPHA:229717 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Hyperuricosuria, Renal insufficiency, Acute kidney injury, Hyperuricemia, Uric acid... |
ORPHA:411543 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Sensorineural hearing impairment, Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy,... |
OMIM:617713 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Hypocalcemia, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Elevat... |
ORPHA:36234 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... |
ORPHA:168563 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury, Hyperkalemia |
OMIM:268200 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... |
ORPHA:1652 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Nephrotic syndrome, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosple... |
OMIM:618935 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Systemic lupus erythematosus, Splenomegaly, Chronic lymphatic leukemia, A... |
ORPHA:90033 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Skin rash, Splenomegaly, Rheumatoid arthritis, Autoimmune thrombocytopenia, Abnorma... |
ORPHA:100026 |
Bullous Pemphigoid |
|
Eczema, Autoimmunity, Psoriasiform dermatitis |
ORPHA:703 |
Dent Disease 1 |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... |
OMIM:300009 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Splenomegaly, Autoimmunity, Pancytopenia, Anemia, Panniculitis |
OMIM:618398 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... |
OMIM:274150 |
Diffuse Neonatal Hemangiomatosis |
|
Renal hypoplasia/aplasia, Patent ductus arteriosus, Renal insufficiency, Hypercalcemia |
ORPHA:2123 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Skin rash, Thrombocytopenia, Neutro... |
OMIM:603552 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease |
ORPHA:3156 |
Lymphatic Filariasis |
|
Nephrotic syndrome, Orchitis, Urethral obstruction, Abnormality of the kidney, Lymphadenitis, Glo... |
ORPHA:2035 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality |
OMIM:617519 |
Subcorneal Pustular Dermatosis |
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Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Pustule |
ORPHA:48377 |
Cystic Echinococcosis |
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Cholestatic liver disease, Hepatomegaly, Eosinophilia, Peritoneal abscess, Abnormality of the pan... |
ORPHA:400 |
Immunodeficiency 23 |
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Lymphopenia, Eosinophilia, Eczema, Rheumatoid factor positive, Membranoproliferative glomerulonep... |
OMIM:615816 |
Erythroleukemia, Familial, Susceptibility To |
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Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... |
OMIM:235400 |
Familial Isolated Hyperparathyroidism |
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Hypophosphatemia, Infantile hypercalcemia, Hypercalciuria, Renal insufficiency, Hypercalcemia, Hy... |
ORPHA:99879 |
Ochoa Syndrome |
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Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... |
ORPHA:2704 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Recurrent otitis media, Hepatomegaly, Chronic oral candidiasis, Hemophagocytosis, Splenomegaly, A... |
OMIM:301078 |
Immunodeficiency 16 |
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Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
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Hepatomegaly, Splenomegaly, Cholestasis, Proteinuria, Jaundice |
OMIM:620010 |
Nephronophthisis 1 |
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Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... |
OMIM:256100 |
Hyperbilirubinemia, Shunt, Primary |
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Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Juvenile Nephropathic Cystinosis |
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Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Hypokalemia, Aminoaciduria, Hy... |
ORPHA:411634 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... |
ORPHA:85450 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus |
OMIM:618078 |
Goodpasture Syndrome |
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Cylindruria, Increased blood urea nitrogen, Macroscopic hematuria, Glomerular crescent formation,... |
OMIM:233450 |
Unclassified Myelodysplastic Syndrome |
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Autoimmunity |
ORPHA:98827 |
Autoimmune Hemolytic Anemia |
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Abnormal leukocyte morphology, Abnormal urinary color, Splenomegaly, Hemolytic anemia, Autoimmunity |
ORPHA:98375 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
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Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... |
OMIM:191800 |
Leydig Cell Hypoplasia |
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Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... |
ORPHA:755 |
Neurooculocardiogenitourinary Syndrome |
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Sensorineural hearing impairment, Atrial septal defect, Ventricular septal defect, Patent foramen... |
OMIM:618652 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, A... |
OMIM:614837 |
Mullerian Aplasia And Hyperandrogenism |
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Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis, Aplasia/Hypoplasia of th... |
OMIM:158330 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Hypertriglyceridemia, Transient Infantile |
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Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
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Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Pemphigus Vulgaris |
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Autoimmunity, Recurrent cutaneous abscess formation |
ORPHA:704 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Chronic kidney disease, Macroscopic hematuria, Focal segmental glomerulosclerosis, Ascites, Micro... |
ORPHA:567546 |
Nephrolithiasis, Calcium Oxalate |
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Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... |
OMIM:167030 |
Nephronophthisis 4 |
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Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... |
OMIM:606966 |
Dyschondrosteosis And Nephritis |
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Nephritis |
OMIM:127350 |
Fanconi Renotubular Syndrome 5 |
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Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... |
OMIM:618913 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Distal 16P11.2 Microdeletion Syndrome |
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Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Hyperuricemia, Ve... |
ORPHA:261222 |
Ovarian Dysgenesis 5 |
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Hypoplasia of the uterus |
OMIM:617690 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Senior-Loken Syndrome 4 |
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Polyuria, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:606996 |
Mucopolysaccharidosis-Plus Syndrome |
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Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Leukopenia, Mac... |
OMIM:617303 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
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Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease |
OMIM:610805 |
Charcot-Marie-Tooth Disease, Type 4D |
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Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
Immunodeficiency 14A, Autosomal Dominant |
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Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Bronchiec... |
OMIM:615513 |
Felty Syndrome |
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Sinusitis, Hepatomegaly, Rhinitis, Splenomegaly, Recurrent urinary tract infections, Chronic otit... |
ORPHA:47612 |
Acrorenal Syndrome, Autosomal Recessive |
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Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency |
OMIM:201310 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Macrocytic anemia, Th... |
OMIM:617780 |
Hypomagnesemia 3, Renal |
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Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Hypomagnesemia, Renal tubular aci... |
OMIM:248250 |
Aa Amyloidosis |
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Chronic kidney disease, Nephrotic syndrome, Abnormality of the kidney, Nephropathy, Enlarged kidn... |
ORPHA:85445 |
Papillorenal Syndrome |
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Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... |
OMIM:120330 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative glomerulonephritis, E... |
ORPHA:251004 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
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Renal insufficiency, Renal cyst, Nephropathy, Hematuria |
OMIM:611773 |
Frasier Syndrome |
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Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Cardiomegaly |
ORPHA:88643 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Crohn's disease, Lymphopenia, Hepatomegaly, Splenomegaly, Eczema, Atrophic gastritis, Autoimmune ... |
OMIM:616100 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
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Chronic kidney disease, Pulmonary lymphangiectasia, Membranoproliferative glomerulonephritis, Ren... |
OMIM:137940 |
Familial Mediterranean Fever, Autosomal Dominant |
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Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Coproporphyria, Hereditary |
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Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
Multicentric Carpotarsal Osteolysis Syndrome |
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Renal insufficiency, Bilateral renal atrophy, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Omenn Syndrome |
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Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte m... |
ORPHA:39041 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
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Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... |
ORPHA:1215 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... |
OMIM:602522 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Renal tubular dysfunction, Renal insufficiency, Hyperammonemia |
ORPHA:289916 |
Purine Nucleoside Phosphorylase Deficiency |
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Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemolytic ane... |
ORPHA:760 |
Lymphoproliferative Syndrome 1 |
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Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Stomatitis... |
OMIM:613011 |
X-Linked Lymphoproliferative Disease |
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Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Myocarditis, Incr... |
ORPHA:2442 |
Perrault Syndrome 6 |
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Sensorineural hearing impairment, Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Autoimmune Hypoparathyroidism |
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Hypocalcemia, Autoimmune antibody positivity, Calcium nephrolithiasis, Hypocalcemic tetany, Hyper... |
ORPHA:36913 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus |
OMIM:608996 |
Frasier Syndrome |
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Nephrotic syndrome, Nephroblastoma, Focal segmental glomerulosclerosis, Renal insufficiency, Prot... |
ORPHA:347 |
Cardiomyopathy, Familial Hypertrophic 27 |
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Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Alg1-Cdg |
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Abnormality of the kidney, Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia |
ORPHA:79327 |
Harderoporphyria |
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Increased urine harderoporphyrin level, Hepatomegaly, Splenomegaly, Increased urinary porphobilin... |
OMIM:618892 |
Immunodeficiency 60 And Autoimmunity |
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Crohn's disease, Colitis, Perinuclear antineutrophil antibody positivity, Splenomegaly, Decreased... |
OMIM:618394 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent sinusitis, Anemia, Thrombo... |
OMIM:613101 |
Nodular Non-Suppurative Panniculitis |
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Hepatomegaly, Splenomegaly, Autoimmunity, Inflammatory abnormality of the eye, Panniculitis |
ORPHA:33577 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
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Cardiomegaly, Macrotia |
OMIM:613576 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
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Abnormal renal physiology, Nephropathy, Hematuria, Thickened glomerular basement membrane, Renal ... |
OMIM:308940 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemic rickets, Hypop... |
OMIM:300554 |
Coach Syndrome 2 |
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Elevated circulating creatinine concentration, Hyperechogenic kidneys |
OMIM:619111 |
Renal And Mullerian Duct Hypoplasia |
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Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... |
OMIM:266810 |
Igg4-Related Aortitis |
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Elevated circulating C-reactive protein concentration, Autoimmunity, Increased inflammatory respo... |
ORPHA:449400 |
Aapoaiv Amyloidosis |