Polycystic Kidney Disease 5 |
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Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Immunodeficiency, Common Variable, 6 |
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Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Hepatorenocardiac Degenerative Fibrosis |
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Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... |
OMIM:619902 |
Congenital Megacalycosis |
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Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Splenomegaly, Enlarged kidney, Hepatomegaly |
OMIM:615285 |
Nephronophthisis 2 |
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Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Nephronophthisis 16 |
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Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Meckel Syndrome, Type 8 |
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Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Aa Amyloidosis |
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Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Renal Dysplasia |
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Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Denys-Drash Syndrome |
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Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue... |
OMIM:194080 |
Autosomal Dominant Polycystic Kidney Disease |
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Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... |
ORPHA:730 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... |
OMIM:263200 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... |
ORPHA:90301 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Elevated circulating cr... |
OMIM:608836 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
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Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Mucopolysaccharidosis-Plus Syndrome |
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Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... |
OMIM:617303 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Progressive psychomotor det... |
ORPHA:251004 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Asplenia, Splenomegaly, Pancreatic cysts,... |
OMIM:208540 |
Kaposiform Lymphangiomatosis |
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Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Abnormal... |
ORPHA:464329 |
Glycogen Storage Disease Ib |
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Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Fo... |
OMIM:232220 |
Igg4-Related Kidney Disease |
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Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... |
ORPHA:449395 |
H Syndrome |
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Hypertriglyceridemia, Abnormality of the kidney, Lymphadenopathy, Hepatosplenomegaly, Azoospermia... |
ORPHA:168569 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Diaphanospondylodysostosis |
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Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Tyrosinemia, Type I |
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Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... |
OMIM:276700 |
Glycogen Storage Disease Ia |
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Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... |
OMIM:232200 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Autosomal Recessive Polycystic Kidney Disease |
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Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegal... |
ORPHA:731 |
Endocrine-Cerebroosteodysplasia |
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Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype... |
OMIM:612651 |
Hyperparathyroidism, Transient Neonatal |
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Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney |
OMIM:618188 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma... |
ORPHA:276280 |
Acrocephalopolydactylous Dysplasia |
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Hepatomegaly, Pancreatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatomegaly, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, ... |
ORPHA:79259 |
Lymphoid Interstitial Pneumonia |
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Mediastinal lymphadenopathy, Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... |
ORPHA:505248 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Alg9-Cdg |
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Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Irritability, Bicornuate uterus, Hy... |
ORPHA:79328 |
Meacham Syndrome |
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Accessory spleen, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic... |
OMIM:608978 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Beckwith-Wiedemann Syndrome |
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Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiom... |
ORPHA:116 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, L... |
OMIM:602450 |
Leprechaunism |
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Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... |
ORPHA:508 |
Mucolipidosis Ii Alpha/Beta |
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Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... |
OMIM:252500 |
Helsmoortel-Van Der Aa Syndrome |
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Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto... |
OMIM:615873 |
Ogden Syndrome |
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Global glomerulosclerosis, Cardiomegaly, Cryptorchidism, Hydrocele testis, Irritability, Hyperbil... |
OMIM:300855 |
Cardiac-Urogenital Syndrome |
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Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Apla... |
OMIM:618280 |
Purine Nucleoside Phosphorylase Deficiency |
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Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ... |
OMIM:613179 |
Heterotaxy, Visceral, 1, X-Linked |
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Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Polysplenia, Enlarged kidney |
OMIM:306955 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Enlarged kidney, Cardiomegaly |
OMIM:261740 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Lymph node hypoplasia, Absent tonsils, Hepatomegaly |
ORPHA:276 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hepatomegaly, Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidism, Renal cyst, Duplic... |
OMIM:312870 |
Meige Disease |
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Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Agammaglobulinemia, X-Linked |
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Lymph node hypoplasia, Recurrent urinary tract infections, Epididymitis, Prostatitis |
OMIM:300755 |