Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Leukopenia, Enlarged kidney, Anemia, Extramedullary hematopoiesis, Hepatomegaly, Thrombocytopenia... |
OMIM:615285 |
Hepatorenocardiac Degenerative Fibrosis |
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Hepatosplenomegaly, Renal interstitial fibrosis, Hepatocellular carcinoma, Jaundice, Enlarged kid... |
OMIM:619902 |
Polycystic Kidney Disease 5 |
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Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... |
OMIM:617610 |
Immunodeficiency, Common Variable, 6 |
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Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Autoimmune t... |
OMIM:613496 |
Nephronophthisis 16 |
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Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Cholestasis, Renal ... |
OMIM:615382 |
Congenital Megacalycosis |
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Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Tubulointerstitial... |
ORPHA:93109 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Hyperechogenic ki... |
OMIM:263200 |
Aa Amyloidosis |
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Proteinuria, Acute kidney injury, Abnormality of the kidney, Chronic kidney disease, Enlarged kid... |
ORPHA:85445 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Polycystic kidney dysplasia, Enlarged kidney, Asplenia, Cholestasis, Hepatomegaly, Polysplenia, H... |
OMIM:208540 |
Mucopolysaccharidosis-Plus Syndrome |
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Proteinuria, Long eyelashes, Renal tubular atrophy, Leukopenia, Enlarged kidney, Anemia, Synophry... |
OMIM:617303 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Asplenia, Enlarged kidney, Cholestasis, Hepatic fibrosis, Hepatomegaly, Cystic renal dysplasia, H... |
OMIM:615415 |
Nephronophthisis 2 |
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Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... |
OMIM:602088 |
Renal Dysplasia |
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Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
Autosomal Dominant Polycystic Kidney Disease |
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Recurrent urinary tract infections, Stage 5 chronic kidney disease, Chronic kidney disease, Abnor... |
ORPHA:730 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Enlarged polycystic ovaries, Hirsutism, Enlarged kidney |
ORPHA:90301 |
Meckel Syndrome, Type 8 |
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Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged kidney |
OMIM:613885 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Cataract, Polycystic kidney dysplasia, Hydronephrosis, Enlarged kidney, Elevated circulating aspa... |
OMIM:608836 |
Glycogen Storage Disease Ib |
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Hepatocellular carcinoma, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Pan... |
OMIM:232220 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
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Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Autosomal Recessive Polycystic Kidney Disease |
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Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Recurrent urinary tract infections, He... |
ORPHA:731 |
Tyrosinemia, Type I |
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Acute hepatic failure, Hepatocellular carcinoma, Nephrocalcinosis, Enlarged kidney, Anemia, Renal... |
OMIM:276700 |
H Syndrome |
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Hepatosplenomegaly, Abnormality of the kidney, Micropenis, Enlarged kidney, Abnormal eyebrow morp... |
ORPHA:168569 |
Diaphanospondylodysostosis |
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Enlarged kidney, Horseshoe kidney, Nephroblastomatosis, Abnormal liver lobulation, Cystic renal d... |
OMIM:608022 |
Glycogen Storage Disease Ia |
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Hepatocellular carcinoma, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Pan... |
OMIM:232200 |
Acrocephalopolydactylous Dysplasia |
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Enlarged kidney, Hepatic fibrosis, Hepatomegaly, Polysplenia, Pancreatic fibrosis, Cystic renal d... |
OMIM:200995 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Heparan sulfate excretion in urine, Hepatosplenomegaly, Proteinuria, Long eyelashes, Leukopenia, ... |
ORPHA:505248 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Abnormal myeloid leukocyte morphology, Hepatocellular carcinoma, Proteinuria, Stage 5 chronic kid... |
ORPHA:79259 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Episodic hemolytic anemia, Proteinuria, Enlarged kidney, Macroscopic hematuria, Membranoprolifera... |
ORPHA:251004 |
Kaposiform Lymphangiomatosis |
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Hepatosplenomegaly, Enlarged kidney, Abnormal spleen morphology, Anemia, Multiple renal cysts, Th... |
ORPHA:464329 |
Igg4-Related Kidney Disease |
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Enlarged kidney, Urethritis, Albuminuria, Abnormality of mesentery morphology, Decreased liver fu... |
ORPHA:449395 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Cataract, Bifid ureter, Enlarged kidney, Chronic neutropenia, Astigmatism, Transient neutropenia,... |
ORPHA:500095 |
Alg9-Cdg |
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Hydronephrosis, Enlarged kidney, Hypoplasia of the bladder, Hypoplastic nipples, Abnormal renal a... |
ORPHA:79328 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Hydronephrosis, Urethral atresia, Enlarged kidney |
OMIM:314390 |
Exfoliation Syndrome |
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Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... |
OMIM:177650 |
Lymphoid Interstitial Pneumonia |
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Keratoconjunctivitis sicca, Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Mucolipidosis Ii Alpha/Beta |
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Mucopolysacchariduria, Enlarged kidney, Megalocornea, Brittle hair, Hepatomegaly, Sparse eyebrow,... |
OMIM:252500 |
Denys-Drash Syndrome |
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Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Nephropathy, Nephro... |
OMIM:194080 |
Hyperparathyroidism, Transient Neonatal |
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Unilateral renal agenesis, Splenic cyst, Enlarged kidney |
OMIM:618188 |
Beckwith-Wiedemann Syndrome |
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Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Hepatomegaly, Hepatoblastoma, Nephrolith... |
OMIM:130650 |
Chronic Myeloid Leukemia |
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Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
Ogden Syndrome |
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Global glomerulosclerosis, Polycystic kidney dysplasia, Jaundice, Long eyelashes, Polycythemia, E... |
OMIM:300855 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney |
OMIM:613091 |
Beckwith-Wiedemann Syndrome |
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Polycythemia, Enlarged kidney, Congenital megaureter, Multiple renal cysts, Nephropathy, Hepatome... |
ORPHA:116 |
Helsmoortel-Van Der Aa Syndrome |
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Recurrent urinary tract infections, Enuresis nocturna, Enlarged kidney, Astigmatism, Anxiety, Irr... |
OMIM:615873 |
Endocrine-Cerebroosteodysplasia |
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Hyperechogenic kidneys, Microphallus, Enlarged kidney, Hypospadias |
OMIM:612651 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cataract, Cardiomegaly, Enlarged kidney |
OMIM:261740 |
Heterotaxy, Visceral, 1, X-Linked |
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Enlarged kidney, Asplenia, Horseshoe kidney, Hepatomegaly, Polysplenia, Biliary atresia, Cardiome... |
OMIM:306955 |
Meacham Syndrome |
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Horseshoe kidney, Accessory spleen, Enlarged kidney |
OMIM:608978 |
Leprechaunism |
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Facial hypertrichosis, Nephrocalcinosis, Enlarged kidney, Hypertrichosis, Hepatomegaly, Enlarged ... |
ORPHA:508 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hydronephrosis, Enlarged kidney, Renal cyst, Duplication of renal pelvis, Supernumerary nipple, P... |
OMIM:312870 |
Cardiac-Urogenital Syndrome |
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Penoscrotal hypospadias, Micropenis, Enlarged kidney, Patent urachus, Hepatopulmonary fusion, Acc... |
OMIM:618280 |