loading...| Preferred Name |
Nephronophthisis 1 |
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| Synonyms |
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| Definitions |
(NPHP1): An autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years. |
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| ID |
http://purl.obolibrary.org/obo/OMIM_256100 |
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| definition |
(NPHP1): An autosomal recessive inherited disease characterized by anemia, polyuria, polydipsia, isosthenuria and death in uremia. Symmetrical destruction of the kidneys involving both tubules and glomeruli occurs. The underlying pathology is a chronic tubulo-interstitial nephropathy with characteristic tubular basement membrane thickening and medullary cyst formation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The age at death ranges from about 4 to 15 years. |
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| has_obo_namespace |
cell_cycle_ontology |
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| id |
OMIM:256100 |
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| label |
Nephronophthisis 1 |
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| notation |
OMIM:256100 |
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| prefLabel |
Nephronophthisis 1 |
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