loading...| Preferred Name | nephronophthisis | |
| Synonyms |
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| Definitions |
An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). Xref MGI. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_12712 |
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| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
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| definition |
An autosomal recessive disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). |
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| hasDbXref |
OMIM:602088 ORDO:655 OMIM:613824 OMIM:614845 OMIM:616217 OMIM:611498 OMIM:614844 OMIM:613550 OMIM:613820 OMIM:256100 UMLS_CUI:C0687120 OMIM:615382 OMIM:615862 SNOMEDCT_US_2016_03_01:204958008 OMIM:614377 OMIM:613159 SNOMEDCT_US_2016_03_01:204961009 OMIM:606966 OMIM:604387 ICD10CM:Q61.5 NCI:C123200 |
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| hasExactSynonym |
medullary cystic kidney medullary cystic disease |
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| hasOBONamespace |
disease_ontology |
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| id |
DOID:12712 |
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| imported from | ||
| inSubset | ||
| label |
nephronophthisis |
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| prefixIRI |
DOID:12712 |
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| prefLabel |
nephronophthisis |
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| subClassOf |