loading...| Preferred Name |
Nephronophthisis |
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| Synonyms |
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| Definitions |
A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, occasional presence of cysts, and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_655 |
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| definition |
A rare, genetic, renal ciliopathy characterized by reduced ability of the kidneys to concentrate solutes, chronic tubulointerstitial nephritis, occasional presence of cysts, and progression to end stage renal disease (ESRD). The three clinical subtypes are characterized by the age of onset of ESRD which includes infantile, juvenile and late onset. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=655 |
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| has_age_of_onset |
Adolescent Adult Antenatal Childhood Infancy Neonatal |
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| has_inheritance |
Autosomal recessive |
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| hasDbXref |
OMIM:614377 OMIM:615382 OMIM:613820 OMIM:613824 OMIM:615862 ICD-11:GB83 ICD-10:Q61.5 OMIM:256100 OMIM:602088 OMIM:613159 UMLS:C0687120 OMIM:606966 OMIM:611498 OMIM:604387 OMIM:617271 |
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| label |
Nephronophthisis |
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| notation |
ORPHA:655 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_93587 |
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| prefixIRI |
ORDO:Orphanet_655 |
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| prefLabel |
Nephronophthisis |
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| present_in |
Finland AND has_birth_prevalence_average_value : 1.25 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : Unknown |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_506213 http://www.orpha.net/ORDO/Orphanet_93587 |
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| subClassOf |