loading...| Preferred Name |
Autosomal Recessive Polycystic Kidney Disease |
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| Synonyms |
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| Definitions |
Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C84579 |
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| ALT_DEFINITION |
Autosomal recessive polycystic kidney disease caused by a mutation(s) in PKHD1 that is always associated with liver disease. |
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| code |
C84579 |
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| Contributing_Source |
Cellosaurus NICHD |
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| definition |
Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C123272 |
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| label |
Autosomal Recessive Polycystic Kidney Disease |
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| Preferred_Name |
Autosomal Recessive Polycystic Kidney Disease |
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| prefixIRI |
NCIT:C84579 |
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| prefLabel |
Autosomal Recessive Polycystic Kidney Disease |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0085548 |
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| subClassOf |