loading...| Preferred Name |
Autosomal Recessive Polycystic Kidney Disease |
|
| Synonyms |
Autosomal Recessive Polycystic Kidney Disease Polycystic Kidney Disease, Infantile Type Autosomal Recessive Polycystic Kidney |
|
| 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. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84579 |
|
| ALT_DEFINITION |
Autosomal recessive polycystic kidney disease caused by a mutation(s) in PKHD1 that is always associated with liver disease. |
|
| code |
C84579 |
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123272 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 |
|
| Contributing_Source |
Cellosaurus NICHD |
|
| 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. |
|
| FULL_SYN |
Autosomal Recessive Polycystic Kidney Disease Polycystic Kidney Disease, Infantile Type Autosomal Recessive Polycystic Kidney |
|
| label |
Autosomal Recessive Polycystic Kidney Disease |
|
| Preferred_Name |
Autosomal Recessive Polycystic Kidney Disease |
|
| prefixIRI |
Thesaurus:C84579 |
|
| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0085548 |
|
| subClassOf |