loading...| Preferred Name |
autosomal recessive polycystic kidney disease |
|
| Synonyms |
Pkhd1 Polycystic Kidney and Hepatic Disease 1 |
|
| Definitions |
A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0110861 |
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| database_cross_reference |
SNOMEDCT_US_2023_03_01:28770003 UMLS_CUI:C0085548 MESH:D017044 ICD10CM:Q61.1 OMIM:263200 ICD9CM:753.14 GARD:8378 NCI:C84579 ORDO:731 |
|
| has exact synonym |
Pkhd1 Arpkd Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney and Hepatic Disease 1 |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0110861 |
|
| in_subset | ||
| label |
autosomal recessive polycystic kidney disease |
|
| notation |
DOID:0110861 |
|
| prefLabel |
autosomal recessive polycystic kidney disease |
|
| textual definition |
A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. |
|
| subClassOf |