loading...| Preferred Name |
autosomal recessive polycystic kidney disease |
|
| Synonyms |
AR-PKD polycystic kidney disease, infantile type polycystic kidney disease, autosomal recessive autosomal recessive polycystic kidney ARPKD PKHD1 polycystic kidney and hepatic disease 1 polycystic kidney disease, infantile, type I |
|
| Definitions |
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009889 |
|
| conformsTo |
http://purl.obolibrary.org/obo/mondo/patterns/autosomal_recessive.yaml |
|
| database_cross_reference |
SCTID:28770003 MedDRA:10036047 DOID:0110861 UMLS:C0085548 NCIT:C84579 ICD9:753.14 Orphanet:731 ICD10:Q61.1 GARD:0008378 |
|
| exactMatch |
http://identifiers.org/mesh/D017044 http://purl.obolibrary.org/obo/DOID_0110861 http://purl.obolibrary.org/obo/NCIT_C84579 http://identifiers.org/omim/263200 http://identifiers.org/snomedct/28770003 http://www.orpha.net/ORDO/Orphanet_731 |
|
| has exact synonym |
AR-PKD polycystic kidney disease, infantile type polycystic kidney disease, autosomal recessive autosomal recessive polycystic kidney ARPKD |
|
| has narrow synonym |
polycystic kidney and hepatic disease 1 polycystic kidney disease, infantile, type I |
|
| has related synonym |
PKHD1 |
|
| id |
MONDO:0009889 |
|
| imported from | ||
| in_subset | ||
| label |
autosomal recessive polycystic kidney disease |
|
| notation |
MONDO:0009889 |
|
| prefLabel |
autosomal recessive polycystic kidney disease |
|
| textual definition |
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0018396 http://purl.obolibrary.org/obo/MONDO_0018409 |