loading...| Preferred Name |
Polycystic Kidney, Autosomal Recessive |
|
| Synonyms |
Polycystic Kidney Disease, Autosomal Recessive |
|
| Definitions |
A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D017044 |
|
| altLabel |
Polycystic Kidney Disease, Autosomal Recessive ARPKD Kidney, Polycystic, Autosomal Recessive Autosomal Recessive Polycystic Kidney Disease Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive) Autosomal Recessive Polycystic Kidney Polycystic Kidney Disease, Infantile, Type 1 Polycystic Kidney and Hepatic Disease 1 |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0085548 |
|
| DC |
1 |
|
| definition |
A genetic disorder with autosomal recessive inheritance, characterized by multiple CYSTS in both KIDNEYS and associated LIVER lesions. Serious manifestations are usually present at BIRTH with high PERINATAL MORTALITY. |
|
| DX |
19920101 |
|
| HN |
1992 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
1992; see KIDNEY, POLYCYCSTIC, AUTOSOMAL RECESSIVE 1992-2000 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C537755 |
|
| MDA |
19910530 |
|
| MMR |
20210630 |
|
| MN |
C12.950.419.403.875.510 C12.050.351.968.419.403.875.510 C12.200.777.419.403.875.510 C16.131.077.717.510 C16.320.184.625.510 |
|
| notation |
D017044 |
|
| prefLabel |
Polycystic Kidney, Autosomal Recessive |
|
| TERMUI |
T749778 T782132 T050887 T050888 T782131 T050889 T635480 T640226 T410221 T404834 |
|
| TH |
OMIM (2013) NLM (2012) NLM (2001) NLM (1992) NLM (2010) NLM (2006) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |