loading...| Preferred Name |
POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE |
|
| Synonyms |
ARPKD |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/263200 |
|
| altLabel |
ARPKD PKD4 POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1 PKHD1 PKD3, FORMERLY HEPATIC FIBROSIS, CONGENITAL POLYCYSTIC KIDNEY DISEASE, INFANTILE, TYPE I |
|
| cui |
C0085548 C0009714 |
|
| Gene Locus |
6p12.3-p12.2 |
|
| Gene Symbol |
PKD4 PKHD1 FCYT ARPKD |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU010080 http://purl.bioontology.org/ontology/OMIM/MTHU010077 http://purl.bioontology.org/ontology/OMIM/MTHU010076 http://purl.bioontology.org/ontology/OMIM/MTHU000623 http://purl.bioontology.org/ontology/OMIM/MTHU009087 http://purl.bioontology.org/ontology/OMIM/MTHU010082 http://purl.bioontology.org/ontology/OMIM/MTHU000177 http://purl.bioontology.org/ontology/OMIM/MTHU037338 http://purl.bioontology.org/ontology/OMIM/MTHU010078 http://purl.bioontology.org/ontology/OMIM/MTHU037473 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU002578 http://purl.bioontology.org/ontology/OMIM/MTHU005771 http://purl.bioontology.org/ontology/OMIM/MTHU005802 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
263200 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE |
|
| Scope Statement |
Incidence - 1/16,000 live births [MISCELLANEOUS] Manifests in infancy (including neonatal lethal) or childhood [MISCELLANEOUS] Maternal oligohydramnios [MISCELLANEOUS] Caused by mutation in the PKHD1 gene (606702.0001) [MOLECULAR BASIS] |
|
| tui |
T047 |