Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/263200
http://purl.bioontology.org/ontology/OMIM/263200
|
|---|---|
| Preferred Name | POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE |
| Synonyms |
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
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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
See more
See less
|
|---|---|
| prefLabel | POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
|
| Gene Symbol |
PKD4
PCYT
PKHD1
ARPKD
|
| 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 ciliary IPT domain containing fibrocystin/polyductin gene (PKHD1, 606702.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 6p12.3-p12.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 263200
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C0085548
C0009714
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |