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Details
Link-It Detail - Disease - Polycystic Kidney, Autosomal Recessive
Debug Stats
  • ### Total Build Time: 139 ms 27.261 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 449 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 371 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=2 ms Completed: 2 ms rowSize= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=14 ms Completed: 14 ms rowSize= 1,004 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=28 ms Completed: 28 ms rowSize= 4.157 KB
  • CONCEPT_RELATIONSHIPS gt=75 ms Completed: 75 ms rowSize= 13.808 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 6.066 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.172 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Polycystic Kidney, Autosomal Recessive C0085548
Autosomal Recessive Polycystic Kidney Disease
Definition (1)
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.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (2)
img Genetic Diseases, Inborn C0950123
img Polycystic Kidney Diseases C0022680
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208877img Polycystic Kidney Diseases C0022680
img Male Urogenital Diseases C1720894img Urologic Diseases C00420756img Polycystic Kidney Diseases C0022680
Relationships (48)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 3
diso_​to_​diso : 36
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 15
associated_​with : 1
classifies : 2
clinically_​similar : 1
entry_​version_​of : 1
is_​associated_​anatomic_​site_​of : 2
manifestation_​of : 22
mapped_​to : 2
related_​to : 2
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN61img genetic aspects C0017399
DISO_to_PHEN50img genetic aspects C0017399
DISO_to_CHEM25img Cell Surface Receptor C0034800
DISO_to_CHEM25img Receptors, Cell Surface C0034800
DISO_to_CHEM20img Cell Surface Receptor C0034800
DISO_to_DISO18img Complication Aspects C1171258
DISO_to_DISO13img ADPK C0085413
DISO_to_PHYS13img Decision Making C0011109
DISO_to_PHYS13img Fetal Viability C0015954
DISO_to_ANAT12img Kidney C0022646
DISO_to_DISO12img Complication Aspects C1171258
DISO_to_DISO10img ADPK C0085413
DISO_to_ANAT9img Kidney C0022646
DISO_to_ANAT9img Liver C0023884
DISO_to_DISO9img Liver Diseases C0023895
DISO_to_ANATis_associated_anatomic_site_ofimg Kidney C0022646
DISO_to_ANATis_associated_anatomic_site_ofimg Urinary system C1508753
DISO_to_DISOassociated_withimg 267 CONGENITAL CAVITATIONS C0333001
DISO_to_DISOclassifiesimg ABNORM UROGENITAL C0042063
DISO_to_DISOentry_version_ofimg Autosomal Recessive Polycystic Kidney Disease C0085548
DISO_to_DISOmanifestation_ofimg Bile duct dilation and proliferation C1849767
DISO_to_DISOrelated_toimg CAROLI DIS C0162510
DISO_to_DISOmapped_toimg CHROMOSOME 16p13.3 DELETION SYNDROME, DISTAL C1838327
DISO_to_DISOrelated_toimg CONGENITAL HEPATIC FIBROSIS C0009714
DISO_to_DISOmanifestation_ofimg Caused by mutations in the PKHD1 gene (606702.0001). C2678407
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanHNF1B6928HNF1 homeobox B
img GENERIF, Score=1000, Pubmed Id: 15647252, UMLKSK CUI: C0085548
HumanPKHD15314polycystic kidney and hepatic disease 1 (autosomal recessive)
img GENERIF, Score=1000, Pubmed Id: 17160262, UMLKSK CUI: C0085548
img GENERIF, Score=1000, Pubmed Id: 11919560, UMLKSK CUI: C0085548
img GENERIF, Score=1000, Pubmed Id: 17669261, UMLKSK CUI: C0085548
img GENERIF, Score=1000, Pubmed Id: 12079288, UMLKSK CUI: C0085548
img GENERIF, Score=1000, Pubmed Id: 15647252, UMLKSK CUI: C0085548
img GENERIF, Score=780, Pubmed Id: 16199545, UMLKSK CUI: C0085548
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0085548Polycystic Kidney, Autosomal Recessive0self