Pkhd1 ciliary ipt domain-containing fibrocystin/polyductin

Preferred Label : Pkhd1 ciliary ipt domain-containing fibrocystin/polyductin;

Symbol : PKHD1;

CISMeF acronym : PKHD1;

Type : Gene;

Alternative titles and symbols : Fibrocystin; Polycystic kidney and hepatic disease 1 gene; FCYT; POLYDUCTIN;

Ensembl ID : ENSG00000170927;

Prefixed ID : *606702;

Details

Origin ID

606702;

UMLS CUI

C1418605;

Automatic exact mappings (from CISMeF team)
- Fibrocystin [NCIt concept]
- PKHD1 Gene [NCIt concept]
- PKHD1 ciliary IPT domain containing fibrocystin/polyductin [ORDO Gene]
- PKHD1 ciliary IPT domain containing fibrocystin/polyductin [HGNC gene]
- PKHD1 gene [LOINC component]
- PKHD1 wt Allele [NCIt concept]
- autosomal recessive polycystic kidney disease [DO Concept]
HGNC gene
- PKHD1 ciliary IPT domain containing fibrocystin/polyductin [HGNC gene]
NCIt concept(s)
- Fibrocystin [NCIt concept]
- PKHD1 Gene [NCIt concept]
- PKHD1 wt Allele [NCIt concept]
ORDO concept(s)
- PKHD1 ciliary IPT domain containing fibrocystin/polyductin [ORDO Gene]
Phenotypes related
- Polycystic kidney disease 4 with or without polycystic liver disease [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PKHD1 Gene [NCIt concept]
- PKHD1 ciliary IPT domain containing fibrocystin/polyductin [HGNC gene]
- PKHD1 gene [LOINC component]

Keyword's position in hierarchy(ies) :

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